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The Publisher
Developmental-behavioral pediatrics / [edited by] William B. Carey ... [et al.]. 4th ed.
p. ; cm.
ISBN 978-1-4160-3370-7
1. Pediatrics. 2. PediatricsPsychological aspects. 3. Child development. 4. Child psychology. 5. Child development
deviations. 6. Pediatric neuropsychiatry. I. Carey, William B.
[DNLM: 1. Child Development. 2. Child Behavior Disorders. 3. Child Behavior. 4. Developmental Disabilities.
WS 105 D48912 2009]
RJ47.D48 2009
618.92dc22
Printed in China
Last digit is the print number: 9 8 7 6 5 4 3 2 1
2008032777
contributors
Marilee C. Allen, MD Professor of Pediatrics, The
Tanni L. Anthony, PhD, Ed.S. Supervisor of LowIncidence Programs/State Consultant on Blindness and
Low Vision, Denver, Colorado
Blindness and Visual Impairment
Pediatrics, Harvard Medical School; Associate in Medicine, Childrens Hospital Boston, Boston, Massachusetts
Bowel Function, Toileting, and Encopresis
ThomasD.Challman,MD Assistant Professor of Pediatrics, Jefferson Medical College, Philadelphia, Pennsylvania; Director, Pediatric Subspecialties, Geisinger Medical
Center, Danville, Pennsylvania
Alternative Therapies
vi
CONTRIBUTORS
Amy Cheung, MD, MSc Assistant Professor of Psychiatry, University of Toronto; Staff Physician, Department of Psychiatry, Sunnybrook Health Sciences Centre,
Toronto, Canada
Major Disturbances of Emotion and Mood
Mary Ann Chirba-Martin, JD, MPH Assistant Professor, Boston College Law School, Newton, Massachusetts
Legal Issues
Harvard Medical School; Associate Professor of Maternal and Child Health, Harvard School of Public Health;
Program Director, Institute for Community Inclusion,
Childrens Hospital Boston, Boston, Massachusetts
Intellectual Disability; The Right to Be Different
of Psychiatry and Pediatrics, Duke University Medical Center; Medical Director, Child and Adolescent
Psychiatry Services, Duke University Medical Center;
Division Chief, Division of Child Development and
Behavioral Health, Department of Pediatrics, Duke
University Medical Center, Durham, North Carolina
Child and Adolescent Psychopharmacology
Carol S. Dweck, PhD Lewis and Virginia Eaton Professor of Psychology, Stanford University, Stanford,
California
Self-Concept
Ellen
Roy
rics, Epidemiology, and Preventive Medicine, University of Maryland School of Medicine; Deputy Director,
Division of Epidemiology and Prevention, Institute of
Human Virology at the University of Maryland School
of Medicine, Baltimore, Maryland
Human Immunodeficiency Virus Infection in
Children
CONTRIBUTORS
versity of Massachusetts Medical School; Director of Developmental and Behavioral Pediatrics, UMass Memorial
Childrens Medical Center, Worcester, Massachusetts
Adolescence
vii
University of Pittsburgh Medical School; DevelopmentalBehavioral Pediatrician, Child Development Unit, Childrens Hospital of Pittsburgh, Pittsburgh, Pennsylvania
Preschool Years
Stanford University School of Medicine; Medical Director, Ambulatory Services, Lucile Packard Childrens
Hospital, Palo Alto, California
Child and Adolescent Obesity
Antonio Y. Hardan, MD Assistant Professor of Psychiatry, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo
Alto, California
Schizophrenia, Phobias, and Obsessive-Compulsive
Disorder
John J. Hardt, PhD Assistant Professor, Loyola University Chicago, Stritch School of Medicine, Maywood,
Illinois
Ethics
viii
CONTRIBUTORS
Sara Harkness, PhD, MPH Professor of Human Development, Pediatrics, Public Health, and Anthropology, University of Connecticut, Storrs, Connecticut
Culture and Ethnicity
Penny Hauser-Cram, EdD Professor, Boston College, Lynch School of Education, Chestnut Hill, Massachusetts
Early Intervention Services
Lynne C. Huffman, MD Associate Professor of Pediatrics, Stanford University, Stanford, California; Director, Division of Outcomes Measurement and Research,
Childrens Health Council, Palo Alto, California
Neighborhood and Community
Louise Kaczmarek, PhD Associate Professor, Department of Instruction and Learning, School of Education, University of Pittsburgh, Pittsburgh, Pennsylvania
Special Education Services
Perri Klass, MD Professor of Journalism and Pediatrics, New York University, New York, New York
Brothers and Sisters
rics, Harvard Medical School; Director, Center for Adolescent Substance Abuse Research, Childrens Hospital
Boston, Boston, Massachusetts
Substance Use, Abuse, and Dependence and Other
Risk-Taking Behaviors
University of Colorado Denver School of Medicine, Denver, Colorado; Codirector, Clinical Program, Neurology, The Childrens Hospital, Aurora,
Colorado
Nervous System Disorders
CONTRIBUTORS
of Pediatrics, Johns Hopkins University School of Medicine; Attending Physician, Neurodevelopmental Pediatrics, Kennedy Krieger Institute, Baltimore, Maryland
Neurodevelopmental Consequences of Preterm Birth:
Causes, Assessment, and Management
Melvin D. Levine, MD Professor of Pediatrics, University of North Carolina, Chapel Hill, North Carolina
Differences in Learning and Neurodevelopmental
Function in School-Age Children
ix
School of Medicine, Stanford, California; DevelopmentalBehavioral Pediatrician, Lucile Packard Childrens Hospital, Palo Alto, California
Influences of Experience in the Environment on
Human Development and Behavior
Allison Master, MA PhD Candidate, Teaching Assistant, and Instructor, Stanford University, Stanford,
California
Self-Concept
atrics, Case Western Reserve University School of Medicine; Attending Physician, Department of Pediatrics,
Metro Health Medical Center, Cleveland, Ohio
Adjustment and Adjustment Disorders
rosciences, University of California, San Diego, School
of Medicine, La Jolla, California; Pediatric Neuropsychologist, University of California, San Diego, Medical
Center, San Diego, California
Human Immunodeficiency Virus Infection in Children
CONTRIBUTORS
Judith S. Palfrey, MD T. Berry Brazelton Professor, Harvard Medical School; Director, Childrens
International Pediatric Center, Childrens Hospital Boston, Boston, Massachusetts
Legislation for the Education of Children With Disabilities
Medical School; Director, Massachusetts General Hospital for Children, Center for Child and Adolescent Health
Policy; Associate Chair for Research, Massachusetts
General Hospital for Children, Boston, Massachusetts
Chronic Health Conditions
Pediatrics, Oregon Health and Science University; Developmental and Behavioral Pediatrician, Child Development and Rehabilitation Center, Eugene, Oregon
The Laying on of Hands: The Physical Examination
in Developmental and Behavioral Assessment
Professor of Pediatrics, Harvard Medical School; Director, Developmental Medicine Center, Childrens Hospital Boston, Boston, Massachusetts
Attention and Deficits of Attention
CONTRIBUTORS
atrics, University of Chicago; Program Director, Fellowship in Developmental and Behavioral Pediatrics, Chief
of the Medical Staff, La Rabida Childrens Hospital,
Chicago, Illinois
Ethics
of Pediatrics and Internal Medicine, Division of Adolescent Medicine; Fellowship Director, Adolescent Medicine, Cincinnati Childrens Hospital Medical Center,
University of Cincinnati, Cincinnati, Ohio
Sexuality: Its Development and Direction
Martin T. Stein, MD Professor of Pediatrics, University of California, San Diego, School of Medicine, La
Jolla, California; Pediatrician, Rady Childrens Hospital
San Diego, San Diego, California
Common Issues in Feeding; Developmental Screening
and Assessment: Infants, Toddlers, and Preschoolers
xi
Professor of Family and Community Medicine, University of New Mexico School of Medicine; Chief, Division of Adolescent Medicine, University of New Mexico
School of Medicine, Albuquerque, New Mexico
Media
Stephen Sulkes, MD Professor of Pediatrics, University of Rochester School of Medicine and Dentistry;
Director, Strong Center for Developmental Disabilities,
Golisano Childrens Hospital at Strong, Rochester,
New York
Transition to Adulthood for Youth with Developmental Disabilities
Charles M. Super, PhD Professor of Human Development and Pediatrics, University of Connecticut,
Storrs, Connecticut
Culture and Ethnicity
University of California, San Francisco, California; Associate Director, Division of Developmental and Behavioral Pediatrics, Childrens Hospital and Research
Center at Oakland, Oakland, California
Separation, Divorce, and Remarriage
xii
CONTRIBUTORS
Brandywine School of Nursing, Coatesville, Pennsylvania; Former Research Assistant, The Childrens Hospital of Philadelphia, Philadelphia, Pennsylvania
Aggression, Violence, and Delinquency
David K. Urion, MD Associate Professor of Neurology, Harvard Medical School; Director, Learning Disabilities/Behavioral Neurology Program, Director of
Education, Department of Neurology, Childrens Hospital Boston, Boston, Massachusetts
Diagnostic Methods for Disorders of the Central
Nervous System
Pediatrics, Yale University School of Medicine; Attending Physician, YaleNew Haven Hospital, New Haven,
Connecticut
Autism and Related Disorders
Barry S. Zuckerman, MD Professor and Chair, Department of Pediatrics, Boston University School of
Medicine, Boston, Massachusetts
Infancy and Toddler Years
preface
Welcome to the fourth edition of DevelopmentalBehavioral Pediatrics. We editors have attempted to insure that this new version maintains the high standards
of the previous three. In addition to the necessary updates of the changing science and practice, it adds even
further to the breadth, depth, and clarity of the coverage
of this vital aspect of comprehensive pediatric care.
The first edition appeared twenty-six years ago, in
1983. It came at a time when developmental and behavioral pediatrics had grown independently over preceding
decades and were still regarded as largely disconnected
enterprises. Our 1983 edition was the first text to integrate the two strands in the same book. The hyphenated title, Developmental-Behavioral Pediatrics, was
the simplest term we could contrive to describe the full
contents of the unified field. This name was eventually
taken by the American Board of Pediatrics as the official
designation for the newly recognized subspecialty. The
hyphen has not been just a punctuation mark but also
a declaration of the acceptance of the professional common ground.
From the outset we were determined to produce a
volume with sufficient theory and science for the academic specialist and enough description of diagnosis
and management for the clinician. We have attempted
to emphasize the broad range of normal and to acknowledge childrens strengths as well as deficits.
The second edition in 1992 and the third in 1999
aimed both to revise evolving subject areas and to add
significant topics not previously described.
Between 1999 and 2009 the field has matured in several ways besides the acceptance by the American Board
of Pediatrics of this vital independent subspecialty with
its own certifying examination of competence. Other
significant developments are the wide range of new techniques for understanding the origins of developmental
and behavioral differences, an enhanced appreciation of
the nature of dysfunctions and disorders, and advances
in management.
This fourth edition of this text strives to integrate
theory, science, and practice and to maintain interdisciplinary collaboration. The Table of Contents informs
the reader that we have maintained our original unique
and logical arrangement of the chapters. We have substantially updated the section on Biological Influences
to incorporate new information from genetics and neuroscience and about inborn errors of metabolism. The
previous Part V with its mixture of Outcomes during
Childhood has now been organized better and subdivided into separate sections on behavioral and emotional
status, school performance, physical functions, and
xiv
Preface
In all three previous editions of this volume the Preface began with a poem by Robert Frost, a selection made
by our lead editor, Mel Levine. This time our new chief
editor continues the tradition by selecting as a conclusion to this Preface a few pertinent one-liners from his
favorite American author, Mark Twain:
A baby is an inestimable blessing and bother.
Letter to Annie Webster, September 1, 1876
Training is everything. The peach was once a bitter
almond; the cauliflower is nothing but cabbage with a
college education.
Puddnhead Wilsons Calendar, Chapter 5
THE HISTORY
OF DEVELOPMENTALBEHAVIORAL PEDIATRICS
Heidi M. Feldman and Trenna L. Sutcliffe
Chapter 1
Table 1-1. Important Contributions to Child Health from Antiquity to the Seventeenth Century
Individual
Dates
Contributions
Hippocrates
460-377 b.c.
Aristotle
Soranus of Ephesus (Fig. 1-1)
384-322 b.c.
Practiced
98-138 a.d.
129-200 a.d.
860-925
980-1037
Paulo Bagellardo
1472
Bartholomaeus Metlinger
Thomas Phaer
1473
1544
1544
Data from Mahnke CB: The growth and development of a specialty: The history of pediatrics. Clin Pediatr 39:705-714, 2000.
prosperity. With increasing urbanization, poverty, disability, and mental illness evolved from isolated individual or family issues to visible social problems.
Life in the cities was extremely difficult for the poor.
The cost of living was high. Women, who needed to
work to support their families, required child care and
artificial formulas. Desperately poor women sometimes
resorted to prostitution to earn a living. The infant mortality rate was extremely high, at about 20% to 25%
The Enlightenment
In the late 17th century and early 18th century, a new
social philosophy rejected the absolute authority of the
church and monarchy and, in so doing, reframed basic
concepts of human experience and human worth. The
Enlightenment rested on the supposition that the universe could be understood through the use of reason.
One of the early contributors was the British philosopher John Locke (1632-1704), who argued that ideas
and moral thought were not innate, but rather acquired
through experience. The mind, in his philosophy, could
be conceptualized as a blank slate on which sensations
stamp simple ideas, which are processed through reflection to form complex ideas. Another highly influential
thinker of the era was Jean-Jacques Rousseau (17121778). He articulated another influence of environment:
humans were good by nature and corrupted by their
experiences in society. He argued that the role of government was freedom, equality, and justice for all. The
Enlightenment inspired the origins of democracy on the
political sphere.
disability
, deafness,
In the early 18th century, the diseases of children garnered increasing attention. William Cadogan (17111797), an English physician, wrote an influential text,
Essay upon Nursing and the Management of Children in 1748, and George Armstrong (1719-1789), another English physician, established the first dispensary
for children in London, in 1769. In 1802, the first
childrens hospital, Lhpital des Enfants-Malades, was
founded in Paris, the center of Western medicine at the
time (Mahnke, 2000). After unrelenting advocacy on
the part of Charles West (1816-1898), The Hospital for
Sick Children at No. 49 Great Ormond Street opened in
London in 1852.
The same period witnessed major changes in the
United States. A leading physician, Benjamin Rush
(1745-1813), lectured on the diseases of children in the
Chapter 1
education was available only to the wealthy. Public education was seen as a way to integrate poor immigrant
children and former slaves into the mainstream American culture (Kanner, 1964). Early textbooks emphasized moral education and industry. Influential leaders,
such as Horace Mann (1796-1859), promoted public
education. Near the end of the 19th century, mandatory
school attendance laws were passed in many states. The
public school movement generally favored the education of all children, including children with disabilities,
in the local community.
Ivan Pavlov (1849-1936), a Russian physiologist, psychologist, and physician, described what he called the
conditioned reflex. The conditioned reflex is the ability of a once neutral stimulus, such as a bell, to cause a
physiologic reaction, such as salivation, in an animal or
human based on pairings of the neutral stimulus with a
motivating stimulus, such as food. These concepts are
current in areas such as the causes and treatments of
phobias. In the United States, James B. Watson (18781958) was an early behaviorist, who argued for cutting
out consciousness and other intangibles from the dialogue of psychology. His hope was to control childrens
emotions through conditioning. B. F. Skinner (19041990) elaborated on operant conditioning, the ability
of a reinforcing stimulus to change the probability of
the appearance of behaviors. Operant conditioning still
plays a central role in behavior management of children
developing typically and children with disabilities. Following Skinner, behavioral approaches scrutinize antecedent conditions, behaviors, and consequences in the
search for reinforcers. In addition, the frequency and
pattern of reinforcement are still considered important
to the maintenance of behavior change.
Chapter 1
developing and evaluating social and community programs for individuals with disabilities, training clinicians
and researchers involved in disability care and science,
and communicating with the community to determine
needs. The programs were interdisciplinary, requiring
representatives from a wide range of disciplines, including psychology, nursing, social work, occupational and
physical therapy, and public health.
The UAPs were funded by one of two sources.
UAPs funded by the Administration for Developmental
Disabilities are now known as university centers for
excellence for developmental disabilities; there are 61
centers nationally. These centers are associated with
major universities and work closely with communitybased organizations, services, and self-advocacy groups.
This community collaboration has many advantages,
including ensuring that individuals with disabilities contribute to the policies and programs that affect them,
stimulating leadership in the community, and ensuring
that academic and research programs are relevant and
respectful. UAPs funded by the MCHB are now known
as leadership Education in neurodevelopmental and
Related disabilities (LEND); there are 36 programs
nationally. These programs, also associated with major universities, emphasize interdisciplinary clinical and
leadership training. They also promote community participation to improve communication, coordination, and
shared leadership at all levels. Developmental disabilities research centers, funded by the National Institute
of Child Health and Human Development, were established initially in 1963, charged with using basic, clinical, and translational research to understand the causes
and provide treatments for disabilities. All of these university programs are members of the Association of University Centers on Disability, an advocacy network for
disabilities and the programs themselves (Association of
University Centers on Disabilities, 2004).
Chapter 1
BIRTH OF DEVELOPMENTAL-BEHAVIORAL
PEDIATRICS
Changing Demographics
The prevalence of children with developmental and
behavioral disorders or at risk for such disorders increased dramatically in the second half of the 20th century, creating a need for specialists in the care of these
children. A major factor in the shifting demographics
was advances in medical science and technology. In
1960, the survival rate for an infant weighing 1 kg was
5%, and an infant born at less than 28 weeks gestation
was considered nonviable. The development of neonatal intensive care units, specialized respirators, and the
use of surfactant dramatically altered survival rates. In
2000, the survival rate of the infant weighing 1 kg was
University of California
San Francisco
Harvard University
Program required pediatric residents to train in mental health issues; early fellowship training program
Rochester University
Yale University
Childrens Hospital
of Philadelphia
Johns Hopkins University
Julius Richmond encouraged pediatricians to establish expertise in development and behavior; Allen Crocker
studied children with neurologic disorders and established Developmental Evaluation Center; T. Berry
Brazelton developed a neonatal assessment tool; Melvin D. Levine focused on problems of attention and
learning, and established training program and clinical service; Eli Newberger launched program in child
abuse
Robert Haggerty and Stanford Friedman began training fellows in behavioral pediatrics and adolescent
medicine
Arnold Gesell founded Yale Child Study Center; initial focus was child development; Milton Senn and Albert
Solnit brought psychoanalytic focus
Henry Cecil began program in psychological pediatrics, funded by William T. Grant Foundation;
William B. Carey was first fellow
Leo Kanner and Leon Eisenberg began fellowship training through department of psychiatry; Kennedy Center
focused on children with disabilities; Arnold Capute was first fellow
10
Chapter 1
CURRENT ERA
Developmental-behavioral pediatrics is securely embedded as a subspecialty within pediatrics. At the same
time, it remains an interdisciplinary field integrating
psychology, pediatrics, and related disciplines. The field
of developmental-behavioral pediatrics plays many key
roles in academic medicine, clinical practice, and community advocacy.
Developmental-behavioral pediatrics is an important element in the education of general pediatricians.
At the time of this writing, general pediatric residencies
are required by the Residency Review Committee of the
Accreditation Council of Graduate Medical Education
to provide residents with a 1-month dedicated rotation and a longitudinal component, the equivalent of a
second month spread throughout residency. Through
developmental-behavioral pediatrics, many residents
learn an approach to the so-called new morbidities,
which continue to evolve with shifting demographic
trends (Haggerty, 2006). Through these experiences,
residents also learn an approach to the care of children
with disabilities and other special health care needs. It is
often in this rotation that pediatric residents experience
interdisciplinary clinical practice and learn about leadership and teamwork.
The number of fellowship programs is growing. As in
other pediatric subspecialties, fellowship requirements
include a scholarly project. Developmental-behavioral
pediatrics is beginning to expand the types of research
it encompasses, branching out to genomics and neuroscience, in addition to traditional clinical medicine and
psychology. Evidence-based practice guidelines are now
available for many of the disorders treated within the
discipline.
Clinical practice in developmental-behavioral pediatrics generally uses a family-centered approach. Families
are invited to participate in the clinical encounter, not
only providing history, but also sharing in the decision
making about clinical care. Clinical practice also seeks
to be culturally and linguistically competent. The field
recognizes the important role that culture plays in the
manifestations and understanding of illness and disability and in decisions about the acceptability of approaches to treatment. Care is generally compassionate,
recognizing the unique strengths of these young patients
and their needs. Finally, developmental-behavioral pediatrics recognizes that care of children developing typically, at risk for developmental disorders, or with clinical
conditions requires the close collaboration of the health
care system with community resources and services.
Developmental-behavioral pediatricians are frequently
the ones within the pediatric health care systems who
link children and families to appropriate communitybased agencies and services.
11
SUMMARY
Developmental-behavioral pediatrics is a relatively
young interdisciplinary field that contributes to the care
of children who are developing normally, children at
risk for developmental and behavioral disorders on the
basis of medical conditions and adverse environments,
and children with developmental disabilities and mental
health disorders. The field traces its roots to the Enlightenment, the developments within psychology, and the
differentiation of pediatrics from medicine. In the United
States, it became a distinct subspecialty in the late 20th
century, the time of great advances in social and political thinking about civil rights, disabilities, and mental
health. The history includes development of a society,
journal, training programs, and subspecialty board certification. In the 21st century, developmental-behavioral
pediatrics plays key roles in academic medicine, clinical
service, and community advocacy.
REFERENCES
American Academy of Pediatrics, Committee on Standards of Child
Health: Standards of Child Health Care, 2nd edition. Evanston, IL:
American Academy of Pediatrics, 1972.
American Academy of Pediatrics Historical Archives Advisory Committee: Committee report: American pediatrics: Milestones at the
millennium. Pediatrics 107:1482-1491, 2001.
Association of University Centers on Disabilities: AUCD history. June
7, 2004. Available at: http://www.aucd.org/about/history.htm.
Accessed January 29, 2007.
Biasini FJ, Grupe L, Huffman L, Bray NW: Mental retardation:
A symptom and a syndrome. In Netherton S, Holmes D, Walker
CE (eds): Child and Adolescent Psychological Disorders: A Comprehensive Textbook. New York, Oxford University Press, 1999,
pp 2-23.
Campbell FA, Ramey CT, Pungello E, et al: Early childhood education: Young adult outcomes from the abecedarian project. Appl
Dev Sci 6:42-57, 2002.
Carey WB: History of developmental-behavioral pediatrics. J Dev
Behav Pediatr 24:215, 2003.
Committee on Children with Disabilities American Academy of
Pediatrics: Developmental surveillance and screening of infants
and young children. Pediatrics 108:192-196, 2001.
Dworkin PH, Shonkoff JP, Leviton A, Levine MD: Training in
developmental pediatrics: How practitioners perceive the gap. Am
J Dis Child 133:709-712, 1979.
Haggerty RJ: Some steps needed to ensure the health of Americas
children: Lessons learned from 50 years in pediatrics. Ambulat
Pediatr 6:123, 2006.
Haggerty RJ, Friedman SB: History of developmental-behavioral pediatrics. J Dev Behav Pediatr 24(1 Suppl):S1-S18, 2003.
Hoover HR: Address to the White House Conference on Child Health
and Protection, 1930. In Woolley J, Peters G (eds): The American Presidency Project [online]. Santa Barbara, CA, University of
California (hosted) Gerhard Peters database. Available at www.
presidency.ucsb.edu/ws/?pid-22442. Accessed September 3, 2008.
12
Chapter 1
Part I
Life stages
2 PREGNANCY, BIRTH,
After the initial surprise and the long, bumpy ride of pregnancy, I finally had my baby home with
me. I couldnt believe how tiny she was. She needed me for everythingshe had to learn about me,
about our family, and our home. Even after all our planning and expectation, I felt totally unprepared to become her parent. That first week at home I went in to check her sleep every couple of
hours to make sure she was breathing. I tried to prevent her from cryingyet she seemed to cry
all the time she was awake. She fed every couple of hours at first, and we both had to learn how
to use my breasts for feeding. I had so many questions about what to do with and for my baby.
I felt constantly exhausted, worried, and nervous. But she was mine, I had worked hard to have
her home with me, and I felt so happy and proud.
Words of a postpartum primiparous mother of a 1-week-old,
full-term, appropriate weight for gestational age healthy newborn.
PREGNANCY
Fetal life marks the emergence and initial growth of
the infant organism and the infant-parent relationship.
As the fetus grows in size, draws increasingly from the
mothers supply systems, initiates autonomous activity
and discrete reactivity, and ultimately demands to begin extrauterine life, so too the developing pregnancy
gives shape to a growing sense of emotional connection,
relationship, upheaval, and commitment in the expectant parents. Although stressful biologic or psychological
conditions can overwhelm and disturb this natural proc
ess of somatopsychic development of the child and of
the childs primary caregiving relationships, childbearing offers every parent the chance to start over, to make
a profound contribution to others, and, ultimately, to
feel human.
The work of pregnancy involves at least five psychological domains and social circumstances. All contribute
to perinatal outcome and to parents will and capacity
to support long-term health and development. Pediatricians who meet with expectant parents can use these five
14
Ask the expectant parents where they live and how they
each currently occupy their time. Are they planning any
changes around the birth of the new baby? How much
time off will mother and father take from commitments
outside of parenting? Where do their families live?
How close are they to family members, physically and
emotionally? How did their own parents rear them?
What roles did parents and children play in their family
of origin? These questions should spark insights by, as
well as issues for, the expectant parents regarding possible changes in the direction, intensity, and commitment of their relationships to specific individuals and
pursuits.
4. History of Loss
15
Metabolic Influences
Studies of the effects on newborn behavior of antepartum
maternal metabolism have focused on gestational and
pregestational diabetes as an exemplary model. Although
influence on long-term neurodevelopmental outcome is
inconclusive, direct effects on the behavioral organization of newborns are measurable (Pressler et al, 1999;
Rizzo et al, 1990; Silverman et al, 1991). Compared
with infants matched for gestational age, birth weight,
perinatal complications, socioeconomic status, and ethnicity, but whose mothers were in better glucose regulation, study infants showed poorer physiologic control,
more immature motor processes, and weaker interactive
capacities. Important questions remain to be answered
concerning whether these neurobehavioral deficits mark
teratogenic influences that will challenge behavioral proc
esses throughout development, or whether these differences are transient effects dependent on active exposure
to maternal fuels. Nonetheless, clinicians must recognize
and respond to the potential for initial parental difficulty
understanding the behavioral cues of these newborns.
The potential concerns for the neurobehavioral effects
of maternal glucose dysregulation loom large as the public health consequences of the metabolic syndrome affect
an increasingly pervasive cross section of the U.S. population at ever younger ages. Increasing rates of obesity
in children and adults in the United States have caused a
concomitant increase in rates of gestational diabetes.
16
Substance Exposure
The developing brain and nervous system are constantly exposed and responsive to various conditions,
substances, and stimuli from the external environment. Perinatal medical risks and intrauterine exposure to chemicals used by, prescribed to, or passively
experienced by women during pregnancy and birthing
contribute to newborn behavioral characteristics and
risks. Among the more pervasive (yet underrecognized)
toxicants to fetal and infant growth and development
is tobacco smoke. Studies converge on dose-related
neurobehavioral effects on visual orienting and motor
excitability (Garcia-Algar et al, 2001; Law et al, 2003;
MacArthur and Knox, 1988) and newborn length and
weight (Andres and Day, 2000). Smoking during pregnancy is responsible for 20% to 30% of all low-birthweight infants. Exposed infants weigh an average of 150
to 250 g less than infants born to nonsmoking mothers. Two mechanisms are postulated for the negative
effect of intrauterine tobacco exposure. Metabolites of
cigarette smoke pass through the placenta and act as
vasoconstrictors, reducing uterine blood flow as much
as 38% and causing fetal hypoxia-ischemia and malnutrition (Suzuki et al, 1980). In addition, nicotine is a neurotoxicant that directly alters synaptic cell proliferation,
differentiation, and activity (Levin and Slotkin, 1998).
Chemical and behavioral tobacco addiction treatment
modalities have proven efficacy and safety when used
during pregnancy (Rayburn and Bogenschutz, 2004).
Fetal alcohol syndrome represents the tip of an iceberg of physical, developmental, and neuropsychologic
sequelae that can result from maternal alcohol use during pregnancy (Hoyme et al, 2005; Johnson et al, 1996;
Mattson et al, 1996). Coles and colleagues (2002) reported on longitudinal correlations between neonatal
findings associated with fetal alcohol syndrome and
global intelligence and academic functioning into early
adolescence. Infants with more dysmorphic features tend
to have lower birth weights and a range of behavioral
deficits of arousal, motor organization, state regulation,
and orientation as newborns, and lower IQ, academic
deficits, and less visual attention as adolescents (Coles
et al, 2002).
The behavioral effects of narcotic drugs on the developing fetus have been a long-standing concern. Heroinaddicted newborns are at high risk for sleep disturbances
(with abnormal electroencephalograms), growth retardation, central nervous system (CNS) irritability associated with narcotic withdrawal, sudden infant death
syndrome, and behavioral disorganization of state and
alerting and motor processes (Desmond and Wilson,
1975; Strauss et al, 1975). Similar findings have been
reported for infants prenatally exposed to methadone
and numerous other narcotic and non-narcotic drugs.
Quality of prenatal care, maternal nutrition, and home
environment compound, or even exceed, the developmental risks associated with maternal drug addiction.
The potential neurodevelopmental and behavioral
effects of cocaine on infants are of serious concern,
ranging from perinatal cerebral infarction to intrauterine growth retardation, abnormal sleep and feeding
17
18
Characteristics
Quiet sleep
Regular breathing, eyes closed; spontaneous activity confined to startles and jerky movements at regular
intervals. Responses to external stimuli are partially inhibited, and any response is likely to be delayed.
No eye movements, and state changes are less likely after stimuli or startles than in other states.
Irregular breathing patterns, sucking movements, eyes closed, but rapid eye movements can be detected
underneath the closed lids. Infants also have some low-level and irregular motor activity. Startles occur
in response to external stimuli and can produce a change of state.
While the newborn is semidozing, eyes may be open or closed; eyelids often flutter; activity level variable and
interspersed with mild startles. Drowsy newborns are responsive to sensory stimuli, but with some delay,
and state change frequently follows stimulation.
A bright alert look, with attention focused on sources of auditory or visual stimuli; motor activity is inhibited
while attending to stimuli.
Eyes open, considerable motor activity, thrusting movements of extremities, and occasional startles set off by
activity; reactive to external stimulation with an increase in startles or motor activity. Discrete responses are
difficult to distinguish because of general high activity level.
Intense irritability in the form of sustained crying, and jerky limb movement. This state is difficult to break
through with stimulation.
Active sleep
Drowsiness
Alert inactivity
Active awake
Crying
Data from Brazelton TB: Neonatal Behavioral Assessment Scale, 2nd ed. London, Heinemann, 1984.
a particular state. A newborn displays a different pattern of responsiveness at the beginning of an alert period
compared with the end of the period. This difference is
analogous to the daytime pattern of adults who commonly go through periods of higher and lower arousal
while awake. This pattern, called the basic rest-activity
cycle by Aserinsky and Kleitman (1955), is distinct from
the sleep-wake cycle and is theoretically related to the
cyclic activity of the autonomic nervous system. The autonomic nervous system mediates the infants responsivity to the external environment and is responsible for
regulating numerous homeostatic functions.
Neonatal behavioral and psychophysiologic measures
of state organization are now among the most frequently
applied methods in neonatal behavioral research. These
techniques highlight maturational differences between
preterm and term infants that could affect their responses
to caregiving and treatment practices. Research findings
suggest that the underlying difference in CNS organization between premature and full-term infants lies in
an unevenness in the development of premature infants.
Aspects of greater CNS maturity (more alertness and
less sleep) coexist with characteristics of less CNS maturity (more nonalert waking activity and more frequent
sleep-wake transitions). As Davis and Thoman (1987)
conclude, premature infants exhibit irregular state development compared with full-term infants, rather than
either increased maturity or immaturity.
These early neurobehavioral differences between
infants of different gestational ages could reflect
significant changes in brain organization that may continue throughout childhood development. Long-term
follow-up studies of preterm infants tend to find that
the mental development and neurologic status of medically uncompromised preterm infants at school age does
not differ from that of full-terms (Bakeman and Brown,
1980; Saint-Anne Dargassies, 1979), yet these same
children are more likely to show visuomotor and spatial
difficulties, with associated school underachievement
(Hack et al, 1994; Hunt et al, 1982; Klein et al, 1985).
More recent reports of 25- to 30-year follow-up of
developmental and behavioral functioning among
very-low-birth-weight infants in adulthood reveal decided disadvantage with respect to educational achievement and neurosensory impairments (Hack et al, 2002).
Infants who experience severe perinatal medical complications, such as bronchopulmonary dysplasia or
severe intracranial hemorrhage, are more vulnerable to
continued long-term neurodevelopmental disabilities
(Brazy et al, 1991; Vohr et al, 1991).
The infant cry state is attracting interest in the effort to develop predictive measures of CNS functioning based on newborn behavior. Successful prediction
of developmental outcome from neonatal cry analyses
corroborates a relationship between the characteristics
of the infants cry and the functional integrity of the
infants nervous system (Lester, 1987).
Sensory-Perceptual Functions
Temperament
The preceding discussion highlighted aspects of behavioral and neurobiologic development that are common
to all infants. Differences in development were noted to
19
Description
Activity level
Motor level of a childs functioning. The ratio of active to inactive periods each day (e.g., infant
may move often even during sleep)
General magnitude of response, regardless of affective direction (e.g., cries loudly for all needs,
also vocalizes with audible vigor)
Predominance of contented, positive behavior versus irritable, negative disposition, regardless
of intensity (e.g., generally calm, smiling, easily engaged versus fussy)
Predictability or unpredictability of biologic or behavioral patterns (e.g., sleep-wake cycle, hunger,
feeding pattern, elimination schedule, crying, and alerting)
Amount of stimulation required to elicit a response (e.g., rapidity of buildup to full cry when handled)
Initial response to a new stimulus (e.g., new food, toy, person, or room). Responses are observed
through mood (e.g., smiling, grimacing, or crying) or activity (e.g., in infancy, by calming,
squirming, or spitting)
Eventual response to a new or changed environment or condition (e.g., acceptance of bottle or
babysitter)
Two related categories describing the duration of effort at a task or activity and the continuation
at task, despite attention to distractions (e.g., prolonged visual fixation and orienting)
Infants susceptibility to changing attention or activity when presented with interfering stimuli
(e.g., diverted from visual attention by extraneous sound stimulus)
Intensity of reaction
Quality of mood
Rhythmicity or regularity
Threshold of responsiveness
Approach or withdrawal
Adaptability
Attention span and persistence
Distractibility
Adapted from Chess S, Thomas A: Temperament in Clinical Practice. New York, Guilford Press, 1986, pp 273-278.
Culture
Culture may influence newborn behavior, growth, and
development, representing the biobehavioral nexus of
the developing nervous system within an evolving society. Generational exposure to child rearing, dietary,
environmental, and health care practices and conditions
may genetically shape infant behavior. Culturally mandated parental expectations and guidance can influence
patterns of caregiver-infant interactions, molding each
individuals developmental trajectory within acceptable
or imaginable bounds. Culturally specific and crosscultural investigations help to inform an appreciation
of the impact of the caregiving environment on the
biologic expression of our genetic code and the evolving expression of human behavior (Cole, 1999; Nugent
et al, 1989, 1991).
20
can observe the parents personal responses to each behavior. Newborn infants not only are hard to resist, but
also parents can hardly resist projecting intentionality
about the infants movements, sounds, and sleep-wake
states. An observant practitioner can make use of such
affect, whether positive or not, for diagnostic and therapeutic advantage. The infant is a most effective psychotherapeutic agent in the hands of an attentive pediatric
professional who uses the newborn assessment to engage the familys love and attention for their child.
Breastfeeding
Increasingly, American women are choosing to breastfeed their newborns. By 2004, 70% of newborns were
breastfed, a 25% increase over the previous 10 years
(National Immunization Survey, 2004). Less than half of
the original number continue to be breastfed 6 months
after birth (Neifert, 1996), despite empirical evidence
that human milk is nutritionally superior to synthetically prepared formula and significantly reduces the risk
of many common illnesses, including diarrheal diseases,
lower respiratory infections, otitis media, bacteremia,
meningitis, and allergies (Lawrence, 1994). New studies
support the health benefits of human milk for hospitalized preterm infants (Schanler and Hurst, 1994). The
composition of milk expressed from postpartum women
changes over time and over the course of each feeding.
Protein and lipid content of human milk adapts to the
needs and capacities of the infants intestinal and immunologic systems at each stage of development.
Efforts to guide and support successful initiation of
breastfeeding are extremely challenged by the current
practice of discharging healthy newborns and mothers
from the hospital 1 to 2 days after birth. Few women
have begun lactating confidently by then. Many return
home without help for childcare or social support. While
lobbying hospitals for postpartum stays determined by
the needs of individual families, health providers should
augment the traditional pediatric care of newborns with
early office and home visits as necessary.
21
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23
growth. For each developmental process, possible normal variations and indications for clinical concern are
described.
SOCIAL-EMOTIONAL DEVELOPMENT
Clinical expectations for adaptive sequential socialemotional and interactive patterns have been formulated
based on progressive understanding of how infants form
relationships and interact with their caregiver as described in the transactional model. The process by which
parents support a childs attempts at self-regulation can
be understood further as mutual regulationa process
by which infants thrive through the support and responsive interactions provided by their caregivers. Similarly,
the infants response to the caregiver (e.g., whether enthusiastic or flat) shapes the parents behavior. Three
theoretical constructsattachment/separation, joint
attention/social referencing, and autonomy/mastery
provide a framework for additional understanding of
social-emotional development on a clinical level.
Attachment
Attachment describes the discriminating, enduring, and
specific affective bond that children develop with caregivers. Some authors use the term bonding to describe
the comparable bonds that caregivers develop with infants, but we use the term attachment for both aspects
of the relationship. Attachment is bidirectional; there is
attachment of the primary caregiver to the infant and
attachment of the infant to the primary caregiver, although they can be asymmetric. Although infant behaviors that create and maintain this bond vary from one
developmental stage to the next, they serve to maintain
the childs internal security.
The process of attachment begins in utero. With quickening, parents begin to perceive the fetus as a separate
individual and enter into an intense relationship with
the imagined child-to-be. Newborns and even fetuses
know their own mothers voice. Non-nutritive sucking
(Mehler et al, 1978) and fetal heart rate increase
(Kisilevsky et al, 2003) in response to their mothers
voice compared with the voice of a stranger. After birth,
parents modify the expectations, hopes, and fears that
evolved during the pregnancy as they become acquainted
with the real infant. Parents who are emotionally available, sensitive, perceptive, and effective at meeting the
needs of their infant throughout the early months of life
are likely to have securely attached infants.
The infant also contributes to the relationship. An
alert infant who reacts readily to parents faces and
responds promptly to consoling maneuvers enhances
parents positive feelings and a sense of competence.
Conversely, a drowsy, relatively hypotonic infant who
provides less satisfying feedback may disappoint parents
anticipating emotional satisfaction from their infant.
Empirical studies and meta-analyses have shown security of attachment to be predicted by (1) caregivers
current representations of their own childhood experiences as expressed by their attachment experiences and
(2) caregivers sensitive responsivity to their infants
cues during the first year of life (Meins, 1999). Selfunderstanding for parents comes through a long proc
ess, in which they review their upbringing on their own
and with their spouse or partner, relatives, friends, other
parents, and professionals (Siegel and Hartzell, 2003).
Parents self-understanding greatly enhances their ability to be good parents and to foster the best possible
development in their child (van Ijzendoorn, 1995).
Most families require several months before they feel
they know their infant. During this initial attachment
period, parents strive through trial and error to understand their infants needs for food, rest, or social interaction. Parents begin to show an intuitive understanding
of how to enhance their childs social responsiveness.
In face-to-face interactions, parents exaggerate their facial expressions (eyebrows go up, mouths open wide)
and slow their vocalizations (parent-eseconversation
consists of aahs and oohs.) in response to the infants limited ability to process social information. In
response to such maneuvers, the infants eyelids widen,
the pupils dilate, and mouths become rounded. These
signs of social interest occur long before the development of responsive smiling at 6 to 8 weeks of age.
A newborn has all the necessary neurologic coordination
to perform the seven universal facial expressions (happiness, sadness, surprise, interest, disgust, fear, and anger)
and is able to produce them; these expressions are much
more readily identifiable at 2 to 3 months of age and are
responsive to environmental cues by 6 months of age
(Walker-Andrews, 1998).
By 3 months of age, the child and parents achieve
social synchrony manifested by reciprocal vocal and affective exchanges. Parental displays of pleasure are followed by smiling, cooing, and movement in the infant.
When the excitement peaks, the infant transiently disengages to reorganize for another cycle of excitement.
Infants also initiate these pleasurable exchanges.
The next important step in the attachment process is
the development of a clear preference for primary caregivers. By 3 to 5 months of age, an infant stops crying
more readily for familiar caregivers than for strangers.
Infants smile sooner and more brightly for their parents, and this clear behavioral preference enhances the
parents formation of positive emotional ties to their infants. As recall memory for absent objects emerges between 7 and 9 months of age, the infants preference for
25
primary caregivers produces the well-recognized phenomena of separation protest and stranger awareness
or anxiety. If these normal developmental milestones
are misattributed by caregivers or others to spoiling,
inappropriately punitive responses may be made, increasing the infants distress further.
Attachment involves close proximity and provides a
secure base, which allows infants to explore their world.
Initially, attachment figures provide a sense of security
by their physical presence. Later in the first year, infants
internalize their relationship with attachment figures,
leading to an internal model of security. By 18 months
of age, infants have the ability to conjure an image of
the attachment figure in their mind (memory), which
helps comfort them in times of stress. An example, commonly observed when children are dropped off at childcare, is a child who walks around aimlessly repeating
Mommy, mommy, mommy. The child is working to
maintain the image of the mother and a sense of security
by repeating her name in the face of her leaving.
The two behavioral hallmarks of a secure attachment
relationship in the first 2 years of life are security and exploration (Sroufe, 1979). Infants must have a secure attachment to explore their environment. Without a secure
home base, infants cannot move outward effectively.
This sense of self and other as different and important
beings embodies core expectations about the trustworthiness and dependability of others in ones world; these
concepts are often referred to as an internalized working model and can be seen in infants behavior as they
use their parents as a secure base to explore the world
progressively.
The creation of a secure relationship of attachment
requires consistent availability of adults who are affectionate and responsive to the childs physical and emotional needsalthough sensitivity is not the only factor
contributing to attachment security. Other factors to
consider include mutuality and synchrony, stimulation,
positive attitude, and emotional support (de Wolff and
van Ijzendoorn, 1997). Children given the opportunity
to develop a secure relationship possess a foundation
on which to build positive relationships with peers and
unrelated adults. Childrens secure attachment to caregivers also is associated at a later age with more effective coping with stress and better performance at school
(Sroufe, 1988; Waters et al, 1979). The possibility of
forming these relationships with more than one caring
adult has been tested in studies of adoptive families and
communal living situations. Most adoptive mothers and
their infants adopted before 6 months of age develop
warm and secure attachment relationships (Singer et al,
1985). In the community relationship of the kibbutz or
in African villages, children form attachment relationships of similar quality with nonfamilial caregivers (Sagi
et al, 1995).
Studying Attachment
The research method commonly used to describe infant
attachment is called the strange situation (Ainsworth,
1979). The purpose of the paradigm is to assess the
quality of infants attachment to parents and to evaluate
infants capacities for coping with stress. The separation
26
Separation
On the flip side of maintaining attachment, negotiation
of separation, both psychological and physical, poses a
continuous challenge to parents and children. In psychiatric theory, best outlined by Mahler and associates (1975), separation refers to the internal processes
by which the child evolves a satisfying identity as an
individual distinct from the parents. Depending on the
psychological context, actual physical separations can
enhance or impede the childs ability to develop a comfortable individuality. As the reliable physical availability
to responsive caregivers encourages the infants efforts
toward independence, a complementary process of acceptance of the childs internal separation must occur
within the parents. Some parents accept an infants total dependence, but have difficulty tolerating a toddlers
striving for an independent identity.
e mphasis on socialization goals and child-rearing strategies consonant with an individualistic orientation,
whereas Puerto Rican mothers place greater focus on
goals and strategies consistent with a sociocentric orientation. Puerto Rican mothers were more likely than Anglo mothers to structure their infants behaviors directly
(Harwood et al, 1999).
One of the most intriguing studies on cultural variations in infancy involved comparing American and
Chinese mothers telling stories to their young children
(Wang et al, 2000). American mothers and children
showed a highly elaborative, independently oriented
conversational style in which they co-constructed their
memories and stories by elaborating on each others
responses, focusing on the childs direction. Chinese
mother-child dyads employed a less elaborative, interdependently oriented conversational style in which mothers
frequently posed and repeated factual questions and
showed great concern with moral rules and behavioral
standards. The impact of these differences in motherchild interaction on later memory, storytelling, and cultural identification is the focus of active research.
Clinical Implications
Parental sensitivity is a necessary but insufficient condition of attachment security (de Wolff and van Ijzendoorn, 1997). Parents burdened by illness, psychiatric
impairment, drug abuse, or other crises may find it particularly difficult to respond warmly and consistently
to an infants frequent demands. Infants and toddlers
who have experienced chronically inconsistent nurturing may seem uninterested in exploring the surrounding
world, even in the caregivers presence. Some of these
children appear clingy without the presence of obvious
stress. Others appear actively angry and distrustful of
their primary caregivers, ignoring or resisting caregivers efforts to comfort them after brief separations or
other stress (Sroufe, 1979). The possible role of behavioral genetics in attachment and temperament is a topic
of current research (Hobcraft, 2006).
A serious disturbance of the attachment process may
be suspected when otherwise typically developing infants between the ages of 9 months and 2 years fail to
show a behavioral preference for familiar caregivers in
response to stress. Lack of discriminate attachment behaviors toward familiar caregivers can be an ominous
sign requiring the clinician to search for developmental
delay in the child, serious family dysfunction, neglect,
or abuse (Gaensbauer and Sands, 1979). Long separation from parents and disorganized patterns of multiple
caregivingconditions that occur in many prolonged
hospitalizations and separationsalso can produce indiscriminate attachment behaviors. These are not immutable. When a child exhibits indiscriminate, avoidant, or
resistant attachment behaviors, caregivers continuous
availability, warmth, and responsiveness, whether the
child is at home, in childcare, or in the hospital, may
restore a more secure attachment pattern (Zuckerman
et al, 2005). Hospital and childcare personnel should
provide the child with one or two nurses or teachers
who are assigned consistently to augment parents efforts to restore the childs sense of internal security.
If the childs avoidant, resistant, or indiscriminate attachment behaviors persist, mental health referral for
the family is indicated.
The childs and parents responses to everyday experiences of physical separation, such as bedtime, childcare, parental travel, or hospitalization of the parent or
child, can vary widely. In assessing the developmental
progress of the childs internal process of separation, the
parents and the child show mixed feelings about separations. Brief, predictable physical separations from the
parents facilitate successful psychological separation for
young children. The first such separation occurs when
the infant is put to bed alone at night. The next occurs
the first time parents leave their infant with a relative
or babysitter. Most parents are uncomfortable with
these first separations. When parents express apparently
disproportionate anxiety about their childs well-being
during routine separations, they are often expressing
ambivalence about the childs evolution of independence. Explicit discussion of the parents feelings about
internal and external separations can be more effective
than reassurance about the ostensible concern. For example, the clinician might suggest, its not easy for parents to be away from their babies.
Initial difficulties with separation subside only to
become acute again when, at 7 to 9 months of age, children begin to show separation distress by crying whenever the caregiver leaves their presence. Clinicians can
help parents recognize that the separation distress that
results from normal cognitive phenomena diminishes as
the child learns from multiple brief separations and reunions that parents reliably return.
As the psychological process of separation proceeds,
the child develops the ability to form relationships with
caregivers other than the parents. Parents can facilitate
the formation of these new relationships by their physical availability to the child as the relationship is first
formed. A new babysitter should be introduced with a
parent present for at least 1 day, as is the best practice when the child is starting at a new childcare center.
Slowly increasing the duration of separation may aid
the child in a smooth transition, but regressive behavior on reunion with the parent should be expected and
should trigger verbalization and comfort (We missed
each other, didnt we), rather than scolding (Big girls
dont cry)
Overwhelming stress, such as physical illness and the
painful experiences entailed in hospitalization, exceeds
any infants capacity to tolerate physical separation
from parents. When the child is tired or ill or has recently sustained a prolonged separation from caregivers,
the physical presence of the parent paradoxically supports the process of internal separation by preventing
the child from becoming overwhelmed by internal or
external stress. The clinician should recommend that a
parent or other familiar caregiver remain with a young
child during hospitalization (see Chapter 33).
Because the separation process is mutual, clinicians
should be alert to parental issues that can unintentionally sabotage the childs establishment of a separate
identity. This process is particularly in jeopardy when
the parents perceive the child as unusually vulnerable
27
28
Clinical Implications
Encouraging parents to engage their child in conversation, song, and natural eye contact is important from
the first days of life. Monitoring for the appearance of
social referencing and joint attention in the first 2 years
of life has become a focus of great attention in efforts for
earlier identification of social and emotional disorders,
such as autism spectrum disorders. At approximately
1 year of age, a typically developing child attempts to
obtain an object out of reach by getting the caregivers
attention through pointing, verbalizing, and making eye
contact. This behavior is often labeled protoimperative
pointing. The child looks alternatively at the object and
the caregiver in an effort to communicate his or her desire. A few months later, the typically developing child
shows protodeclarative pointing. The child points to
an interesting object, verbalizes, and looks alternatively
between the object and the caregiver simply to direct
the adults attention to the object or event of interest.
At about the same time, typically developing children
also begin bringing objects to adults just to show them,
an example of social referencing. Children with autism
spectrum disorder show impairments in some or all of
these joint attention and social referencing activities (see
Chapter 69).
Clinical Implications
29
State Control
The newborns level of arousal creates six organized
clusters of behaviors called states (see Chapter 2). During the first 3 months of life, neurophysiologic changes
(doubling of quiet sleep and diminishing latency of the
visual evoked potential) and neuroanatomic changes
(rapid myelinization and increased dendritic branching)
progressively permit the infant to regulate the state of
arousal. This improved regulation of arousal produces
increased sustained alertness, decreased crying, and
longer periods of sleep. Research spearheaded by the
Back to Sleep campaign found that prone REM
(active) sleep was associated with lower frequencies
of short arousals, body movements, and sighs, and a
shorter duration of apneas than supine REM sleep at
2 and 5 months (Skadberg and Markestad, 1997). At
2 months, there were less frequent episodes of periodic breathing during prone sleep in non-REM (quiet)
and REM sleep. Heart rate and peripheral skin temperature were higher in the prone position during both sleep
states at both ages. This observation of decreased variation in behavior and respiratory pattern may indicate
that young infants are less able to maintain adequate respiratory and metabolic homeostasis during prone sleep
than supine sleep.
Sensory abilities in infants mature rapidly during the
first year of life. Although immature, the infants innate
visual capacities are preset to select socially relevant
stimuli. The newborns visual field is relatively narrow,
and only objects at the fixed focal distance of 19 cm are
perceived clearly. Infants ignore visual stimuli that are
too close or too distant; the mothers face is seen more
clearly by the newborn than are his or her own hands.
By 2 to 3 months of age, visual accommodation matures. The infant discovers hands and other near objects.
In the first month of life, the infant has a visual acuity of
about 20/120 (Norcia et al, 1990). By 8 months of age,
the nervous system has matured enough to improve acuity to 20/30, now nearly as good as normal adult acuity (20/20). Over the next several years, acuity improves
gradually to adult levels; but the most dramatic change
is over that first 8 months.
Very young infants modify their behavior in response
to information gathered by smell and taste. By 7 days
of age, infants reliably discriminate between their own
mothers breast pads and those of other nursing mothers
(MacFarlane, 1975). Infants vary their sucking patterns
in response to the taste of breast milk, formula, and
salty or sweet liquid. The flavor aspects of food eaten by
mothers are transmitted through their milk to their infants; the odor of garlic is an example. Infants suck less
on an unsweetened liquid, such as breast milk, after they
have tasted a sweet solution. Newborns respond to dilute
sweet solutions and can differentiate varying degrees of
sweetness and different kinds of sugars. Eye contact and
sweet taste induce face preference in 9- and 12-week-old
infants, introducing the potential role of taste in inducing facial recognition (Blass and Camp, 2001).
30
Clinical Implications
Clinical Implications
As Table 3-1 illustrates, the age range for normal development of gross motor skills is wide. An important tenet
a clinician can follow in promoting development is not
to focus on a rigid timetable of motor milestones, but to
appreciate the ongoing process. Generally, infants learn
to maintain new positions weeks to months before they
can attain them voluntarily. Many infants at 6 months
of age sit briefly unsupported if placed in that position,
but cannot get themselves into a sitting position until
8 months of age. Coordinated motion from a new posture
takes even longer to develop. Most children cannot
walk independently until 4 to 5 months after they have
learned to pull themselves up to a standing position.
31
Range (mo)
4-5
3-6
3-6
7-9
6-8
8-12
10-16
14-25
29-42
*5th
to 95th percentile.
Adapted from Bayley N: Manual for the Bayley Scales of Infant Development,
2nd ed. 1993 by The Psychological Corporation. Adapted and used by
permission. All rights reserved.
COGNITIVE DEVELOPMENT
The developmental theories of Jean Piaget, as outlined
by Ginsberg and Opper (1979), provide a useful clinical
framework for understanding infant cognitive growth.
Piaget believed that infants are active initiators, not passive recipients, in learning; infants are aware of the environment and begin to modify behavior in response to
environmental demands. Infants can take in (assimilate)
information and use it to revise (accommodate) existing
mental structures, which Piaget called schemasstructures that have evolved from primitive reflex responses
and were created in response to interactions with the
environment. When confronted with a novel situation,
the infant can create new schemas or change existing
ones to revise or accommodate the new information
that does not conform to existing schemas.
Piaget organized cognitive development during the
sensorimotor period (birth to 2 years of age) into six
stages (Table 3-2). Each stage represents a temporary
equilibrium between the infants skills and the environments challenges. A toy that is too familiar no longer
32
Part I LIFE STAGES
Age
Object
Permanence
Causality
Receptive
Language
Expressive
Language
Birth-1 mo
Shifting images
Generalization of reflexes
Turns to voice
Range of cries
(hunger, pain)
Cooing; vocal
contagion
II
1-4 mo
III
4-8 mo
IV
9-12 mo
Same behavioral
repertoire for all
objects (bangs, shakes,
puts in mouth, drops)
Babbling; four
distinct syllables
Listens selectively to
familiar words;
responds to no
and other verbal
requests
Can bring familiar object
from another room;
points to parts of body
12-18 mo
VI
18 mo-2 yr
Awareness of social
function of objects;
symbolic play
centered on own
body (drinks from
toy cup)
Symbolic play directed
toward doll (gives
doll a drink)
Play
Object Permanence
Newborns behave as though the world consists of shifting images that cease to exist when they are no longer
perceived. Out of sight, out of mind is a description of
the infants world during the first stage of sensorimotor
development (stage I). Gradually, stable mental images
of absent objects and people develop. By 2 months of
age, infants continue to look expectantly at a persons
empty hand after an object has been dropped from sight
(stage II). Between 4 and 8 months of age, infants locate
a partly hidden object and visually track objects through
a vertical trajectory. If infants see an object being hidden, however, they do not search for it (stage III). Between 9 and 12 months of age, infants can find an object
that they see hidden (stage IV). At this age, however,
infants cannot retrieve an object that is moved in plain
view from one hiding place to another. By 18 months of
age, infants reliably find objects after multiple changes
of position as long as those changes are observed, but
they cannot deduce the whereabouts of an object if they
do not see it being moved (stage V). Finally, by age
2 years, toddlers have sufficient symbolic abilities to
infer a hidden objects position from other cues without
actually observing it being moved to that position (stage
VI). People and things now reliably exist for toddlers
as stable entities whether or not they are perceptually
presentan important achievement that has implications for separation and attachment behaviors. Behaviors
characteristic of each stage of the childs understanding
of object permanence are outlined in Table 3-2.
Causality
Piaget observed an orderly sequence of changes in
the childs understanding of causal relationships over
the first 2 years of life. First, infants learn to recreate
satisfying bodily sensations by maneuvers such as thumb
sucking (primary circular reaction). At about 3 months
of age, infants begin to use causal behaviors to recreate
accidentally discovered, interesting effects (secondary
circular reaction). Infants at this age repeatedly kick the
mattress once they have discovered by chance that this
behavior sets in motion a mobile above the bed. Infants
understanding of cause and effect gradually leads to increasingly specific behavior patterns aimed at particular
environmental effects. During the second year of life,
toddlers become experimenters, intent on causing novel
events rather than reinstituting familiar ones (tertiary
circular reactions). At the same time, children begin to
33
Play
Play is a window through which we come to understand the child from both inside and outside
(Sheridan, 1995). Peek-a-boo signals the emergence of
object permanence. An elaborate detour to retrieve a
ball rolled under the couch shows that the child understands invisible displacements, and repetitive dropping of food from the high chair at different heights and
angles completes many tertiary circular reactions in a
childs learning process, as long as someone is there to
pick up the food and close the circle. See Table 3-2 for
further examples.
An infants handling of objects also reflects his or
her progressive understanding of the world. At 5 to
6 months of age, an infant can reliably reach and grasp
attractive objects. At this stage, the infant subjects all
toys to the same behavioral repertoire, regardless of
their particular properties. A toy car, a bell, and a spoon
all are mouthed, shaken, banged, and dropped. By
9 months of age, the infant systematically manipulates
the object to inspect it with eyes and hands in all orientations, showing the cognitive ability to process information simultaneously instead of sequentially.
By the first birthday, the infant shows understanding
of the socially assigned function of objects. A toy car
is pushed on its wheels; a bell is rung. Next, early representational play, which reflects stable concept of objects, appears. At first, such play centers on the childs
own body as the child drinks from a toy cup or puts
34
Clinical Implications
COMMUNICATION
Communication consists of speech and language and all
the complex nonverbal and pragmatic pieces that complicate and enrich our lives and are present from the moment of birth. Speech is produced by precise coordinated
muscle actions in the head, neck, chest, and abdomen.
Language is the expression of human communication
through which knowledge, belief, and behavior can be
experienced, explained, and shared. Nonverbal communication includes smiles, body positions, tones, and
points and gestures. This section focuses more on the development of language. Similar to other developmental
phenomena, the infants acquisition of language follows a predictable sequence. Infants communicate actively from birth. Lacking words, infants communicate
through numerous sensory channels with three major
purposes to their communication efforts: (1) to regulate
another persons behavior, (2) to attract or maintain
another persons attention for social interaction, (3) to
draw joint attention to objects and events. In addition,
communicating is inherently pleasurable.
Infants can acquire reciprocal language only through
interaction with responsive sources. Television and radio
have negligible effects on language learning in infants.
Childrens experiences with language cannot be separated from their experiences with interaction because
parent-child talk is saturated with affect. Long before
they begin using words, children begin learning about
how families interact in their culture, what people are
like, and who and how valued the children themselves
are. This knowledge permeates the language system itself and influences childrens motivation to learn and
use words. Children who are sung to throughout the
day often learn these musical words earlier because
of the strong affect with which they are presented as
well as the addition of melody. Parents and infants begin to construct the basis for later language acquisition
long before infants can understand or produce a single
word.
During the first year, through games and caregiving
rituals, children learn to take turns communicating. With
vocalization and nonverbal cues, caregivers and infants
learn to direct each others attention to interesting environmental events, to signal needs and feelings, and to
interpret each others intentions. During the second year
of life, children begin to extend the rules of communication learned in action to the use of spoken words.
The actual production of meaningful communication
is the result of cognitive, oral-motor, and social proc
esses. Infant crying and parental response is the first
communication of the new dyadic relationship (LaGasse
et al, 2005). By 1 month of age, the infant has a range
of cries that parents may associate with hunger, pain,
and fatigue. Between 1 and 3 months of age, the infant
develops a range of nondistress vocalizations, onomatopoietically described as cooing. When the caregiver
imitates the infant, the infants production of sound is
prolonged. The caregivers contingent responses to these
early vocalizations shape the infants vocalization into
conversation-like patterns. Adult speech elicits and reinforces infant communication (Bloom, 1977).
By 3 to 4 months of age, infants can produce repetition of all vowel sounds and some consonants, although
some of these sounds are opportunistic. At least two
distinct syllables are produced. As babbling matures, infants produce repetitive two-syllable combinations, such
as mama and dada, although at this time these combinations have no symbolic reference.
The emergence of actual words, or sounds used as
symbols, depends on the infants attainment of rudimentary object permanence. Before a person or object can
be named, it must have a stable existence in the infants
mind. Not surprisingly, the first true words usually refer to parents and other family members because the
Clinical Implications
35
do not result from spoiling or laziness, as parents sometimes suggest (e.g., He never has to ask for anything).
Chapter 72 describes full evaluation and treatment of
language impairments.
Literacy also may begin during infancy (McLane and
McNamee, 1991). Through exposure to books, signs,
and a world of readers, infants gradually become increasingly aware of the importance of written language.
Infants use their keen powers of observation and their
desire to imitate activity to learn about books and written language long before they can read and write. Sharing books with children can start interest at 6 months of
age when infants may merely pat the faces in a picture
book. Book sharing enhances parent-child relationships
by establishing an enjoyable joint activity that persists
through early childhood (Needlman et al, 2005).
PHYSICAL GROWTH
Caregivers must provide infants with nutrients to sustain
the rapid growth of body and brain, which is greater
during the first 2 years of life than at any other time
after birth. An infants own feeding behavior also affects the intake of adequate nutrition. At birth, an infant
has a rooting reflex that helps in locating the nipple. An
extrusion reflex pushes out solids to prevent ingestion
of inappropriate foods. The infants small, elongated
mouth, combined with forward and backward movements of the tongue, squeeze the nipple so that milk is
suckled.
Extrusionand rooting reflexes disappear after 4 months
of age. By 3 months, as the mouth enlarges, neuromaturation of the cheek and tongue allows the infant to become
progressively efficient at true sucking, which employs
negative pressure to obtain milk from the nipple. By 6
to 8 months of age, infants begin chewing motions and
are able to close their lips over the rim of a cup and
drink. By 9 to 12 months of age, the development of the
pincer grasp permits the child to eat finger foods. During the second year of life, infants acquire the ability to
use a spoon and hold a cup or bottle. Parental concerns
about messiness, decreased appetite, and selective tastes
emerge at this time.
Infant nutrition affects concurrent and future growth
patterns. Overfeeding and underfeeding can jeopardize
the infants later well-being. During this period of rapid
growth, the brain is uniquely vulnerable to nutritional
insult. Seventy percent of adult brain weight is attained
by 2 years of age.
Although growth of the brain is the most critical
organic achievement of infancy, most adult attention
focuses on the rapid growth of the infants body. For
infants born at term between 2500 and 4000 g, birth
weight should approximately double by 5 months of
age, triple by 1 year of age, and quadruple by 2 years
of age. Length at birth increases 50% in the first year of
life and doubles by age 4 years. The rate of growth and
consequent caloric requirement per unit of body weight
decline gradually over the first 2 years of life. As caloric
needs change during maturation, so does the infants
capacity to ingest and digest an increasing variety of
foods.
36
Clinical Implications
SUMMARY
An understanding of infant and toddler development
and behavior provides a framework for child care during the first 2 years of life. To promote or assess a childs
development, aspects of nature and nurture need
to be identified and understood. Surveillance and referral about infant behavior has two goals: (1) to nurture
the childs primary attachment and promote its development (internal security, self-control, and adaptive
autonomy), while decreasing parent-child conflicts and
increasing the parents understanding and empathy for
the child, and (2) to identify remediable disabilities and
problems. This knowledge can be organized by a transactional model for child development, which stresses
the contributions of the child and caregiver to developmental outcome. Usually, the child health professional
is the only professional involved with families of young
children, and he or she may be able to prevent unnecessary parental concerns or parent-child conflicts that can
contribute to later behavior disturbances. When developmental delays, sensory deficits, or serious behavioral
problems already exist, the clinician can minimize their
long-term impact by early identification and appropriate management and referral and providing ongoing
support to the family. Changing the delivery method of
primary care to families may be necessary to make this
change a reality (Bethell et al, 2004; Kuo et al, 2006;
Zuckerman et al, 2004).
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Casey PH, Kraemer HC, Bernbaum J, et al: Growth status and growth
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Ferber R: Solve Your Childs Sleep Problems: New, Revised, and Expanded Edition. New York: Simon & Schuster, 2006.
Fireman L: Colic. Pediatr Rev 27:357-358, 2006.
Friman P: Concurrent habits. Am J Dis Child 144:1316, 1990.
Gaensbauer TJ, Sands K: Distorted affective communications in
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Garcia J, Wills L: Sleep disorders in children and teens: Helping patients and their families get some rest. Postgrad Med 107:161-178,
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Gohlke BC, Stanhope R: Final height in psychosocial short stature: Is
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in maternal beliefs and behaviors: A study of middle-class Anglo
37
38
PRESCHOOL YEARS
Sara C. Hamel and Amanda Pelphrey
Vignette
Annie has recently turned 3 years old, and her parents have brought her for a well-child visit. They
are concerned about her speech because they cannot understand some of the things that she
says. Annies parents further question whether she is ready for preschool, which will be starting in 2
months, because she seems immature for her age. Annie was adopted from China at age 21 months.
She appeared healthy and well grown at that time, but had very little expressive language. She was
evaluated by an international adoptions specialist after arriving in the United States and was deemed
healthy. Her parents were reassured that she would catch up with her development, and she was
speaking in English at age-appropriate levels within 6 months. Currently, Annie has age-appropriate
gross motor coordination; feeds herself; likes to scribble; and loves playing with dolls, kitchen sets,
stuffed animals, and doctor kits. She has just achieved consistent toilet use with only an occasional
wetting episode, although she still wears Pull-ups at night. Annie speaks in full sentences, but has
trouble with the pronunciation of r and l sounds. Sleep is marked by preferring to have someone stay
with her when she falls asleep, and she wakes two or three times each night calling for her parents or
visiting them in their bed. Annie can be clingy when she goes to her dance class and usually needs
extra encouragement to participate. She also can be demanding, crying and whining when her wishes
are not immediately honored.
Is Annie immature for her age? Should she go to preschool? What other advice or discussion
might Annies parents benefit from at the well-child visit?
MAJOR TASKS
This chapter covers the period between 2 years and
5 years, which is divided into two parts: (1) 2- to 3-year-old
children (pre-preschoolers) and (2) 3- to 5-year-old children (more truly preschool).
The period between ages 2 and 3 also could be termed
late toddlerhood and is a time when children are still
consolidating the basic skills needed to participate optimally in a preschool setting. The hallmark of this age
is the miraculously rapid development of functional language; improved gross motor coordination; refinement
of basic fine motor skills for eating and manipulating
objects; increased knowledge about concepts of shapes,
colors, and daily routines; and social skills, such as sharing or saying please and thank you. These skills
are necessary for children to achieve a measure of functional autonomy or independence with respect to eating,
drinking, playing, toileting, dressing, and getting along
with others. This is an age of tremendous developmental
growth and is usually accompanied by some degree of
emotional reactivity as children strive to gain increasing self-control. Autonomy and self-control are the two
most important psychological tasks of 2- to 3-year-old
children, and they are occurring in conjunction with unprecedented development of language and cognition.
Preschoolers 3 to 5 years old should possess the
basic skills of a functioning individual, including
40
a ffect children of this age, and key tasks for the primary
health care clinician in supporting children of this age
and their families.
DEVELOPMENTAL DOMAINS
Motor Development
Gross motor skills at age 2 years should allow a child
to walk with good balance and fluidity, turn, pivot, and
run. Table 4-2 summarizes development in this domain.
A 2-year-old would be tentative on stairs, able to go
up better than down, initially using two feet together
on each stair. Children at this age also are beginning to
climb with better balance. By age 3 years, children can
negotiate stairs, going up and down with alternating feet,
and can ride a tricycle, run, jump, climb, and slide with
little likelihood of falling (Fig. 4-1). They are capable
of relatively independent motor functioning in a playground situation. Between 3 and 5 years, most children
learn how to hop and skip and can learn more complex
gross motor skills, such as roller skating, dancing, riding
a two-wheeler, and pumping their feet to swing.
There is wide variation in how children display balance, coordination, and overall quality of movement,
some of which is due to familial genetic factors. Some
variation may be influenced by environmental factors,
such as how much children have the opportunity to
practice and perform. Generally, all children advance in
these areas during the preschool years, so any loss of
balance, coordination, or gross motor skills during this
age would constitute a significant abnormality in need
of assessment by a physician.
With regard to fine motor skills, 2- to 3-year-olds can
use their hands for holding utensils and feeding themselves, and they gain dexterity throughout the year.
Additionally, most children master downward zipping
and taking shoes and socks off first, stacking blocks,
41
3 Years Old
4 Years Old
Reprinted with permission from the National Network for Child CareNNCC: Powell J, Smith CA: The first year. In Developmental Milestones: A Guide for
Parents. Manhattan, KS: Kansas State University Cooperative Extension Service, 1994.
a wareness of self in relation to others. This developmental period involves increased initiative in approaching
new tasks and experiences, and preschoolers are proud
of their accomplishments and actively seek approval
from caregivers (Fig. 4-2). At the same time, there may
be increasing awareness and heightened sensitivity to
self-perceptions of failing. The degree of resolution of
this internal conflict influences development of selfconcept and aspects of personality.
The emerging self is deeply rooted within the
sociocultural context, including interactions with family and community environments. During the preschool
years, children become well identified with their specific gender roles as a result of interacting biologic and
sociocultural experiences. As with learning of aggression
42
Cognitive Development
During the first 2 years of life, children rely heavily on
sensorimotor functioning for learning acquisition, by
manipulating objects, studying them, putting them in
their mouths, and beginning to experiment with objects
and developing simple concepts. Cognitive development
during the preschool period is characterized by less reliance on direct sensory experience of the world, however,
and movement toward cognition governed by principles
based on symbolic thought. Although children at this
time have not yet acquired skills for concrete reasoning,
cognition in preschoolers begins to include emergence of
categorization in efforts toward building causal reasoning skills characteristic of school-age thinking.
Often referred to as the preoperational stage of
development, children at this age rely heavily on their
own growing personal perspective of reality to make
sense of events and relationships. They have a markedly
Play Development
One of the most important advancements during the preschool years is the development of meaningful, creative,
and interactive play. Play is the activity in which children practice new skills in cognition and motor development, and in the process negotiate social relationships
and explore emerging characteristics of self-identity.
Infant play is characterized primarily by object exploration and manipulation and serves to allow the child to
discover basic cause-and-effect relationships and relationships between themselves and objects in the world.
Preschool play represents emergence of pretend play
skills, such as using a block as a telephone, or having a
tea party with parents, or playing the piano (Fig. 4-3).
Through observational learning, preschoolers rehearse
gender role behaviors, such as sweeping, washing pretend dishes, and feeding baby dolls for girls, and using
tools, driving construction vehicles, or mowing the grass
for boys. Older preschoolers enjoy dressing up as imaginary characters, such as princesses or cartoon characters, as well as in their parents clothes. In the world of
pretend play, preschoolers practice gender-specific behaviors encouraged by their sociocultural environment.
Two-year-olds are known for resistance or indifference toward interactive or cooperative play, generally
maintaining parallel play with others. They tolerate or
even welcome the presence of other children next to
them, but generally do not play cooperatively. Increased
social reciprocity emerges by age 3 and becomes increasingly refined during the preschool years. Skills in sharing, turn taking, and cooperation improve markedly by
the start of the school years, and meaningful and reciprocal peer relationships are established. Encouraging
parents to engage in daily interactive and creative play
with their children and encouraging them to schedule
frequent play dates with same-age peers help ensure development of play skills progresses smoothly for their
preschooler.
Language Development
At 24 months old, children have a basic expressive vocabulary of at least 50 words, mostly nouns and verbs,
and they begin to make combinations with these words,
such as ride car, mama up, and see baby. Twoyear-olds also should be masters of nonverbal communication, regularly pointing and often mimicking other
commonly seen instrumental and descriptive gestures in
their environment. Shortly after age 2, children start to
form short sentences, stringing more and more words
together and playing with phrases, particularly noun
phrases, such as the dirty car or mamas green
hat. They also frequently mimic common household
phrases, such as Oh, my goodness! or I knew it!
43
Moral Development
Through social learning and imitation as well as from
rewards and consequences during the preschool period,
a foundation emerges for establishing norms and values regarding concepts of right versus wrong, empathic
awareness of others, and altruism or helping of others. The balance for any individual child is the result
of a complex interaction of the childs capacities and
the familys teaching approach. There is a unique interaction between elements of cognitive development
and psychosocial development with establishment of
44
3 Years Old
4 Years Old
Reprinted with permission from the National Network for Child CareNNCC: Powell J, Smith CA: The first year. In Developmental Milestones: A Guide for
Parents. Manhattan, KS: Kansas State University Cooperative Extension Service, 1994.
Family Systems
The developmental trajectory during the preschool
years is determined by a combination of internal biologic influences with environmental influences. The
family context and parenting in particular have a major influence on preschoolers emotional and behavioral functioning. Preschoolers learn the norms of their
familys way of communicating thoughts and feelings
and the individual roles each member plays in the family. Parenting styles may differ with respect to degree of
nurturance and discipline. Classic theories classify parenting styles as authoritarian, which is characterized
by high demands and low nurturance; permissive,
which is characterized by low demands and high nurturance; or authoritative, which is characterized by firm
but democratic style combined with high nurturance
(Baumrind, 1966). Optimal child outcomes are generally associated with an authoritative approach, where
parents provide warmth and support to their children
and allow children to have input in the decision making
process, although parents optimally have the final say.
Expectations and consequences for childrens behaviors
e nvironments had low adult-to-child ratios, had caregivers with higher levels of education, and provided stimulating and structured environments (NICHD Study of
Early Child Care and Youth Development).
Of particular interest at this time is the increasing
participation in Project Head Start, which provides comprehensive preschool programming for disadvantaged
children. Project Head Start provides a structured setting for enrichment in early learning skills acquisition
similar to other traditional preschool programs. Head
Start is unique, however, in the support also provided
for physical health, social-emotional development, and
family education outreach, providing such services as nutrition education and developmental and health screens.
Research has found that improvement of general and
mental health in preschoolers is associated with high
academic achievement (Spernak et al, 2006) as studied
in children previously enrolled in Head Start. Other research has suggested a decline in initially measured gains
in the Head Start population, however, with few differences found in long-term comparison between Head
Start and nonHead Start preschoolers (Lee et al, 1990).
Psychosocial Stressors
The preschool years are a time of vast developmental
growth, but they also may be a time marked by challenges and risk factors affecting physical, cognitive, and
psychosocial developmental trajectories. One such factor
is poverty. In 2000, 16% of children in the United States
lived in poverty, and this number increased to 39% for
children living in mother-only households (Lugaila and
Overturf, 2004). The effects of poverty on the developing child span across global domains of functioning,
including physical health, cognitive development, language development, and academic achievement.
There is a positive correlation for rates of poverty and
rates of child abuse or maltreatment. Additionally, children living in poverty are more likely than children living
above the poverty line to experience lead poisoning, low
birth weight, hospitalization, growth retardation owing to nutritional deficiency, developmental delay and
learning disability, grade retention, and eventual school
drop out (Duncan et al, 1998). These effects may be
particularly evident for preschoolers. These researchers
found that preschool-age and early schoolage children
living in poverty have lower rates of school completion
than children who experience onset of poverty in later
years.
45
46
www.aap.org
www.dbpeds.org
www.brightfuture.org
www.firstsigns.org
www.cdc.gov
www.nncc.org
*The
Behavioral Screening
Standardized instruments also are available for assessing the degree of abnormality of a childs behavior and
are recommended over the use of informal clinical judgment. Instruments that can be used as routine screens
include the Ages and Stages SE, the Pediatric Symptom
Checklist, and the Child Behavior Checklist. It is especially important to perform an assessment or provide a
referral for any child for whom the parent voices a concern about a behavior problem.
and bedtime also provides an environment that minimizes stress for a young child.
2. Education of what is desirable behavior: Preschoolers
do best if they know what is going to happen next for
them, and parents talk them through confusing or difficult situations. Parents need to use simple, clear language to explain what they want preschoolers to do,
and they may have to go over the information several
times before the child has absorbed the information.
Having the child repeat back to the parent what he or
she heard also is a good strategy. Examples include
saying, After we eat, you can go sit on your potty
and Ill read you a book. If you make a poop, you
can get a big sticker on your chart. What can happen if you make a poop on your potty? Parents and
siblings who model desired behavior for preschoolers
are a very powerful influence because preschoolers
generally watch everything that goes on in a household to determine how they should behave.
3. Rewards for desirable behavior: For preschool children, the rewards should be given immediately
because their concept of time is poor. A preschooler
prefers something tangiblea hug, kiss, sticker, or
small prize of some other natureand it is reinforcing to discuss several times why a reward was given
and what a good job was done. Provision of frequent
rewards keeps the child motivated to perform the
desired behavior until it becomes routine. Usually at
that point, the rewards can be phased out without
any complaint from the child because performing the
behavior has become rewarding in and of itself. This
is important to explain to parents, who often worry
that they will need to continue rewarding their child
for every good behavior he or she performs well into
the future.
4. Negative reinforcements: These strategies include
the use of time out, where a child is removed from
a situation with the goal of decreasing unwanted
behavior, or taking away a privilege. These can be
quite powerful and should be reserved for that kind
of use.
5. Punishment: Although punishment strategies may
be effective in changing undesirable behaviors under
particular circumstances, reinforcement strategies
are often preferred because of harmful consequences
associated with physical punishment. Research has
shown that spanking often leads to increased fear,
anxiety, and aggression, and is not any more powerful than the above-mentioned strategies. Spanking is
not recommended.
The challenge is for parents to maintain consistency
with regard to monitoring the childs behavior and
providing immediate and appropriate consequences,
whether positive or negative, and the difficulty is that
the need to respond to children of this age is frequent
and intense. Children of this age can wear parents out
to the point where they give up trying to maintain consistency and give up dealing with difficult behaviors. Primary caregivers can empathize with parents regarding
the work they are doing and provide support for their
continued efforts.
Regulatory Issues
Parents of preschoolers often seek advice about regulatory issues such as toilet training, sleeping, or eating. Parenting children of this age requires patience,
understanding, constant communication, and reinforcement. Power struggles must be avoided. Because the clinician has only 10 to 15 minutes in a typical well-child
visit, written advice for parents is highly recommended.
Parenting books also are plentiful, and the clinician is
advised to stay up-to-date on what parents are reading.
Toileting
Sleeping
47
48
Social Development
Atypical Behaviors
Attention-Deficit/Hyperactivity Disorder
Attentional skills build gradually during the preschool
years, with increasing ability to maintain concentration
to tasks. Although parents of preschoolers may broach
concerns during well-child visits about possible emerging attention-deficit disorders or emerging learning difficulties, with few exceptions, learning achievement and
executive functions are not well solidified during the
preschool years and are more reliably assessed during
the school-age years (see Chapter 54). Even so, symptoms of ADHD are often present in preschool children
and must be present at least before age 7 years. Because
of caution regarding labeling behavioral pathology in
very young children, clinicians may be unresponsive to
parents concerns about how to deal with their childs
high activity levels or aggressive behaviors. Primary care
clinicians do not need to diagnose children in this age
group, but they should address parents concerns and
refer families for behavioral therapy when hyperactivity, impulsivity, or tantrum behaviors present consistent
and frequent challenges to parenting. Table 4-6 presents
common symptoms of ADHD that often emerge during
the preschool years.
Anxiety
Anxiety symptoms are common in preschool children,
often manifesting into specific fears, such as separating
from the primary caregiver during the transition into
preschool. Generally, it is recommended that parents be
patient and understanding to childhood fears, providing acceptance and understanding of their preschoolers
feelings, while offering support with coping. Anxiety
responses are often conditioned responses that can be
reduced with careful and gentle exposure to the feared
situation or object. Separation anxiety can be helped by
increasing transition times and allowing use of a transition object in the new setting.
Selective mutism is an anxiety disorder that may be
seen in children at this age especially when entering the
preschool setting or becoming increasingly a part of
other community systems. Selective mutism is characterized by failure to speak in social settings, while speaking
Hyperactivity
Impulsivity
Not following
directions
Not listening when
spoken to
Easily distractible
Shifting quickly from
one activity to the
next
Runs or climbs
excessively
Loud play and loud
talk
Talking excessively
Acts as if driven
by a motor
Darting away
from family
Not waiting turn
Intrudes on others
Lack of consideration for danger
situations
SUMMARY
We have attempted to capture the essence of the preschool years by describing the developmental skills of
children of this age, the issues facing families, the larger
sociocultural issues, and the nature of support and guidance that should be available to families in the context
of the well-child visit. Preschoolers are much more
complex than we can describe in one chapter. They are
at an exciting age full of wondrous exploration of the
world and fantastic imaginary experiences, but also an
age where if something goes wrong it can be the end of
the world. Parents need support and guidance from well
care providers to help them understand these complex
individuals and to interpret any possible developmental
and behavioral concerns.
REFERENCES
Amato PR: The consequences of divorce for adults and children.
J Marriage Fam 62:1269-1287, 2000.
Aylward G: Infant and Early Childhood Neuropsychology. New
York: Plenum Press, 1997.
Baumrind D: Effects of authoritative control on child behavior. Child
Dev 37:887-907, 1966.
49
MIDDLE CHILDHOOD
Marsha D. Rappley and James R. Kallman
Vignette
Sean is a 10-year-old boy about to enter fifth grade who presents to his pediatrician for a physical
examination required for his soccer team. He is excited about playing soccer on a travel team,
but tells you that his mother will not let him play if he doesnt do better in school. Teachers have
expressed concern that he doesnt finish his work in school, preferring to be the class clown. His
mother complains that he avoids homework, causing many battles with his parents. The pediatrician
determines that he is healthy, excels as a soccer goalie, has several good friends, enjoys participating
in a faith-based youth group, and considers himself not one of the smarter ones in his class. Seans
mother confirms that he is on probationeither he completes all of his school work and homework
without reminders, or he will be pulled from the soccer team. How can the pediatrician be useful to
this school-age child?
multiple layers of development that must be considered in evaluation and treatment of problems of middle
childhood.
35
30
a
25
Time (seconds)
51
20
15
10
a
b
c
0
7 years
10 years
7 years
10 years
Pegboard Placement
boys
girls
The rapid growth and development of middle childhood likely contributes to this high prevalence of sportsrelated injury. Compared with older children, these
children have a larger ratio of surface area to mass, a
proportionally larger head, and a larger variation in size
within a given group and so experience poor fit in activity and protective equipment. They have open growth
plates at epiphyses and growing cartilage. Finally, mastery of complex motor skills, judgment, planning abilities, and self-awareness all mature at a later age than
that at which these children enter sports (Adirim and
Cheng, 2003).
52
Grade 3
Comprehension is improving
Asks questions while reading
Creates and changes mental pictures
Rereads when confused
Applies word analysis skills
Understands elements of literature
Explains characters
Aware of different genres: humor, poetry, fiction
Uses appropriate conventions of language
Spells high-frequency words correctly
Completes sentences
Grade 6
Uses strategies to figure out unfamiliar words
Reads a variety of texts: science, math, social
studies
Summarizes what is read
Reads critically, draws conclusions
Improves comprehension
Rereads, questions, discusses
Understands elements of literature
Names author, characters, themes
Uses appropriate conventions of language
No significant spelling errors
Writes legibly
Provides detail in discussion and writing
Adapted from Council for Educational Development and Research; and
Hopkins G: Checkpoints in Reading. 2004. Available at: www.education-world.
com/a_curr/curr009.shtml. Accessed February 2, 2007.
become interested in books and writing. Children approach reading as a functional activity that allows them
to do things. Oral and written skills influence one another. Table 5-1 presents activities and behaviors that
are typical of the progressive development of reading
skills (Hopkins, 2004).
The specific language skills of listening comprehension, oral expression, reading comprehension, and written expression are developmentally stable over time and
moderately correlated with one another (Berninger et al,
2006). A comparison of fluency in drawing and writing
from age 4 to 12 years indicates that a shift occurs at
approximately age 6 years, in which writing becomes
more fluent for most children (Adi-Japha and Freeman,
2001). A fascinating illustration of the juxtaposition of
culture and language is found in the study of reading
development among Chinese children. Although the re-
53
54
between ages 3 and 12 years, it is not surprising that selfregulation of affect, behavior, and inhibitory control in
kindergarten-age children has been shown to be related
to the development of math and reading skills (Blair and
Razza, 2007). Figure 5-2 relates SES and neurocognitive
functions.
1.0
Effect Size
0.8
0.6
0.4
0.2
on
gn
ni
Vi
su
al
co
og
lc
ia
iti
tiv
e
y
or
em
M
at
Sp
si
es
oc
pr
ew
ar
ni
og
C
ng
ro
l
nt
co
tiv
e
m
ng
W
or
ki
La
ng
em
ua
or
ge
0.0
old are able to see themselves through the eyes of another person, and anticipate and consider the thoughts
and feelings of another. Approximately 10% to 20%
of children this age are able to consider a third view,
perhaps that of a teacher, a classmate, and oneself. The
ability to understand the role of another is moderately
related to intelligence, prosocial behavior, and altruism.
In addition, the ability to understand and refer to stereotypes increases between ages 6 and 10 years and is
stronger among children of stigmatized ethnic groups
than among majority groups (Hetherington et al, 2006;
McKown and Weinstein, 2003).
This marked shift away from egocentric thinking accompanies the development of mature communication
skills and of moral standards and empathy (Eisenberg
et al, 2006; Hetherington et al, 2006). Piaget described
the ages of 5 to 11 years as characterized by moral realism, which is an absolute sense of rules, and the notion
of immanent justice, which is the belief that deviation
from the rules inevitably results in punishment. Piaget
described that at approximately age 11 years, children
understand moral reciprocity. They understand that
rules can be arbitrary and are subject to question, and
that intent is important in judging right and wrong.
More recent research indicates that if presented with
information in a variety of ways, with clear depictions
of intent, and videotaped as opposed to oral or written description, 6-year-olds can evaluate and consider
intent in a moral judgment (Hetherington et al, 2006).
Kohlbergs classic depiction of six stages of moral development, acquired at various ages, but in the same
developmental progression, is affirmed by more recent
studies. A sense of justice is likely to be culturally bound,
however, especially as it is predicated on the premise of
obligations to help others and ones community or is
based on individual rights and obligations (Miller and
Bersoff, 1992).
Prosocial behavior is associated with the ability to
take anothers point of view, with moderation of expressions of emotions and insight, all mediated through
the development of empathy (Fig. 5-3) (Roberts and
Strayer, 1996). Studies of twins indicate that prosocial
behavior and empathy may be rooted in genetics and
Emotional
Expressiveness
Age
Insight
Role
Taking
Empathy
Prosocial
Behaviors
Figure 5-3. Empathy and variables related to prosocial behavior. (From Strayhorn JM, Jr., Bickel DD:
A randomized trial of individual tutoring for elementary school children with reading and behavior
difficulties. Psychological Rep 92:427-444, 2003.)
Reward-cost
stage
Grades 4-5
Normative
stage
Grades 6-7
Empathetic
stage
Data from Hetherington EM, Parke RD, Gauvain M, Locke VO: Child
Psychology: A Contemporary View, 6th ed. Boston: McGraw-Hill, 2006.
55
56
26 weeks
(preterm)
Birth
(term)
3 months
6 months
9 months
1 year
2 years
15 years
Figure 5-4. Contrast changes in the brain from birth through adolescence. (From Evans AC: The NIH MRI study of normal brain development.
Neuroimage 30:184-202, 2006.)
Thickening
Thinning
5
1.0
0.9
Age
Thick
0.8
20
Gray Matter
0.7
0.6
0.5
0.4
0.3
0.2
0.1
0.0
Thin
Figure 5-5. Maturation and thickening of temporal and frontal areas associated with language. (From Toga AW, Thompson PM, Sowell ER:
Mapping brain maturation. Trends Neurosci 29:148-159, 2006.)
on verbal tests of intelligence. It is speculated that thickening represents the differential growth process (Toga
et al, 2006); slower maturation and continued molding of the language areas of the frontal and temporal
cortex into adolescence underlies the developmental
progression during middle childhood of language and
metalinguistic awareness. It may be that this physiologic
process allows the positive influence of stimulation and
practice on language development during childhood
(Szaflarski et al, 2006).
Activation and engagement of the brain also occurs in a pattern that follows a developmental and
differential sequence. Relevant studies combine imaging techniques with neuropsychologic testing of children at different ages. Children perform specific tasks
while they are in a scanner, and the images that are
created show areas of the brain that are activated during performance of that specific task. Generally, across
tasks, young children show a pattern of diffuse and
widespread activation as they execute the task. As children get older, they show more focused and discrete
activations of specific areas of the brain. An important
part of this maturational process is a selective process
that attenuates activity in certain areas of the brain,
while engaging activity in other areas. With age, fewer
and more select regions of the brain are activated for
specific tasks.
A parallel in behavior is seen in the developmental
progression of attention, with an increasing ability to
suppress information and actions between ages 4 and
12 years (see Chapter 54). Younger children are susceptible to interference of irrelevant stimuli; the capacity to
respond selectively matures at approximately 12 years
or older (Durston and Casey, 2006). A corollary also is
observed in neuromotor development. Younger children
have more extraneous, or overflow, movements, which
recede as they grow older (Largo et al, 2003). Lack of
the maturational effect was noted in imaging studies of
children diagnosed with attention-deficit/hyperactivity disorder (ADHD). Subjects were challenged with a
task in which they had to suppress a response. The children with ADHD had a more diffuse activation pattern
and did not attenuate activation in certain areas of the
brain compared with control children without ADHD
(Durston et al, 2003).
Feedback loops and changes in connectivity between
the forebrain and the midbrain also have a developmental trajectory. The theory of cognitive control examines
how flexible regulation of thoughts and actions occurs
in the presence of competing stimuli. Functional MRI
studies show increased blood flow to the prefrontal cortex and substantia nigra in the midbrain during tasks
requiring cognitive control. These studies support theories that link the executive functions of the frontal lobe
with the dopamine-rich areas of the substantia nigra.
Diffusion tensor imaging further shows activation of
white matter fibers projecting from the ventral prefrontal cortex to the caudate nucleus while subjects perform
neuropsychologic measures of cognitive control, lending credence to this feedback loop between the prefrontal areas of the brain and the nigrostriatum (Fig. 5-6)
(Durston and Casey, 2006). Diffusion, which provides
57
58
D
Figure 5-6. Diffusion tensor imaging and
CLINICAL IMPLICATIONS
Evidence from imaging studies, observations of behavior
within the context of a social milieu, and the differential growth of cognition and language all strongly suggest that, during middle childhood, interventions that
change the environment or provide new experiences for
understanding of social stigma and stereotypes suggest important times for supporting the development
of prosocial behavior and empathy. This is the underlying premise of programs that show the effectiveness of
teachers as coaches and training of parents and teachers together to promote prosocial behavior (Barrera
et al, 2002; Grossman et al, 1997; Hetherington et al,
2006; Olweus, 1993). Studies of family functioning and
resiliency indicate that children who perceive their parents and teachers as supportive are more resilient and
empathetic (Rigby, 1993; Stewart and Sun, 2004). These
findings strongly suggest that community, education,
and health system supports for families directly benefit
school-age children.
During middle childhood, visits to the physician often concern a specific illness or need, such as the sports
physical in the vignette at the beginning of the chapter featuring Sean. Because health maintenance visits
are fewer than in early childhood, and because the
focus shifts to more pragmatic issues, it is possible inadvertently to neglect opportunities for prevention and
intervention. Height and weight continue to be salient
markers of overall health and should be monitored regularly. Neuromuscular development and participation
in sports provides an opportunity to explore self-esteem,
impulse control, and expectations of self and family.
Lack of participation in sports may provide an opportunity for validation from a respected authority figure
for an alternative avenue for industry and mastery. The
elementary grades are critical times for intervention
with academic skill development. Although children
are typically supported in their development by social
and cultural institutions, many families are in transition
among cultures, either ethnic or socioeconomic. A visit
to the physician for episodic illness may be one of few
opportunities a parent or child has to explore the difficulties that occur with these transitions.
In the case of Sean, the physician has several opportunities to make an impact. One opportunity is to discuss safety
issues related to sports, such as properly fitting equipment,
especially for a goalie, and adequate hydration. Equally
important, the physician must make a decision about
whether or not to respond to the childs statement that
things are not going very well in school and the mothers
strategy of putting him on probation. The issues raised in
this family are common: a child must do well in school to
participate in sports; a teacher focuses on a childs role as
class clown, rather than on the childs academic skills; and
parents battle with a child over homework. Although these
issues could be easily dismissed as ordinary family problems, 20% of visits of children for primary care involve
problems related to development, learning, and behavior.
The problems are common, that they are raised with the
physician is common, and the conditions they suggest are
common. In this case, it is important to explore learning
(see Chapter 51), attention (see Chapter 54), adjustment
(see Chapter 42), anxiety and depression (see Chapter 47),
and family relationships (see Chapter 10).
The pediatrician took up the challenge. Further history revealed that Sean is a very poor reader and has
trouble getting his ideas on paper. He is demoralized
about school and his inability to be successful with
59
60
visits themselves became therapeutic because they provided an experience in which the child felt respected,
accepted, and understood; the parents felt respected and
supported in their parenting; and all family members
trusted that they could raise issues of concern and seek
guidance regarding Seans growth, development, learning, behavior, and adaptation to his learning disability
(see Chapter 89).
SUMMARY
Middle childhood is a dynamic and exciting time of
change. The spirit of industry and the mastery of one
significant challenge after another are truly awesome
to witness. Improvements in neuromotor control lead
to increased participation in sports. Changes in cognition and language support abstract reasoning and the
development of academic skills. Children become aware
of their own feelings and develop a moral sense. Differential thinning and thickening of the areas of the
brain are thought to be the neural substrate of many of
these changes. Clinical evaluations of children in middle
childhood require surveying these diverse domains of
functioning. Management of difficulties requires close
collaboration of parents, children, teachers, and physicians. Optimally, a sense of competency in the world
and with the self emerges for the child, laying the foundation for the developmental work of the years ahead.
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Adi-Japha E, Freeman NH: Development of differentiation between
writing and drawing systems. Dev Psychol 37:101-114, 2001.
Adirim TA, Cheng TL: Overview of injuries in the young athlete.
Sports Med 33:75-81, 2003.
Amunts K, Schleicher A, Ditterich A, Zilles K: Brocas region:
Cytoarchitectonic asymmetry and developmental changes. J Comp
Neurol 465:72-89, 2003.
Barnea-Goraly N, Menon V, Eckert M, et al: White matter development during childhood and adolescence: a cross-sectional diffusion
tensor imaging study. Cereb Cortex 15:1848-1854, 2005.
Barrera M Jr, Biglan A, Taylor TK, et al: Early elementary school
intervention to reduce conduct problems: A randomized trial with
Hispanic and non-Hispanic children. Prev Sci 3:83-94, 2002.
Benelli B, Belacchi C, Gini G, Lucangeli D: To define means to say
what you know about things: The development of definitional
skills as metalinguistic acquisition. J Child Lang 33:71-97, 2006.
Berninger VW, Abbott RD, Jones J, et al: Early development of
language by hand: composing, reading, listening, and speaking
connections; three letter-writing modes; and fast mapping in spelling. Dev Neuropsychol 29:61-92, 2006.
Blair C, Razza RP: Relating effortful control, executive function, and
false belief understanding to emerging math and literacy ability in
kindergarten. Child Dev 78:647-663, 2007.
Bouchard TJ: Genetic influence on human psychological traits.
In Duffy KG (ed): Psychology 2006/2007, 36th ed. Dubuque, IA:
McGraw-Hill, 2006, pp 27-31.
Bryant PE, Trabasso J: Transitive inferences and memory in young
children. Nature 232:456-458, 1971.
Butler MG, Bittel DC, Kibiryeva N, et al: Behavioral differences among
subjects with Prader-Willi syndrome and type I or type II deletion
and maternal disomy. Pediatrics 113(3 Pt 1):565-573, 2004.
Chard DJ, Vaughn S, Tyler BJ: A synthesis of research on effective interventions for building reading fluency with elementary students
with learning disabilities. J Learn Disabil 35:386-406, 2002.
Deater-Deckard K, Pike A, Petrill SA, et al: Nonshared environmental processes in social-emotional development. Dev Sci 4:F1-F6,
2001.
Durston S, Casey BJ: What have we learned about cognitive development for neuroimaging? Neuropsychologia 44:2149-2157,
2006.
Durston S, Tottenham NT, Thomas KM, et al: Differential patterns of
striatal activation in young children with and without ADHD. Biol
Psychiatry 53:871-878, 2003.
Edwards HT, Kirkpatrick AG: Metalinguistic awareness in children:
A developmental progression. J Psycholinguist Res 28:313-329,
1999.
Eisenberg N, Fabes RA, Spinrad T: Prosocial development. In
Damon W, Lerner RM, Eisenberg N (eds): Handbook of Child
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Evans AC: The NIH MRI study of normal brain development. Neuroimage 30:184-202, 2006.
Farah MJ, Shera DM, Savage JH, et al: Childhood poverty: Specific
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Gathercole SE, Pickering SJ, Ambridge B, Wearing H: The structure of
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Gersten R, Jordan NC, Flojo JR: Early identification and interventions
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Giedd JN, Blumenthal J, Jeffries NO, et al: Brain development during
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Haworth CM, Kovas Y, Petrill SA, Plomin R: Developmental origins of low mathematics performance and normal variation in
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Largo RH, Fischer JE, Rousson V: Neuromotor development from
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61
ADOLESCENCE
William Garrison and
Marianne E. Felice
Vignette
Johnny P., a 15-year-old boy, is a long-standing patient of Dr. K., a primary care physician. His mother
brings him to the office now with a variety of parental concerns. After earning average grades
throughout his previous school years, his achievement in his sophomore year of high school has
been deteriorating rapidly. In the same time period, conflict with his parents, now divorced but
living in the same large city, has escalated dramatically. His mother brings him to see Dr. K. so that
she can talk some sense into him. Mother describes Johnny as more oppositional than in previous
years, secretive and withdrawn from the family, and more involved with his peer group, who are also
mysterious to Johnnys parents. In addition to the expected pubertal physical changes in her son,
the mother reports an increase in angry outbursts, lower frustration tolerance, a whatever attitude
to the tasks of everyday life, a growing obsession with video games, and near-constant computer
or cell phone contact with peers.
When alone with Dr. K., Johnny gradually admits to engaging in several risky behaviors, including
initiating sexual activity with one or more female friends (hooking up), weekly marijuana and
alcohol use (it relaxes me), occasional school truancy, and at least one incident of shoplifting with
friends. At this point, Johnny becomes silent and looks to his pediatric provider as if to say, OK, so
what are you going to do about it?
Dr. K. realizes quickly that she must sort out what is normal versus abnormal adolescent behavior
and hatch a plan to address the teens high-risk behaviors.
Chapter 6 Adolescence
The term adolescence is sometimes used interchangeably with the term pubescence, but they are not the same.
Pubescence refers to physiologic changes, particularly
sexual maturity and reproductive capability. Adolescence
refers to psychosocial growth and development. These
two processes are interrelated and intertwined, however. Generally, pubescence heralds adolescence. Psychosocial attributes of the adolescent years usually are
first noticed by parents, teachers, and siblings shortly
after a child experiences the onset of puberty (described
subsequently). The beginning of adolescence is easier to
pinpoint than the completion of adolescence. Some individuals continue to grapple with adolescent issues well
past the legal age of 21 years. Regardless of when adolescence ends, the transition to adulthood is complete
when a physically and intellectually mature individual
is able to formulate a distinct identity and develop the
ability to respond to internal and external conflicts and
challenges with a consistent and realistic value system.
63
individuation process. Table 6-1 summarizes the developmental tasks commonly attributed to the adolescent
age group (Felice and Friedman, 1982). These growth
tasks occur concomitantly, but some tasks may be more
prominent in different phases of adolescence than in
others. Table 6-2 outlines the differences in the growth
tasks in the three phases of adolescence.
Late: 17 Years
1. Independence
Integration of independence
issues
Integration of satisfying body
image into personality
Beginning of intimacy
and caring
Individual relationships more
important than peer group
Specific goals and specific steps
to implement them
Ability to abstract
2. Body image
3. Sexual drives
5. Career plans
6. Conceptualization
Concrete thinking
7. Value system
4. Relationships
From Felice ME: Adolescence. In Levine MD, Carey WB, Crocker AC (eds): Developmental-Behavioral Pediatrics, 2nd ed. Philadelphia, WB Saunders, 1992, p 69.
64
Chapter 6 Adolescence
or teachers. Eventually, these teens may pay an emotional price and end up resenting the adults who made
the decisions for them. Clinical experience suggests that
an adolescent who struggles with this decision making
and does what he or she wants to do, rather than what
someone else wants him or her to do, is more likely to
achieve career satisfaction.
65
66
Chapter 6 Adolescence
DEVELOPMENTAL DOMAINS
Mastering the seven key psychosocial growth tasks
listed in Table 6-1 typically determines the relative success or failure of teens as they transition into adulthood.
Most teenagers do well in this transition. The adolescent
years can be a time of elevated emotional vulnerability.
Adolescence as a stage in human development is not as
catastrophic or dire, however, as early developmental
theorists, and many contemporary parents, might surmise. The reality is that most teens manage to steer
successfully through the maze of adolescence, perhaps
awkwardly at first, then more skillfully as they mature,
and typically emerge as adults functioning well within
the range of normal.
Pertinent to clinical work with teens, it seems that
when adolescence becomes a persistently painful or
problematic phase for a young individual, it is a clear
sign that something has gone wrong in personal development or the environment itself, and it should not
be categorized simplistically as just a symptom of being
a teenager. To understand how things go awry in adolescence requires a familiarity with several major developmental domains, what should occur in those domains,
and various factors that can derail normal development.
These domains each represent essential ingredients necessary for the key tasks of adolescence cited earlier. Put
in simpler terms, each domain represents a basic building block for successful human development during the
second decade of life. These domains can be captured by
three key questions:
1. How well can I think, reason and decide? (cognitive-developmental functioning)
2. How well do I interact with others? (moral and
social development)
3. Who am I, and do I like who I am? (emergence of
a sense of self)
In the following sections, we attempt to examine and
discuss each of these topics in greater depth.
67
Cognitive-Developmental Functioning
Before the 1980s, much of the empiric work on cognitive development in adolescents was strongly influenced
by the work of the major theorist Piaget. His stage
theory of human cognitive development was a useful
rubric for the study and understanding of how a childs
burgeoning mental skills evolve over time from thought
based solely on the outward appearances of things to
concrete operations or mental skills that allow a child
to solve problems mentally through steps from beginning to end. Piaget also theorized that a young adolescents thought processes gradually evolved further, to
a more abstract and multifactorial form of thinking
Piaget called formal operations. Developmental research in the last 20 years has cast doubt, however, on
the assumption that all adolescents (or adults, for that
matter) actually achieve the stage Piaget labeled formal
operations. Some research has suggested that less than
half of adults found in industrialized societies achieve
the formal operational stage Piaget described (Kuhn
et al, 1977).
More recently, the field of developmental psychology
has adopted an information-processing approach to
the study of cognition in teenagers (Steinberg and
Morris, 2001). In contrast to a Piagetian view, these
studies would argue that there is wide variation in individual capacity to think and process information
during adolescence. This variation is apparently due to
a complex interaction between overall cognitive abilities
and the accrual of environmental experience.
Two concepts regarding cognitive development in
adolescents hold particular value for clinicians seeking
to understand and help teenagers. First is metacognition, or the ability to think about thoughts, a process
that largely explains an adolescents continuous growth
in cognitive skills and the ability to draw on a useful
store of knowledge accrued over time. Metacognition is
the process whereby one is able to use knowledge from
past experience and merge such knowledge with the
challenges of a new task or problem, review and reflect
on possible strategies, and eventually solve or resolve
the tasks of everyday life, while navigating through the
major social and emotional challenges of adolescence
and adulthood. Metacognitive processes are thought to
be largely responsible for helping adolescents successfully counterbalance an array of conflicting thoughts
and emotions new to their experience, by virtue of
rapid biologic growth and dramatically expanding life
experiences.
Second, a computational model of cognitive developmental functioning in adolescents seems to be more useful than a stage model in explaining huge differences
in the mental capacities of adolescents, which go beyond
numerical differences in measurable intelligence (i.e.,
I.Q.). Generally, the effects of home milieu, schooling,
and general life experience should combine to strengthen
an adolescents increasing mental capacities. The lack of
appropriate stimulation in any of these life contexts, or
the presence of considerable stress or trauma, also can
act to limit or stultify individual cognitive development
during adolescence.
68
According to the information-processing perspective, general intelligence remains stable during adolescence, but dramatic improvements evolve in the specific
mental abilities that underlie intelligence. Verbal, mathematical, and spatial abilities increase, memory capacity
grows, and adolescents are more adept at dividing their
attention. In addition, their abstract and hypothetical
thought grows; they know more about the world, and
their store of knowledge increases (Feldman, 2006).
This contemporary view of adolescent cognitive
development helps us to understand wide differences
detectable in the overall cognitive and judgmental functioning of teenagers. If all adolescents were equally able
to manipulate easily abstract concepts related to everyday life, we would expect far fewer problems arising
from poor decision making in teens and young adults.
Similarly, the broad variability in adolescent abilities
to employ acquired knowledge and scientific reasoning
helps to explain the real-life differences in achievement
observed in teenagers.
Emergence of Self
One reason psychological issues seem so dramatic during
the adolescent years is simply due to the fact the issues
are new to the experience of the teens and those around
them, especially parents, teachers, and siblings. Biologic
and cognitive changes give rise to a re-definition of the
internal (Who am I?) and the external (What is the
meaning of life?). Too much has been written about
this journey of self-discovery to be reviewed here. A synthesis of research and theory on the phenomenology of
adolescence might provide the following key points:
1. Children generally evolve from a largely egocentric
view of themselves, in terms of worldview and event
causation, to a more realistic view during adolescence and adulthood that takes into account others
perspectives and allows for multiple-factor causation
of events. A growing awareness of other peoples
perceptions can be a double-edged sword, however,
heightening the adolescents fears of being scrutinized
and judged by peers or adults.
2. Self-esteem processes evolve from evaluation that
stems largely from What can I do/what am I good at
and Who likes me/rejects me, to a more coalesced
sense of identity that derives from an emerging selfappraisal based on past and current life experience.
In Eriksonian terms, the child moves from the task
of Industry versus Inferiority during the preadolescent years to one of Identity versus Role Confusion
(Erikson, 1963). Less understood during this important developmental transition is the role of individual
personality variables (at least partly due to biogenetic
influences) on the expression of adolescent emotionality and self-appraisal. Although it is a given that
we would see heightened emotionality in most teens,
only personality differences seem to explain the wide
range in variation adolescents show in negative emotions and poor coping with strong emotions.
3. Becoming comfortable with ones sexuality and
accepting of ones body is a major component of
adolescent development, but often extends into adulthood. Cultural and societal norms have a major influence in these areas of development. The emphasis
on thinness in modern society as the ideal model for
beauty is a different cultural norm today than it was
in previous centuries and may be influencing the wave
of eating disorders that is pervasive among many teenage girls in recent years. It is not unusual for women
as well as adolescent girls to struggle with body image
issues. Although modern society is more open about
sexual activity and sexual orientation than it was in
previous generations, there are many communities in
which sex before marriage is unacceptable for adults
and teenagers, and there are many areas of the United
States in which gay and lesbian couples are not welcomed. These external factors have a strong influence
on body image and sexual identity acceptance.
Much research is being done to understand adolescent development in all of its facets. Developmental
theory and research seeks to help understand how it is
Chapter 6 Adolescence
69
CLINICAL IMPLICATIONS
Adolescents receive clinical care in various settings: private physician offices, adolescent clinics, public health
clinics, and school-based health clinics. Regardless of the
settings, there are commonly accepted guidelines for successful interactions and interventions with teens. First,
the setting must be welcoming to the teen. For example,
there are chairs big enough for teens in the waiting room;
there are magazines appropriate for teens; there are
brochures available and posters on the wall all reflecting
the fact that adolescents are expected and welcomed.
Second, adolescents and parents must be interviewed
separately so that the clinician can take a history concerning sexuality or drugs or both without the teenager
being afraid to answer truthfully. When asking about
drugs or sexuality, it may be helpful first to ask
about friends activities in these areas and then to ask
about the teens activities. This is one way that the questions may be less threatening. When asking about sexuality, it is important that the interviewer not presume
that all adolescents are heterosexual and to ask questions
in such a way that the homosexual adolescent would
feel free to answer honestly. For example, the clinician
may ask: Do you have a boyfriend or girlfriend? or
Everyone has sexual thoughts and feelings sometimes.
With you, do you find yourself having sexual thoughts
about sex with boys or girls or both?
Third, adolescents should be told about confidentiality, and that the clinician will hold information in confidence except in those instances when the adolescent is
a danger to self or others. Clinical sites should ensure
that all staff, including the frontline staff, are educated
about adolescents rights to confidentiality and the sites
expectations as to how adolescents should be treated. It
is not unusual to find out that adolescents are reluctant
to use a certain facility not because of the clinician, but
because of an unpleasant experience they had with the
person who answered the phone.
Fourth, all clinical sites should be familiar with the
laws of the individual state concerning the rights of minors to receive health care without parental consent. In
most states, these laws allow adolescents to be seen for
the treatment of sexually transmitted infections or the
prescribing of contraceptives without parental knowledge or consent. Although some parents may question
these efforts, most parents understand the explanation
70
of similar dysfunction within the immediate and extended family pedigree. It has become too common and
convenient to blame all clinical problems teens encounter on adolescence itself, rather than recognizing the
larger biogenetic etiology of human psychological disorders and maladjustment to life.
Adolescents who encounter significant adjustment issues or come to the point where psychiatric diagnoses
are appropriate often fall into broad categories of behavior description: internalizing and externalizing subtypes.
Many of the teens encountered in health care settings
may fall short of meeting all criteria for a formal psychiatric diagnosis, but present with significant problems of
adjustment that merit attention and intervention. Some
studies have estimated that 40% of adolescents show
significant depressive symptoms, including dysphoric
mood, low self-esteem, and suicidal ideation, at some
point during the teen years (Steinberg, 1983), and about
15% of teens meet criteria for a depression diagnosis
(Evans et al, 2005). Most of these teens improve with
time and maturation, but all deserve evaluation and
intervention.
The most intensive research efforts in this area have
been focused on juvenile delinquency and its related behavioral manifestations of criminal behavior and substance abuse. This focus is understandable in light of the
fact that conduct disorder is the most prevalent psychiatric diagnosis seen in clinical settings that treat teenagers (although anxiety and depressive disorders are more
prevalent in the general population). Perhaps a reassuring finding from this body of work is that approximately
80% of adolescents cannot be formally labeled as offenders (i.e., defined as being apprehended and found
guilty of a crime), although many of this group have and
do engage in illegal behavior, strictly defined. One large,
influential study of offending youth concluded that adolescent risk-taking was overly characterized as dangerous by adults, but that the more germane issues for teens
involved increasing drug and alcohol use, problems associated with the dyad of heightened emotionality and
impulsivity (i.e., anger/violence, suicidality), and antisocial behavior that fell considerably short of criminality
(Offer and Boxer, 1991).
A high percentage of juvenile offenders, 80% (Kazdin,
2000), also meet criteria for one or more psychiatric
diagnoses. Various studies suggest that 50% to 60% of
juvenile offenders can be diagnosed with conduct disorder, followed by substance abuse (25% to 50%) and
affective disorders (30% to 75%) (Grisso, 1998). Most
juvenile offenders do not continue such behavior as
adults (Grisso, 1998). There is evidence, however, that
psychiatric issues continue in such youths as they enter
the young adult years.
RISKY BEHAVIORS
The most common risky behaviors in youth are likely
to be related to premature sexual activity, alcohol use,
and poor impulse control in the operation of motor
vehicles. Similar to Johnny P. in the opening vignette,
most teens who engage in risky behaviors remain unknown to police or judicial authorities (similar to their
Chapter 6 Adolescence
risk-taking elders), but are more likely to come to the attention of parents, teachers, and often medical providers.
Much less likely to be identified, although equally at risk,
are the more prevalent number of youth with depressive
and anxiety-based problems who are not or cannot be
seen as conduct-disordered by the society at large. The
fact remains that adolescents with psychiatric disorders
are much more likely than normal adolescents to engage
in risky behaviors with some frequency over longer duration (Flaherty, 1997), so screening for psychiatric issues
often addresses both problem areas at once.
Teens engage in risky behaviors at alarming rates.
It has been estimated that 12% of adolescents engage
in heavy smoking, 15% engage in heavy drinking, 5%
engage in frequent marijuana use, and 3% engage in
frequent use of cocaine (Dryfoos, 1990). More recent
studies in the United States and abroad suggest that some
of these risky teen behaviors are dramatically increasing
(Aggleton et al, 2000). Mean alcohol consumption by
teens, ages 11 through 15 years, was estimated to increase 50% in Great Britain during a 10-year period in
the 1990s. Similarly, behavioral epidemiology has identified illicit drug and alcohol use and teen sexual activity
and its consequences as the key morbidities in the U.S.
adolescent population (Friedman et al, 1998). Although
teen birth rates have consistently decreased since the early
1990s, the United States still has the highest teen birth
rates of all developed countries, and sexually transmitted infection rates have not decreased at all in that time
period and may have increased (Child Trends, 2005).
71
Home
Education/
Employment
Activities
Drugs
Sexuality
Suicide/
Depression
72
abuse seems to be a problem that has a substantial basis within the common adolescent experience in many
Western cultures today.
This discussion of substance use/abuse, one of the
most common and vexing risky behaviors that clearly
emerges during the teen years, provides a segue into some
final comments. First, this chapter has been focused on
the period of development identified as adolescence, but
we must not forget that each developmental epoch is a
function, to a degree, of what has come before. Many
aspects of mature adult outcomes can be traced directly
back to the adolescent years. Good adult outcomes and
bad outcomes have a basis in periods of individual formation in childhood and adolescence. School or work
failure, substance abuse, relationship disasters, and ultimately the individuals sense of self and satisfaction
derive partly and importantly from the history that
precedes the here and now. As adolescence comes to
a closechronologically in the early 20s, although developmentally the actual end point is much more openendedthe distinctions between immature and mature,
between teenager and adult, become merged and difficult to discern. As in all clinical and educational work
with youth, our attempts to promote the well-being of
children and teens also represent a contribution to helping the adults that teens soon become.
ADOLESCENTS AS PARENTS
Although adolescent pregnancy and birth rates have decreased immensely over the last 15 years (Child Trends,
2005), most teenagers who give birth choose to keep
their infants and do not give them up for adoption
(Donnelly and Voydanoff, 1991). The clinician may care
for two patients, the young mother and the infant, and
both are at risk for certain problems. Teen parents often
come from home situations that have a high incidence
of poverty, violence, drug use, and pregnancy at a young
age. In addition, these adolescent girls have a higher
than average history of learning problems and school
dropout (East and Felice, 1996), and some experience
postpartum depression (Barnet et al, 1995). These issues alone may make their own adolescent development
stunted, and the added responsibility of raising a child
may lead to additional problems for themselves and their
infants. Children born to teen mothers are at increased
risk for behavioral, social, and learning problems (East
and Felice, 1990, 1994) and for continuing the cycle of
teen parenting. One cannot presume, however, that all
adolescent mothers do poorly because some teen mothers do very well (Horwitz et al, 1991). Health care providers who are in the unique role of caring for a teen
mother and her child should be certain to address the
psychosocial problems of both youngsters and take the
time to help the teenaged parent develop the parenting
skills necessary to care for her child.
SUMMARY
Adolescence is a developmental period between childhood and adulthood marked by quantum leaps in physical, psychological, social, cognitive, and moral growth.
Chapter 6 Adolescence
REFERENCES
Aggleton P, Hurry J, Warwick I: Young People and Mental Health.
London, John Wiley & Sons Ltd, 2000.
Bains R: Psychotherapy with young people from ethnic minority backgrounds in different community-based settings. In Baruch G (ed):
Community Based Psychotherapy with Young People, Philadelphia.
Taylor & Francis, 2001.
Barnet B, Duggan A, Wilson MD, Joffe A: Association between postpartum substance use and depressive symptoms, stress, and social
support in adolescent mothers. Pediatrics 96:659-666, 1995.
Baruch G, (ed): Community Based Psychotherapy with Young People.
Philadelphia. Taylor & Francis, 2001.
Beck A: The Beck Depression Inventory. San Antonio, TX, Psychological Corporation, 1996.
Blos P: The second individuation process of adolescence. Psychoanal
Study Child 22:162-186, 1967.
Burns BJ, Costell EJ, Angold A, et al: Childrens mental health service
use across service sectors. Health Affairs 14:147-159, 1995.
Child Trends: Facts at a Glance. 2005. Available at:http://www.
childtrends.org/_catdisp_page.cfm?LID=140.
Cohen E, Mackenzie RG, Yates GL: HEADSS, a psychosocial risk assessment instrument: Implications for designing effective intervention
programs for runaway youth. J Adolesc Health 12:539-544, 1991.
Donnelly BW, Voydanoff P: Factors associated with releasing for
adoption among adolescent mothers. Family Relations 40:404410, 1991.
Dryfoos JG: Adolescents at Risk: Prevalence and Prevention. New
York, Oxford University Press, 1990.
East PL, Felice ME: Outcomes and parent-child relationships of former adolescent mothers and their 12-year-old children. J Dev
Behav Pediatr 11:175-183, 1990.
East PL, Felice ME: The psychosocial consequences of teenage pregnancy and childbearing. In Schenker R (ed): Adolescent Medicine.
London, Harwood Academic Press, 1994, pp 73-92.
East PL, Felice ME: Adolescent Pregnancy and Parenting: Findings
from a Racially Diverse Sample. Mahwah, NJ, Lawrence Erlbaum
Associates, 1996.
Erikson E: Childhood and Society. New York, Norton & Co, 1963.
73
NORMAL INDIVIDUAL
DIFFERENCES IN
TEMPERAMENT
AND BEHAVIORAL
ADJUSTMENT
William B. Carey
Vignette
At a kindergarten class, a group of 5- to 6-year-old children have finished their rest period and
have been asked by the teacher to put their shoes back on. Tying shoes is a normal 5-year-old
developmental milestone, and all these children can do it. All are sufficiently mature in the
self-care component of behavioral adjustment that they want to do it. The children have different
temperaments, however, and perform this task in various ways. Active, persistent, and negative Charlie
carries it out rapidly with a frown on his face. Inactive, positive Barbara does it slowly, singing merrily
all the while. Active, unadaptable, nonpersistent Kevin delays doing it until he has run around the
room for a while. Distractible Carol ties her shoes partway, becomes diverted by the fascination of
passing cars, but eventually returns to the job. The childrens levels of development and motivation
to cooperate are equal, but their performance is expressed by a multitude of normal behavioral styles.
INTERACTIONAL MODEL
At this point, we should attempt to tie these six chapters
and the many more to come with the unifying concept
of the interactional model of developmental-behavioral
status. The basic assumption of this book is that the individual personality is the product of an ongoing interaction between biologic elements in the child and the
influences of the environment (Chess and Thomas, 1996).
The term transactional is sometimes used to emphasize
74
TEMPERAMENT
Definition
The term temperament means the behavioral style of
the individual, the characteristic pattern of experiencing and reacting to the external and internal environment. Temperament can be thought of as the how
of behavior, rather than the what, which refers to
developmental level and abilities, or the why, which
describes the individuals behavioral and emotional adjustment and motivations. Temperament is not the same
as the individuals personality, but is a significant part
of it (Chess and Thomas, 1984, 1996). Because at least
with young children we cannot know for sure what children are feeling in these situations, we use the behavior
observed by the caregivers for doing the ratings.
Historical Background
The word temperament is derived from the Latin verb
temperare, which means to mix. The most prominent
Greco-Roman view of the origins of physical health and
personality by Hippocrates and Galen was that they
were derived from the variable mixture in the individual
of the four humors: blood, black bile, yellow bile, and
phlegm. Despite a complete lack of scientific evidence,
this view and versions of it, such as the additional influence of the planets at the individuals birth and the alterations by purges and bloodletting, lasted until the 19th
century and the dawn of modern scientific psychology
and medicine. In the early 20th century, the pendulum
swung to the opposite extreme in rejecting any ideas of
inborn behavioral predispositions and in attributing virtually all normal and abnormal personality differences
to the imprint of the environment. During that period,
early modern insights about inborn temperament dif
ferences by the physicians Pavlov in Russia and Gesell
in the United States and the psychologist Diamond went
largely unnoticed or unaccepted by behavioral scientists
and the general public.
In 1956, Chess and Thomas, wife and husband psychiatrists in New York City, and their associates began
their New York Longitudinal Study (NYLS) of temperament and behavior problems in children (Thomas et al,
1963). Being parents as well as astute clinicians, Chess
and Thomas knew that all children are not alike in their
inborn behavioral tendencies. At first, many professionals in the mental health and academic behavioral science
fields, contending that there is no such thing as congenital behavioral tendencies, greeted their findings with
scorn. An exploration of the political and social reasons
for this neglect and hostility is beyond the scope of this
75
Temperament Traits
Although the ancient Greco-Roman temperament traits
were the result of mere speculation and no science, the
traits introduced by the NYLS were empirically derived
from discussions with parents and by direct observations
of children. The aim was to select a set of primary reactive patterns that were present very early in life, with
evidence of genetic determination, fairly stable over time
and settings, and likely to affect the quality of parentchild interaction. The primary interest of the NYLS was
in finding how these traits would influence the development of behavior problems through stressful interactions
in the study population of 133 New York City children.
The traits the investigators selected (Table 7-1) were
activity, biologic rhythmicity, approach/withdrawal
(initial reaction), adaptability, intensity, mood, persistence/attention span, distractibility, and sensory threshold (sensitivity). These characteristics all were seen by
the investigators as normal, even at their extremes. Since
the presentation of these traits, some researchers and
clinicians have questioned whether at least some of the
traits, such as high activity or low attention span, may
not become pathologic at their far extremes. No such
quantitative cut-points have been established, however.
A variety of other conceptualizations have emerged
subsequently primarily from the work of academic
developmental psychologists. Some of these are by
Rothbart, Strelau, Buss and Plomin, Eysenck, Kagan,
and Zuckerman. Especially popular at present is
Digmans Big Five for adults: extraversion, agreeableness, conscientiousness, emotional stability, and openness to experience. Most recently, we have been offered
The Really Big Two of inhibition and impulsiveness
(Kohnstamm et al, 1989; Strelau and Angleitner, 1991).
Although clinicians have preferred to maintain profiles of all traits with demonstrated practical implications, these later researchers have favored reducing the
traits to as small a number as possible, even as few as
two. These newer traits have been constructed by factor analysis of reported behaviors, rather than using the
NYLS approach of identifying clinically observed and
readily identified traits and then writing items to measure
76
Amount of physical motion during sleep, eating, playing, dressing, and bathing
Regularity of physiologic functions, such as hunger, sleep, and elimination
Nature of initial responses to new stimulipeople, situations, places, foods, toys, procedures
Ease or difficulty with which reactions to stimuli can be modified in a desired way
Energy level of responses, regardless of quality or direction
Amount of pleasant and friendly or unpleasant and unfriendly behavior in various situations (overt
behavior, not assumed internal feelings)
Length of time particular activities are pursued by the child, with or without obstacles
Effectiveness of extraneous stimuli in interfering with ongoing behaviors
Amount of stimulation, such as sounds or light, necessary to evoke discernible responses in the
child
Adapted from Thomas A, Chess S: Temperament and Development. New York, Brunner/Mazel, 1977.
Temperament Clusters
The NYLS group found it convenient for their research
and clinically meaningful to define several clusters of
their nine traits. The difficult child, composing about
10% of their study population, was identified by the
traits of low adaptability, low initial approach, largely
negative mood, high intensity, and irregularity of biologic functions. The easy child, with the opposite
traits, accounted for a larger group of about 40%. The
slow-to-warm-up child, amounting to 15%, was similar to the difficult child, but mild in intensity and less
active.
At first, it seemed that the objective for clinical research and management should be to put one of these
labels on every child under consideration. That system
leaves almost half of the population without one of
these designations, however. It soon became apparent
that this practice could be derogatory and sometimes
misleading. A resourceful, experienced parent might describe a child as exhibiting traits that would be regarded
by most as difficult, but the parent might not think of
the child as particularly aversive. It would be a conflict
of terms to label a child as difficult if the parent were not
regarding the child as such. This situation has resulted
in the use of less pejorative terms, such as spirited
and challenging. The best policy seems to be to avoid
use of labels entirely and to discuss the childs temperament with parents in terms of the individual traits, for
Origins of Temperament
Evidence from family, twin, and adoption studies reveals
that temperament is about 50% genetically determined.
Multiple genes with small effects seem to be responsible,
rather than one or two major ones. Associations with
various chromosomal and genetic abnormalities have
been explored, but only to a limited and inconclusive
extent so far (Carey and McDevitt, 1995).
The rest of the input comes from nongenetic physical
factors in the child, prenatal and postnatal, and from the
psychosocial environment. The host of physical factors
suspected or established includes pregnancy influences,
such as maternal nutrition, toxins, alcohol and drug
use, smoking, emotional stress, infections, prematurity
(mostly if the infant is very small with neurologic insults) (Hughes et al, 2002), intrauterine growth retardation, and the season of birth. Postnatal conditions in the
child could be anemia and other nutritional problems,
toxins such as lead exposure and food additives, and
traumatic brain injury. There is general agreement that
psychosocial factors can and do modify the expression
of the inborn traits, but little is documented as to how,
when, and with whom it is likely to happen (Carey and
McDevitt, 1995).
Some preliminary investigations have demonstrated
support for a neuroanatomic basis for normal individ
ual differences in temperament (Whittle et al, 2008).
Stability of Temperament
Behavioral differences are observable in newborns (see
Chapter 2), but extensive research has shown that they
are largely transient. The activity, reactivity, irritability,
alertness, and soothability newborns may display are
evidently the result of factors such as duration of pregnancy and labor and analgesic medication, the effects of
which typically wear off in the coming days and weeks.
Correlations with later behavioral findings have been
negligible. If genetic influences have already begun their
expression in the immediate newborn period, we have
not yet developed ways to detect them.
Lack of appropriate research makes it hard to say
exactly when the first appearance of stable temperament traits may occur, but by 3 to 4 months there
begins to be measurable stability. From there on into
adolescence, temperament traits become increasingly
stable (Guerin et al, 2003). Temperament traits interact continually with the environment, but are not overwhelmed by it.
This evidence that temperament tends to be fairly
stable should not mislead the reader into thinking that it
never changes. Temperament is neither completely fixed
nor completely changeable at any age. We know that it
can and does change, but not how and when it happens.
The question of whether some current psychopharmacologic agents are temporarily altering normal temperament rather than improving abnormal brain function
is considered elsewhere (Carey and McDevitt, 1995).
77
Assessment of Temperament
In assessment of temperament, primary clinical reliance
is on parent reports by interviewing or questionnaires,
and less on observations by professionals. Laboratory
tests, such as frontal electroencephalogram asymmetries, are of interest in research, but have no recognized
diagnostic role at present (see Chapter 78).
Caregivers
For parents and other caregivers, there are two main
areas of impact: (1) on themselves as individuals and
(2) on their functioning as caregivers (Fig. 7-1). Although
not broadly studied so far, an abundance of evidence
supports the view that the childs temperament has a
significant impact on the caregivers, especially the parents, as individuals. Whether the child is positive and
flexible or negative and inflexible produces a very different experience for the adult caregiver. The experience
may influence self-esteem, marital satisfaction, outside
job performance, and general contentment with life. An
irritable, hard-to-soothe infant may leave a mother believing that she is inept and unfulfilled, whereas a mild,
pleasant one would be likely to make her feel content
and competent.
The childs temperament may support or interfere
with the caregivers provision of the parenting benefits of physical care, emotional needs, developmentalbehavioral needs, and socialization. All children are
not equally able to evoke expressions of affection from
parents. Inflexibility makes discipline harder to impose
and may bring on more forceful measures from the parent. Shy children are harder to socialize and may leave
78
Figure 7-1. A and B, The varying impact of childrens temperaments on their families. (A from Harald Duwe: Sonntagnachmittag. With
permission of Hamburger Kunsthalle; B from Carolus-Duran: The Merrymakers. Founders Society Purchase, Robert H. Tannahill Foundation
Fund. Photograph The Detroit Institute of Arts, 1989.)
Children
The impact on children is enormous, affecting most
areas of their functioning, including general care,
physical health, development, social behavior, school
performance, and reactions to stressors. Every day of
the childs existence, his or her general care is colored
by the pattern of responses produced by the behavioral
style: eating, sleeping, elimination, toilet training, dressing, playing, sibling relationships, and choice of peers
and activities with them. It is hard to imagine an area of
daily life unaffected by the childs reaction style.
Physical Problems
Several physical and functional conditions have an established or suspected connection with temperamental
predispositions, including injuries, colic, weight gain in
infants and older children, failure to thrive, child abuse,
neglect, sleep disturbances, recurrent abdominal pains
and headaches, bottle mouth caries, and constipation.
Regardless of what the physical condition may be
and where it came from, the childs and the parents
reaction to it is affected by the childs general pattern
of stress responses. The child could be mild, accepting,
and uncomplaining, or loud, irritable, and intolerant.
A quiet reaction is likely to produce a slower appeal to
or response from the parents for help and may entail
an underuse of medical care. A vigorous, reactive style
would probably get parental attention more rapidly and
hasten the seeking of medical care. These children may
end up with too much medical intervention.
Development
Although temperament and development are conceptually quite separate, they have been shown to be interrelated to a significant degree. Because temperament
consists of the style of interaction with the environment, it can be expected to affect the way in which the
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80
are not influenced by the environment, and can be adequately diagnosed by brief questionnaires.
Problems with this formulation include the following: (1) The current ADHD symptoms are not clearly
distinguishable from normal behavior. The DSM system fails to acknowledge the existence of temperament
and how it differs. The present diagnosis is based not
on a determination of extremely high activity or extremely low attention span, but on an accumulation of
normal or mildly to moderately annoying behaviors in
these areas. (2) There is an absence of clear evidence
that ADHD symptoms are related to brain malfunction. (3) The environment and interactions with it are
neglected in the etiology. (4) The questionnaires presently used for the diagnosis are highly subjective and
impressionistic. These issues are discussed elsewhere in
greater detail (Carey, 2002). Children with a variety of
non-neurologic disorders apparently are included erroneously presently under this diagnosis. Some of the
misdiagnoses are likely to be as-yet-undetected learning
differences or disabilities and temperament traits that
are not understood, tolerated, or successfully managed
by caregivers. Sleep deprivation, hunger, anxiety, and
depression are some other conditions presently sometimes being misdiagnosed as ADHD.
Jensen and colleagues (2006) have suggested a major
overhaul of the DSM system that would be less categorical and more developmental, adaptational, and cognizant of the context of the behavior (see Chapter 78).
Attentive clinicians should be aware that the basis of the
childs scholastic or behavioral problem might be a poor
fit between the childs temperament and the preferences
of the teacher, rather than a dysfunction of the childs
nervous system.
Environmental Stressors and Crises
Children and adults are confronted by a wide variety of stressors in their environments, including fairly
routine ones such as sibling births, school entry, and
geographical moves, and increasing in magnitude up
to parental separation and divorce, death of family
members, and natural and civic disasters. Traditionally, reactions to these events and conditions have been
attributed to the nature of the crisis, the prior adjustment of the child, the age and developmental level of the
child, and the character and availability of the family
supports. Because the childs temperament is the characteristic way the individual experiences and responds
to the challenges of the environment, we should expect
that it too would influence the type and extent of the
reaction exhibited. Such differences have been well
documented in several settings, such as sibling birth (see
Chapters 11and 14), parental divorce (see Chapter12),
and disasters (see Chapter 21). Allowing for the role of
temperament in these situations helps the parent and
clinician to recognize that the magnitude and type of
the reaction displayed may be as much a reflection of
the preexisting observed temperament as it is of the
severity of the childs internal feelings. One child may
scream whenever faced with a challenge, whereas another child may be more likely to withdraw and sulk
(Carey, 2003).
81
Referral
When, if at all, should challenging temperament traits
be grounds for a referral to a psychologist or psychiatrist? The simple answer is that the clinician is dealing
with normal behavior here, and that the child should be
cared for by the general pediatrician, family physician,
nurse practitioner, teacher, or other qualified caregiver.
We are more acquainted with normal function and with
the child and the family, and probably are in a better
position to be helpful. Indications for referral would
be only when there is an associated reactive problem
that is greater than the generalist feels able to deal with,
or when the parent has additional problems that make
management more complex. The routine problems of a
shy child can be dealt with at the primary care level. If
withdrawal has been allowed to take over the shy childs
82
Low Activity
High Regularity
Low Regularity
High Adaptability
Low Adaptability
High Intensity
Low Intensity
Try to read the childs real need, and do not mistake it as trivial just
because it is mildly expressed
Take complaints seriously
Positive Mood
Negative Mood
The child may need help organizing tasks into shorter segments with
periodic breaks; however, the responsibility for completion of the
task belongs with the child
Reward the adequate completion of the task and not the speed with
which it is done
High Distractibility
Low Distractibility
High Sensitivity
Low Sensitivity
From Carey WB: Understanding Your Childs Temperament, rev ed. Philadelphia, Xlibris, 2005.
life, however, and the child has become excessively withdrawn socially, a mental health specialist intervention
may be necessary (see Chapter 41).
BEHAVIORAL ADJUSTMENT
The term behavioral adjustment is used here in the sense
of the content of the childs behaviorthat is, what he
or she actually does and why, with some consideration
of its fit with the environmental circumstances. Behavioral adjustment may interact with, and be to some
extent derived from, the childs physical and developmental or cognitive status and temperament, but it is
distinct from these other aspects of the child.
83
84
f ollowed the lead of the DSM-IV in identifying the domains of childrens problem behavior with which we
should concern ourselves. These descriptions of abnormality provide guidance as to what areas should be included on the negative end of the spectrum in a truly
dimensional clinical appraisal of behavioral adjustment,
but do not supply a view of what we should expect on
the average or positive end.
The second step in establishing the conceptual basis
for a comprehensive, dimensional behavioral adjustment
profile was to match each of these broad areas of clinical
concerns with descriptions of average and superior function to be used for ratings when they are appropriate.
A subscale describing social relations having antisocial
behavior at the negative end requires a consideration of
such qualities as social competence, caring, and cooperation at the positive end. Such positive definitions of
what a normal or outstanding child might look like are,
as mentioned earlier, strikingly absent from the professional literature. A unique exception came from child
psychiatrist Chess (personal communication, 1989):
As a working concept, keeping in mind its subjective nature, one may identify the following broad
characteristics of normal children: They get along
reasonably well with parents, sibs, and friends; have
few overt manifestations of behavior disturbance;
use their apparent intellectual potential to appropriate capacity; are interested in accomplishing developmentally appropriate tasks; and are contented a
reasonable proportion of the time. This description
covers a wide range of temperamental and personality patterns. One should not arbitrarily consider
certain children to be abnormal because their conduct is identified with types of behavior that do not
conform to an abstraction.
Chess recommended thinking of positive adjustment
in terms of the individuals relationships with other people, with tasks, and with oneself.
An earlier textbook chapter, which is repeated
and revised in this volume (see Chapter 78), began to
SUMMARY
Temperament or behavioral style differences are real,
they matter extensively to caregivers and to children themselves in many ways, and their successful
85
REFERENCES
American Academy of Pediatrics: The Classification of Child and Adolescent Mental Diagnoses in Primary Care (DSM-PC). Elk Grove
Village, IL, American Academy of Pediatrics, 1996.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed (DSM-IV). Washington, DC, American Psychiatric Association, 1994.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed, Text Revision (DSM-IV-TR).
Washington, DC, American Psychiatric Association,
2000.
Carey WB: Is ADHD a valid disorder? In Jensen P, Cooper J (eds):
ADHD: State of the Science: Best Practices. Kingston, NJ, Civic
Research Institute, 2002.
Carey WB: Childrens temperaments influence the impact of environmental risks. J Child Health 1:181, 2003.
Carey WB, McDevitt SC (eds): Clinical and Educational Applications of Temperament Research. Amsterdam, Swets & Zeitlinger,
1989.
Carey WB, McDevitt SC: Coping with Childrens Temperament:
A Guide for Professionals. New York, Basic Books, 1995.
Carey WB, McDevitt SC: The BASICS Behavioral Adjustment Scale.
Scottsdale, AZ, Behavioral-Developmental Initiatives, 2003.
Caspi A, Elder GH Jr, Bem DJ: Moving against the world: Life-course
patterns of explosive children. Dev Psychol 23:308, 1987.
Chess S, Thomas A: Origins and Evolution of Behavior Disorders:
From Infancy to Early Adult Life. New York, Brunner/Mazel,
1984.
Chess S, Thomas A: Temperament Theory and Practice. New York,
Brunner/Mazel, 1996.
Cohen E, Mackenzie RG, Yates GL: HEADSS, a psycho-social risk
assessment instrument. J Adol Health 12:539, 1991.
Deal JE, Halverson CF Jr, Havill V, Martin RP: Temperament factors as longitudinal predictors of young adult personality. MerrillPalmer Q 51:315, 2005.
Dunn W: The sensations of everyday life: Empirical, theoretical, and
pragmatic considerations. Am J Occup Ther 55:608, 2001.
Eysenck MW: Individual Differences: Normal and Abnormal. East
Sussex, UK, Erlbaum, 1994.
Gartstein MA, Rothbart MK: Studying infant temperament via the
Revised Infant Behavior Questionnaire. Infant Behav Dev 26:64,
2003.
Gaskins IW, Barron J: Teaching poor readers to cope the maladaptive
cognitive styles: A training program. J Learn Disabil 18:390, 1985.
86
Strelau J, Angleitner A (eds): Explorations in Temperament: International Perspectives on Theory and Measurement. New York,
Plenum, 1991.
Super CM, Harkness S, Axia G, et al: Culture, Temperament, and the
Difficult Child: A Study of Seven Western Cultures. In press.
Thomas A, Chess S, Birch HG, et al: Behavioral Individuality in Early
Childhood. New York, New York University Press, 1963.
Turecki S, Tonner L: The Difficult Child, rev ed. New York, Bantam,
2000.
Werner EE, Smith RS: Journeys from Childhood to Midlife. Ithaca,
NY, Cornell, 2003.
Whittle S, Ycel M, Fornito A, et al: Neuroanatomical correlates of
temperament in earely adolescents. J Am Acad Child Adolesc Psychiatry 47:682-693, 2008.
Part II
ENVIRONMENTAL
INFLUENCESFAMILY
AND SOCIAL
8 INFLUENCES OF EXPERIENCE
IN THE ENVIRONMENT ON
HUMAN DEVELOPMENT AND
BEHAVIOR
Irene M. Loe and Heidi M. Feldman
environment. These interactions transform environmental features, for example, by creating stress or affecting
parental emotions, family function, and social support.
Topics related to child characteristics are highlighted in
later chapters. The focus here is to highlight the role of
the environment. This chapter documents through examples how experience influences (1) human behavior
and development, (2) the human brain, and (3) gene
expression.
DEFINITION
Environment can be defined as the circumstances, objects, or conditions by which one is surrounded; the
complex of physical, chemical, and biotic factors that
act on an organism or an ecologic community and ultimately determine its form and survival; or the aggregate
of social and cultural conditions that influence the life
of an individual or community. The environment is allencompassing.
Environmental input must be stored in the brain to
shape development and behavior. Greenough and colleagues (1987) have proposed two forms of storage dedicated to two distinct categories of environmental input.
The first is input that is ubiquitous and common to all
species members, or experience-expectant. The second is
unique or idiosyncratic to the individual, or experiencedependent. Experience-expectant developmental processes imply that (1) there are required experiences
covering a broad range of expected environments and
(2) the lack of such experiences interferes with normal
structural and functional development despite later exposure to appropriate environmental inputs. Experiencedependent processes also involve active changes among
87
88
ENVIRONMENTAL INFLUENCES
OF DEVELOPMENT AND BEHAVIOR
Aspects of the physical environment, such as nutrition and toxins, have long been recognized to influence
healthy growth and development. Folic acid deficiency
during pregnancy has been associated with neural tube
defects. Iodine deficiency remains the leading world
cause of preventable intellectual disability, and neurologic damage from early fetal iodine deprivation is only
minimally reversible with treatment. Iron deficiency in
infancy, the most common nutritional deficiency, is associated with persistent lower scores on measures of
mental and motor development. Exposure to environmental neurotoxins, such as lead, methyl mercury, and
polychlorinated biphenyls, has been associated with
significant developmental morbidity and mortality. The
many adverse consequences of lead exposure, including
inattention, learning problems, hyperactivity, decrease
in IQ, aggression, impulsivity, encephalopathy, and
anemia, have resulted in routine screening of blood lead
levels and substantial public health efforts to eliminate
lead exposure.
The impact of the psychosocial environment on development also is striking. In the 1940s, Spitz documented
the devastating effects of extreme deprivation and institutionalization on motor, cognitive, and emotional
development. The lack of a primary relationship with
a human caregiver and the extreme social deprivation
are considered mechanisms for poor developmental outcomes. Children from institutionalized settings not only
are at high risk of poor developmental outcomes, but
also exhibit continued behavioral difficulties in the form
of aggression, indiscriminant sociability, hyperactivity,
and peer relationship problems.
At far less severe levels of deprivation, the risk of
unfavorable outcomes remains high. Children of lower
socioeconomic status, who have increased exposure to
medical illness, family stress, inadequate social support,
and parental depression, have less favorable developmental and behavioral outcomes than children of the middle
and upper classes. They also experience more serious
consequences from these risks than children of higher
socioeconomic status. A classic study by Werner (1989)
89
Plasticity
Plasticity is the capacity of the brain to adapt or change
in response to activity or experience, usually after injury
or disease. Many of the examples in the previous section
on cortical reorganization also are examples of plasticity. Other examples of plasticity in the human brain include the recovery of motor or language function after
stroke or the sparing of language function after brain
surgery for epilepsy. Modern imaging studies document
that the brain is capable of novel organizations or reorganization after injury in response to learning. Reorganization may occur within brain regions or may involve
recruitment of new regions to support function. Plasticity also can be observed at a cellular level, in which synapses show changes in communication or signaling with
experience. Plasticity can occur in response to positive
and negative events, conferring adaptability and vulnerability in young children.
The developmental timing of injury or experience
can be crucial for outcome. In the animal literature,
seminal work by Kennard (1938) showed that neonatal
lesions of motor cortex in monkeys had minimal effect
on the development of motor functions, whereas such
lesions in adult monkeys resulted in severe and permanent motor impairment. Kennard also showed that
such resilience did not apply to all neural systems, as
illustrated by permanent blindness after bilateral ablation of occipital regions. More recent work by Webster
and colleagues (1995) showed that more extensive lesions were required to disrupt performance of adult
90
Mechanisms
It was previously believed that neurogenesis was complete at birth. More recent studies have documented
that postnatal neurogenesis occurs in vertebrates
ranging from birds to primates and persists through
at least middle age in the hippocampus (Gould et al,
1999). Neurogenesis in the hippocampal dentate gyrus
occurs in response to experience, including environmental complexity or enrichment, learning, and stress
(Kempermann et al, 1997). Although these new neurons
function similar to neurons formed prenatally, in that
they form connections, are incorporated into existing
circuitry, and show normal electrophysiologic profiles,
they differ from prenatally derived neurons by having a
shorter survival time. It is unclear if the postnatal neurons replace lost prenatal neurons or carry out some
other function, such as functions involved with memory
and learning (Leuner et al, 2006).
Synaptic sculpting is another neural mechanism that
responds to experience. Initial overproduction of axons
and dendrites is followed by retraction. Behaviorally, it
has long been known that rats housed in complex learning environments outperform rats reared in isolation on
motor, learning, and memory tasks (Hebb, 1947). In addition, rats in the complex environment had heavier and
thicker regions of the dorsal neocortex, with more synapses per neuron, increased dendritic spines and branching patterns, and greater capillary branching, than rats
raised in simple environments. Animal studies also
show that exposure to a complex environment results
in significant changes in dendritic field dimensions, synaptogenesis, and synaptic morphology compared with
neural structures in animals housed in standard laboratory cages (Dong and Greenough, 2004). Even when
the environmental exposure or training is discontinued,
these neuronal changes persist for varying but substantial lengths of time.
Studies suggest that exposure to a complex environment does not induce a ubiquitous plastic response
throughout the brain, but, rather, specific effects in the
brain systems involved in processing specific components
of the animals experience. It is the learning experience
that apparently is the cause of morphologic change in
neurons, rather than other nonspecific global hormonal
or metabolic effects.
Other mechanisms of learning and plasticity in the
brain may involve non-neuronal elements, such as
glial cells (astrocytes and oligodendrocytes), myelin,
and vasculature. Myelination speeds nerve conduction
velocity and has implications for serial and parallel
processing in the brain. Exposure to an enriched environment increases myelination of subcortical pathways, increases the amounts of astrocytic material and
the degree of contact between astrocytes and the surface of synapses, and dramatically increases the degree
of capillary perfusion of the brain. Such non-neuronal
plasticity often occurs in tandem spatially and temporally with neuronal plasticity. The effects of environmental manipulation on up-regulating processes, such
as gliogenesis, neurogenesis, and structural interactions
between neurons and glia, could have clinical implications for developmental brain disorders, such as autism
and fragile X syndrome (Grossman et al, 2003; Irwin
et al, 2005).
91
ENVIRONMENTAL INFLUENCES
ON GENE EXPRESSION
In the same way that neural structure and function were
traditionally conceptualized as fixed, gene expression
was traditionally defined in simplistic terms. In the old
model, genes coded a single trait, such as blonde hair
or blue eyes, and those traits were stable features of an
individual. What we have learned in the last decade is
that gene action is far more complex. Genomics refers to
the more ambitious study of all the genes in the genome,
including their function, interaction, and role in various common disorders that are not due to single genes.
Humans have fewer genes than previously estimated,
essentially the same number as mice and only slightly
more than twice that of Drosophila. The sequence of
base pairs in human DNA seems insufficient, alone, to
determine how gene products interact to produce an
organism. Genes interact with each other, sometimes
synergistically, sometimes antagonistically. Some gene
expression is in a constant state of flux, responding to
specific environmental inputs or experiences and allowing for the influence of phenomena, such as learning.
One strategy for identifying what a gene does is to see
what happens to the organism when that gene is missing. Studying knockout mutant organisms that have acquired deletions in a given gene is a useful technique.
The resulting distinctive appearance or behavior of the
animal suggests the function of the gene. Analogous
to the limitations of lesion studies to understand brain
function, knockout experiments interrupt gene-gene interactions and related processes and may not accurately
isolate the specific functions of that gene (Perrimon,
1998). Nevertheless, animal studies provide a mechanism for studying the role of environmental experience
or enrichment on gene expression in the brain.
Gene expression has been studied in the rodent brain
using oligonucleotide microarray hybridization to investigate molecular mechanisms underlying cognitive improvements after enrichment (Rampon et al, 2000). Mice
were exposed to enriched environments for 3 hours to
14 days; changes in gene expression in the cortex were
then examined. Enrichment training resulted in a significant change in the expression of multiple genes compared with control mice housed in standard laboratory
conditions. Differential expression of genes occurred
after short (3 and 6 hours of exploration) and long (2
and 14 days) periods of enrichment training, supporting
early and longer term effects of enrichment. Although
many of the expressed gene products are involved in
neuronal structure, plasticity, and neurotransmission,
the up-regulation of such proteins and their exact physiologic roles remain unclear and warrant further study.
In another study of rats, exposure to an enriched environment resulted in increased levels of fragile X mental
retardation protein levels in visual cortex and the hippocampal dentate gyrus compared with animals raised
in standard laboratory cages (Irwin et al, 2005).
In humans, monozygotic twins show differences in
disease susceptibility and phenotypic discordance despite having identical genotypes. Studies of monozygotic
twins include investigation of the role of environmental
92
influences on epigenetic informationgenetic information that is heritable during cell division, but not
contained within the DNA sequence itself. Such information causes changes in gene expression through
mechanisms such as DNA methylation and chromatin
modifications. A study of monozygotic twin pairs shows
increasingly divergent patterns of epigenetic modifications as the pairs get older; the epigenetic markers studied were more distinct not only in monozygotic twins
who were older, but also in twins who had different
lifestyles and had spent less of their lives together,
emphasizing the role of environmental factors (Fraga
et al, 2005).
GENE-ENVIRONMENT INTERACTIONS
The study of genetic polymorphisms also provides another means of examining gene-environment interactions. The serotonin transporter gene (5HTT) is one
of the most widely studied genes in relation to psychopathology. 5HTT is involved in the regulation of the
neurotransmitter serotonin via reuptake and the availability of serotonin in the synaptic cleft. The 5HTT gene
has two alleles, short (s) and long (l), resulting in three
genotypes: homozygous short (s/s), homozygous long
(l/l), and heterozygous (s/l). The short allele results in
decreased 5HTT transcription, lower transporter levels,
and reduced serotonin reuptake (Verona et al, 2006).
In adults, the short allele also has been associated with
a predisposition to anxiety and negative emotionality
(Munafo et al, 2003).
Numerous studies have investigated the interactions
between 5HTT alleles and the environment. In a prospective longitudinal study of a representative birth
cohort of humans, the influence of stressful life events
on depression was moderated by 5HTT polymorphism
(Caspi et al, 2003). Compared with individuals homozygous for the long allele, individuals with one or two
copies of the short 5HTT allele exhibited more depressive symptoms, diagnosable depression, and suicidality
in relation to stressful life events. The 5HTT short allele also has been associated with a predisposition for
increased physiologic reactivity in response to stressors.
In a functional magnetic resonance imaging experiment,
Hariri and colleagues (2002) found that individuals
with one or two copies of the short 5HTT allele exhibited greater amygdala neuronal activity in response to
fearful stimuli compared with individuals homozygous
for the long allele.
Studies of associations of the short allele with temperamental traits in children have been less consistent
than studies of psychopathology in adults. It may be that
the timing and measure of behavioral characteristics determine the results of such association studies. It also is
possible that the studies to date have failed to consider
important environmental influences. Fox and colleagues
(2005) found evidence for a gene-environment interaction with the presence of the short allele and low social
support resulting in increased risk for behavioral inhibition in middle childhood.
Low levels of serotonin in the brain also have been
implicated in the expression of aggressive behavior;
SUMMARY
In the current era, with rapid advances in neuroscience
and genetics, the role of the environment in understanding human development and behavior remains central.
In addition to a long and venerable history of studies
documenting the effects of deprivation and enrichment
on human development, we now have evidence that
experiences in the environment can fundamentally affect neural organization through neurogenesis, synaptic
sculpting, and changes in non-neural components of the
brain. Studies of genetic polymorphisms show that environmental effects may operate differentially depending on the particular alleles an individual has in various
systems. Future research must develop new methods for
studying these interactions and identify other examples
of environmental influences. With the advent of personalized medicine, therapies can be developed that capitalize on the ability of selected experiences to modify
neural organization or genetic expression.
REFERENCES
Als H, Duffy FH, McAnulty GB, et al: Early experience alters brain
function and structure. Pediatrics 113:846-857, 2004.
Booth JR, MacWhinney B, Thulborn KR, et al: Developmental and lesion effects in brain activation during sentence comprehension and
mental rotation. Dev Neuropsychol 18:139-169, 2000.
Boyd RN, Morris ME, Graham HK: Management of upper limb dysfunction in children with cerebral palsy: A systematic review. Eur
J Neurol 8(Suppl 5):150-166, 2001.
Cases O, Seif I, Grimsby J, et al: Aggressive behavior and altered
amounts of brain serotonin and norepinephrine in mice lacking
MAOA. Science 268:1763-1766, 1995.
Caspi A, McClay J, Moffitt TE, et al: Role of genotype in the cycle of
violence in maltreated children. Science 297:851-854, 2002.
Caspi A, Sugden K, Moffitt TE, et al: Influence of life stress on depression: Moderation by a polymorphism in the 5-HTT gene. Science
301:386-389, 2003.
93
VARIATIONS IN FAMILY
COMPOSITION
Craig Garfield
Generally, descriptions of attachment bonds and parenting practices have focused on the primary caregiver,
which has historically been the mother. A growing societal shift has seen greater involvement of the father
throughout childhood and adolescence in many realms
of family life (U.S. Department of Education National
Center for Education Statistics, 2001). Positive and sustained paternal involvement has been associated with
myriad positive outcomes for children, such as increased
weight gain for premature infants, improved breastfeeding rates, higher receptive language skills, higher academic achievement, higher self-esteem, lower depression
and anxiety, and lower delinquent behavior (Garfield
and Isacco, 2006; U.S. Department of Education
National Center for Education Statistics, 2001). Fathers
and mothers who are committed to the well-being of
their child, regardless of marital status, provide the most
positive environment for their child to grow.
95
Table 9-2. Strengths, Common Concerns, and the Role of the Pediatrician in Dual-Earner Families
Strengths
Common Concerns
Role of Pediatrician
Economic benefits
Greater life satisfaction for both parents
Higher self-esteem for parents
Positive role modeling for children
96
2003). Another 1.1 million children resided in a household with their father and his unmarried partner
(Fields, 2003). Both of these living arrangements can
be referred to as cohabiting family compositions. Children were more than four times as likely to live with a
single mother (17 million) than a single father (3.5 million), but children living with a single parent were three
times as likely to have their father cohabiting than their
mother (Fields, 2003). Higher proportions of African
American and Hispanic children live with single parents
and cohabitating family structures than white children
(Fields, 2003).
Cohabiting families benefit children compared with
some alternative compositions, such as single parent
households (Table 9-3). As in married parent families,
the relationship quality between the cohabiting adults
plays an important role in ensuring healthy child development. For all families, the ability to remain flexible
and adaptable to stressors and to maintain open communication is beneficial to children as they grow. It is
possible that cohabiting families with high-functioning
parents and with positive relationships can provide children with many of the same benefits as similar married
parent families. These families do present additional
risks to some children, however, because they may be
more likely to dissolve and often include parents with
lower economic resources.
Children living with biologic cohabiting parents on
average experience worse behavior, emotional, and
educational outcomes compared with children living in
two parent married families. This difference seems to
be related to the level of economic resources a family
can provide. For children 6 to 11 years old, economic
resources and parental support attenuate differences
between children in married and cohabiting families.
As children enter the transitional time of adolescence,
12 to 17 years old, parental cohabitation is negatively
associated with well-being and economic resources
(Brown, 2004).
Cohabiting relationships are generally unstable and
may involve repeated parental separations and family
reconstitutions. The higher levels of conflict and the
separations can be sources of stress for parents and children. Parents may receive less consistent social support
from a cohabiting partner and may experience higher
levels of stress because of the uncertainty of the cohabiting relationship. Cohabiting families often have higher
Table 9-3. Strengths, Common Concerns, and the Role of the Pediatrician in Cohabiting Families
Strengths
Common Concerns
Role of Pediatrician
97
Table 9-4. Strengths, Common Concerns, and the Role of the Pediatrician in Single Parent Families
Strengths
Common Concerns
Role of Pediatrician
98
SAME-SEX PARENTS
Although exact figures for children being raised in gay
or lesbian families are difficult to obtain because of possible reporting biases, estimates are that 2 to 10 million
gay and lesbian parents are raising 6 to 14 million children in the United States (Dingfelder, 2005). There is
wide variation in same-sex family compositions; there
are domestic partnerships not dissimilar from married
partnerships, single lesbian mother families, single gay
father families, divorced lesbian mother families, divorced gay father families, civil unions, planned lesbian
motherled families, and planned gay fatherled families. Planned families can come into existence through
assisted reproduction (i.e., egg donation, sperm donation, artificial insemination), surrogacy, or adoption
(Pawelski et al, 2006). Most children who have gay
parents were born in the context of a heterosexual relationship; these children have experienced divorce or
separation and may still have contact with another
parent (Pawelski et al, 2006). Other children may be
adopted by a gay or lesbian couple together or by one
parent who then enters such a relationship. The adoptive rights of same-sex parents are not recognized in 11
states, however (Dingfelder, 2005).
As measured through self-esteem, personality measures, peer-group relationships, behavior difficulties,
academic success, and warmth, no major differences
have been found regarding children raised in homosexual and heterosexual families (Fig. 9-1 and Table
9-5) (Pawelski et al, 2006; Perrin and Committee on
Psychosocial Aspects of Child and Family Health,
2006). Good parenting, regardless of sexual identity,
leads to strong attachment bonds, minimal emotional
and behavior problems, and minimal confusion over
sexual identity (Lassiter et al, 2006; Sargent, 2001).
Similar to all families, open communication between
parents and children is important; in these families, open
discussions about the parents sexual orientation can
strengthen the parent-child bond (Adams et al, 2004;
Dingfelder, 2005). Children raised in same-sex families
have been found to be more tolerant of diversity and
more nurturing toward other children (Pawelski et al,
2006; Tasker, 2005).
Health care professionals need to be aware that children raised in same-sex families do have some concerns
specific to this family structure (see Table 9-5). The
social stigma of homosexuality and societys assumption
that children of gay parents do not have healthy development can be hard on children and their parents. Children can become socially isolated from extended family
if familial relationships were strained in their parents
coming out process. For children born into a heterosexual relationship that dissolved, negative interactions
between their still-heterosexual biologic parent and their
now-homosexual, bisexual or transgender parent can be
especially stressful, and conflict between parents may
be ongoing. For homosexual families working toward
adoption, the legal process and associated societal stigma
can be anxiety-provoking for parents and children (see
Chapter 13) (Dingfelder, 2005). Finally, the cultural
script for same-sex couples is more open to interpretation
than for heterosexual couples and may result in greater
role confusion among partners regarding financial,
home, and childcare responsibilities (Adams et al, 2004).
This greater ambiguity, as for cohabiting families, can
increase conflict and be a source of stress for the entire
family.
99
Table 9-5. Strengths, Common Concerns, and the Role of the Pediatrician in Same-Sex Families
Strengths
Common Concerns
Role of Pediatrician
Figure 9-2. Multiracial family. ( Gigi Kaeser from the exhibits and
books, Of Many Colors: Portraits of Multiracial Families, produced
and distributed by Family Diversity Projects, www.familydiv.org.)
GRANDPARENT-HEADED HOUSEHOLDS
Since 1990, there has been a 30% increase in the number of children living with grandparents (Hayslip and
Kaminski, 2005). Although 5.5 million grandparents
have grandchildren living with them and serve as the
primary caregiver for the child, an additional 2.3 million grandparents provide basic needs (i.e., money, food,
clothes) for their grandchildren, although the grandchildren do not live with them. Of these grandparents supporting grandchildren, 72% were younger than age 65.
100
Table 9-6. Strengths, Common Concerns, and the Role of the Pediatrician in Interracial and Interfaith Families
Strengths
Common Concerns
Role of Pediatrician
Table 9-7. Strengths, Common Concerns, and the Role of the Pediatrician in Grandparent-Headed Households
Strengths
Common Concerns
Role of Pediatrician
Some grandparents may resent the imposition of having to care for their grandchild and may feel taken advantage of and disappointed by their lost freedom. Other
grandparents may be upset with the failure of their own
child to act as an appropriate parent figure. The circumstances that resulted in the grandparent becoming
the primary caretaker (i.e., illness, protective services,
jail, or death) also may weigh heavily on the family in
general. Finally, the transition as a mother or father reenters the childs life can be stressful because the child
will be used to one set of expectations and rules with the
grandparents, and possibly another with the parent.
SUMMARY
Family composition continues to change, and even the
diverse family formations discussed here are predicted
to continue to change. Children will continue to develop
and be raised in a variety of family structures, and may
experience multiple family structures throughout their
childhood. With continual change in family composition comes the need for clinicians working with families to know and understand the current strengths and
concerns of each family structure to provide the highest
quality of care to each patient. Likewise, knowing what
steps can help to ensure the optimal healthy outcome for
a child in a given family context is important for health
care providers who work with children and families. Regardless of family composition, the necessary ingredients
for a child to develop and flourish are a safe, nurturing
environment created by nurturing and caring parents.
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Therapy for Couples and Families 12:40-42, 2004.
Brown SL: Family structure and child well being: The significance of
parental cohabitation. J Marriage Fam 66:351-367, 2004.
Byrd MM, Garwick AW: Family identity: Black-white interracial family health experience. J Fam Nurs 12:22-37, 2006.
Cairney J, Boyle M, Offord DR, Racine Y: Stress, social support, and
depression in single and married mothers. Soc Psychiatry Psychiatr
Epidemiol 38:442-449, 2003.
Carlson MJ, Corcoran ME: Family structure and childrens behavioral and cognitive outcomes. Journal of Marriage and Family 63:
779-792, 2001.
Ciabattari T: Cohabitation and housework: The effects of marital intentions. J Marriage Fam 66:118-125, 2004.
Dingfelder SF: The kids are all right. Monit Psychol 36:66-68, 2005.
Fields J: Childrens Living Arrangements and Characteristics: March
2002. Current Population Reports (P20-547). Washington, DC:
U.S. Census Bureau, 2003.
Frey WH: Charticle. Retrieved Third Quarter. 2003. Available at:
http://www.frey-demographer.org/reports/Rainbownation.
pdf#search=%22Frey%20interracial%20marriage%22. Accessed
October 3, 2006.
Garfield C, Isacco AJ: Fathers and the well-child visit. Pediatrics
117:e637-e645, 2006.
Garfield CF, Chung P: A qualitative study of early differences in
fathers expectations of their child care responsibilities. Ambul
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Hanson TL, McLanahan S, Thomson E, et al: Economic resources, parental practices, and childrens well-being. In: Consequences of Growing
Up Poor. New York, Russell Sage Foundation, 1997, pp 190-221.
Hayslip B, Kaminski PL: Grandparents raising their grandchildren:
A review of the literature and suggestions for practice. Gerontologist
45:262-270, 2005.
Lassiter PS, Dew BJ, Newton K, et al: Self-defined empowerment
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Journal: Counseling and Therapy for Couples and Families 14:
245-252, 2006.
Lawlor V: Is it OK for those of different faiths to wed? The Bergen
Record, Hackensack, NJ, Marcull, 1999.
Leslie LA, Letiecq BL: Marital quality of African American and white
partners in interracial couples. Personal Relationships 11:559-574,
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Myers SM: Religious homogamy and marital quality: Historical and
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Pawelski JG, Perrin EC, Foy JM, et al: The effects of marriage, civil
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Perrin EC: Committee on Psychosocial Aspects of Child and Family
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Previti D, Amato PR: Why stay married? Rewards, barriers, and marital stability. J Marriage Fam 65:561-573, 2003.
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Sargent J: Variations in family composition: Implications for family
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Simmons T, OConnell M: Married-couple and unmarried-partner
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2003pubs/censr-5.pdf. Accessed September 26, 2006.
Tasker F: Lesbian mothers, gay fathers, and their children: A review.
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10
FAMILY FUNCTION
AND DYSFUNCTION
Stephen Ludwig and Anthony Rostain
Vignette
A 12-year-old girl is referred from her primary care pediatrician for a consultation. She has had
intermittent abdominal pain for several months. The pain is moderate in quality, not localized,
and does not relate to eating or stool patterns. She has neither lost nor gained weight. The primary
care pediatrician has done a basic evaluation and has ruled out constipation, inflammatory bowel
disease, celiac disease, or gynecologic cause. The child has yet to have menarche. The parents are
very concerned and are looking for answers. The patient seems less concerned and has a flat affect.
After reviewing the history and performing a negative physical examination, the consultant takes
a more in-depth social history. When asked about school, the child responds, Which school? With
further questioning, it is revealed that this family is extremely wealthy. They own several homes in
two cities in the United States and one in Switzerland. The family has domestic staff, clothes, and
modes of transportation at each site. The family moves from place to place throughout the year,
and the child travels with the family. She is enrolled in school in two locations. The child discussed
the difficulty in finding and keeping a peer group in either location. Although she has all the material
things a girl her age might want, she has not had a stable home. She has an excess of homes. The pain
she has been experiencing is a psychophysiologic pain. It resulted from family dysfunction at a time
in the childs life when she needed her family to provide stability for her to accomplish her adolescent
developmental milestones. The childs parents were initially surprised by the diagnosis, but with
discussion accepted it and determined to make appropriate lifestyle and family function changes.
A childs family is the primary influence of the psychosocial environment on her or his development and behavior. This chapter encourages the reader to think of the
familys effects in terms of the specific tasks of supplying
physical requirements; providing developmental, behavioral, and emotional needs; and socializing the child by
furnishing and teaching about normal social relationships. This chapter also describes the consequences when
there is a dysfunctional inadequacy or excess in the fulfillment of these roles, and their clinical management.
The results of variations in family structure, rather than
function, are discussed in Chapter 9.
The familys influence on a child is perhaps the most
significant determinant of a childs development. There
are important genetic and constitutional factors that are
present at birth and that continue to influence the child
throughout life. In the process of helping children grow
and develop, the family and its functioning stand out
as the strongest environmental factor. Although family structures, styles, and behavior patterns are varied
in our culture (Bronfenbrenner, 1986) and around the
world, the family is still the central social institution in
all human societies.
FAMILY FUNCTIONING
There are many variations not only in family form, but
also in family functioning. All families have strengths
and weaknesses. All families place different emphasis on
different tasks at different points in the familys life cycle
(Walsh, 1982).
103
104
Dysfunctional
I nadequacy
Dysfunctional
Excess
Protection
Failure to protect
Child abuse
Food
Housing
Underfeeding
Failure to thrive
Homelessness
Health care
Medical neglect
Overprotection and
overanxiety
Overfeeding,
obesity
Multiple
residences
Yo-yo/
vagabond
children
Excessive
medical care
Munchausen
syndrome by
proxy
Task
Supply Physical Needs
Although there are many specific and specialized family functions, we can condense the functions pertaining
to child rearing into three general categories: (1) to supply physical needs; (2) to provide developmental, behavioral, and emotional needs; and (3) to socialize or teach
about relationships (Table 10-1). In the realm of supplying physical needs, the family must provide protection,
food, shelter, health care, and other material goods. In
the second area, the family should stimulate development and intellectual growth, provide guidance through
approval and discipline, and meet needs for affection.
The third category of function is socialization or teaching. This function involves helping the child relate initially with family members and later with external social
networks (extended family, peers, school, and neighborhood) and with society in general. This last function
may be termed the promotion of citizenship.
Some families are affected by pervasive parental dysfunction. The nature of this kind of dysfunction threatens all areas of family function and the integrity of the
family unit.
Given the multitude of complex tasks that families
strive to accomplish, it is reasonable to ask what constitutes normal family functioning. The answer depends
on ones definition of the term normal. From the childs
point of view, normal means that a family is meeting the
childs needs.
Providing
Developmental,
Behavioral, and
Emotional Needs
Stimulation
developmental
and cognitive
Understimulation
Neglect
Guidanceapproval
and discipline
Inadequate
approval
Overcriticism
Psychological
abuse
Inadequate
affection
Emotional neglect
Rejection
Hostility
Affectionacceptance,
intimacy
Overstimulation
Hothousing
Parental
perfectionism
Overindulgence,
spoiled
child
Sexual abuse
Incest
Provide and
Teach Social
Relationships
Socialization
Intrafamilial
relationships
Attenuated family
relationships
Distanced parents
Extrafamilial,
community
relationships
Boundary-less
families
Deficiency in
training in
extrafamilial
relationships
Parenting
enmeshment
Overinvolved
relationships
Insular families
Excessive
restriction
from
extrafamilial
relationships
times spoken) message to the child: You are bad, worthless, and unloved. An unknown factor in the effects
of family dysfunction is the resilience of a given child.
Ginsburg (2007) has detailed the elements and effects of
individual resilience.
The factors responsible for and related to dysfunctional parenting are numerous, including personal problems of the parents, a variety of acute and chronic social
stresses, and challenges presented by the child. Rather
than present a list of these factors at once, we introduce them in the following sections, where they are most
pertinent.
PHYSICAL NEEDS
Neglect
Physical Abuse
Because there are state laws and sophisticated reporting systems for protecting children from physical abuse,
we now have some idea of its incidence. The term child
abuse is used as if it were a diagnosis, when it really
describes a category or class of disorders that represent
many different forms of family dysfunction. The 2006
report of the U.S. Department of Health and Human
Services indicates that there were more than 3 million
reports of abuse and more than 1 million substantiated
reports. The rate of reports was 43 per 1000 population. Physical abuse was documented in 24.5% of the
cases. It is believed, however, that there is gross underreporting of physical abuse, and that official reports may
represent only half of the actual number of cases. The
breakdown of the forms of abuse is shown in Figure
10-1. The American Academy of Pediatrics (Kellogg,
2007) has issued a statement on abuse evaluation.
Definition
Part of the problem of accurate reporting is the difficulty
of uniformly defining physical abuse. Each state designates physical abuse in its own child protective laws.
Each person may interpret abuse in his or her own way,
based on numerous individual factors, such as age, sex,
religion, cultural group, experiences as a child, experiences as an adult, and professional training. Giovannoni
and Becerra (1979) showed that physicians and attorneys differ in their perceptions of abuse. Notions that
child abuse exists and that each child has a right to societal protection from injury are evolving concepts. The
first child abuse laws did not appear until the late 1960s.
With all the nuances involved, clearly and precisely defining abuse as a risk factor is difficult. Child abuse is
injury of a child by a parent or other caregiver either
deliberately or by omission. Within a group of children
captured by such a broad definition are children who
have been murdered or repeatedly tortured by a deviant
criminal parent and children who have been overzealously punished for a misbehavior on a single occasion
(Fig. 10-2). At our current level of sophistication, it is
difficult to define meaningfully the risk in terms of developmental or behavioral effects. We use the term child
abuse as if it were a solitary diagnosis when in reality it
reflects a spectrum of disorders.
Contributing Factors
Just as definitions and forms of abuse vary, so do reasons for child-harming behavior (Ludwig, 1993). Many
factors are relevant. Why would a parent hurt a child?
Table 10-3 lists these contributing factors and divides
Type of Maltreatment
Protection
52.3%
Physical
Abuse
24.5%
Other
14.4%
Sexual
Abuse
Emotional
Maltreatment
Medical
Neglect
Unknown
105
12.6%
4.5%
2.9%
0%
0%
10%
60%
Figure 10-2. A 6-year-old boy with a history of fire setting who was
overdisciplined by his mothers touching his hands to fire, producing
second-degree burns of both hands.
106
Child Factors
Temperamental difficulty in the child
Child fails to meet parental expectations
Child is symbolic of something negative
Family Factors
Family pattern of physical violence
Isolationabsent or unhelpful extended family
Community Factors
Lack of support and community resources for parents
Factors that contribute to social isolation
Societal Factors
High rate of family mobility
Tolerance of corporal punishment
High level of violence in society
Devaluation of children
107
108
Laboratory
X-ray
Observed
interaction
Head Injuries
Torn frenulum of upper or lower lip
Unexplained dental injury
Bilateral black eyes with history of single blow or fall
Traumatic hair loss
Retinal hemorrhage
Diffuse or severe central nervous system injury with history
of minor-to-moderate fall (<3 m)
Skin Injuries
Bruise or burn in shape of an object
Bite marks
Burn resembling a glove or stocking or with some other
distribution suggestive of an immersion injury
Bruises of various colors (in various stages of healing)
Injury to soft tissue areas that are normally protected (thighs,
stomach, or upper arms)
Bone Injuries
Rib fracture in the absence of major trauma (e.g., motor vehicle
accident)
Complex skull fracture after a short fall (<1.2 m)
Metaphyseal long bone fracture in an infant
Femur fracture (any configuration) in a child <1 year old
Multiple fractures in various stages of healing
Laboratory Studies
Implausible or physiologically inconsistent laboratory results
(polymicrobial contamination of body fluids, sepsis with
unusual organisms, electrolyte disturbances inconsistent with
the childs clinical state or underlying illness, wide and erratic
variations in test results)
Positive toxicologic tests in the absence of a known ingestion or
medication
Bloody cerebrospinal fluid (with xanthochromic supernatant) in
an infant with altered mental status and no history of trauma
From Wissow LS: Child abuse and neglect. N Engl J Med 332:1423-1431,
1995.
the physician may arrive at a level of suspicion requiring a report of abuse. Wissow (1995) has published a
compact list of the common signs and symptoms that
should alert the clinician to consider the diagnosis of
abuse (Table 10-5).
Each state has a reporting law mandating physicians
to report suspected abuse and legally protecting them
for doing so. The steps in case management are shown
in Figure 10-7. The report of suspected abuse should be
followed by an investigation by the local Child Protective Services (CPS) agency. It is the responsibility of CPS
to evaluate the strengths and weaknesses of the family and to determine a plan for remediation. When the
extent and nature of abuse has reached a criminal level,
109
Food
Underfeeding: Failure to Thrive and Starvation
Failure to thrive is a term that is used to describe children
who are not growing according to normal standards.
This problem, which is described in detail in Chapter 60,
is often an outcome of family dysfunction. Block and
Krebs (2005) authored an American Academy of Pediatrics statement about failure to thrive as a manifestation
of child neglect.
Parents may underfeed children for various other reasons ranging from poverty to inappropriate selection, as
in food fads (see Chapter 58). Some parents may be influenced by media stereotypes of beauty and strive to keep
their child fashion-model thin. Underfeeding to the point
of death is termed starvation. There are many clinical
examples of this degree of family dysfunction.
Housing
Homelessness
In recent years, the number of children being raised in
families without housing has increased dramatically. It
is estimated that single mothers and young children constitute more than one third of the 2.5 million homeless
individuals in the United States (Bassuk and Rosenberg,
1990). The plight of these families has only more recently
begun to be documented. Although the root causes of
homelessness lie in societys failure to provide adequate
economic assistance to families living in poverty, its dire
effects on psychological well-being and social relationships are many. Family integrity is undermined, family
life is disrupted, and family relationships are strained and
torn apart. Life in homeless shelters is chaotic and stressful. Families are often crowded into a single room and are
obliged to share toilet and eating facilities with dozens of
other families in similar circumstances. Parents often feel
inadequate, ineffective, and overwhelmed by a sense of
powerlessness. Hopelessness, helplessness, apathy, confusion, and uncertainty also are common (see Chapter 18).
Multiple Homes
Children with an oversupply of homes have been described as yo-yo and vagabond children. These are
children who have too many homes, as may occur in
privileged wealthy families who may not appreciate the
adverse effects of not having a single home. It also occurs while parents fight over who has custody and authority. Moore (1975) has described a series of 23 such
cases, but the number of families experiencing this type
of dysfunction is increasing as divorce rates increase.
The effects of such custody relationships are many.
Children are unsettled, knowing neither where they
live nor who is making the rules. Sometimes, a child is
110
Health Care
Medical Neglect
The distinction between medical neglect and nonadherence is a fine one. Nonadherence is the act of not following medical advice. There may be a good reason (e.g.,
the wisdom of the patient), or it may simply be a lack of
motivation, resources, or understanding. Studies of rates
of compliance for simple antibiotic regimens show them
to be quite low even for intelligent and educated parents
consulting pediatricians in private practice. When lack
of compliance results in actual injury to the child, it falls
into the category of medical neglect. Because providing
for a childs health is an important family function, failing to do so represents a form of dysfunction.
There are no official reports on the incidence of medical
neglect. Increasing numbers of children do not receive regular well-child care. Immunizations also have been documented as being inadequate in substantial segments of the
population. Some children die because their parents have
not sought appropriate care for them. This pattern may
begin in the prenatal period. Investigators have shown that
women who do not get adequate prenatal care also are
less likely to obtain care for their newborns postnatally.
In managing medical neglect, physicians need to explain their recommendations carefully to parents. Where
nonadherence is occurring, the physician should document the treatment recommendation and clarify again
the rationale for the therapy. Some physicians may wish
to develop a formal contract with the parents. When a
child is injured by medical neglect, the issue needs to be
brought to CPS. In this circumstance, outside intervention is required to remediate the family dysfunction.
DEVELOPMENTAL, BEHAVIORAL,
AND EMOTIONAL NEEDS
StimulationDevelopmental and Cognitive
Understimulation: Neglect
Pediatricians occasionally encounter parents who do not
exhibit sufficient developmental or intellectual stimulation for their children. Such parents are likely to have
been raised in families with similar difficulties. They may
111
112
Parental Overindulgence
Parents in overindulgent families smother their children
with an overabundance of love and nurturance, but
are unable to set suitable limits or enforce restrictions.
There is excessive approval and insufficient discipline.
Whether out of fear of harming the child, anxiety about
being disliked or rejected by the child, discomfort with
a significant other. People in neglectful families are emotionally disconnected from one another, behaving as if
they were living on different planets. Parents may have
trouble understanding their childrens needs for love,
affection, closeness, and support, or they may feel too
overwhelmed or powerless to meet these needs on a consistent basis. Neglectful parents usually come from families in which, as children, they were ignored or neglected
by their parents. They also may lack emotionally satisfying adult relationships. Forced to rely on themselves
for support, afraid of their own dependency needs, and
reluctant to admit their pain, these parents are highly
ambivalent about their childrens needs, particularly
when their children are hurting, crying, or looking for
emotional support. They may feel jealous or resentful of
their children and may perceive them as excessively demanding and impossible to satisfy. They may be so preoccupied with their own needs that they never consider
the childrens point of view. Alternatively, they may feel
so angry and resentful about having children that they
simply ignore them.
For children, affectional neglect may have devastating consequences, including failure to thrive, developmental delay, hyperactivity, aggression, depression, low
self-esteem, running away from home, substance abuse,
and a host of other emotional disorders. These children
feel unloved and unwanted. They may strive to please
others, or they may misbehave to receive the attention
they crave. They may withdraw from people and appear
uncaring and indifferent. They may be afraid of emotional closeness and may shun intimacy in relationships.
They are at risk for emotional problems throughout the
rest of their lives. The degree of neglect and the individual vulnerability apparently affect the magnitude of
the consequences.
Severe cases of neglect are generally easy to spot
(e.g., when the childs development is grossly delayed
or shows evidence of failure to thrive), but more subtle
examples are harder to detect. Emotional neglect should
be suspected if the primary care practitioner observes a
relative lack of spontaneous, positive, parent-child interactions in her or his office; if the parent seems uninformed and apathetic about the childs development and
behavior; or if the child is exhibiting signs of emotional
distress without an obvious cause. Questions about daily
routines and sources of support to the parent should
precede any direct queries into the parent-child relationship. Encouraging the parent to describe the childs
positive attributes and focusing the discussion on these
strengths can serve as an opening to raising matters of
concern. It is important for the parent to hear these
concerns directly from the practitioner. Vague, general,
or indirect comments should be avoided, and specific
recommendations should be made regarding the childs
need for more sustained and positive interactions with
the parent. How important the parent is to the child,
and how vital it is for the parent to receive more support from his or her social network so as to be more
emotionally available to the child also are important issues to emphasize. Most neglectful parents feel isolated
and unsupported in their own families and feel that their
own emotional needs are not being met. Encouraging
113
114
a distinctive set of behavioral or developmental problems has yet to be proved. The consequences of sexual
abuse may be confounded by other factors, such as parental divorce. When sexual abuse is intrafamilial, its
disclosure may lead to parental divorce. Faller (1991)
reported several distinct interaction patterns of these
variables.
Finkelhor and Browne (1985) have characterized the
aftermath of sexual abuse into four possible traumagenic
dynamics. The first is traumatic sexualization, in which
the childs introduction to sexuality becomes distorted,
leaving the child with excessive fears or feelings about
sexuality and sexual behavior. Second, the child may
feel powerless. Third, some children indicate that they
feel different from other children (stigmatization). They
may even feel that they can be picked out of a group of
other children because of their experience. Fourth is a
sense of betrayal and the feeling that adults cannot be
trusted. These dynamics are clearly present in many victims of sexual abuse with whom we have worked. They
are not constants, however. Issues of sexuality, power,
stigmatization, and trust all are a part of the normal
developmental process. One can easily imagine the tremendous impact an abusive experience might have on a
child who is already struggling.
Some authors have suggested that there may be a
sex difference in the way the risk factors affect boys
compared with girls (Farber et al, 1984). The Minnesota Longitudinal Study (Erikson and Egeland, 1987)
indicates that girls may react by becoming more quiet
and dependent. Male victims may act out their abuse
on younger children and identify with the aggressor. In
our experience, numerous adolescent boys have been
perpetrators of sexual abuse involving young girls. We
hypothesize that this may result from the adolescents
being stimulated and instructed by readily available
pornographic magazines, books, and films, and by having been victims of abuse themselves.
Beyond the developmental and behavioral effects
of child sexual abuse, there are serious physical consequences. About 5% to 10% of child sexual abuse
cases are diagnosed by the documentation of a sexually
transmitted disease. Pregnancy also may be the result
of sexual abuse. There are documented cases of human
immunodeficiency virus infection as a consequence of
sexual abuse.
In managing sexual abuse, the physician must open his
or her mind to the possibility that the sexual abuse exists, and that it apparently is a common phenomenon in
society. When one is willing to believe that sexual abuse
of children occurs, the recognition of cases becomes easier. Children may draw attention to their diagnosis by
telling about their abuse or more likely by showing their
distress in trying to keep it secret. The signs and symptoms may be specific or may be nonspecific and vague.
Many of the behavioral problems presented throughout
this book may be manifestations of abuse. The list of
nonspecific symptoms (Ludwig, 1993) includes enuresis,
encopresis, school avoidance, runaway behavior, development of phobias, and others. When children manifest any change in behavior or personality, child sexual
abuse should be considered.
SOCIALIZATION
Intrafamilial Socialization
Dysfunctional Inadequacy in Socialization
within the Family: Distant, Disengaged,
or Absent Parents
Functional families provide and teach about family
social relationships. Parental distancing or attenuated
family relationships result from a variety of conditions.
Parents may have psychiatric disorders, such as schizophrenia, manic-depressive illness, recurrent depressions,
alcoholism, substance abuse, and a host of personality
disorders. They may be emotionally unavailable to their
children as a result of separation, divorce, abandonment, military service, incarceration, or physical illness.
They may lack the ability to empathize with their children or to understand and respond to their basic emotional needs. They may be so consumed by excessively
demanding jobs, by their own emotional difficulties, or
by conflicts with their partners that they cannot provide their children with love and a sense of safety and
security. Leaving aside situations of frank abuse or neglect (discussed in earlier sections), disengaged parents
are frequently inconsistent, erratic, and ineffective in
their approaches to child rearing. It is likely that this
inconsistency itself is most detrimental to the childs development.
Children in families with distant or disengaged parents do not learn by experience about normal family
social roles and are at heightened risk of developing emotional and behavioral problems. Gottman and DeClaire
(1997) have written about the importance of raising an
emotionally intelligent child. This risk is increased
further if the child possesses a particularly difficult temperament, is physically disabled or intellectually limited,
or has limited coping skills. Children may exhibit signs
of depression, anxiety, somatization, hyperactivity, conduct problems, or emotional maladjustment in response
to parental dysfunction. These signs tend to ameliorate
when parental functioning improves and to worsen
when parental dysfunction increases. When parents
with psychiatric disorders experience an exacerbation
of their symptoms, it is not unusual for their children to
become more anxious or depressed. When children experience repeated separation from or abandonment by
a particular parent, they usually exhibit signs of intense
distress during the transition period immediately after
the separation. Repeated loss of contact with a parent is
generally extremely traumatic.
Physicians who encounter families with distanced or
disengaged parents have three tasks: (1) to develop a
helping relationship with the parents on behalf of providing care to the children, (2) to gain the trust of parents
and learn about their difficulties, and (3) to support parents in their efforts to obtain treatment or help for their
problems. Without gaining familiarity with the parents
issues, it is difficult to avoid becoming judgmental and
critical of them. Parents who are dysfunctional usually
appreciate the physicians efforts to help them become
more effective in their parental roles. In situations when
there is a serious split between the parents (e.g., where
one parent is reporting on the dysfunctional behavior of
the other), it is imperative that the clinician meet both
parents and get to know their strengths and weaknesses.
If their trust can be gained, it is easier to win their cooperation in efforts to improve their parenting. It also
is important for the physician to have access to mental
health and social service resources to refer dysfunctional
parents for treatment. When making such referrals, it is
important that the physician maintain an ongoing relationship with the family and continue to support them
in their attempts to cope with the dysfunctional aspects
of their lives.
115
friends homes) and may exhibit overt signs of separation anxiety. As with other forms of dysfunction, this
ranges from minimal to severe.
Children whose parents are overinvolved also do not
experience and learn normal family roles. Anxiety about
normal developmental tasks and preoccupation with
their parents emotional well-being leads some children
to avoid developing friendships or to resist going to
school. In the most severe cases, children can present
with anxiety disorders, depression, and somatization
disorders.
The physicians approach to overinvolved or enmeshed families is outlined in the section on overprotective families. The most important function the physician
can perform is to challenge firmly the parents to invest
their emotional energy in areas other than their children.
Emphasizing that the children need to separate from
them to become healthy, independent, and self-reliant
adults can help parents to relax their grip and to allow
their children some emotional freedom. If discussion of
these issues fails to result in change, the family should be
referred for psychotherapy.
Extrafamilial Socialization
Deficient Training in Extrafamilial
Relationships: Undercontrolling,
Boundary-less Families
Functional families provide experience and instruction
in extrafamilial relationships: what they are and how
they differ from intrafamilial ones. Undercontrolling
families seem to have no boundaries with the outside
world. There is a tendency for family members to be
overly sociable, friendly, and emotionally accessible to
nonfamily members. At times, relationships outside the
family take precedence over those within the family. Romantic involvements, intense friendships, business relationships, neighbors, and acquaintances seem to occupy
the bulk of family members time. Parental roles and
executive functions are de-emphasized, and children are
given unusual freedom and latitude to come and go and
do as they please. The term hurried children has been
used to describe children with excessive freedom and insufficient supervision who become responsible for themselves before they are emotionally prepared.
Children in undercontrolling families do not experience and learn appropriate extrafamilial relationships.
They are extremely conscious of their social standing
and are constantly in search of social acceptance. At
the same time, these relationships may be so numerous that they fail to form any deep attachments and
ultimately end up without a foundation for true citizenship or friendship. Such children often experiment with
sex, drugs, and alcohol at a young age and may first be
exposed to these activities by observing their parents.
Beneath their pseudomature appearance, children from
unrestricted families are likely to be anxious, insecure,
and unhappy. In severe cases, these children may become depressed, withdrawn, or apathetic about life.
Family conflicts, school failure, indiscriminate sexual
relations, and other forms of acting-out behavior also
may be seen.
116
s ubstance abuse, and situations in which there is evidence of chronic and severe family discord leading to
domestic violence. Although the incidence of serious
psychopathology in parents is difficult to measure,
epidemiologic studies report that 20% of the general
population have alcoholism, 5% have other substancerelated disorders, 6% have depression, 1% have bipolar
affective disorder, 1% have schizophrenia, and 5% have
mental deficiency. Given these statistics, it is reasonable
to conclude that a substantial number of children are
being raised by parents who are mentally ill or mentally
impaired.
There is considerable evidence from research and
clinical literature that mental disorders in parents have
deleterious effects on child development. In an early
study from the 1920s, children of parents with affective disorders or psychosis had a 21% incidence of
behavior disorders, and children whose parents had antisocial personality disorders had a 45% incidence of
problems (Minde, 1991). A more recent study of children of schizophrenics found the incidence of conduct
disorder to be 9.5% compared with 1.6% of control
subjects (Rutter and Quinton, 1984). Among children
with parents with affective disorders, the rate of behavior problems when there was one affected parent was
24%; with two affected parents, the rate increased to
74% (Beardslee et al., 1983; Weissman et al, 1987). The
combined effects of genetic loading, disordered parenting, and family discord seem to account for these childhood disturbances.
The precise mechanisms by which children in families with severe dysfunction themselves become afflicted
with mental disorders is still the subject of intense research. Current theories emphasize several important
aspects, including decreased parental responsiveness
to the childs needs (owing to excessive preoccupation
with themselves), inadequate protection of the child
from extremes of affect (e.g., excitement, anger, distress), inconsistent supervision, ineffective disciplinary
practices, excessive conflict and hostility in the family
(much of which may be directed at the child), frequent
separations and disruptions to family life (e.g., hospitalizations, departures from the family, migration), and
unpredictable or erratic behavior. Regardless of the
nature of the psychiatric disturbance itself, parenting is
an extremely difficult responsibility for individuals who
are mentally ill. The effects on the child are mediated by
factors such as the duration and intensity of the parents
mental disorder, comorbid conditions (e.g., depression
and alcoholism), the effectiveness of treatment, parent
adherence to treatment, and the availability of social
support. If the child does not have other parenting resources readily available, the negative is greater. It also
seems that younger children and boys are at greater risk
of developing psychiatric disorders.
Two patterns of parenting are particularly deleterious to child development: the detached and unresponsive pattern, and the hostile and overcontrolling pattern.
In the former case, children are left neglected for long
periods, often leading to an insecure pattern of attachment to the parent and to understimulation of cognitive
functioning. In the latter case, children are frequently
SUMMARY
Physicians tend to speak in terms of good families
and bad families. In doing so, they are really applying a broad qualitative judgment about family function.
In working with families, a more helpful approach is
to look more precisely at family structure (anatomy)
and function (physiology), and to evaluate for areas
of strengths and areas of weakness. In doing so, we
can build on the functional parts (i.e., the strengths)
and aid in the correction of dysfunction. This chapter
has addressed family function in a more detailed way,
looking at three main functions of the family (1) as a
supply agent for food, clothing, housing, and health care;
(2) as a developer of behavioral and emotional needs;
and (3) as a model for socialization inside the family and
in relationships to the broader society. Families may have
areas of dysfunction in one or more of these domains.
Dysfunction can occur on one of two dimensions, inadequacy or excess; neither is good for promoting healthy
and happy children. Dysfunction can be stark in the case
of abuse or indolent as in the case of the child who feels
rejection. As providers of health care for children, we
also are providers of care for the family.
REFERENCES
Appelbaum AS: Developmental retardation in infants as a concomitant of physical child abuse. J Abnorm Child Psychol 5:417-422,
1977.
Bassuk EL, Rosenberg L: Psychosocial characteristics of homeless children and children with homes. Pediatrics 85:257-261, 1990.
Beardslee WR, Bemporad J, Keller MB, et al: Children of parents with
major affective disorder: A review. Am J Psychiatry 140:825-832,
1983.
Block RW, Krebs NF: Failure to thrive as a manifestation of child neglect. American Academy of Pediatrics, Committee on Child Abuse
and Neglect, Committee on Nutrition. Pediatrics 116:1234-1237,
2005.
117
118
Martin HP: The Abused: A Multidisciplinary Approach to Developmental Issues and Treatment. Cambridge, Ballinger Publishers,
1976.
McIntosh BJ: Spoiled child syndrome. Pediatrics 83:108-115, 1989.
Meadow R: Munchausen syndrome by proxy: The hinterland of child
abuse. Lancet 2:343-345, 1977.
Minde K: The effect of disordered parenting on the development
of children. In Lewis M (ed): Child and Adolescent Psychiatry:
A Comprehensive Textbook. Baltimore, Williams & Wilkins,
1991, pp 394-407.
Moore JG: Yo Yo children, victims of matrimonial violence. Child
Welfare 54:557-566, 1975.
Murdoch G: Social Structure. New York, Free Press, 1965.
National Child Abuse and Neglect Data System (NCANDS): child
Abuse and Neglect Fatalities: Statistics and Intervention. u.s.
Department of Health and Human Services, 2008. Available at
www.childwelfare.gov.
Reece RM (ed): Child Abuse: Medical Diagnosis and Management.
Philadelphia, Lea & Febiger, 1994.
Rosenberg DA: Web of deceit: A literature review of Munchausen syndrome by proxy. Child Abuse Negl 11:547-563, 1987.
Rosenfeld AA, Wise N: The Over-Scheduled Child: Avoiding the Hyper-Parenting Trap. New York, St Martins Griffin, 2001.
Russell D: The incidence and prevalence of intrafamiliar and extrafamiliar sexual abuse of female children. Child Abuse Negl 7:133146, 1983.
Rutter M, Quinton D: Parental psychiatric disorder: Effects on children. Psychol Med 14:853-880, 1984.
Sandgrund A, Gaines RW, Green AH: Child abuse and mental retardation: A problem of cause and effect. J Ment Defic Res 19:327336, 1975.
11
Vignette
At a 5-year-old boys kindergarten checkup, his mother confides that she is very concerned about his
relationship with his 8-year-old sister. He follows her constantly, especially when she is with friends, and
she has begun to make fun of him for it; in return, he sometimes lashes out physically. Also, the boy has
been assigned to the same kindergarten teacher that his sister had several years ago, who remembers
her as a perfectly behaved, highly verbal student, and his parents, who feel that their son is the noisier,
rowdier, more athletic child, are worried that he will not measure up to the teachers expectations.
It has been said that each child grows up in a different family; the same mother and father, shaped by time
and experience, become slightly different parents with
a slightly different marriage, and each successive child
grows up in a unique domestic world. Sibling relationships have a great deal to do with shaping those different and specific families in which children grow and
develop.
The sibling relationship is fraught with family tension, with historical, literary, and even biblical resonance. On the one hand, sibling status is a byword for
love and loyalty, whether the closeness of a military
band of brothers, or the everlasting friendship vows
of a sisterhood or sorority. Literature is full of brothers
and sisters who protect one another, whether in a fairy
tale, such as Hansel and Gretel, or a classic tragedy: In
Sophocles Antigone, the heroine, who will incur her
own death to give her brothers body a proper burial,
declaims, A husband dead, there would be another
for me, and a child from another man, if I lost this one,
but with mother and father both hidden in the house
of Hades, there is no brother who would be produced,
ever (translation, Tyrrell and Bennett, 1996).
On the other hand, siblinghood is so associated with
hostility and competition that the word sibling seems
almost automatically to evoke the word rivalry. Long
before anyone used the term sibling rivalry, the first
murder in the book of Genesis was committed out of anger when Abels offering was preferred to Cains. From
the Mark of Cain to the evil sisters (and the feuding
half-brothers) in King Lear, the sibling relationship
has long been associated with tension, competition, and
lifelong antagonism.
In other words, siblings spend their childhood in
close proximity, siblings often feel themselves closer and
more similar than they are to anyone else, and siblings
BIRTH ORDER
A tremendous amount has been written about birth order: birth order and personality, birth order and temperament, birth order and cognition, birth order and
sexual orientation. Birth order effects, when delineated,
have been attributed to environmental differences and
to biologic effects on the developing fetus. Sometimes
the literature on birth order can leave one with the
sense that many traits can be handily explained by birth
orderand that their inverses can be explained as well.
An independent and resilient first-born child is identifying with the authority and autonomy of the parents,
and exercising leadership and dominion over younger
siblings; an independent and resilient younger child is
defining a distinct niche as a way of differentiating from
the older siblings. Nevertheless, there are some generally
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Part II
SIBLING RIVALRY
Antagonistic and competitive interactions between
brothers and sisters have been perceived and understood and chronicled since ancient times and have been
described in vastly different cultures, countries, and
conditions. Although sibling rivalry probably would be
121
BLENDED FAMILIES
When parents divorce and remarry, and families combine and recombine, children may need to adjust to
step-parents, step-sisters, and step-brothers. The same
problems can apply when older children come into a
family as adoptive siblings or as foster children. Chapters
12 and 13 provide a full discussion of these situations.
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Part II
and providers. Parents coping abilities and family resilience are important for helping children cope with the
stress of sibling disability and illness.
A child with special needs alters the family constellation; a brother or sister may experience the sense
that all the parents attentions and emotions are concentrated on the more vulnerable child and may
deeply resent the time that the parents spend taking that child to medical or therapy appointments.
Brothers and sisters of children with autistic spectrum
disorders reported feeling anger at the aggressive behaviors associated with those disorders (Ross and
Cuskelly, 2006). At the same time, as a child comes to
understand that a brother or sister is struggling with
illness or disability, there may be a great deal of guilt
at having escaped the problem and concomitant guilt
about feeling resentment. When there is a child in a
family who faces extra struggles and extra limitations,
other children may come to feel that they are being
saddled with an extra weight of parental expectations
and may react to this with a mixture of resentment,
anxiety, and pride.
On the one hand, some children feel acute shame
about a brother or sister who is visibly differentwith
obvious physical anomalies or with severe autism. This
shame is often accompanied by guilt and a sense that the
parents would be angry or disappointed if they knew.
On the other hand, many children take on the roles of
protector, guide, and major supporter for brothers and
sisters with special needs. As with all sibling relationships, these different emotions and behavior patterns
are not rigidly separated: a 9-year-old girl who has endless patience at home for her autistic brother and understands his limited communications better than anyone
else may find herself hideously embarrassed when he has
a meltdown at the mall just as a few of her classmates
come along; she then may feel guilty and confused about
her own embarrassment.
family babysitters because the family is in difficult economic straits or, especially in immigrant families, because of cultural expectations that an older child should
automatically take on this responsibility. High school
students whose peers are not constrained by these expectations often believe that their sibling obligations are
preventing participation in extracurricular activities, or
in a normal social life, and this resentment can create
substantial family stress.
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Table 11-1. Strategies for Providers When Parents Express Concerns about Sibling Behaviors
Get a full description of the problematic behavior; elicit details about family practices and domestic arrangements
Where children sleep, where they do homework, where they play, where they store personal possessions
Specific precipitants and flashpoints for sibling conflict, including times of day, family context, and setting
How parents handle sibling conflicts
What strategies have worked in the past
The history of the sibling relationship; the birth of the younger child
Talk to the child one-on-one; try to sort out what the child identifies as the particular problems, flashpoints, and unfairnesses
Help parents see what is age-appropriate behavior; address the issue of older children, and whether they take on parental roles
and responsibilities
Offer developmentally appropriate strategies
Spend separate time with each child, structured around that individual childs needs and interests
Consider family meetings to deal with controversies and conflicts in an organized fashion and guarantee that everyone is heard
Avoid comparisons and contrasts between siblings; avoid labels such as the smart one or the pretty one
Encourage children to seek out different spheres of interest, activity, and achievement
Do not consistently sacrifice one childs interests, activities, or free time to the achievements of a sibling
Establish and follow codes of behavior and fairness so that arguments and conflicts can be settled with rules that apply to all children
Rotating some tasks by turns
Respecting the privacy of siblings rooms (or their desks, or their backpacks)
Be wary of making a fetish of absolute equal treatment; do not promise exactly the same attention, gifts, special treats, or prerogatives
Set appropriate limits for sibling behavior
Younger siblings may need to be protected from physical harm
Older siblings need to know that theyand their belongingsalso will be properly protected
Allow siblings some reasonable latitude to work out conflicts
Reassure parents that sibling rivalry is not unusual and in particular is not a reflection of poor parenting
SUMMARY
Sibling relationships have powerful effects that shape
the family environment in which a child grows up; the
complexities of these relationships remain intense often
into adulthood. Many different variables of birth order, family shape, and structure affect sibling dynamics
and moderate the influence of those dynamics on behavior, development, and personality; birth order also
has been linked to intelligence and sexual orientation.
Sibling rivalry may be the most common issue that parents bring up at health care visits, but there are many
other contexts in which clinicians may want to consider
the power of sibling relationships and interactions, the
strength and nature of the bonds, and the lasting influence of brothers and sisters.
REFERENCES
Bogaert AF, Liu J: Birth order and sexual orientation in men: Evidence
for two independent interactions. J Biosoc Sci 38:811-819, 2006.
Brody GH: Sibling relationship quality: Its causes and consequences.
Annu Rev Psychol 49:1-24, 1998.
Hamilton WD: The genetical evolution of social behavior. I and II.
J Theor Biol 7:1-16. and 7-54, 1964.
Kim J-Y, McHale SM, Osgood W, Crouter D: Longitudinal course
and family correlates of sibling relationships from childhood
through adolescence. Child Dev 77:1746-1761, 2006.
Kristensen P, Bjerkedal T: Explaining the relation between birth order
and intelligence. Science 316:1717, 2007.
Ross H, Ross M, Stein N, Trabasso T: How siblings resolve their conflicts: The importance of first offers, planning, and limited opposition. Child Dev 77:1730-1745, 2006.
Ross P, Cuskelly M: Adjustment, sibling problems and coping strategies of brothers and sisters of children with autistic spectrum disorder. J Intell Dev Disabil 31:77-86, 2006.
Steelman LC, Powell B, Werum R, Carter S: Reconsidering the effects
of sibling configuration: Recent advances and challenges. Annu
Rev Soc 28:243-266, 2002.
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Part II
Sulloway FJ: Born to Rebel: Birth Order, Family Dynamics, and Creative Lives. New York, Pantheon Books, 1996.
Tyrell WB, Bennett LJ (trans.): Sophocles Antigone. Translated
with Introduction and Notes. 1996. Available at www.stoa.org/
diotima/anthology/ant/. Accessed September 30, 2008.
Waldinger RJ, Vaillant GE, Orav EJ: Childhood sibling relationships
as a predictor of major depression in adulthood: A 30-year prospective study. Am J Psychiatry 164:949-955, 2007.
12
SEPARATION, DIVORCE,
AND REMARRIAGE
J. Lane Tanner
Vignette
Eric, age 7, was referred to a developmental-behavioral pediatrician for evaluation of symptoms of
attention-deficit/hyperactivity disorder. In completing the report-from-school form, Erics second
grade teacher had described Eric as the most hyperactive boy she had known in her 30 years of
teaching. The pediatrician was surprised on his first meeting with Eric at how quiet and somber
he seemed throughout their initial interview, never moving from his chair over the course of an
hour-long meeting.
In discussing the family background with Erics mother, including directly asking her about
possible stressful experiences for Eric, the pediatrician learned that the parents relationship had been
growing increasingly conflictual over the past 2 years. Eric had witnessed many episodes of intense
arguing, screaming, and name-calling between them. Periodically, such a fight would lead to the
father storming out of the house, not to be seen again by Eric for a period that varied unpredictably
between several days and a few months. Then the father would reappear, without explanation to his
son, and a new period of tension and building conflict between the parents would ensue.
The pediatrician found no evidence for neurodevelopmental or learning disabilities in Eric. He
requested meetings with each parent to discuss the emotional impact of their ongoing conflict on
Eric. This led to a series of discussions between Eric and each parent, some of which were facilitated
by the physician. Eventually, the parents separated and started divorce proceedings. Erics behavior
and attention in school was markedly improved in the subsequent year.
Nurture for the developing child begins with the family, and the health of the marital relationship has a direct impact on the care that parents provide. The stable
presence of parents and other family members provides
the foundation of understanding for growing children of
who they are and how their world is configured. Disruptions in these relationships, including the loss of a parent through separation and divorce, or the creation of
a step-family through remarriage, challenges the childs
notions of this stable family universe and carries increased risk for short-term and long-term developmental and behavioral difficulties.
This chapter provides a description of the status of
marital rearrangements in the United States today, current evidence regarding the short-term and long-term
consequences for children whose parents separate or
remarry, and a discussion of potential related roles and
opportunities for pediatric clinicians. American children
now grow up in a wide array of types of parental and
family arrangements, including two parents, married to
each other; two parents, not married; one parent and
a step-parent, with or without step-brothers and stepsisters; single parents, never married; single parents, formerly married; grandparent-led and multigenerational
126
emotional and psychological benefits after the separation, others showing serious but temporary declines in
well-being, and others seeming never to recover fully
(Amato, 2000).
For parents, the redefinition of themselves as single
parents also has short-term and long-term effects. Newly
separated parents must grapple with the immediate reality of being alone with the day-to-day responsibilities of
home and family, and the emotional consequences of
having no one to ask, what do you think? Long-term,
single parents must forge a new set of priorities that permits them to have a life that includes adult friends,
interests, exercise, respite from responsibility, and, especially, whether and when to form a new intimate, adult
relationship.
Parents also must weather the legal consequences
of divorce, including the division of property, determination of ongoing child support, and child custody or
visiting schedules. This is a process that has variable
consequences in terms of time, cost, and emotional turmoil for the parentsall of which depend on the level of
ongoing conflict between the parents versus their ability
to cooperate with each other. Conflicts regarding custody and financial support may be formally resolved by
the parents working together with a divorce mediator,
or in more adversarial fashion in court with each parent
represented by an attorney. Mediation, when possible,
holds the potential for each parent to feel more considered in the terms of their eventual agreement and to
avoid some of the acrimony inevitable with adversarial
confrontations in court. Divorce mediators are not yet
licensed or board certified, however, so their qualifications may be less apparent. Parents may want to retain
their own lawyer as well to review the terms developed
in mediation before agreeing to them (Wallerstein,
2003). For a high-risk minority of parents, nonacceptance of the divorce may take the form of chronic
conflict and persistent child custody battles with the exspouse (Sbarra and Emery, 2005).
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128
Consequences of Remarriage
Given that most divorcing adults remarry, and many
never-married mothers marry men who are not the fathers of their children, life in a step-family has become
commonplace, affecting an estimated one third of U.S.
children (Hetherington, 2005). Adding a second parent
to the household, in most cases, a step-father, provides
the family with new resources, potentially an improved
standard of living, and the availability of another supervising adult who, over time, may achieve parental qualities in his or her ability to nurture the childs
development.
Studies consistently show greater numbers of problem behaviors in children in step-families compared
with children raised by continuously married parents
20% to 25% of children in step-families versus 10% in
two parent families. Whether such behavioral problems
in step-families are connected more with an earlier parental separation than with the new family formation
is unclear. Children in step-families and children being
raised by single parents tend to have similar rates of
behavior problems, however, indicating that the addition of a step-parent in most cases does not confer
protection from emotional and behavioral problems
for children in single parent families. Problem behaviors documented for children in step-families include,
especially, externalizing disorders and lack of social
responsibility, and to a lesser extent lower academic
achievement (Amato, 2005; Hetherington et al, 1999).
Stressors that typically attend a parents remarriage,
and that may help to explain these differences, include
the following:
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130
Custodial arrangements strongly affect the experience and adaptation of the child, and pediatric clinicians may be asked to voice their opinion regarding
what arrangement would be in the best interest of the
child. Joint custody arrangementsespecially those
involving joint physical and legal custodyhave
proven to be particularly complex. Although appearing to represent an equitable and assured relationship
for the child with each parent, a decision in favor of
joint physical custody needs to be carefully thought
through. Evidence for deterioration in the children
has been found when joint custody is attempted in
the context of parents who are locked in ongoing
conflict, and when older children are given no say in
the arrangements (Johnston et al, 1989; Pruett and
Hoganbruen, 1998). Wallerstein (1992) has provided
guidelines for advocacy for the child when joint custody
is being considered (Table 12-3).
The tendency for fathers to become physically and
emotionally disengaged from their children in the
wake of divorce is a risk that primary care pediatricians and other involved clinicians may have a hand
in preventing. For noncustodial fathers, physical distance with their child is an experience for which they
have little preparation. Separation removes them from
the day-to-day knowledge of their childs activities,
challenges, moods, achievements, and needs. If the
fathers relationship with his child before the divorce
was mediated to some degree by the mother, he may
struggle after the divorce with knowing how to build
a new father-to-child, only, relationship. By requesting the presence of the father for a visit soon after the
separation, emphasizing his importance to his child,
short-term and long-term, and offering a longitudinal
relationship to support his parenting efforts, primary
care clinicians may become valued counselors for fathers in their transition to single parenthood (Coleman
and Garfield, 2004).
Child Factors
Signs of maladaptation to marital change
Significant increase in behavior problems or aggression
Changes of overall mood, including especially symptoms
of depression or anxiety
Decline in academic achievement
Evidence for lowered self-esteem, self-efficacy
Increased problems in making and maintaining friendships
Individual child factors that may confer increased vulnerability
or resilience
Temperament and personality
Intelligence
Appearance
Behavioral difficulties
Physical or mental disability
Chronic health needs
131
Developmental-Behavioral Pediatricians
and Developmental-Behavioral Problems
Developmental-behavioral pediatricians and related clinicians are often referred patients for whom separation,
divorce, or remarriage plays a significant role in the referral problem. In some cases, parents are seeking help
for difficulties in child adjustment that they understand
and accept as primarily connected to the marital change.
In other situations, the parents separation becomes a
major factor when the pediatrician is asked to adjudicate
parent disagreements on some aspect of care. Psychopharmacologic treatments for attention-deficit/hyperactivity disorder and other behavioral disorders are an
especially common source of conflict between separated
parents, often fiercely contested between parents who
have a history of a high-conflict postdivorce relationship. Most common of all are developmental-behavioral
problems referred to specialty physicians in which the
marital discord, separation, or family rearrangement is
not recognized by the parents as strongly connected with
the childs symptoms. Problems of anxiety, depressive
symptoms, presumptive attention or learning disorders,
and oppositional-defiant or conduct problems all may
be consequences of parental distress and marital change,
requiring careful focus on the family and the child.
132
SUMMARY
The separation of never-married and married parents
and the divorce and remarriage of parents have become
mainstream American phenomena. The high prevalence
of these family change processes has not diminished
their power, however, to disrupt the sense of security
and the developmental trajectory of the affected child.
Clinicians and families need to appreciate such family
reorganizations as long-term processes, rather than as
distinct events. With this understanding comes a realization of the potential to preserve and support the most
important aspects of parent-child relationships and to
mitigate the now well-documented potential risks, shortterm and long-term, for the child. Pediatric clinicians,
practicing family pediatrics, actively support parents
and the marital relationship as a matter of course in the
care of the child. From this foundation of comprehensive care, the impact of marital change, real and potential, is more easily assessed, and guidance is provided for
parents to help in supporting the childs development
and emotional health.
REFERENCES
Amato PR: Consequences of parental divorce for childrens wellbeing: A meta-analysis. Psychol Bull 10:26-46, 1991.
Amato PR: The consequences of divorce for adults and children.
J Marriage Fam 62:1269-1287, 2000.
133
13
Our adopted daughter remains the sweet, kind-hearted, inquisitive person we met 9 years ago as a
5-year-old in Kazakhstan. She has struggled academically, but charms almost everyone she meets.
Adults and children are drawn to her sweet, caring, and compassionate nature. She is a treasure and
a wonderful example of how a person can survive and thrive despite hardships! Her dad and I have
learned as much from her as she has from us! Over the last 2 months, she has become somewhat
disrespectful to both of us parents, but I think it is the normal independence-seeking of teenagers.
The mother of a teenager adopted from Kazakhstan
ADOPTION
Adoption, the process by which a child legally joins a
family, has always existed in human history. In the past
50 years in the United States, adoption has been transformed from a shameful secret to a widely recognized
and accepted way to form a family. About one out of
International adoptions
Transracial adoptions
Single parent adoptions
Gay or lesbian parent adoptions
Open adoptions
Reunions with birth relatives
Selection of adoptive parents by birth parents
Adapted from Nickman SL, Rosenfield AA, Fine P, et al: Children in adoptive
families: Overview and update. J Am Acad Child Adolesc Psychiatry 44: 987995, 2005.
135
Increased Numbers of
Adapted from Nickman SL, Rosenfield AA, Fine P, et al: Children in adoptive
families: Overview and update. J Am Acad Child Adolesc Psychiatry 44: 987995, 2005.
136
Typical Costs
(Range)
1-2 yr
$30,000-$45,000
Variable
Minimal
International adoption
8-15 mo
$20,000-$40,000
Type of Adoption
Usual Scenario
Infant domestic
adoption
Laboratory Testing
General Health
Complete blood count
Lead level*
Urinalysis
Liver function tests
Thyroid function tests
Calcium, phosphorus
Ferritin
Infectious Diseases
Hepatitis A IgM, IgG
Hepatitis B surface antigen, surface antibody, core antibody*
Hepatitis C antibody*
HIV ELISA (consider also PCR testing for infants <6 months old)*
Stool for ova and parasites, Giardia antigen
RPR (syphilis)
Tuberculin skin test (PPD)*
Vaccine titers to verify immunity for administered immunizations
Additional Tests to Consider Based on the Clinical Findings,
Country of Origin, and Age of the Child
G6PD screen
H. pylori stool antigen
Stool cultures for bacterial pathogens
Newborn screen to State Board of Health (usually includes
hemoglobin electrophoresis)
Malaria smear
6 months after arrival.
ELISA, enzyme-linked immunosorbent assay; HIV, human immunodeficiency
virus; PCR, polymerase chain reaction; PPD, purified protein derivative; RPR,
rapid plasma reagin.
*Repeat
(Table 13-4). Congenital or vertically transmitted infections may occur in any adopted child. Children adopted
from other countries also may have infections that are unusual in U.S.-born children, including intestinal parasites
(approximately 30% to 40% infected) and tuberculosis
(5% to 10%). Other infections, such as congenital syphilis
(1% to 2%), hepatitis B (3% to 5%), hepatitis C (1% to
2%), and HIV (<1%), are less common (Miller, 2005).
137
Developmental Delays
Swaddling
Lack of attention
Lack of stimulation and novelty
Long naps
Other medical risks related to international adoption include anemia (usually iron deficiency, but hemoglobinopathies also occur), lead poisoning (found most
frequently in children arriving from China), and rickets
(especially in children adopted from northern latitudes).
Phenotypic changes suggesting prenatal exposure to alcohol were found among 58% of children residing in Russian
orphanages (Miller et al, 2006); many children adopted
from this region of the world also have these findings.
Physical evidence suggesting prenatal exposure to alcohol
may be found in children adopted from other countries
as well. Many children arrive with deficient immunization records; the guidelines of the American Council on
Immunization Practices address the management of these
children. Newly arrived international adoptees benefit
from detailed evaluation shortly after placement to identify potential health and development problems and to
direct needed interventions (Table 13-5).
Growth delays are common in children who have lived
in institutional care or other difficult circumstances in
early life (Table 13-6). Growth measurements below the
5th percentile are found for height (approximately 45%),
weight (35%), and head circumference (33%) of newly
arrived international adoptees (Miller, 2005). Children
with early deprivation also frequently have developmental delays. Motor delays are obvious because opportunities for physical exploration and play are limited. Delayed
cognitive and language skills also reflect lack of nurturing care in early life. Social-emotional and self-care skills
sometimes are preserved in some international adoptees
because many orphanages encourage these abilities.
138
B
Figure 13-1. A, A child in a Russian orphanage, shortly before adoption, age 4.5 years. B, The same child after adoption, age 5.5 years.
School Problems
Numerous studies show that school problems, such as
attention-deficit/hyperactivity disorder and learning disabilities, are more common in adopted children, likely
reflecting genetic susceptibility, adverse prenatal exposures, and early environmental deprivation. A metaanalysis of the cognitive development of 17,767 adopted
children found, however, that they scored higher on IQ
tests and did better on school performance than children
who remained in institutional care or with birth families. The adopted childrens IQs did not differ from their
nonadopted siblings and peers, although they had more
learning problems, and delayed school performance and
language ability (van Ijzendoorn et al, 2005). School
problems may be overrepresented among internationally adopted children. A survey of children adopted
from Eastern Europe found attention problems in 38%,
learning disabilities in 36%, and multiple neurodevelopmental diagnoses in 35% (Tirella et al, 2006); parent demand for educational testing and remediation is
likely higher in these families, possibly inflating the rates
of these problems. Children adopted internationally by
Dutch and Scandinavian families of higher socioeconomic backgrounds had more school-related problems
than children adopted by parents of lower socioeconomic
status, possibly because of unrealistic expectations and
pressure from the higher socioeconomic families.
139
140
Emotional Problems
Children entering foster care have a high level of serious
mental health problems80% compared with 16% to
22% among children living with their parents (Kerker
and Dore, 2006). Externalizing disorders (attention
disorders, conduct disorders, delinquency, aggressive
and self-injurious behavior) are most common, but depression and anxiety also occur. In one survey, 15% of
children were suicidal, and 7% had homicidal ideation
(Chernoff et al, 1994). The trauma of separation from
the family undoubtedly contributes to the prevalence
of mental health problems: It is difficult to differentiate
mental health problems that precede foster placement
from problems that result from placement.
Many children in foster care receive psychotropic
medications. Most experts agree, however, that foster
care children are probably undertreated and undermedicated for their mental health problems (Kerker and Dore,
2006; Simms et al, 2000). There are numerous barriers to
care of children with these issues, including cost, unstable
placements, and missing mental health histories.
Overall, the complex medical needs of children in
foster care are frequently neglected, usually because of
difficulties accessing health services. Care is often fragmented, as children move between placements, and
141
142
Table 13-9. Child and Family Services Review National Data Indicators
Range
Median
86-98
93.3
44.3-92.5
1.1-13.7
17.7-68.9
69.9
6.5
39.4
1.6-29.8
15
6.4-74.9
16.2-55.7
26.8
32.4
20-100
45.8
55-99.6
27-99.8
13.7-98.9
83.3
59.9
33.9
Timeliness of Adoptions
Children Discharged from Foster Care to Finalized Adoption
Discharged in <24 mo (%)
Median length of stay in foster care (mo)
Children Legally Free for Adoption
Discharged to finalized adoption in <12 mo (%)
Stability of Placements
Children with 2 Placements
In foster care <12 mo (%)
In foster care 12-24 mo (%)
In foster care >24 mo (%)
(Adapted from U.S. Department of Health and Human Services, Administration for Family and Children. Childrens Bureau, Child and Family Services Reviews,
Summary of Key Findings, Fiscal Years 2003 and 2004. September 23, 2004. Available at: www.acf.hhs.gov/programs/cb/cwmonitoring/results/keyfindings2003.pdf.
Accessed September 19, 2008.
SUMMARY
Children in the United States who cannot be cared for by
their parents are placed in adoptive or foster families (or
both). In other countries, children needing care often are
consigned to orphanages. Many of these children have
difficult experiences in early life, including neglect and
abuse, health problems, and developmental delays. These
traumatic experiences may increase the risk of behavioral and mental health disorders. Many children display
remarkable resilience, however. Notable trends include
increases in the number of international adoptions,
adoptions by gay or lesbian or single parents, and transracial adoptions. Efforts to improve health monitoring
and rapid resolution of legal quandaries of children in
foster care need to expand; facilitation of adoption processes would benefit children in need of care. Medical
practitioners can assist foster and adoptive families and
the children in these placements by offering comprehensive, focused health care, anticipatory guidance related
to potential problems, and emotional support.
REFERENCES
Adamec C, Miller LC: Encyclopedia of Adoption. New York, Facts
on File, Inc, 2006.
American Academy of Pediatrics Committee on Early Childhood and
Adoption and Dependent Care: Developmental issues for young
children in foster care. Pediatrics 106:1145-1150, 2000.
Astley SJ, Stachowiak J, Clarren SK, Clausen C: Application of the
fetal alcohol syndrome facial photographic screening tool in a
foster care populations. J Pediatr 141:712-717, 2002.
Carpenter SC, Clyman RB, Davidson AJ, Steiner JF: The association
of foster care or kinship care with adolescent sexual behavior and
first pregnancy. Pediatrics 108:e46, 2001.
Chamberlain P, Price JM, Reid JB, et al: Who disrupts from placement
in foster and kinship care? Child Abuse Negl 30:409-424, 2006.
Chernoff R, Combs-Orme T, Risley-Curtiss C: Assessing the health status of children entering foster care. Pediatrics 93:594-601, 1994.
Chugani HT, Behen ME, Muzik O, et al: Local brain functional activity
following early deprivation: A study of postinstitutionalized
Romanian orphans. Neuroimage 14:1290-1301, 2001.
143
14
Vignette
The only constant is change
Heraclitus
Four-year-old Rebecca could not wait for her baby brother to arrive. She had helped her parents
decorate the nursery, and she chose three of her favorite books and one stuffed animal to welcome
him home. She became confused and frightened after he was born and had to stay in the hospital.
Her parents would spend all day there, and although she loved being with her grandma and grandpa,
they would sometimes whisper to each other after her parents called from the hospital. She began
having trouble falling asleep, and she lost her appetite. Her brother was born with pulmonary
hypertension and needed intensive treatment, including extracorporeal membrane oxygenation. It
took quite a few days before her parents were able to explain what was happening, and it took quite
a bit longer for Rebecca to get back on track after this episode.
Families are dynamic units that seek, absorb, and manage changes, such as additions and losses, to continue to
nurture the individual members. Families function via the
development of equilibrium or homeostasis. Any change
destabilizes that balance. A delay in the establishment
of a new balance point signals the need for thoughtful
and careful intervention, starting with an assessment of
the familys strengths and weaknesses. Some changes are
normative (sometimes referred to as on-time), such as
the birth of a child or the death of elderly, infirm grandparents. These changes can be anticipated, and appropriate preparations can be undertaken. Other changes,
such as acute illness, disabling injury, or the death of a
sibling or the early death of a parent or grandparent,
can cause major disruption. Nevertheless, we should
never take for granted that a normative change will
go smoothly, or that a non-normative one will have
devastating, long-lasting consequences. The particular
structure and function of a given family, including its
supportive social network and the personal resources of
the individual members, is the best predictor of ultimate
outcome.
The scope of these issues has been described in depth
by Shonkoff and colleagues (1987). This discussion focuses on the addition of and the loss of a family member
(Table 14-1). The addition of new family members most
often occurs with the birth of a sibling, but includes the
arrival emotionally or physically of parental partners
or spouses (step-parents), grandparents, or other family members who join the household for economic or
health reasons. The most significant loss a child experiences, that of a parent through separation and divorce,
144
Externalizing Symptoms
Aggression
Anger
Defiance/noncompliance
Losses
Developmental Arrest/Regression
Self-care
Feeding
Toileting
145
Self-Medication
Alcohol
Prescription drugs
Illicit drugs
146
FAMILY
AND
SOCIAL
147
148
FAMILY
AND
SOCIAL
149
LOSSES
Deaths in the Family
Death is inevitable. The loss we experience because of
a death is modulated by the concept of timeliness.
The death of elderly grandparents occurs on-time.
The death of a young mother of breast cancer at age 34,
2 years after the birth of her child, clearly occurs offtime and has enormous repercussions for the family. In
the same manner, the death of a brother or sister represents significant challenges to the child and family (see
Chapter 37). The primary modulator for any childs experience is his or her conception of death, which relates,
in typically developing children, to their age.
Children younger than 2 years of age do not have
the ability to understand death cognitively. They experience the same feelings they do when an individual leaves
for any reason. In the case of a parent, specifically, one
who is involved in caregiving activities (as is typical
in our society for mothers), the child experiences the
loss as abandonment or desertion. It is almost impossible for the child to distinguish between temporary and
permanent absences.
Between 2 and 6 years of age, death is equated
with absence and is perceived as reversible. Sometimes
death is understood as a faded continuation of life. The
child does not understand that the dead family member
cannot come back. Some children seem to understand
that death is final as they watch their pet goldfish get
flushed away. The same child, however, despite attending the funeral, may expect grandma to come home
from the cemetery when she is tired or hungry. This is
a time that children are engaged in magical thinking:
Children may believe that their anger at their parent
caused the parents death, and thus they are being punished for bad thoughts or deeds. Death may be pictured as a person, such as a scary clown, or shadowy,
threatening figure.
Between 6 and 11 years of age, children develop a
sense of the fact that death is final and irreversible: Their
parent, grandparent, or brother or sister will not be returning. Childrens concrete reasoning (cause-and-effect
thinking) serve them in making sense of what happened,
especially in the face of a fatal illness.
Children 10 to 11 years old come to understand the
inevitability of death for every living thing, including
themselves. Childrens abstract reasoning (described by
Piaget as formal operations) allows them to see and
imagine circumstances they have not yet experienced.
Although the latter can be a source of great satisfaction
150
FAMILY
AND
SOCIAL
SUMMARY
Changes in the family structure represent nodal points
that can have a significant impact on a child. Most of
these events, such as the birth of a sibling or the death of
a parent or grandparent, are likely to have predictable
consequences, allowing the physician to anticipate the
typical reactions and offer timely guidance. Nevertheless, the particular structure of a given family and its
available resources become a better predictor of whether
the parents (and consequently the child) will be able to
navigate these rocky shoals. An understanding of the
family life cycle, the developmental stage of the child,
the familys emotional and economic resources, and the
symptoms of childhood problems guides the physician
in assessing which families are coping, and which may
need monitoring and intervention. As in other areas of
developmental-behavioral pediatrics, the identification
of child and family counseling services facilitates timely
referral when needed.
REFERENCES
American Academy of Pediatrics Committee on Psychosocial Aspects
of Child and Family Health: The pediatrician and childhood bereavement. Pediatrics 105:445-447, 2000.
American Academy of Pediatrics Committee on Psychosocial Aspects
of Child and Family Health: Coparent or second-parent adoption
by same-sex parents. Pediatrics 109:339-340, 2002.
Bell NS, Amoroso PJ, Wegman DH, Senier L: Proposed explanations
for excess injury among veterans of the Persian Gulf War and a
call for greater attention from policymakers and researchers. Inj
Prev 7:4-9, 2001.
Boyce WT: Coping with stressful transitions. In Parker S, Zuckerman B,
Augustyn M (eds): Developmental and Behavioral Pediatrics: A
Handbook for Primary Care, 2nd ed. Philadelphia, Lippincott
Williams & Wilkins, 2005.
INTERNET RESOURCES
Gay, lesbian, bisexual, and transgender parenting issues. Available at:
http://www.gayparentingpage.com/.
Parental support for children with special health care needs and developmental disabilities: Parent to Parent-USA. Available at: http://
www.p2pusa.org/.
Re-entry: Coming Home Guide. Available at: http://www.cfs.purdue.
edu/mfri/pages/military/FAMILY_and_FRIENDS_1.pdf.
151
SIBLINGS
Leonard J: Twice Blessed: Everything You Need to Know about Having a Second ChildPreparing Yourself, Your Marriage, and
Your Firstborn for a New Family of Four. New York, St Martins
Press, 2000.
Sears M, Sears W, Kelly CW, Adrianni R: Baby on the Way. Boston,
Little, Brown Young Readers, 2001. (This is a picture book for
young children.)
15
PEERS
Vignette
In an elite boarding school, this boy, despite upper class connections, was unpopular. He was not at all
handsome, was mediocre in everything he did, and had few social graces. See what he said at age 68 in
his reunion report:
Most vivid memory: The everlasting teasing and ridicule I received at (high school)! The scars will
remain until I die. Unlike Kipling I have not had revenge by writing Stalky and Co.
My worst experience was: The first 20 years of my life. Psychological counseling allowed me to join
the human race at 28.
Would you follow the same career? If my life at (high school) had been different, I might have
been quite a different person. Would I have been happy? I dont know.
Anonymous
Peer relationships provide a unique and important context for social-emotional development and adjustment,
one that is complementary to parent-child relationships. Because of the relatively egalitarian nature of peer
relations, children learn how to negotiate, compromise,
and cooperate to maintain successful relationships. As
children grow, peers provide opportunities to master
skills such as perspective-taking, conflict management,
loyalty, intimacy, and other social skills. Children also
develop these skills with parents, but in contrast to peer
relations, with parents children are dependents, receiving
discipline, support, and guidance.
Not all peer experiences are equal. It is important to
distinguish the terms peer relationships and friendship.
In lay vernacular, they are often used interchangeably. In
the professional literature, however, the terms are used
to mean two different types of relationships. Peer relationships refers to group relations (i.e., being part of a
collective of children of roughly the same age and gender). Friendships are dyadic, close relationships that are
managed and maintained as a continuing entity. In addition, friendships involve mutual preference and choice
(i.e., reciprocity), and a mutual trust, closeness, and
intimacy not found among all peers. The psychological
consequences for children from friendship include the
consequences for more general peer relationships, such
as identification and acceptance, but also include intimacy, loyalty, support, and the validation of self-worth.
Developmental research has chronicled the increasing importance and the increasing complexity of peer relationships and friendships as children grow (Bierman,
2004). First friendships generally emerge during the
preschool years, evolving as children master shared pretense and cooperative play. In elementary school, children begin to become more involved in larger and more
152
structured peer group interactions, where their friendship skills continue to develop as they learn to negotiate
issues involving competition, conformity, and achievement. During preadolescence, children often form special
chumships with same-sex peers that provide models
for the skills involved in sustaining close emotional relationships, such as intimacy, loyalty, and support. In
adolescence, youth may experiment with different social
roles and experience a range of relationships as a way of
helping them to define the person they want to be. Peer
relationships and friendships during adolescence also
provide support as adolescents move from dependence
on their parents to autonomous functioning as adults.
Along with delineating the developmental progression
and outcomes of healthy peer relationships, research
also describes the outcomes children can have that result
from problems with peers. The remainder of this chapter
discusses dysfunctional peer experiences and offers tools
and suggestions for clinicians to use as part of screening
during patient visits.
Peer Rejection
Childhood peer rejection and its role in the development of psychopathology has received more attention
than any other peer-related topic, in part because of its
prevalenceapproximately 10% to 15% of children are
Chapter 15 Peers
153
Peer Victimization
Peer victimization among children has been the focus
of increased empiric attention over the last 3 decades
(Hawker and Boulton, 2000; Nansel et al, 2001;
Olweus, 1993; Storch et al, 2006). Defined as repeated
exposure to negative actions on the part of one or
more other individuals, 20% to 30% of youngsters are
154
c hronically victimized by peers. Although peer victimization has previously been considered an inevitable
childhood occurrence, parents, school personnel, and
health professionals have recognized the impact of being
victimized on a range of psychosocial adjustment problems. Policy changes within schools have lagged, resulting in few improvements in the situation.
In the early 1990s and before, victimization was
thought to occur primarily through physical or verbal
attacks, such as hitting, pushing, cursing, or threatening.
This research found that boys were victimized more frequently than girls. Such findings contradicted common
knowledge about the peer experiences of girls, however,
and the nature of aggressive behavior among girls and
boys. More recent research has revised this conceptualization to include forms of peer maltreatment such as
shunning, ignoring, and spreading rumors (Crick and
Bigbee, 1998). By broadening the definition of peer
victimization to include gender normative aggressive behaviors, a more balanced picture of peer experiences has
been captured.
Although fewer data have been reported regarding
the prospective relationships between peer victimization
and adjustment, the extant findings further suggest that
victimization is a distress-provoking experience. The
conceptualization underlying these findings involves
cognitive and behavioral components. Victimized children may internalize negative self-evaluations, resulting
in greater distress and avoidance of interactions that
have a high probability for victimization. Through the
process of marginalization and ostracism, victimized
children may have limited opportunities to build positive peer relationships that could provide physical protection and aid in coping with bullying-related distress.
Cross-sectional studies have shown positive correlations
between peer victimization and depressive symptoms,
general anxiety, social anxiety, and externalizing symptoms. Longitudinal studies also have indicated that peer
victimization predicts later symptoms of depression,
social phobia, general anxiety, and internalizing and
externalizing behaviors.
Lack of Friendship
The preceding sections considered peer relationships
more globally from a group perspective; in this section
we talk about friendsclose, dyadic, mutually acknowledged relationships. Depending on the specific criteria
used, approximately 10% to 20% of school-age children do not have a mutual friendship. Children without
friends are not always neglected or rejected children,
however. About 50% of unaccepted children have close
friendships, and about 20% of average accepted children do not (Parker and Asher, 1993). Children with
friends have been found to be more altruistic and to
have better skills in explaining emotions. Early school
adjustment has been found to be associated with having a large number of prior friendships at the time of
entrance, maintaining these friendships, and developing
new ones (Ladd, 1999).
Although friendship serves seemingly beneficial functions, little research is available to suggest how many
friendships are desirable or sufficient, although some
research has shown that the biggest difference in selfesteem is between children with no friends and children with at least one friend. In addition, it may be that
quality is more important than quantity. The quality of
friendships has been found to be related to social dissatisfaction or loneliness above and beyond the sheer
number of friendships (Parker and Asher, 1993). One
implication is that children who experience poor peer
relations may be buffered against many of the associated risks and consequences if they are able to make and
maintain a close friendship.
Chapter 15 Peers
155
HISTORY
Child
Parent
PHYSICAL EXAM
Is there any evidence of:
Unusual, bizarre, stereotypical behavior or behavior that is a little odd (e.g.,
Aspergers syndrome)?
Facial differences or other evidence of something different?
Excessive shyness?
Communication skills, poor eye contact, or lack of social skills?
Aggression and hyperactivity (ADHD)?
CLINICAL IMPRESSION
Suspicion of:
Peer rejection?
Peer neglect?
Social withdrawal and avoidance of peer interaction?
Peer victimization?
Lack of friends?
TRANSITORY CONCERN
Plan
Family will talk with and support the child.
Family will find ways to increase
opportunities for interactions with other
children.
Physician will follow up at next visit.
CLINICAL CONCERN
Plan
Parents will talk with teachers and/or
guidance counselor.
Refer to mental health counselor.
Physician will follow up at next visit.
Figure 15-1. Initial screening for peer difficulties. ADHD, attention-deficit/hyperactivity disorder.
156
Table 15-1. Domains and Types of Red Flags for Peer Difficulties: When Follow-up or
Referrals May Be Indicated
Source
Domain
Child
Context of problem
Clarification of problem
History of problem
Affect
Reasons for the problem
Actions
Parent
Corroboration
Concern
Behavior
Other reports
Parents action plan
SUMMARY
This chapter has presented an overview of the normative
developmental progression and functions of peer relationships in childhood and adolescence. Several aspects
of problematic peer relations have been discussed, including peer rejection, social withdrawal and avoidance
of peer interaction, peer victimization, and lack of a close
friend. Screening guidelines for pediatricians in primary
care settings have been presented. Pediatricians can serve
an important function in identifying children at risk for
or manifesting peer difficulties. Pediatricians can respond
to statements from the child or parent that may indicate
peer problems. More generally, by including questions
about the childs opportunities for peer interactions and
about the quality of the childs friendships and peer relations in routine developmental interviews with parents,
pediatricians can screen for potential problems and simultaneously increase parental awareness about this important aspect of the childs development.
Table 15-2. Sources of Information and Types of Tools Available for Peer Difficulties
Source
Type of
Information
Cons
Tools Available
Parent
report
Teacher
report
Peer
report
Direct
observation
157
Chapter 15 Peers
Pros
Child
self-report
158
REFERENCES
Achenbach TM, Edelbrock CS: Manual for the ASEBA School-Age
Forms and Profiles. Burlington, VT, Research Center for Children,
Youth, and Families; University of Vermont, 2001.
Bierman KL: Peer Rejection: Developmental Processes and Intervention Strategies. New York, Guilford, 2004.
Cillessen AHN, Bukowski WM: Recent Advances in the Measurement
of Acceptance and Rejection in the Peer System. San Francisco,
Jossey-Bass, 2000.
Crick NR, Bigbee MA: Relational and overt forms of peer victimization: A multi-informant approach. J Consult Clin Psychol 66:337347, 1998.
Deater-Deckard K: Annotation: Recent research examining the role of
peer relationships in the development of psychopathology. J Child
Psychol Psychiatry 5:565-579, 2001.
Hawker DS, Boulton MJ: Twenty years research on peer victimization and psychosocial adjustment: A meta-analytic review of crosssectional studies. J Child Psychol Psychiatry 41:441-455, 2000.
Hightower AD, Work WC, Cowen EL, et al: The teacher-child rating
scale: A brief objective measure of elementary childrens school
problem behaviors and competence. School Psychol Rev 15:393409, 1986.
Ladd GW: Peer relationships and social competence during early and
middle childhood. Annu Rev Psychol 50:333-359, 1999.
Malik NM, Furman W: Problems in childrens peer relations: What
can the clinician do? J Child Psychol Psychiatry 34:1303-1326,
1993.
Nansel TR, Overpeck M, Pilla RS, et al: Bullying behaviors among US
youth: Prevalence and association with psychosocial adjustment.
JAMA 285:2094-2100, 2001.
16
CHILDCARE
Daniel Moran
Vignette
At her 4-month checkup, Annies parents brought up the question of whether it was appropriate to
place her in childcare when her mother, Mirabel, returned to work the following month. They had
hoped Annies grandmother would have been able to help care for Annie, but her health is poor. The
family is depending on a second income to help pay the mortgage and other expenses that have
accumulated since Mirabel took maternity leave at 7 months. Mirabel admits she is distressed at the
thought of leaving her child in the care of another, but is resigned to the idea and wants good
advice regarding her options.
5years. These data are collected from the Survey of Income and Program Participation. In the winter of 2002,
the survey data indicated that for families with children
younger than 5 years, approximately 62% had some
form of regular childcare arrangements; 40% used relatives, and 35% used nonrelatives to provide care. Of
families using nonrelatives, almost two thirds of the care
was provided by organized facilities (i.e., daycare centers, preschool, or Head Start programs) (Table 16-1)
(U.S. Census Bureau, 2002).
HISTORICAL PERSPECTIVE
Center-based childcare has its roots in the 19th century.
These early experiences typically involved either children
from socioeconomically disadvantaged families that were
placed in such centers to provide enhanced stimulation
and appropriate child rearing or a second group of
children from wealthy families who sought increased instruction in the early years of life. Neither model gained
wide acceptance, and both eventually faded from popular use until later in the 20th century (Caldwell, 1999).
Because of economic pressures owing to the lack of
men in the labor force during World War II, women
began working in the factories and other businesses, requiring them to seek other forms of childcare. Since that
time, the number of children in nonmaternal childcare
has steadily continued to increase. Between 1950 and
1980, the number of working women 25 to 34 years old
nearly doubled. By 1998, more than 75% of all women
in the same age group were in the workforce (Fullerton,
1999). Data from the U.S. Department of Labor in 2004
indicated that approximately 60% to 70% of women in
the workforce had children 6 years old and younger, necessitating some form of out-of-home childcare or early
childhood program (U.S. Department of Labor Bureau
of Labor Statistics, 2005). The types of programs vary
dramatically in terms of quality, affordability, and
availability.
159
160
FAMILY AND
SOCIAL
Percent in
Arrangement
62.9
40.2
3.5
15.2
2.5
22.7
7.2
34.9
22.7
13.8
37.2
*Reflects
only the time for which the designated parent was either working or
in school.
Note: Numbers of children in each type of arrangement may exceed the total
because of children with multiple arrangements.
From U.S. Census Bureau, Demographics Survey Division: Survey of Income
and Program Participation. 2002. Available at: http://www.sipp.census.gov/sipp.
Study Design
Data from 1-month-old infants and their families were
collected beginning in 1991. This multisite study included four phases, of which the third was concluded in
2004. The study population was diverse and included
healthy children from a variety of backgrounds. Forty
percent of children lived in families defined as poor
or near-poor. Eighty-five percent of the children had
mothers who were married or partnered. Approximately one quarter of the mothers had a high school
degree or equivalent; a third had some college education. Minorities, of which half were black, constituted
approximately one quarter of the children in the study
group.
Childcare was defined in the study as any care provided on a regular basis by someone other than the childs
mother. Children with less than 10 hours a week in nonmaternal childcare were considered to be in exclusive
maternal care. Nonmaternal childcare was defined to
include care from a father or other relative; care from one
caregiver in the childs home; home-based, small-group
childcare; and center-based childcare. The outcome
variables, including cognitive/language development,
social behavior, emotional development/maternal-child
interaction, and health indicators, were correlated to
the quality and quantity of childcare (National Institute
of Child Health and Human Development Early Child
Care Research Network, 2005).
Quality of childcare was evaluated on two levels.
The first was what researchers described as regulable
characteristics (i.e., adult-to-child ratio, training of
caregiver, group size), and the second encompassed
process features based on direct observation of childcare workers positive caregiving behavior. Specifically, researchers observed for the frequency of positive
physical contact, response to vocalizations, amount
of positive communication with the child, encouragement ofdevelopmental progress, and lack of negative
Chapter 16 Childcare
161
162
FAMILY AND
SOCIAL
Infection control
Emergency procedures
Injury prevention
Evaluation Criteria
1:3 with groups 6
1:4 with groups 8
1:5 with groups 10
1:7 with groups 14
1:8 with groups 16
If there are no children <2 yr: 1 adult/6 children; when there is 1 child <2 y: 1 adult/4 children;
and when there are 2 children <2 y (the maximum), no other children are recommended
College degrees in early childhood education
Child development associates credential
Ongoing in-service training
Parents first-hand observations of care
Low turnover rate
Hand washing with soap and running water after diapering, before handling food, and when
contaminated by body fluids
Children wash hands after toileting and before eating
Routinely cleaned facilities, toys, equipment
Up-to-date immunizations of staff and children
Written policies
All staff and children familiar with procedures
Up-to-date parent contact lists
Play equipment safe, including proper shock-absorbing materials under climbing toys
Universal Back-to-Sleep practices
Developmentally appropriate toys and equipment
Toxins out of reach
Safe administration of medicines
Adapted from Committee on Early Childhood, Adoption, and Dependent Care: Quality early education and child care from birth to kindergarten. Pediatrics
115:187-191, 2005.
Chapter 16 Childcare
SUMMARY
Children who experience poor quality care, whether in
a childcare center or within their own home, are more
likely to have significant difficulties with their overall
163
development and performance in school. These early environments and experiences shape brain function, intelligence, and personality, and are critical to an individuals
outcome. High-quality childcare, including responsive
caregivers, enriched environments, and stable patterns
of caregiving, are positively associated with good developmental outcomes. Pediatric providers are a key source
of information and guidance to individual families and
childcare center providers.
REFERENCES
Caldwell BM: Child care. In Levine MD, Carey WB, Crocker AC
(eds): Developmental and Behavioral Pediatrics, 3rd ed. Philadelphia, WB Saunders, 1999, pp 201-208.
Caughy M, DiPietro JA, Strobino DM: Day care participation as a
protective factor in the cognitive development of low income children. Child Dev 65:457-471, 1994.
Committee on Early Childhood, Adoption, and Dependent Care:
Quality early education and child care from birth to kindergarten.
Pediatrics 115:187-191, 2005.
Fullerton HN: Labor force participation: 75 years of change, 1950-98
and 1998-2025. Monthly Labor Review 122:3-5, 1999.
Hayes CD, Palmer JL, Zaslow MJ (eds): Who Cares for Americas
Children? Washington, DC, National Academy Press, 1990.
National Institute of Child Health and Human Development Early
Child Care Research Network: Child care structure process
outcome: Direct and indirect effects of child care quality on young
childrens development. Psychol Sci 13:199-206, 2002.
National Institute of Child Health and Human Development Early
Child Care Research Network: Childcare and Child Development:
Results from the NICHD Study of Early Child Care and Youth
Development. New York, Guilford Press, 2005.
National Association of the Education of Young Children. 2007.
Available at: http://www.naeyc.org/accreditation/.
Peisner-Feinberg E, Burchinal M: Concurrent relations between childcare quality and child outcomes: The study of cost, quality, and
outcomes and child care center. Merritt-Palmer Q 43:451-477,
1997.
Phillips D, McCartney D, Scarr S, et al: Selective review of infant
daycare research: A cause for concern. Zero to Three 7:18-21,
1987.
Roberts JE, Rabinowitch S, Bryant DM, Burchinal MR: Language
skills of children with different preschool experiences. J Speech
Hearing Res 32:773-786, 1989.
Schulman K: The High Cost of Child Care Puts Quality Care Out of
Reach for Many Families. Washington, DC, Childrens Defense
Fund, 2000.
Shonkoff JP, Phillips DA (eds): From Neurons to Neighborhoods:
The Science of Early Childhood Development. Washington, DC,
National Academy Press, 2000.
U.S. Census Bureau, Demographics Survey Division: Survey of Income
and Program Participation. 2002. Available at: http://www.sipp.
census.gov/sipp.
U.S. Department of Labor Bureau of Labor Statistics: Women in the
Labor Force: A Databook. 2005. Available at: http://www.bls.gov/
cps/wlf-databook2005.htm.
17
SCHOOLS AS MILIEU
Paul H. Dworkin
Vignette
D.B. is a 10-year-old boy with a long-standing history of behavioral and learning problems. During the
preschool years, his grandmother described him as never sitting still, being constantly on the move, and
being into everything. She also noted that D.B.s early speech and language development seemed slow.
Since beginning elementary school, D.B. has had difficulty staying on task, completing his school work, and
following the rules of the classroom and school. Results of school-based psychoeducational assessment at
age 6 years included a full scale IQ of 86 (97 verbal; 78 performance) and academic delays in language arts
(writing, spelling) and arithmetic. Components of his school plan have included paraprofessional support
within the classroom and 3 hours per week of educational support in a resource room. He also has received
community-based and school-based counseling. D.B. was begun on methylphenidate at age 6 years for
attention-deficit/hyperactivity disorder.
Within recent years, D.B. has become more aggressive, often touching and hitting other children. His
grandmother is worried that he has difficulty controlling his anger. He also has been reprimanded for
stealing money at home and taking another students calculator. He continues to struggle with writing
and math.
D.B. has been cared for by his grandmother since infancy. D.B.s birth history is noteworthy for maternal
substance abuse, prematurity, respiratory distress, and jaundice. D.B. has mild, intermittent asthma. Despite
her own chronic health problems, D.B.s grandmother also cares for his two older sisters and periodically
serves as a foster parent for children in protective custody. She acknowledges concerns with neighborhood
safety and is fearful of allowing D.B. to play outside.
D.B.s grandmother describes his inner-city school as old, in poor repair, and very crowded. She reports
that teachers do not supervise students adequately, especially during lunch and recess. She is concerned
with D.B.s exposure to the large number of students with behavioral difficulties. She questions the
influence of D.B.s school on his learning and behavioral problems, and wonders whether she should
request a transfer to another school, either within or beyond their school district.
psychosocial factors are often considered in the evaluation of a childs school functioning, characteristics of
the school and classroom generally do not receive much
attention. Characteristics of the specific school that a
child attends seem to have a significant effect on academic achievement and classroom behavior. The school
potentially can assume important roles in the prevention and the early identification of childhood maladjustment and behavioral problems. In the vignette, D.B.s
grandmother is justified in questioning the impact of his
classroom and school on his performance and considering a change in school placement.
This chapter reviews school-related influences on
classroom performance. School-related factors to be discussed include school resources (physical and administrative features) and characteristics of school processes.
The impact of schools on disadvantaged, minority students also is emphasized. The relationships between
school effectiveness and student achievement are vital
considerations, whether the focus in on the performance
of an individual student or on such debated public policies as the merits of student vouchers or the morning
start time for beginning instruction in high schools. Yet
evidence from sound, educational research is sparse. In
the educational setting, teachers and students cannot
be randomly assigned to different teaching methods,
learning environments, and supplemental resources.
Nonetheless, decades of research suggest how characteristics of schools affect learning and may inform clinical
practice and advocacy.
HISTORICAL CONSIDERATIONS
The extent to which the specific school that a child attends influences classroom performance has been the
subject of controversy for at least 5 decades. A survey
done by Coleman and colleagues (1966) of some 645,000
students in 4000 elementary and secondary schools contributed to the belief in the 1960s that schools made
very little difference. In the early 1970s, Jencks and coworkers (1972) reassessed the same data and similarly
concluded that variables such as average expenditure
per pupil, the number of books in the library, and the
teacher-to-pupil ratio account for little of the variation
among students on achievement measures. In contrast,
a series of cross-sectional studies performed in the late
1970s concluded that the school a child attends can have
a major impact on classroom performance, and that the
type of school attended may be particularly consequential for less able students (Brookover et al, 1979; Halsey
et al, 1980; Madaus et al, 1979).
The contradictory conclusions derived from such
studies can be explained by methodologic differences.
The earlier studies that concluded that schools exert
little influence on student performance relied on limited measures of academic attainment, mainly students
verbal abilities. These surveys examined a very narrow
range of school variables, primarily resources such as
the number of books in the library or the number of
pupils per teacher. Finally, such studies evaluated how
improvements in schools would make children more
alikethat is, reduce inequalities in attainment among
165
166
Administrative Arrangements
In the London study, whether schools were voluntaryaided (i.e., church-affiliated) or public (maintained by
the local education authority) did not significantly influence student outcome. Although the greater autonomy
afforded the voluntary-aided schools tended to result
in slightly better outcomes, the considerable overlap in
findings between the two types of schools resulted in differences that did not reach statistical significance. A more
recent example is the establishment of charter schools,
developed by members of the community and open to
all students and receiving tax dollars based on per pupil
enrollment. Such schools typically receive waivers from
many legislative mandates and have greater administrative autonomy than public schools. There is little
evidence to support the benefit of this model of school
organization and management in meeting mandated
educational standards (Miron, 2005).
task inattention, and overcrowding has a negative impact on student achievement in poorer school districts
(Earthman and Lemasters, 1998).
Staff Provision
As previously noted, class size and the pupil-to-teacher
ratio had no significant effect on student outcome within
the London study. The variations among schools in
pupil-to-teacher ratio (14 to 16 pupils to 1 teacher) and
class size (22 to 30 students) were quite small, however.
These results should not be viewed as arguing against
very small classes (when feasible) or allowing large
classes. Findings do suggest, however, that limited financial resources may not be best spent to improve staff
provisions only modestly.
Internal Organization
In the London study, the manner in which children were
grouped for teaching purposes did not influence student
outcome. Whether students were placed in different
tracks according to ability or taught within classes for
children of differing abilities failed to affect school performance. Whether students were grouped in different
grades according to age, or whether children of various ages were housed together also had no influence on
outcomes.
Teachers frequently use ability grouping in the classroom with the belief that it is an effective means of
promoting academic achievement. Although this is particularly common in reading, it also may be used for
other subjects, such as writing, mathematics, and science.
Little large-scale quantitative research has addressed this
issue. Grouping may have different impacts on children
of different abilities. Students of low ability may benefit
from exposure to children with heterogeneous ability
levels, whereas children of average ability may perform
better with children of more homogeneous ability (Saleh
et al, 2005).
SCHOOL PROCESSES
In contrast to the limited impact of the physical and
administrative features of schools, aspects of the social organization of school life, referred to as school
processes, have important associations with school
outcome. Such processes create the context for
teaching and learning, and seem likely to affect the nature of the school experience for both staff and pupils
(Rutter et al, 1979).
Academic Emphasis
Childrens progress academically and behaviorally is favorably influenced by an appropriate emphasis on academic issues. Such an emphasis may be reflected in the
frequent assignment of homework; high teacher expectations for students academic achievement; the display
of childrens work on classroom walls; total teaching
time per week; a high rate of students use of the school
library; and group (as opposed to individual teacher)
planning of courses and lessons, with monitoring and
advice provided by department heads.
Pupil Conditions
As previously discussed, the extent to which schools
provide a pleasant and comfortable environment for
students does seem to influence student outcome. In
the London study, clean and tidy, well-decorated classrooms were associated with better student behavior.
167
Features such as the freedom to use the school buildings during breaks and the lunch period, student access to a telephone, and the availability of hot drinks
were associated with greater success on examinations.
A better behavioral outcome was seen when teachers
expressed a willingness to see children at any time, as
opposed to only at fixed times, about a problem. Similarly, better attendance and academic achievement were
seen in schools in which students expressed a willingness to discuss personal problems with a staff member.
In contrast, the extent of extracurricular activities did
not have an effect on whether schools had good or poor
outcomes.
Staff Organization
A complex interaction of external and internal factors
influences educational curriculum, policies, and procedures. Examples of such external influences include
familial, cultural, economic, political, and religious
168
SUMMARY
The influence of the school environment on student performance is complex and controversial. Characteristics
of the school that a child attends likely have a significant
effect on academic achievement and classroom behavior.
Limited research suggests that school processes, such as
academic emphasis, opportunities for student involvement, and a focus on rewards rather than punishment,
may be of greater importance than such physical and
administrative features as the age of the school building,
REFERENCES
Borman GD, Rachuba LT: The characteristics of schools and classrooms attended by successful minority students. Paper presented
at the Annual Meeting of the American Educational Research Association, New Orleans, April 24-28, 2000.
Brookover W, Beady C, Hood P, et al: School Social Systems and Student Achievement: Schools Can Make a Difference. New York,
Praeger, 1979.
Coleman JS, Campbell EQ, Hobson DJ, et al: Equality of Educational
Opportunity. Washington, DC, U.S. Government Printing Office
(Superintendent of Documents Catalogue No. FS 5.238:38 000),
1966.
Earthman GI, Lemasters L: Where children learn: A discussion of how
a facility affects learning. Paper presented at the Annual Meeting
of the Virginia Educational Facility Planners, Blacksburg, VA,
February 23-24, 1998.
Furtwengler WJ: Implementing strategies for a school effectiveness
program. Paper presented at the Annual Meeting of the American
Association of School Administrators, Dallas, March 8-11, 1985.
Halsey AH, Health AF, Ridge GM: Origins and Destinations: Family,
Class and Education in Modern Britain. Oxford, Clarendon, 1980.
Jencks C, Smith M, Acland H, et al: Inequality: A Reassessment of
the Effect of Family and Schooling in America. New York, Basic
Books, 1972.
Lee YE, Bryk AS, Smith JB: The organization of effective secondary
schools. Rev Res Educ 19:171, 1993.
169
Lemasters LK: A Synthesis of Studies Pertaining to Facilities, Student Achievement, and Student Behavior. Doctoral dissertation.
Blacksburg, VA, Virginia Polytechnic Institute and State University, 1997.
Madaus GF, Kellaghan T, Rakow EA, et al: The sensitivity of measures of school effectiveness. Harvard Educ Rev 49:207, 1979.
McGuffrey CW: Facilities. In Herbert W (ed): Improving Educational
Standards and Productivity. Berkley, CA, McCutchan Publishing
Corp, 1982, pp 237-288.
Miron G: Evaluating the Performance of Charter Schools in Connecticut. Kalamazoo, MI, The Evaluation Center, Western Michigan
University, 2005.
National Commission on Excellence in Education: A Nation at Risk:
The Imperative for Education Reform. Washington, DC, U.S.
Department of Education, 1983.
Phillips M: What makes schools effective? A comparison of the relationships of communitarian climate and academic climate for
mathematics achievement and attendance during middle school.
Am Educ Res J 34:633, 1997.
Rutter M: School influences on childrens behavior and development:
The 1979 Kenneth Blackfan lecture. Childrens Hospital Medical
Center, Boston. Pediatrics 65:208, 1980.
Rutter M: School effects on pupil progress: Research findings and
policy implications. Child Dev 54:1, 1983.
Rutter M, Maughan B, Mortimore P, et al: Fifteen Thousand Hours:
Secondary Schools and Their Effects on Children. Cambridge,
Harvard University Press, 1979.
Saleh M, Lazonder AW, De Jong T: Effects of within-class ability
grouping on social interaction, achievement, and motivation. Instr
Sci Int J Learn Cogn 33:105, 2005.
Weinstein CS: The physical environment of the school: A review of the
research. Rev Educ Res 49:577, 1979.
Weissberg RP, Cowen EL, Lotyczewski BS, et al: The Primary Mental
health Project: Seven consecutive years of program outcome research. J Consult Clin Psychol 51:100, 1983.
18
NEIGHBORHOOD
AND COMMUNITY
Lynne C. Huffman and Paul H. Wise
171
172
Disparities in Mortality
The starkest manifestation of the impact of poverty on
child health lies in its capacity to shape disparities in sur
vival. From birth, poor children are at higher risk for
death than are nonpoor children, although the dimensions
of this disparity and the implications for clinical interven
tion vary considerably by age and cause of death.
173
Disparities in Morbidity
174
Lead Poisoning
Lead poisoning causes a variety of significant health,
developmental, and educational problems and is highly
associated with poverty. The mean blood lead level of
children and the percentage of children having a blood
lead level of 10 mg/dL or higher increased as the per
centage of the population that was black or Hispanic
rose and as poverty increased. Increased crowding, older
age of housing, and screening rate also were associated
with higher blood lead levels. In contrast, higher blood
lead levels were inversely associated with level of educa
tion, income, and home ownership (Lanphear et al,
1998). About 9 percent of children aged 1 through
5 years and enrolled in Medicaid had blood lead levels at
10 mg/dL or greater, compared with about 3 percent
of the non-Medicaid population. There is also evidence
that rates of elevated lead levels during pregnancy are
higher in poor women. Heightened exposure in old,
deteriorating housing, surrounding soils, and contami
nated air is closely associated with poverty. Beyond
broad measures, such as the elimination of lead from
gasoline, the principal approach to combating lead
poisoning is screening children for elevated lead levels.
175
176
Community-Based Services
Outreachbridging the gap between apparent availability
and actual use of services
Home visiting
Developmental and behavioral services
Strategic Activities
Community advocacy
Formulation of public policy
General Services
Economic and employment assistance
Minimum wage
Education and job training
177
Community-Based Services
Community-based programs provide a crucial range of
services and represent an important resource for clini
cians caring for poor children. Such services are often
targeted to children who have a specific set of condi
tions, whereas others attempt to enhance access to a
broad range of medical and social services through
intensive home visiting, follow-up care, and social
supports.
Outreach
Outreach bridges the gap between the apparent avail
ability of a service and actual use by a family in need.
Parents may have a poor understanding of some of the
program benefits and services available to their children.
178
Strategic Activities
Although clinical intervention remains of critical impor
tance to children living in poverty, the complex spectrum
of risk associated with poverty cannot be addressed en
tirely by clinical practice alone. Clinicians may possess a
special capacity to speak to the need for communitybased programs and help legitimize advocacy calls for
improved local services. Social networks, both formal
and informal, can be important sources of support to
poor families in need and can be strengthened by local
professionals. This might include the collaboration of
179
Overabundance of Possessions
Most children in wealthy families are surrounded by an
abundance of possessions. This may be part of a general
expression of wealth in a consumer-based society, or
parents may buy expensive gifts to assuage a sense of
guilt for not spending enough time with their children.
Regardless, these children may have little experience
with having to delay gratification or with the frustration
that comes from having to do without a coveted object.
This may compound the harmful effects of growing up
with little contact with children from a diversity of back
grounds and social classes. Furthermore, such children
may develop unrealistic expectations of the extent to
which one need not adapt to life but can make the world
adapt to ones whims. The expectation that familial re
sources will pave the way for them in life and eliminate
the need for personal accomplishment may so character
ize children of certain affluent families. Easy access to
automobiles, drugs, and alcohol may be implicated in
high rates of automobile-related injuries and substance
abuse among some wealthy adolescents.
180
SUMMARY
For children, the neighborhood is the relatively small en
vironmental range and inherent relationships of home,
school, and community that, together, determine the fab
ric of daily life. The neighborhood appears to influence
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181
19
183
Figure 19-1. The differing developmental niches of children. A, In the Netherlands, a sister and brother do artwork together at their own table
in the family room. B, In Kipsigis, Kenya, two older siblings play with baby sister, pulling her in cooking pot like a sleigh. The older children are
resposible for their little sister while the mother is busy nearby.
184
185
186
187
188
189
Table 19-1. Five Steps to the Development of Culturally Sensitive Attitudes, Assessment, and Intervention
1.Acquaint yourself with the childs developmental niche, including daily routines, caretaking practices, and the cultural beliefs that give
these meaning for the parents.
2.Explore with parents their expectations for the childs behavior and development; their own role in protecting, managing, and nurturing
the child; and the roles of other significant persons (e.g., extended family, health care providers).
3.Use standard assessments (e.g., motor, language, cognitive, social, temperament, and attachment measures) to inform your understanding
of the parents presentation of problems in the childs behavior and development.
4. Be aware that standard developmental assessment tools reflect the cultural biases of the population for which they were developed.
5. Use your knowledge of the parents beliefs, practices, and goals in formulating advice for handling behavioral-developmental issues.
190
SUMMARY
A culturally sensitive attitude in diagnosis and interven-
tion is an essential tool in modern clinical pediatrics.
Childrens development is shaped in part by the settings
of their daily lives, the customs of care used at home, and
the psychology of the caretakers. These three aspects of
the developmental niche are in turn regulated by larger
aspects of the culture in which the children and parents
live. The pediatrician must turn an ethnographers eye
not only toward the patient but also toward his or her
own personal beliefs and to those of the medical sys-
tem itself. To hear the meaning of behaviors underlying
parents descriptions, to see the development underlying
possibly biased standardized assessments, and to inter-
vene in ways that will be accepted and effective, these are
the challenges in creating a developmental-behavioral
pediatrics that allows the rich varieties of normal
human behavior and development.
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Gottlieb A: The Afterlife Is Where We Come From. Chicago, Univer-
sity of Chicago Press, 2004.
Greenfield PM, Cocking RR: Cross-Cultural Roots of Minority Child
Development. Hillsdale, NJ, Erlbaum, 1994.
Harkness S, Super CM (eds): Parents Cultural Belief Systems: Their
Origins, Expressions, and Consequences. New York, Guilford,
1996.
191
20
MEDIA
Victor C. Strasburger
True, media violence is not likely to turn an otherwise fine child into a violent criminal. But,
just as every cigarette one smokes increases a little bit the likelihood of a lung tumor someday,
every violent show one watches increases just a little bit the likelihood of behaving more aggressively in some situation.
Psychologists Brad J. Bushman and L. Rowell Huesmann (Handbook of Children and the Media,
2001, p 248)
Parents could once easily mold their young childrens upbringing by speaking and reading to
children only about those things they wished their children to be exposed to, but todays parents
must battle with thousands of competing images and ideas over which they have little direct
control.
Professor Joshua Meyrowitz (No Sense of Place, 1985, p 238)
Chapter 20 Media
193
Listening to music
Using computers
Watching TV
3:17
3:16
3 hours
2:36
2:24c
2 hours
1:42b
1:22c
1:05a
1 hour
1:02b
0:59a
0:52a
0:37a
0:33b
0 hours
810
1114 1518
810
1114 1518
810
1114 1518
810
1114 1518
Note: Results in any one cluster with a different superscript differ significantly.
Watching TV
3:31a
Reading
Using computers
3 hours
2:04b
2 hours
1:30a
1 hour
0:54b
0:38a
0:47b
0:47a
0:15b
0 hours
TV in
bedroom
No TV in
bedroom
TV in
bedroom
No TV in
bedroom
Figure 20-1. A, Even during adolescence, television remains the predominant medium for teenagers. B, The presence of a TV set in a childs or
teens bedroom increases all media use significantly and decreases reading. (From Rideout V, Roberts DF, Foehr UG: Generation M: Media in the
lives of 8-18 year-olds. Menlo Park, CA, Kaiser Family Foundation, 2005.)
Media Multitasking
Percentage of 8- to 18-year-olds who say they use another medium
(TV, computers, print, or music) most of the time while...
Listening to music
Using computers
Reading
Watching TV
0%
20%
40%
60%
194
40
30
40%
32%
20
22%
10
6%
A lot
Somewhat
Only a little
Not at all
50%
40
30
28%
20
10
6%
A lot
Somewhat
In 1999, the American Academy of Pediatrics Committee on Public Education issued a recommendation that
children younger than 2 years not be allowed to watch
television (American Academy of Pediatrics, 1999).
A firestorm ensued. Since then, many studies have documented the potentially negative impact of media on
early brain development. The human brain is unique in
being relatively immature at birth, but that allows it to
develop in response to the environment in which it will
function. Research shows that infants have a critical
need for direct interaction with parents and other caregivers for healthy brain development and that viewing
adults on television or in videos is not nearly as effective. Although educational videos for infants are now
a $100 million business, there is no evidence that they
are effective, and there is one study that has actually
found language delays in some infants exposed to them
(Zimmerman et al, 2007). Similarly, the adolescent
brain is a work in progress, and new studies show
that it is not fully mature until the age of 25 years or so.
Therefore, media content that is particularly relevant
to teenagerssex, drugs, and eating disorders, for examplemay be very influential in their health-related
decisions.
POSITIVE EFFECTS
16%
Only a little
Not at all
Figure 20-3. Teenagers (and adults) fervently believe that the media
affect everyone else but themselves, the so-called third-person effect.
(From Kaiser Family Foundation: Teens say sex on TV influences
behavior of peers [press release]. May 20, 2002.)
Chapter 20 Media
NEGATIVE EFFECTS
Whereas media can be prosocial, sadly in the United States
they tend not to be. American media are among the most
violent, sexually suggestive, and commercialized in the
world. The average young person will view an estimated
40,000 advertisements, 20,000 acts of violence, 15,000
sexual references, and 2000 beer and wine ads annually
on television alone. From a scientific standpoint, it is difficult to imagine how 6 hours a day of media immersion
does not result in some behavioral consequences, at least
in some children. However, the research is difficult to do.
Where, for example, does one find a population that has
not been exposed to television? In a UNESCO survey of
22 countries, 91% of the worlds population of children
were found to have access to a TV set. Media research is
difficult social science research so that any reported findings are probably highly significant. Unfortunately for
pediatricians and developmental-behavioral specialists,
most of the research resides in the communications and
psychology journals and is not easy to digest; but there is
a uniformity of findings in a variety of different subject
areas that is difficult to deny.
Media Violence
As early as 1952, the U.S. Senate held hearings on whether
media violence was affecting young people. More than
50 years later, after more than 3500 studiesof which
fewer than 30 showed no effectthe controversy should
be over; yet somehow it continues. The research is very
clear on the following effects (Anderson et al, 2003;
Hogan, 2005; Strasburger, Wilson, and Jordan, 2009):
195
0.39
0.4
0.31
0.3
0.2
0.14
0.1
0.09
0.10
Exposure to
asbestos and
laryngeal cancer
Homework
and
achievement
0.11
Calcium
intake and
bone mass
Nicotine
patch and
smoking
cessation
Media
violence
and
aggression
Smoking
and
lung cancer
Figure 20-4. A comparison of the media violence correlation with other social risks that have been studied scientifically. (From Strasburger VC,
Wilson BJ: Children, Adolescents, and the Media. Thousand Oaks, CA, Sage, 2002.)
196
Suicide
Several studies have demonstrated a link between media coverage of suicide, television movies about suicide,
and subsequent increases in teen suicide. Even wellintentioned programs can cause an increase, and this
contagion effect seems to be stronger in adolescents than
in adults. The Centers for Disease Control and Prevention have issued guidelines for media reporting about
suicide that encourage TV stations and newspapers not
to glorify the person or to sensationalize the event.
Advertising
Children and adolescents see 40,000 ads per year on
television alone. Increasingly, younger and younger children are being targeted, primarily because advertising
is a $250 billion a year industry in the United States
(American Academy of Pediatrics, 2006); yet a series of
Federal Trade Commission (FTC) hearings in the late
1970s concluded that it is unfair and deceptive to advertise to children younger than 6 years. Several European
nations either ban all advertising directed at children or
severely restrict it, yet in the United States, it remains
business as usual.
The impact is considerable. Tobacco manufacturers
spend $30 million a day on advertising and promotion.
Two large and unique longitudinal studies have found
that approximately one third of all teen smoking can
be attributed to tobacco advertising and promotion
(Borzekowski and Strasburger, 2007). Alcohol manufacturers spend nearly $6 billion a year on advertising, and
research shows that exposure to ads is a significant risk
factor for teen drinking (Borzekowski and Strasburger,
2007). Prescription drug advertising is also problematic
because it gives young people the mistaken impression
that there is a drug to cure every problem. In particular,
the makers of drugs for erectile dysfunction have come
Sex
In modern American culture, sex is used to sell everything from shampoo to cars to beer and wine; yet when
teenagers respond to the apparent cues that everyone
is having sex but them, they are instructed to just say
no and taught abstinence-only sex education. To date,
abstinence-only sex education has been proved ineffective, even by multiple government studies (Trenholm etal,
2007); yet the Federal government continues to spend
more than $170 million a year supporting abstinenceonly sex education. In addition to the lack of evidence
that it works, abstinence-only programs are competing
within a media culture that is anything but abstinenceonly. Sex on prime-time television is ubiquitous, and
rarely are the risks or consequences displayed (Fig. 20-5).
Music Television (MTV) rarely shows music videos anymore. Instead, MTV is filled with reality shows like
Next, The Real World, Flavor of Love, and Parental
Control that give teens inappropriate scripts about
the opposite sex, dating, and human sexuality. The Internet is also a prime source of inappropriate sexual material for young people. Studies show that the majority
of children and teens have accessed pornography online,
whether inadvertently or intentionally (Fig. 20-6).
American media are unique in their reluctance to
advertise birth control products and emergency contraception (Brown and Strasburger, 2007), yet erectile
dysfunction drugs are advertised constantly, even during programming that children and teens may view
(American Academy of Pediatrics, 2006). At least eight
national, peer-reviewed studies have documented that
giving teens access to birth control does not increase their
sexual activity or decrease their age at first intercourse
(Brown and Strasburger, 2007). The media represent an
important access point for teens for information about
contraception (and sexuality in general, for that matter).
For example, the top-10 programs ER and Friends have
featured story lines about emergency contraception and
about condoms, respectively.
Does all of this suggestive and casual sexuality have
an impact on behavior? Increasingly, the answer seems
to be yes. There are now three longitudinal correlational
studies (i.e., giving causal effect) that have found that
children and teens exposed to more sexual content on
television or in other media have a doubled risk of beginning early sexual intercourse (Brown and Strasburger,
2007). Although rock music normally does not have
much behavioral impact, one study has found an association between listening to degrading music lyrics and
Chapter 20 Media
197
68%
64%
60
61%
56%
54%
40
32%
1998
2002
2005
35%
23%
20
14%
7%
Any sexual
content
Sexual
behaviors
11%
Sexual
intercourse
25
15%
14%
9%
11%
13%
1998
2002
2005
12%
11%
10%
N/A
Among all shows
with sex
Among prime-time
broadcast shows with sex
Figure 20-5. The latest in a series of content analyses of sex on prime-time television finds that the number of scenes with sexual content has
nearly doubled from 1998 to 2005 to 70% (A). At the same time, less than 15% of shows with sexual content include references to the risks and
responsibilities of having sex (B). (From Kunkel D, Eyal K, Finnerty K, et al: Sex on TV 4. Menlo Park, CA, Kaiser Family Foundation, 2005.)
Drugs
Analogous to the abstinence-only trend in American society, the Just Say No message of the 1980s is alive and
well, too. Drug Abuse Resistance Education (DARE) is
used by 80% of school districts nationwide, despite the
fact that several studies have shown it to be ineffective.
On the other hand, programs like Life Skills Training
do work, remarkably well, but are more expensive and
time-consuming than DARE. As with sex, the media
are decidedly not anti-drug. Instead, movies and television programming are full of drug use; and more than
$20 billion a year is spent on advertising tobacco, alcohol, and prescription drugs. Many beer ads use sexy
Very often
Somewhat
often
9%
30%
Never
14%
47%
Not too often
Figure 20-6. The percentage of 15- to 17-year-olds who have accidentally stumbled across pornography online. (From Rideout V:
Generation Rx.com: How young people use the Internet for health
information. Menlo Park, CA, Kaiser Family Foundation, 2001.)
198
80%
75% 74%
73%
66%
59%
60%
40%
20%
14%
9%
0%
6%
2%
1%
2%
0%
Illicit drugs
Tobacco
Alcohol
Nonalcoholic
beverages
Percentages based on 59 characters under 18 years old, 160 characters ages 1839,
51 characters 40 years or older.
Tobacco
Alcohol
100%
97%
79%
80%
94%
92%
82%
76%
60%
40%
18%
20%
0%
20%
17%
18%
14%
0%
G or PG
PG-13
Figure 20-7. Drug content on television (A) and in the movies (B). Alcohol and tobacco remain the two most important drugs portrayed in
mainstream media, and a G or PG rating is not protective. (From Christenson PG, Henriksen L, Roberts DF: Substance use in popular prime-time
television. Washington, DC, Office of National Drug Control Policy, 2000; and Roberts DF, Henriksen L, Christenson PG: Substance use in
popular movies and music. Washington, DC, Office of National Drug Control Policy, 2000.)
Chapter 20 Media
199
CONTROVERSIES
Television viewing has been associated with attentional
problems in both children (Christakis et al, 2004) and
adolescents (Johnson et al, 2007). Several studies have
also found a relationship between television viewing
and poorer academic performance (Borzekowski and
Robinson, 2005), although the viewing of educational
television programs by younger children is thought to
be beneficial (Wartella and Robb, 2007). One study has
actually found an association between early television
viewing and autism (Waldman et al, 2006). Prolonged
computer use and viewing violent programs have both
been associated with increased social isolation. All of
the controversies will require more substantial research
in the future.
SOLUTIONS
Anyone concerned with child and adolescent development must learn to appreciate the impact of the media
on young people. Two simple questions could elicit
Changing the media is an altogether different proposition. Hollywood is loath to accept any outside interference, yet the entertainment community must recognize
the public health implications of what they produce.
More dialogue with public health organizations would
be beneficial. The Federal government is equally loath to
deal with media issues. For example, despite finding in
the late 1970s that advertising to children younger than
6 years is inherently deceptive, the FTC refused to do anything about it because of marketplace forces (American
Academy of Pediatrics, 2006). The Federal Communications Act of 1934 allows Congress to regulate what is
broadcast over the public airwaves, but both cable and
the Internet are impervious to regulation. A number of
possibilities exist that would improve the current state
of programming for children and teens:
200
SUMMARY
The media are a powerful influence on the development of
young people. To underestimate their influence is to miss
an important opportunity to help raise healthy infants,
children, and teenagers. According to the research, the
media can play a major role in influencing aggressive behavior, early sexual activity, alcohol use, cigarette smoking, obesity, and unhealthy body self-image. In addition,
the medias connection to eating disorders, attentional
disorders, academic achievement, and autism is currently
being actively investigated. Young peoples exposure to
media needs to be controlled by parents, and the media
themselves need to be made healthier for young people.
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Anderson C, Berkowitz L, Donnerstein E, et al: The influence of media
violence on youth. Psychological Sci Public Interest 4:81-110, 2003.
Becker AE, Burwell RA, Gilman SE, et al: Eating behaviours and attitudes following prolonged exposure to television among ethnic
Fijian adolescent girls. Br J Psychiatry 180:509-514, 2002.
Borzekowski DLG, and Robinson TN: The remote, the mouse, and
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achievement among third grade students. Arch Pediatr Adolesc
Med 159:607-613, 2005.
Borzekowski DLG, Strasburger VC: Tobacco, alcohol, and drug exposure. In Calvert S, Wilson BJ (eds): Handbook of Children and the
Media. Boston, Blackwell, 2007.
Brown JD, Strasburger VC: From Calvin Klein to Paris Hilton and
MySpace: Adolescents, sex, and the media. Adolesc Med State Art
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Christakis DA, Zimmerman FJ, DiGiuseppe DL, McCarty CA: Early
television exposure and subsequent attentional problems in children. Pediatrics 113:708-713, 2004.
Collins RL, Ellickson PL, McCaffrey D, Hambarsoomians K: Early
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Field AE, Cheung L, Wolf AM, et al: Exposure to the mass media and
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Gantz W, Schwartz N, Angelini JR, Rideout V: Food for thought:
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Hogan MJ: Adolescents and media violence: Six crucial issues for
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and Character Education. Mahwah, NJ, Lawrence Erlbaum, 2007.
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Huesmann LR, Moise-Titus J, Podolski C, et al: Longitudinal relations between childrens exposure to TV violence and their aggressive and violent behavior in young adulthood: 1977-1992. Dev
Psychology 39:201-221, 2003.
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aggressive behavior during adolescence and adulthood. Science
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Johnson JG, Cohen P, Kasen S, Brook JS: Extensive television viewing
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Jordan AB: Heavy television viewing and childhood obesity. J Children Media 1:45-54, 2007.
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21
DISASTERS, WAR,
AND TERRORISM
Joseph F. Hagan, Jr.
DISASTERS DEFINED
Natural disasters as well as the disasters of war and
terrorism are traumatic events beyond normal human
experience. They result in extreme physical and psychological harm (Saylor, 1993; Work Group on Disasters,
American Academy of Pediatrics, 1995). Psychological
experiences of children have been found to show great
variance, and an American Academy of Pediatrics report
noted that psychological response was influenced by both
risk and protective factors (Hagan, 2005). The nature
of the disaster, the level of exposure, and the extent to
which a child and those around the child are personally
affected are important factors. The childs individual
temperament plays a vital role in determining reaction
style and capacity for resiliency (see Chapter 7). Age and
stage of development, prior experience, and preexisting
emotional stressors as well as parental experience and
response contribute to outcomes positive or negative.
Recognition of this complex interactivity of protection
and risk is key to understanding and assessing childrens
plight.
202
CHILDRENS RESPONSES
Figure 21-1. New York City, September 11, 2001: The World Trade
Center North Tower after the crash of American Airlines Flight 11.
(Copyright Larry Radar. http://larry.911photos.com.)
Stages of Response
Childrens responses to disaster, terrorist acts, or war
will vary over time. Immediately after the traumatic
event, fright predominates with concomitant feelings
of denial, disbelief, grief for loss, or relief if loved ones
have not been harmed.
A few days to weeks after the traumatic event,
manifestations of emotional distress predominate.
Developmental regression is common in children, and
common symptoms include externalizing behaviors
such as hostility, irritability, and aggressive behaviors
toward others and internalizing symptoms represented
by depressed mood, apathy, pessimism, withdrawal,
sleep disturbances, and somatization. Such signs are
common, are part of the normal recovery process for
children, and can be expected to last for a few weeks.
Childrens play and games demonstrating themes of
the traumatic event are common and represent adaptive attempts at mastery. When marked distress or
behavioral disorganization is noted, especially in children who experienced major loss, early referral for mental health services is indicated.
Children with adverse reactions lasting longer than
1 month are at increased risk for development of
PTSD or violent and delinquent behaviors later in life
(Beauchesne et al, 2002; Monson, 2002). Referral for
mental health services is imperative.
203
Syndromic Responses
A childs age and stage of development determine response to the trauma experienced. Developmental stage
determines a childs interpretation of events as well as
the childs response to them. Interventions to assist children must be developmentally appropriate if they are to
successfully alleviate distress.
The responses of younger children are marked by
changes in mood, anxiety level, and internalized behavioral symptoms. They are unable to understand the event
and will have difficulty distinguishing a deliberate action
from an unintentional incident. They will be concerned
with the consequences to themselves and their immediate family or community. The more sophisticated older
children show greater comprehension of the traumatic
event and of its intent and implications. They too will
experience anxiety and depression. Their reactions may
be complicated by anger, fear, or despair, and older children are further influenced by prior personal experience
and vulnerabilities.
Whereas many children will meet DSM-IV diagnostic criteria for these disorders, far more children will be
partially affected. The Diagnostic and Statistical Manual
for Primary Care (DSM-PC) Child and Adolescent Version (Wolraich, 1996) is an important resource for understanding the symptoms of the child with behavioral
and emotional health problems of significant morbidity but that do not meet the level of symptoms required
for the adult diagnosis of disorder. Support and services
must be available on the basis of symptomatic morbidity
and not restricted by diagnosis.
MANAGEMENTACUTE
Preparedness
Management of the needs of families and children after
disaster, terrorist act, or act of war begins with community preparedness. Emergency services in the United
States are highly developed with an emphasis on rescue,
triage, and attention to acute medical crises. We are less
prepared for chemical events or biologic attack (Committee on Environment Health and Committee on Infectious Diseases, American Academy of Pediatrics, 2000),
and there is a notable lack of hospital beds available to
meet surge demands.
Availability of child-specific treatments is extremely
limited in the majority of jurisdictions, including childspecific emergency response teams, child-appropriate
doses or delivery systems for emergency medications,
child-friendly decontamination tools and techniques,
emergency department resources, pediatric intensive care
beds, and pediatric ward beds (Markenson and Reynolds,
2006). Preparedness also demands pre-event consideration of how the emotional needs of affected children will
be addressed. The American Academy of Pediatrics Task
Force on Terrorism studied these needs after the September 11 attacks, consulted with governmental agencies,
and offered recommendations (Table 21-1). The American Academy of Pediatrics continues to study the unique
preparedness needs of American children (American
Academy of Pediatrics, 2007).
Evacuation
Evacuation may occur before an anticipated event or in
response to a sudden or unexpected event. All communities should have a plan for evacuation before a crisis. Evacuation plans will vary in their complexity and
specificity on the basis of factors such as relative risk,
the nature of perceived risk, population size, geography,
204
Children need care from providers trained to meet their unique needs.
Because children respond differently from adults in a medical crisis, it is critical that all health care workers be able to recognize the unique
signs and symptoms in children that may indicate a life-threatening situation and to respond accordingly.
Shelter in Place
In certain circumstances, evacuation might be impossible, as in New Orleans after the rupture of the levee, or
dangerous, for example, in chemical or biologic attack.
In these situations, evacuation places the evacuee, the
first responder, and perhaps the accepting community
at risk, and shelter must be created at the place of the
event. Community leaders should include these contingencies in their disaster plan.
Shelter in place requires food, water, shelter, delivery of emergency medical services, and, if prolonged,
provisions to address mental health needs. Egress out
might be restricted, but access in for responders must be
Figure 21-2. Flooded New Orleans city school buses serve as a powerful example of failed opportunities to evacuate residents from the
aftermath of Hurricane Katrina. (http://www.mackinac.org/media/
images/2006/mer2006-03p1a.jpg.)
Reunification
Children will be separated from parents and caregivers
in disasters. This reality must be reflected in community
disaster planning if the plan is to actually work. Anna
Freuds classic study of British children evacuated without their parents during the 1940 Blitz on London defined the importance of keeping families together. She
found that London children were on the whole
MANAGEMENTCHRONIC
205
Screening
Screening for adverse reactions to disaster or terrorism is the broader action of investigating all children or
adults in a community or other group who were affected
by the event. Surveillance relies on knowledge and sensitivity to detect troubled victims. Screening assumes
that many psychological symptoms will be private, hidden, or subtle. Screening uses some form of assessment
tool, ideally one previously validated for detection of
certain symptoms in similar circumstances or populations (Council on Children with Disabilities, American
Academy of Pediatrics, 2006).
Screening for PTSD symptoms in Thai children after the 2004 tsunami detected prevalence rates of 13%
for children living in refugee camps and 11% for children from affected villages. These rates were significant
compared with the 6% prevalence in children from
unaffected villages, yet this rate would hardly suggest
that these children were unaffected (Thienkrua et al,
2006). School-based screening in New York City found
high rates of disorders of mood and anxiety-related
diagnoses.
Screening for the psychological sequelae to traumatic
events is as essential as assessment for food and shelter
needs. It is an important component of community
preparedness and response. Screening needs of children
are similar to those of adults, but child-specific screening
techniques and tools are to be employed.
Surveillance
The primary health care system in the United States
has become a de facto mental health system (Heldring,
2004). Surveillance for developmental or behavioral
problems is a core activity of every health encounter
between professional and child. Professionals providing
health and mental health care services to child survivors
206
ESTABLISHING HOPE
As communities recover from a disaster, recovery incl
udes return to a safe living environment, restoration of
essential services, and gradual return to normal work
pursuits for parents and school or play for children.
If recovery is to be complete, the community and its
people must restore hope. If they are to feel safe and
free from fear, they must have hope for the future, belief
in the communitys ability to regrow, and trust that the
likelihood of repeated disaster is low.
The alternative is to live in fear.
Communities are perhaps less safe after natural
disaster or terrorist acts. The world, as perceived by
American children, is perhaps less safe since 2001; but
we are, for the most part, safe. Children must be afforded
that sense of safety; they must be allowed hope. Do we
succeed in giving this comfort?
Under threat of invasion during the Second World
War, British children and their parents were exhorted
in public information posters to keep calm and
carry on, a clear message of purpose and conviction.
President Franklin Roosevelt told families suffering the
Great Depression: First of all, let me assert my firm
belief that the only thing we have to fear is fear itself
nameless, unreasoning, unjustified terror which paralyzes needed efforts to convert retreat into advance
(Roosevelt, 1933). Children depend on trusted adults
to feel safe or protected so that they might anticipate a
less stress-laden future. Children living in unsafe communities or those who are victims of prejudice or racism require this trust in adults so that they too can be
safe. Are contemporary parents and community and
governmental leaders meeting this need? Are we teaching our children to live with fear, or are we, as a culture, living in fear?
Effective public communication about terrorism or
disaster risk is essential, and it is important that planners
or those governmental officials charged with keeping us
safe be aware of the psychology of terrorism. Does the
American public policy of a war on terrorism protect
us or scare us, or both? Do terror alerts protect or
terrorize? Does the attempt to communicate risk help
or hurt the people warned? Risk communication must
reduce anxiety if it is to minimize the risk of panic. Increasing anxiety, or terror, is the goal of the terrorist.
Effective risk communication has the following characteristics (Heldring, 2004):
ADVOCACY
The American Academy of Pediatrics (2007) has endorsed a number of steps to community preparedness
that address the unique needs of children. Pediatricians and other health service providers for children
are encouraged to serve as resources for families and
advocates for community disaster-preparedness plans
appropriate to the unique needs of pediatric patients.
Pre-disaster planning might include the following
(Hagan, 2005):
SUMMARY
Children and adolescents who are victims of disaster or
experience the horrific trauma of war or terrorism will
have predictable responses, and their caring community
must address their unique needs. Comprehensive community preparedness includes provisions for children
and others unable to care for themselves. Provisions
must also be in place and resources exist to provide for
the expected impact on the mental health of affected
youth.
REFERENCES
American Academy of Pediatrics: Children & Disasters. Available at:
www.aap.org/terrorism. Accessed May 20, 2007.
Beauchesne MA, Kelley BR, Patsdaughter CA, Pikard J: Attack on
America: Childrens reactions and parents responses. J Pediatr
Health Care 16:213-221, 2002.
Calderoni ME, Alderman EM, Silver EJ, Bauman LJ: The mental
health impact of 9/11 on inner-city high school students twenty
miles north of ground zero. J Adolesc Health 39:57-65, 2006.
Coles R: Anna Freud: The Dream of Psychoanalysis. Reading, MA,
Addison-Wesley, 1992, p 189.
Committee on Environment Health and Committee on Infectious
Diseases, American Academy of Pediatrics: Chemical-biological
terrorism and its impact on children: A subject review. Pediatrics
105:662-670, 2000.
Council on Children with Disabilities, Section on Developmental
Behavioral Pediatrics, Bright Futures Steering Committee and
Medical Home Initiatives for Children with Special Health Needs
Project Advisory Committee, American Academy of Pediatrics:
Identifying infants and children with developmental disorders in
the medical home: An algorithm for developmental surveillance
and screening. Pediatrics 118:405-420, 2006.
Gaffney DA: The aftermath of disaster: Children in crisis. J Clin
Psychology 62:1001-1016, 2006.
Galea S, Ahern J, Resnick H, et al: Psychological sequelae of the
September 11 terrorist attacks in New York City. N Engl J Med
346:982-987, 2002.
Hagan JF, and The Committee on Psychosocial Aspects of Child
and Family Health, and the Task Force on Terrorism, American
Academy of Pediatrics: Psychosocial implications of disaster or terrorism on children: A guide for the pediatrician. Pediatrics 116:
1-9, 2005.
Heldring M: Talking to the public about terrorism: promoting health
and resilience. Families Systems Health 22(1):67-71, 2004.
Laraque D, Boscarino JA, Battista A, et al: Reactions in need of tri-state
area pediatricians after the events of September 11: Implications
for childrens mental health services. Pediatrics 113:1357-1366,
2004.
207
Markenson D, Reynolds S, Committee on Pediatric Emergency Medicine and Task Force on Terrorism, American Academy of Pediatrics: The pediatrician disaster preparedness. Pediatrics 117:
e340-e362, 2006.
Monson RB: Children in terror. J Pediatr Nurs 17:62-63, 2002.
Pine DS, Cohen JA: Trauma in children and adolescents: Risk and
treatment of psychiatric sequelae. Biol Psychiatry 51:519-531,
2002.
Pine DS, Costello J, Masten A: Trauma, proximity and developmental
psychopathology: The effects of war and terrorism on children.
Neuropsychopharmacology 30:1781-1792, 2005.
Roosevelt FD: First Inaugural Address, 1933.
Saylor CF: Introduction: Children and Disasters: Clinical and Research Issues. In Saylor CF (ed): Children of Disasters. New York,
Plenum, 1993, pp 1-10.
Thienkrua W, Cardozo BL, Chakkraband ML, et al, for the Thailand
Post-Tsunami Mental Health Study Group: Symptoms of
posttraumatic stress disorder and depression among children in
tsunami-affected areas in southern Thailand. JAMA 296:549-559,
2006.
Weisler RH, Barbee JG, Townsend MH: Mental health and recovery
in the golf coast after hurricanes Katrina and Rita. JAMA 296:
585-588, 2006.
Wexler ID, Branski D, Kerem E: War and children. JAMA 296:
579-581, 2006.
Wolraich ML (ed): American Academy of Pediatrics. The Classification
of Child and Adolescent Mental Health Diagnoses in Primary
Care: The Diagnostic and Statistical Manual for Primary Care
(DSM-PC) Child and Adolescent Version. Elk Grove Village, IL,
American Academy of Pediatrics, 1996.
Work Group on Disasters, American Academy of Pediatrics: Psychosocial Issues for Children and Families in Disasters: A Guide
for the Primary Care Physician. Washington, DC, U.S. Department of Health and Human Services, 1995. Publication No.
(SMA) 95-3022.
Part III
BIOLOGICAL INFLUENCES
22 BIOMEDICAL BASIS
OF DEVELOPMENT
AND BEHAVIOR
Ellen Roy Elias
EMBRYOLOGY
The progression from a fertilized egg into a complex
human with multiple organs and chemical substances
(such as hormones, lipids, proteins, and ions) with billions of interconnecting cells, each containing intracellular organelles surrounded by complex cell membranes,
is a miracle to contemplate. The physical changes occurring during the multiple stages in fetal life have long
been understood by direct study of embryos. More recent studies have led to a clarification of many of these
processes, with the understanding that some steps occur with greater complexity than what was originally
thought. For example, closure of the neural tube is no
longer thought to occur by a simple two-zipper process;
rather, there are at least five zippers, each of which is
mediated by different genes and affected by different teratogens (Van Allen et al, 1993).
The explosion of information that has emerged from
the field of molecular biology has led to an immense body
of knowledge about the role of developmental genes in
human development. There are currently hundreds of
genes that have been discovered whose normal activity
BRAIN IMAGING
In addition to advances that have been made in embryology and developmental and molecular biology, the
field of medical radiology has also seen an explosion in
new techniques that allow sophisticated imaging of CNS
anatomy. Computed tomography, especially with use of
dye to visualize the vasculature, and magnetic resonance
imaging are powerful tools that can indicate even subtle
dysgenetic changes in brain structure. Computed tomographic angiography can visualize changes in blood
flow to the brain caused by both congenital vascular
anomalies and events such as stroke and thrombus.
Magnetic resonance imaging can detect major structural
209
210
211
212
SUMMARY
REFERENCES
23
NERVOUS SYSTEM
DISORDERS
Kelly Knupp and Julie Parsons
SEIZURES
A seizure is a discrete event characterized by a change
in neurologic function associated with an electrical discharge arising from neurons in the brain. Because the
brain controls many functions, the clinical presentation
will vary from a sudden feeling of nausea, to brief confusion, to generalized shaking associated with a loss of
consciousness. Typically, a change in electrical function
can be detected by electroencephalography (EEG), but
not always. The electrical change can either be too deep
within the brain or involve too small a portion of the
cortex to be detected by EEG electrodes placed on the
scalp.
Rarely is a seizure witnessed during a patients visit.
Most seizures are less than 5 minutes in duration and
are frequently less than 1 minute in duration. The
common feature of an event that is likely to be a seizure
is a stereotyped recurrent episode. When this pattern
is recognized, the possibility of a seizure must be considered, although this pattern is often present in other
phenomena, such as syncope, headache, and cardiac
arrhythmia. Therefore, ancillary testing, such as EEG
and magnetic resonance imaging (MRI), can be of great
benefit.
There are several types of seizures (Table 23-1);
knowledge of these types will allow the practitioner to
obtain a better description from families when a history
is taken. The most common classification system is the
International League Against Epilepsy system dividing
seizures into partial seizures, arising from one part of
the brain, and generalized seizures, involving the entire
brain at one time. Defining of seizure type is very useful
214
Focal Seizures
Simple partial seizures
Complex partial seizures
every patient will fit nicely into a category. The classification of epilepsy relies on the seizure types that are
present. The initial division is into focal onset and generalized onset. A third category that is not clearly focal or
generalized recognizes that epileptiform discharges may
cause encephalopathy. These categories are determined
in most cases by the presenting seizure type. Another
way to view pediatric epilepsy is by age. A childs brain
changes over time, and the presentation of an epilepsy
syndrome can and does evolve with this change. Different syndromes are more prevalent within different age
groups.
Benign childhood epilepsy is a classic epilepsy syndrome characterized by focal seizures, typically occurring at night, described as focal facial twitching that
spreads and evolves into a generalized tonic-clonic
seizure. These patients have a characteristic EEG
pattern with bilateral independent temporal central
spikes. The majority of patients outgrow this epilepsy
syndrome as they enter adolescence. Although it was
previously thought to be benign, more recent studies
have shown that some of these children have mild learning and language difficulties related to the frequency
of epileptiform discharges during sleep (Nikolai et al,
2007). Symptomatic focal epilepsies are thought to
be caused be a focal area of abnormality in the brain,
such as a malformation or an injury like stroke or
inflammation.
Classic examples of idiopathic generalized epilepsies
are benign myoclonic epilepsy in infancy, which tends
to resolve quickly; and childhood absence epilepsy,
which is characterized by frequent staring episodes,
at times associated with eye fluttering, lip smacking,
or hand automatisms. These seizures are usually brief
(5 to 15 seconds) but can occur several times a day
(many patients have up to 100 in a day). Owing to the
frequency of absence seizures, some children present
with difficulty in school because of frequent electrical
disruptions. In the teenage years, juvenile myoclonic
epilepsy is an emerging epilepsy syndrome. Children
with this syndrome have a combination of frequent
Landau-Kleffner syndrome is another epileptic syndrome that presents in childhood and causes developmental problems. These children have infrequent
seizures, but they have a loss of language characterized
by verbal auditory agnosia and loss or reduction of
spontaneous speech. EEG frequently demonstrates continuous epileptiform discharges (spike waves) during
sleep. Treatment has been attempted with intravenous
immune globulin, steroids, and high-dose diazepam
with mixed results. There can be milder forms associated with varying degrees of learning difficulties.
215
Treatment
Treatment can be divided into two categories, acute and
preventive. If a child is actively seizing, treatment is generally started 5 minutes into the seizure. The first line of
treatment is a benzodiazepine. This is often followed by
a loading dose of a parenteral medication, traditionally
phenobarbital, phenytoin, or fosphenytoin. With the
addition of new parenteral medications, these recommendations are likely to change. Formulations of benzodiazepines are available for home use, such as Diastat, a
rectal administration system for diazepam. There is also
literature on the intranasal and buccal use of midazolam
as well as buccal lorazepam. These formulations allow
families to abort a seizure in the home setting, avoiding
a trip to the emergency department.
Preventive treatment is not appropriate for every
child who presents with a seizure. Standard practice is
to wait until a patient fulfills the definition of epilepsy
(two or more seizures) before starting treatment with anticonvulsants. Several new anticonvulsants have become
available during the last 2 decades (Table 23-2). There
has been great debate about choice of anticonvulsants
for specific syndromes, and good-quality studies for each
syndrome are not available for many of the medications.
Regardless of the anticonvulsant chosen, as long as the
medication is well chosen for the particular type of seizure or epilepsy, the response rate to an initial drug is
around 50%; the response rate to a second medication
is an additional 15%. The response rate then decreases
to about 5% for each additional medication alone and
in combination (Kwan and Brodie, 2000). If medications are not effective, there are several alternatives: the
ketogenic diet and derivatives, vagus nerve stimulator,
and epilepsy surgery.
The ketogenic diet is a diet high in fat and low in
protein and carbohydrate. This changes the metabolism
of the brain from use of carbohydrates as a source of energy to use of ketones as an energy source. This is a very
rigid diet requiring meticulous attention to all food and
liquid intake, and consultation with a knowledgeable
dietitian is often required. Some variations of this diet
are currently being used that are better tolerated, includ
ing the Atkins diet and the low glycemic index diet.
The vagus nerve stimulator is a device that is implanted
in the left upper chest wall with a wire that extends to
and wraps around the vagus nerve. An electrical impulse
is delivered at regular intervals to the vagus nerve.
An emergency mode can be activated by a magnet swiped
over the device to abort a seizure. Response rates have
been reported at around 45% of children, with a more
than 50% reduction in seizures and 10% with seizure
freedom (Alexopoulos et al, 2006).
216
Dosing
Seizure Type
Routine Monitoring
Carbamazepine
Ethosuximide
Felbamate
Gabapentin
Lamotrigine
Focal seizures
Absence seizures
Broad spectrum
Focal seizures
Broad spectrum;
may not work
for myoclonus
CBC, electrolytes
CBC
CBC
LFTs
4-12 g/mL
40-100 g/mL
30-100 g/mL
4-20 g/mL
5-20 g/mL
Levetiracetam
Methsuximide
Oxcarbazepine
Phenobarbital
Phenytoin
Pregabalin
Primidone
Tiagabine
Topiramate
Valproic acid
Vigabatrin
10-30 mg/kg/day
15-40 mg/kg/day
45-100 mg/kg/day
30-100 mg/kg/day
1-15 mg/kg/day
(varies on the basis
of additional
antiepileptic drugs)
40-100 mg/kg/day
20 mg/kg/day
15-45 mg/kg/day
2-6 mg/kg/day
4-8 mg/kg/day
2-6 mg/kg/day
5-20 mg/kg/day
0.25-1.25 mg/kg/day
5-25 mg/kg/day
20-60 mg/kg/day
40-100 mg/kg/day
CBC
Electrolytes
CBC
CBC, LFTs
5-50 g/mL
20-40 g/mL
10-55 g/mL
15-40 g/mL
10-20 g/mL
Zonisamide
4-10 mg/kg/day
Broad spectrum
Broad spectrum
Focal seizures
Broad spectrum
Focal seizures
Focal seizures
Broad spectrum
Focal seizures
Broad spectrum
Broad spectrum
Focal seizures, infantile
spasms
Broad spectrum
CBC
Electrolytes
CBC, LFTs
LFTs, visual fields,
MRI
Electrolytes
4-12 g/mL
5-70 g/mL
3-25 g/mL
50-120 g/mL
10-30 g/mL
CBC, complete blood count; LFTs, liver function tests; MRI, magnetic resonance imaging.
HEAD TRAUMA
Head injury is unfortunately still a common cause of
injury and death in the pediatric population. In many
cases, these injuries are preventable by use of helmets
when bicycling, skateboarding, and skiing as well as
with the use of appropriate restraints when riding in
cars. In addition, proper sports equipment when playing
contact sports can prevent some of these injuries.
Another cause of head injury in the pediatric population is nonaccidental trauma. An estimated 37,000 children are hospitalized for traumatic brain injury a year,
with 435,000 emergency department visits annually
(Langlois, Rutland-Brown, and Thomas, 2004).
The Glasgow Coma Scale has been used in the emergency situation to rapidly evaluate the severity of injury
STROKE
Stroke, although rare, happens in children as well as
in adults. Stroke in the pediatric population is commonly divided into neonatal and childhood stroke. This
structure is useful in thinking about etiology, in evaluation, and for ongoing research in this population. Neonatal stroke is more common, occurring in 1 in 4000
live births annually (Nelson and Lynch, 2004), whereas
childhood stroke occurs in about 2 to 8 in 100,000 per
year in North America (Giroud, Lemesle, and Gouyon,
1995; Kittner and Adams, 1996).
Neonatal strokes are further divided into prenatal,
perinatal, and postnatal. Prenatal strokes are typically
noted around 4 to 8 months postnatally with focal deficit on examination. Perinatal strokes clinically present
with seizures in the first week of life due to acute injury
to the cortex. Postnatal strokes present with sudden focal findings that correlate with the area of injury.
Childhood strokes can occur at any time. These are
manifested with acute focal deficits that correlate with
the area of injury. With strokes involving larger areas
of the brain, consciousness may be impaired. The use of
MRI has led to more ready identification during the past
decade. Transient ischemic attack, defined as focal neurologic deficit lasting less than 24 hours, can also have
findings on MRI, making some question whether this is
still a useful clinical distinction.
The etiology of stroke in children is different from
that of adult stroke, and there is also a difference in etiology between neonatal stroke and childhood stroke. In
some cases, the cause may be obvious, such as congenital heart disease, sickle cell disease, and trauma. Patent
foramen ovale is a risk factor in both adult and pediatric stroke patients. Other risk factors are vasculopathy,
infection (e.g., varicella), and prothrombotic disorders.
Abnormalities leading to a prothrombotic state include
antiphospholipid antibodies, protein C deficiency, elevated homocystinemia, protein S deficiency, and factor
V Leiden deficiency. In neonatal stroke, some antibodymediated deficiencies can be transmitted vertically,
transiently increasing the risk for stroke in the neonatal
period. Moyamoya syndrome is bilateral stenosis of the
internal carotid arteries causing extensive collateral circulation to occur. This produces a characteristic appearance on cerebral angiography.
As in adults, once a stroke has been identified, it is
important to try to identify the cause to prevent recurrence, which is increased (up to 66%) in patients with
vascular abnormalities (Fullerton et al, 2007). Evaluation should include imaging with MRI to confirm the
diagnosis of stroke. If the cause of the stroke is not
217
HEADACHES
Headaches are a common pediatric complaint and can
be associated with a variety of symptoms indicating the
underlying illness. The differential diagnosis of a headache is vast. One must first think of headache as a symptom, not as a diagnosis. The actual number of young
patients with headache is difficult to determine because
children may not be able to fully articulate their symptoms, but by the age of 7 years, 37% to 50% of children have had a headache (Sillanp, 1983; Sillanp,
Piekkala, and Kero, 1991).
Headaches are classified according to the International
Headache Society classification system (Table 23-3).
The most common divisions are migraine with and without aura and tension-type headache. Children have also
been described to have cluster headaches, although this
is less common. The headache criteria were developed
primarily for the adult population, and some caveats
must be considered when these same criteria are used
for children. Migraine in children is generally shorter in
duration and is more likely to be bitemporal than lateralized pain. There are also variants, such as brief vertigo
and cyclic vomiting, that need to be considered. These
are listed in the classification system. Headaches due to
overuse of medications must also be considered.
Because the differential diagnosis of a headache can
be vast, consideration of the chronology of a headache is
useful in restricting possible causes. An acute headache
is more likely to be due to infection, acute hypertension,
trauma, embolism, hemorrhage, or shunt malfunction.
Acute recurrent headaches are more likely to represent
migraine or tension-type headaches.
Headaches that are chronically progressive are most
often organic in nature. These headaches are more
likely to represent tumors, infection, or increased intracranial pressure from either altered CSF flow or pseudotumor cerebri. Pseudotumor cerebri is an elevation
in CSF pressure without obstruction in flow. It can be
secondary to numerous causes, including antibiotic
use, steroid use, obesity, hypervitaminosis, and sinus thrombosis. An ophthalmoscopic examination to
evaluate for papilledema can assist in this diagnosis.
218
BRAIN MALFORMATIONS
Most brain malformations can be explained by evolving
anatomy of fetal brain. About 3% of neonates have major central nervous system or systemic malformations.
The causes are variable, including environmental
(infection, toxic) and genetic. About 60% of all central nervous system malformations are still of unknown
cause (Aicardi, 1992). With improved neuroimaging
such as MRI, earlier diagnoses of brain malformations
are possible, and a more precise prognosis can be made
in many cases.
Holoprosencephaly is a severe defect that refers to
incomplete division of the forebrain (Fig. 23-1) A single
219
disability
or learning
impairment, are noted.
Lissencephaly, meaning smooth brain, is caused
by failure of neuronal migration (Fig. 23-3). In its most
severe form, a complete absence of sulcation is present.
Usually only four of the usual six layers of the cortex are
present. Imaging studies reveal a thickened cortex with
a paucity of sulci. Enlarged lateral ventricles are noted.
A small number of these cases result from a deletion
of the distal portion of the short arm of chromosome
17, which is termed Miller-Dieker syndrome. In this
syndrome, marked hypotonia, profound psychomotor
retardation, feeding difficulties, microcephaly, and intractable seizures are characteristic.
Less severe forms of cortical migration disorders include pachygyria (decreased numbers of broad gyri and
shallow sulci) and polymicrogyria (excess gyri that are
too small, too crowded, and too numerous). In these
cases, the general organization of the cortex may be
normal with focal areas of abnormality noted. Clinical
findings are variable with developmental issues ranging
from learning disabilities to intellectual
disabilities
. A
variety of bilateral or unilateral motor deficits and tone
abnormalities ranging from spasticity to hypotonia with
hyperreflexia may be seen.
Agenesis of the corpus callosum can be partial or complete. In isolated agenesis of the corpus callosum with
no other associated brain malformations, neurologic abnormalities can include seizures, mild to moderate
intellectual disability
, and visual and motor incoordination.
Agenesis or partial agenesis of the corpus callosum is
seen in a wide variety of chromosomal, metabolic, and
central nervous system malformation syndromes. Neurologic findings and developmental disabilities are understandably diverse in these cases.
NEUROMUSCULAR DISORDERS
Children with neuromuscular disorders may present
with pure motor delays or more global delays, including cognitive impairment. Abnormalities causing disease
may be localized to anterior horn cells in the spinal
cord, peripheral nerves, or muscle fibers. Patients typically present with weakness and loss of or failure to gain
motor skills. Previously, diagnostic evaluations required
muscle biopsy, electromyography, or nerve conduction
studies in addition to clinical history and examination.
Currently, in many cases, molecular or genetic studies
now confirm suspected diagnoses.
220
walkers or cannot keep up with their peers. On examination, they may have pseudohypertrophy of the calves
and forearms and proximal weakness in the shoulders
and particularly in the hip girdle. Most boys demonstrate a Gower maneuver (push off the floor, lock the
knees, then use the hands to climb up the legs) as they
get up from the floor and have difficulty running. Early
in the course, reflexes are preserved, but as weakness of
muscle groups progresses, only ankle reflexes are preserved. The majority of boys lose the ability to walk and
are seated in a wheelchair by the age of 10 to 13 years.
Death usually occurs in the late teens or early 20s from
cardiac or respiratory dysfunction.
Medical complications of muscular dystrophy are respiratory infections and progressive respiratory failure
due to weakness of the intercostal and skeletal muscles.
Use of corticosteroids provides temporary improvement.
Boys develop a dilated cardiomyopathy by the age of
10 years (Nigro et al, 1990), and early intervention is
recommended. Carrier mothers have an estimated 10%
to 15% incidence of cardiomyopathy and need to be
observed as well. Progressive scoliosis typically develops
in the teenage years in boys who are nonambulatory.
Spinal fusion improves comfort in seating as well as
pulmonary capacity. Two thirds of the boys have learning disabilities, attentional disorders, or cognitive delay.
Around 2% are autistic. Early academic intervention
and individual education plans are encouraged. Use of
stimulant medication for attentional issues is not contraindicated in Duchenne dystrophy and can be quite
helpful. Many boys will experience some depression,
particularly in high school. Counseling and judicious use
of antidepressants, such as selective serotonin reuptake
inhibitors, typically will help the boys and their families
through this period.
The diagnosis of Duchenne or Becker dystrophy at
present is confirmed by laboratory studies. Creatine
kinase elevation of more than 100 to 1000 times normal is noted in Duchenne dystrophy. There are very few
other disorders except rhabdomyolysis that will give this
marked elevation. Deletions in the dystrophin gene are
present in 80% of the boys. Sequencing studies are also
available to confirm a diagnosis. In most cases, muscle
biopsy is no longer required.
Myotonic Dystrophy
Myotonic dystrophy, an autosomal dominantly inherited disease, is one of the more common muscle disorders. The incidence is 1/8000. A triplicate repeat of
trinucleotides cytosine, guanine, and tyrosine (CTG)
found on chromosome 19 causes myotonic dystrophy
type 1. Affected patients have repeats numbering in the
hundreds to thousands. In general, the increased size of
the expansion correlates with earlier onset of symptoms
and a more severe phenotype. Creatine kinase concentration may be normal to threefold increased.
Facial weakness and distal muscle weakness develop
over time, but the hallmark of the disease is percussion,
grip, or eyelid myotonia. Myotonia is an inability to
relax contracted muscle. Grip myotonia is commonly
elicited with a handshake and observing a very slow relaxation of the fingers. Myotonia is not demonstrated in
Charcot-Marie-Tooth Disease
Hereditary sensory motor neuropathy or Charcot-MarieTooth disease is the most common peripheral neurop
athy in children. The frequency is 1/2500. There are
multiple inheritance patterns in this disorder. CharcotMarie-Tooth disease type 1A is the most commonform
and is a dominantly inherited disorder, usually due to a
duplication of material on chromosome 17.
Clinical symptoms are progressive distal weakness
and atrophy of the intrinsic muscles of the foot as well
as peroneal muscles. Footdrop, steppage gait, and toe
walking result. Intrinsic hand muscles may also be involved. Fine tremor is not an unusual feature. Reflexes
are lost, and sensory findings such as loss of vibration, temperature sensation, and proprioception are
typical. Physical examination findings also include pes
INFECTIOUS DISEASES
Central nervous system infections are a common cause
of hospitalizations and neurodevelopmental sequelae
in children. Immunizations, improvements in perinatal
care, and treatment of immunosuppressive disease have
had a significant impact on reducing morbidity.
Multiple viruses are disease producing but can be difficult to isolate. Enteroviruses and arboviruses are common. Immunization status, prior travel, season of the
year, and age of the patient all help determine which
virus may be implicated in encephalitis. For instance,
West Nile virus encephalitis would be a diagnostic consideration in the summer when mosquitoes are prevalent
as the vector for transmission of this virus.
The skin, mucous membranes, lymphoid tissue, and
nervous system are key components of the physical examination. Fever, headache, malaise, nuchal rigidity,
nausea, decreased appetite, and rash may be noted on
presentation. Altered mental status, including irritability, encephalopathy, and even coma, can be a presenting symptom of encephalitis. Patients may be aphasic
or present with seizures. Focal neurologic findings may
also be present. Symptoms may be very mild or lifethreatening.
Laboratory studies typically show a leukocytosis with
elevation in lymphocytes. An opening pressure obtained
during the spinal tap will usually be elevated. CSF typically has a normal glucose concentration, a protein level
that is normal to moderately elevated, and an increased
white blood cell count (5 to 1000 cells per high-power
field). Bacterial cultures and Gram stain should be performed in addition to cell counts, and specimens for
polymerase chain reaction (PCR) analysis for enterovirus
and herpes simplex virus (HSV) should be sent. Sending
of serum, urine, nasal, and rectal swabs for viral studies
will improve the diagnostic yield for specific viruses.
HSV infection is a treatable cause of encephalitis but
may be indistinguishable from other viral encephalitides.
CSF cultures for HSV have a sensitivity of less than 10%.
HSV PCR of the CSF has been shown to have 98% sensitivity and 94% specificity (Aurelius, 1991; Lakeman
and Whitley, 1995) and is currently the laboratory test
of choice to confirm the diagnosis. Classically, HSV encephalitis is associated with hemorrhagic inflammation
of the temporal lobes and is frequently bilateral.
Neonatal herpes infection is associated with considerable morbidity and mortality. Infants with seizures at
the onset of therapy had greater mortality and were at
higher risk for abnormal neurologic development. Early
diagnosis and treatment have a positive effect on morbidity and mortality. Longer treatment (21 days) and
higher doses of acyclovir (60 mg/kg/day) have improved
outcomes. According to a study by Kimberlin and associates (Kimberlin, Lin, and Jacobs, 2001a, 2001b),
however, there has not been much progress made in decreasing the time between diagnosis of neonatal herpes
and initiation of treatment.
221
Bacterial Meningitis
Bacterial meningitis is an inflammation of the membranes that surround the brain and spinal cord. About
10% of patients with bacterial meningitis die (Arditi
etal, 1998), and 40% have neurologic sequelae including hearing impairment (Grimwood et al, 1995).
The etiology of bacterial meningitis is affected by
the age of the patient. Group B streptococci and gramnegative enteric organisms are most common in neonates. Intrapartum antibiotic prophylactic treatment
implemented by the Centers for Disease Control and
Prevention in 2002 decreased the incidence of neonatal group B streptococcal disease by about two thirds
(Schrag et al, 2002).
In infants and younger children, Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b (Hib) are the most common causes. In
areas of developed countries where Hib conjugate vaccines are widely used, the incidence of H. influenzae
meningitis has markedly decreased (Martin et al, 2004).
The highest risk of S. pneumoniae meningitis is in children younger than 2 years. Universal use of heptavalent
pneumococcal conjugate vaccine (PCV7) in infancy in
the United States has reduced the incidence of invasive
disease including bacterial meningitis by 90% (Black
etal, 2004). Predominant causes of bacterial meningitis
in older children and adolescents are S. pneumoniae and
N. meningitidis.
Risk factors for bacterial meningitis in children include penetrating head injuries, CSF leaks, immunocompromised states such as human immunodeficiency
virus infection, asplenia, and immunoglobulin deficiencies. Staphylococci and gram-negative organisms are
responsible for infection in patients with ventriculoperitoneal shunts. In patients with cochlear implants, a more
than 30-fold increase in the incidence of pneumococcal
meningitis has been noted (Reefhuis et al, 2003).
Clinical features of meningitis are variable and depend on the patients age. Fever, mental status changes,
and nuchal rigidity are present in less than 50%. These
findings are not specific for meningitis. Seizures are the
presenting symptom in about one third of cases of bacterial meningitis and are most common in S. pneumoniae
and H. influenzae type b infections (Kaplan, 1999).
Petechiae and purpura are most common in meningococcal meningitis. Focal neurologic signs or papilledema
raises concern about increased intracranial pressure.
222
MOVEMENT DISORDERS
Two types of movement disorders are common in pediatrics: tics and tremors.
Tremors are rhythmic, involuntary movements with
a variety of amplitudes and frequencies. There are numerous causes of tremor. Resting tremors are typically
found in basal ganglia disorders and therefore are not
as commonly seen in the pediatric population. Action
tremors do not occur at rest but are elicited with voluntary muscle contraction. Intention tremor and postural
tremor are both types of action tremor. Typically, these
tremors are localized to the cerebellum and its pathways.
Medications such as valproic acid and sympathomimetics may cause tremor.
Essential tremor is the most common tremor type.
No other neurologic abnormalities are found on examination. Arms and hands are predominantly involved.
Commonly, a family history is elicited because most
patients inherit this condition as an autosomal dominant disorder. The diagnosis can be made by history
and examination. In patients with unilateral tremor of
rapid onset or resting tremor, another diagnosis should
be explored. Primidone or propranolol can be used for
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Aicardi J: Malformations of the CNS. In Disease of the Nervous System in Childhood. London, Mac Keith Press, 1992, pp 139-181.
Alexopoulos AV, Kotagal P, Loddenkemper T, et al: Long-term results with vagus nerve stimulation in children with pharmacoresistant epilepsy. Seizure 15(7):491-503, 2006.
Arditi M, Mason EO Jr, Bradley JS, et al: Three year multicenter
surveillance of pneumococcal meningitis in children: Clinical characteristics, and outcome related to penicillin susceptibility and
dexamethasone use. Pediatrics 102:1087-1097, 1998.
Aurelius E, Johansson B, Skoldenberg B, et al: Rapid diagnosis of herpes simplex encephalitis by nested polymerase chain reaction assay
of cerebrospinal fluid. Lancet 337:189-192, 1991.
Barth P (ed): Disorders of Neuronal Migration. London, Mac Keith
Press, 2003.
Berkovic SF, Harkin L, McMahon JM, et al: De-novo mutations of the
sodium channel gene SCN1A in alleged vaccine encephalopathy:
A retrospective study. Lancet Neurol 5(6):488-492, 2006.
Black S, Shinefield J, Baxter R, et al: Postlicensure surveillance for
pneumococcal invasive disease after use of heptavalent pneumococcal conjugate vaccine in Northern California Kaiser Permanente. Pediatr Infect Dis J 23:485-489, 2004.
Centers for Disease Control and Prevention: Diminishing racial disparities in early onset neonatal group B streptococcal diseaseUnited
States, 2000-2003. MMWR Morb Mortal Wkly Rep 53:502-505,
2004.
223
Martin M, Casellas JM, Madhi SA, et al: Impact of Haemophilus influenzae type b conjugate vaccine in South Africa and Argentina.
Pediatr Infect Dis J 23:842-847, 2004.
McIntyre PB, Berkey CS, King SM, et al: Dexamethasone as adjunctive therapy in bacterial meningitis: A meta-analysis of randomized
clinical trials since 1988. JAMA 278:925-931, 1997.
McMahon WM, Filloux FM, Ashworth JC, Jensen J: Movement disorders in children and adolescents. Neurol Clin 20:1101-1124,
2002.
Mittenberg W, Wittner MS, Miller LJ: Postconcussive syndrome occurs in children. Neuropsychology 11:447-452, 1997.
Modoni A, Silvrestri G, Pomponi MG, et al: Characterization of the
pattern of cognitive impairment in myotonic dystrophy type 1.
Arch Neurol 61:1943, 2004.
Nelson KB, Lynch JK: Stroke in newborn infants. Lancet Neurol
3:150-158, 2004.
Nigro G, Comi L, Politano L, Bain R: The incidence and evolution of
cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol
26(3):271-277, 1990.
Nikolai J, van der Linden I, Arends JB, et al: EEG characteristics related to education impairment in children with benign childhood
epilepsy with central temporal spikes. Epilepsia 48(11):2093-2100,
2007.
Practice Parameter: The neurodiagnostic evaluation of the child with a
first simple febrile seizure. Pediatrics 97(5):769-772, 1996.
Primec ZR, Stare J, Neubauer D: The risk of lower mental outcome in
infantile spasms increases after three weeks of hypsarythmia duration. Epilepsia 47(12):2202-2205, 2006.
Reefhuis J, Honein MA, Whitney CG, et al: Risk of bacterial meningitis in children with cochlear implants. N Engl J Med 349:435-445,
2003.
Schrag S, Gorwitz R, Fultz-Butts K, Schuchat A: Prevention of perinatal group B streptococcal disease: Revised guidelines from CDC.
MMWR Morb Mortal Wkly Rep 51:1-22, 2002.
Shinnar S, Berg AT, Moshe SL, et al: Risk of seizure recurrence following a first unprovoked seizure in childhood: A prospective study.
Pediatrics 85:1076-1108, 1990.
Sillanp M: Changes in the prevalence of migraine and other headaches during the first seven school years. Headache 23:15-19,
1983.
Sillanp M, Piekkala P, Kero P: Prevalence of headache at preschool
age in an unselected child population. Cephalalgia 11:239-242,
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Silva M, Licht D: Pediatric central nervous system infections and inflammatory white matter disease. Pediatr Clin North Am 52:11071126, 2005.
Wald ER, Kaplan SL, Mason EO Jr, et al: Dexamethasone therapy for
children with bacterial meningitis. Meningitis Study Group. Pediatrics 95:21-28, 1995.
Wheless JM, Clarke DF, Carpenter D: Treatment of pediatric epilepsy:
Expert opinion, 2005. J Child Neurol 20(Suppl 1):S1-S56, 2005.
24
CHROMOSOMAL DISORDERS
AND FRAGILE X SYNDROME
Anne Chun-Hui Tsai, Laura Pickler,
Nicole Tartaglia, and Randi Hagerman
GENERAL FEATURES
Fifteen percent of recognized pregnancies result in a
spontaneous abortion; half of those aborted fetuses are
chromosomally abnormal. Six percent of stillborn infants and a similar percentage of neonatal deaths have
chromosome anomalies. The fetus with a chromosome
abnormality is more likely to be underdeveloped, to
have malformations, or to have hydrops or demise.
However, not all live-born infants are so severely affected; small or dysmorphic infants or children may
also have a chromosome abnormality. Inherited chromosome problems may be suspected in couples with infertility, recurrent spontaneous abortions, and stillborn
or live-born dysmorphic infants. When the diagnosis
of a chromosome abnormality is made prenatally, the
outcome may be difficult to predict because most available clinical findings come from observation of children
diagnosed as a result of problems after birth. Chromosomal studies are indicated when there is clinical suspicion of an underlying genetic explanation for a childs
physical or developmental problems. Table 24-1 summarizes specific findings that should prompt this type
of evaluation.
CHROMOSOME PREPARATION
AND MOLECULAR CYTOGENETICS
Karyotype
Chromosome structure is visible only during mitosis,
most often achieved in the laboratory by stimulation
of a blood lymphocyte culture with a mitogen for 3
days. Other tissues used for this purpose include skin,
products of conception, cartilage, and bone marrow.
Chorionic villi or amniocytes are used for prenatal diagnosis. Spontaneously dividing cells without a mitogen
are present in bone marrow, and historically, bone marrow biopsy was done when immediate identification of
a patients chromosome constitution was necessary for
appropriate management (e.g., to rule out trisomy 13
in a newborn with a complex congenital heart disease).
However, this invasive test has been replaced by the
fluorescent in situ hybridization (FISH) technique (see
later discussion).
224
225
Figure 24-1. Clinical photographs of children with sex chromosomal anomalies, XXY, XYY, and XXYY syndromes.
Vignette
M. C. is a 10-year-old girl with dysmorphic features
including prominent forehead, deep-set eyes,
large mouth, wide-spaced teeth, digital anomalies,
hypotonia, and intellectual disability (IQ of 45).
Past history is significant for atrial septal defect and
ventricular septal defect repair, seizure disorder, and
sleep disturbance as well as self-mutilating behaviors.
Family history is significant for two maternal
spontaneous abortions. The differential diagnosis
includes chromosomal rearrangements, telomeric
rearrangements, Smith-Magenis syndrome, and 1p36
deletion. A microarray chip analysis was performed
that confirmed 1p36 miscorrelations.
CHROMOSOME NOMENCLATURE
Visible under the microscope is a constriction site on
the chromosome called the centromere, which separates
the chromosome into two arms: p, for petite, refers to the
short arm; and q, the letter following p, refers to the long
arm. Each arm is further subdivided into numbered bands
visible by use of different staining techniques. Centromeres
are positioned at different sites on different chromosomes
and are used to differentiate the chromosome structures
seen during mitosis as metacentric (p arm and q arm of
almost equal size), submetacentric (p arm shorter than
q arm), and acrocentric (almost no p arm). The use of
named chromosome arms and bands provides a universal
method of chromosome description. Common symbols include del (deletion), dup (duplication), inv (inversion), ish
(in situ hybridization), i (isochromosome), pat (paternal
origin), mat (maternal origin), and r (ring chromosome).
See the next section for definitions of these terms.
CHROMOSOME ANOMALIES
Chromosome anomalies may be numerical or structural.
Numerical anomalies can result in either aneuploidy
or polyploidy. Aneuploidy is loss or gain of one or,
rarely, two chromosomes, exemplified by trisomy 21 or
monosomy X. Polyploidy is the addition of a complete
haploid, as in 69,XXX, or 69,XYY.
Structural anomalies are rearrangements of genetic
material within or between chromosomes. These may be
either genetically balanced, in which there is no change
in the amount of essential genetic material and the phenotype is normal, or unbalanced, with a gain or loss
of essential chromosome segments. Examples include
microdeletions (for further discussion, see Chapter 26);
226
Numerical Anomalies
Trisomy
Trisomy is the presence of three copies of a chromosome rather than the normal two copies. Trisomies for
each of the autosomes except chromosome 1 have been
recorded. Most trisomic embryos are lost in early pregnancy. Trisomy is the most common finding in chromosomally abnormal embryos studied after a spontaneous
abortion. With rare exceptions, only autosomal trisomies 13, 18, and 21 survive to term and are seen in
the population. Trisomy for sex chromosomes, such as
XXX or XXY, has fewer deleterious effects on development; most of these trisomies result in term live births.
The pathogenesis of trisomy is generally thought to be
an error of nondisjunction. Nondisjunction is a failure
of segregation of chromosomes or chromatids at cell division, which can occur during meiosis or mitosis.
Trisomy 21
Refer to Chapter 25.
Trisomy 13
The newborn incidence is approximately 1 in 5000.
Most trisomy 13 fetuses spontaneously abort in the first
trimester. During the second trimester, abnormalities
observed on ultrasound examination include growth retardation, congenital heart lesions, midline brain and facial lesions (e.g., holoprosencephaly), and omphalocele.
Newborns with trisomy 13 also have midline abnormalities (i.e., scalp cutis aplasia, brain malformations, central
or unilateral facial clefts), omphalocele, and polydactyly.
Almost all affected newborns have lethal cardiac anomalies. Intellectual disability in survivors is profound.
Trisomy 18
The newborn incidence is approximately 1 in 3500.
Most trisomy 18 pregnancies result in spontaneous
abortions or stillbirths. Abnormalities such as severe intrauterine growth retardation, congenital heart lesions,
and diaphragmatic hernia are frequently detected by ultrasound examination. The newborn with trisomy 18
has a small facies with prominent occiput, small ears,
overlapping fingers, and rocker-bottom heels. Almost
all of these newborns have cardiac as well as other internal malformations. Newborns are more likely to be
female, and they are profoundly handicapped.
Most pediatricians agree with withdrawal of life support in infants with trisomy 18 and trisomy 13. However,
a small portion of parents choose to continue aggressive
treatment for their children with such conditions. A support group resource, Support Organization for Trisomy
18, 13, and Related Disorders (SOFT), exists for parents
and is available at http://www.trisomy.org.
47,XXY (Klinefelter Syndrome)
The prevalence of 47,XXY is 1 in 700 male births.
There is a very large spectrum of involvement; some individuals are significantly affected by the developmental
XXY and social difficulties, language evaluation including pragmatic language assessment should be completed
because deficits are common despite cognitive skills in
the normal range. Social skills groups and other interventions for social development are also recommended.
Occupational therapy strategies to improve sensory
processing problems and self-regulation are also recommended as indicated. Parents should be provided with information for national support organizations, including
Klinefelter Syndrome and Associates (www.genetic.org)
and the American Association for Klinefelter Syndrome
Information & Support (www.AAKSIS.org).
47,XYY
The prevalence of 47,XYY is 1 per 1000 male births,
although studies estimate that up to 90% of XYY
males are undiagnosed. Although initially publicized as
such, the diagnosis of 47,XYY is not associated with
increased aggressive or criminal behaviors. Children
with XYY syndrome may be diagnosed incidentally by
prenatal diagnosis, or they may be identified postnatally when genetic testing is ordered for developmental delays or behavioral difficulties. The additional
Y chromosome is paternally inherited; thus, there is no
association with advanced maternal age. Males with
47,XYY are not dysmorphic, and the most consistent
clinical feature is tall stature, with most at the 75th percentile or above. Musculoskeletal manifestations can
commonly include long fingers and pes planus. Motor
tics and essential tremor have been described in XYY
males as well. Pubertal development and testosterone
production are normal in XYY syndrome, and fertility
is generally unimpaired.
Prospective studies of XYY children identified by newborn screening studies show cognitive scores within the
typical range, with a slightly increased risk for languagebased learning disabilities. Motor coordination deficits
and graphomotor problems can also be more common.
Studies that compare outcomes in prenatally versus postnatally diagnosed cases show significantly more neurodevelopmental problems in postnatally diagnosed cases,
including increased developmental delays, learning disabilities, ADHD, and pervasive developmental disorder.
Prenatally diagnosed cases should be monitored closely
because of their risk for developmental delays, with
formal developmental assessments starting at 6 to 12
months of age and prompt initiation of early intervention services when indicated. For postnatally diagnosed
cases, a full developmental or psychoeducational assessment including speech-language and motor skills evaluation will guide treatment planning. XYY children can
have behavioral manifestations of ADHD, including hyperactivity and impulsivity, as well as mood instability
and anxiety. Assessment and treatment of ADHD and
other emotional and behavioral symptoms with behavioral interventions and psychopharmacologic agents are
recommended when indicated. Approximately 10% of
children diagnosed with XYY have autism spectrum disorders; thus, XYY children with social deficits should
be formally evaluated for autism spectrum disorders
because this diagnosis has an impact on treatment and
educational recommendations. Parents should also be
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Monosomy
Monosomy is the presence of only one member of a
chromosome pair in a karyotype. It is generally more
detrimental to embryonic and fetal development than
is the equivalent trisomy. Monosomy may result from
nondisjunction or chromosome lag. A chromosome may
lag at anaphase and be excluded from the new nucleus.
In males, lag of the Y chromosome at meiosis is thought
to be a common cause of X chromosome monosomy
(i.e., Turner syndrome).
Turner Syndrome (45,X)
Among live-born females, 1 in 2500 has Turner syndrome. The majority of 45,X fetuses present as growthdisorganized embryos that spontaneously abort during
the first trimester of pregnancy 99% of the time. These
monosomies represent about 10% of early spontaneous
abortions. Some 45,X fetuses are detected on ultrasound
examination in the second trimester. The fetus has a cystic hygroma or a more generalized fluid collection (e.g.,
hydrops fetalis). Additional findings include preductal
coarctation and horseshoe kidney. The majority of these
228
a
deletion
a
b
ring
Polyploidy
Polyploidy is the state in which the chromosome count
is double or triple that of a normal pregnancy. Most
of these pregnancies abort by 20 weeks, making them
unlikely to be seen as a live birth and subsequently ascertained by a developmental pediatrician.
inversion
duplication
breaks
Structural Anomalies
Many different types of structural chromosome anomalies exist. In clinical context, the plus sign or minus sign
preceding the chromosome number indicates increased
or decreased number, respectively, of that particular
whole chromosome in a cell. For example, 47,XY+21
designates a male with three copies of chromosome 21.
The plus sign or minus sign after the chromosome number
signifies extra material or missing material, respectively,
on one of the arms of the chromosome. For example,
46,XX,8q denotes a deletion on the long arm of
chromosome 8. Detailed nomenclature, such as 8q11, is
insertion
B
Figure 24-2. Examples of structural chromosome abnormalities:
inversion, deletion, and ring (A); duplication and insertion (B).
Continued
229
Robertsonian translocation
Reciprocal translocation
Isochromosome p
rearrangement
Isochromosome q
Inversion (inv). In this aberration, a rearranged section of a chromosome is inverted. It can be paracentric (not involving the centromere) or pericentric
(involving the centromere). The phenotype is usually
normal. Inversion carriers may have offspring with
subsequent anomalies, such as those seen in San
Luis Valley syndrome, also known as recombinant
8 syndrome.
Ring chromosome (r). Deletion of the normal telomeres (and possibly of other subtelomeric sequences) leads to subsequent fusion of both ends to form
a circular chromosome. Ring chromosome anomalies often cause growth retardation and cognitive
disabilities.
Translocation (trans). This describes the interchromosomal rearrangement of genetic material. Translocations may be balanced (the cell has a normal
230
content of genetic material arranged in a structurally abnormal way) or unbalanced (the cell has
gained or lost genetic material as a result of chromosomal interchange). Balanced translocations may
further be described as reciprocal, the exchange of
genetic material between two nonhomologous
chromosomes, or Robertsonian, the fusion of two
acrocentric chromosomes.
Insertion (ins). Breakage within a chromosome at
two points and incorporation of another piece of
chromosomal material is called insertion. This
requires three breakpoints and may occur between
two chromosomes or within the same chromosome.
The clinical presentation or phenotype depends on
the origin of the inserted materials.
Isochromosome (i). One of the chromosome arms,
either p or q, is duplicated and all the material from
the counterpart arm is lost. This results in a mirrorimage p or q arm on both sides of the centromere.
Examples include maternal i(15q), which leads to
Prader-Willi syndrome, and i(Xq), which causes
Turner syndrome.
Mosaicism
Simply defined, mosaicism refers to the presence of two
or more cell lines of different genetic or chromosomal
material within one individual. Whether mosaicism is
clinically relevant is dependent on the tissue involved
and the percentage of abnormal genetic material present
in that tissue. Mosaicism can occur in both structural
and numerical chromosomal rearrangements. As a general rule, an individual with an aneuploid line in only
some tissues is likely to have a phenotype less severe
than but qualitatively similar to that of someone with
the nonmosaic aneuploidy. Asymmetry in body distribution may result in hypoplasia or hyperplasia of the
affected tissues. Mosaicism that excludes the bone marrow may give a normal karyotype in the blood. If there
is a high suspicion of mosaicism based on clinical findings, a skin biopsy with use of cultured skin fibroblasts
may be necessary to ascertain the abnormal karyotype.
If the skin is similarly not affected, tissue sampling of
other tissues may be necessary to make the diagnosis.
Mosaicism can be discussed in the context of somatic
abnormalities as well as germline mosaicism, placental
mosaicism, and amniotic fluid cell mosaicism. In isolated
germline mosaicism, the abnormal cell lines are confined
to the germ cells (egg or sperm). In this case, it is possible
for mosaicism to be transmitted to offspring. In conditions in which fertility is known to be affected, germline
mosaicism may result in unexpected fertility, such as
in Turner syndrome or Klinefelter syndrome. Placental
mosaicism and amniotic fluid cell mosaicism typically
become important in prenatal diagnosis situations and
may not reflect a true constitutional mosaicism of the
embryo and thus should be interpreted with caution.
A mosaic state may originate in either meiosis or mitosis, which are substantially chromosome specific (not
all chromosomal abnormalities have the same mechanism of origin). The zygote may have been normal or
trisomic initially, followed by a postzygotic event that
results either in initiation of an abnormal cell line or
Spontaneous mutation
Mutation proliferation
50% Mosaicism
B
Figure 24-3. A, Mechanism of mosaic chromosomal anomalies.
B, Photograph of a child with Pallister-Killian syndrome, a clinical
example of mosaicism.
Heterodisomy
Fathers chromosomes
Isodisomy
Uniparental disomy
Heterodisomy
Normal combinations
full trisomy 8 syndrome. Patients are dysmorphic in appearance and tend to have poor coordination. The degree
of mental deficiency is variable from normal to moderate
intellectual disability. Motor delays may occur. Other organ systems that may be involved include cardiac, ureteralrenal, musculoskeletal, and hematologic. On occasion,
conductive deafness may occur, and auditory acuity
should be suspected in patients with language delay.
Pallister-Killian syndrome (also known as Pallister
mosaic syndrome, tetrasomy 12p, and Killian-TeschlerNicola syndrome; Fig. 24-3B) is caused by true mosaicism for a small supernumerary marker chromosome
12p. In most cases, the isochromosome 12p is detected
preferentially in skin fibroblasts and not in peripheral
blood. This syndrome is characterized phenotypically
by postnatal growth deceleration, profound intellectual
disability with seizures developing in infancy, and poor
speech development. Facies are dysmorphic with sparse
anterior scalp hair particularly in the temporal areas
during infancy, which resolves as the child ages. Streaks
of hyperpigmentation or hypopigmentation of the skin
may be present. Hearing and vision may be compromised and should be screened in affected individuals.
Hypermelanosis of Ito encompasses a heterogeneous
group of disorders characterized by hypopigmented
whorls and streaks following Blaschkos lines with associated intellectual disability, seizures, or asymmetry
in other organs. According to Taibjee and colleagues
(2004), only 30% to 60% of patients diagnosed clinically
had a demonstrable cytogenetic abnormality. However,
of those in whom an abnormality was found, 95% were
either mosaic or chimeric. The exact mechanism to explain abnormal pigmentation in pigmentary mosaicism
is currently unknown. A number of hypotheses have
been made. Research in this area is active and ongoing.
Uniparental Disomy
Uniparental disomy (UPD) describes the situation
whereby both chromosomes (or chromosomal segments) are inherited from the same parent (Fig. 24-4).
The chromosomes may be identical (called isodisomy)
or different (called heterodisomy). Although UPD for
nearly every chromosome has been described, there are
currently several more common genetic conditions associated with UPD. These include Prader-Willi syndrome
(UPD 15, maternal in origin), Angelman syndrome
(UPD 15, paternal in origin), Beckwith-Wiedemann syndrome (UPD 11, paternal in origin), and Russell-Silver
231
Isodisomy
Uniparental disomy
232
Other Anomalies
Marker Chromosomes
Marker chromosomes are extra chromosomal pieces
found during karyotyping that are usually derived from
a structural rearrangement. They may be in the form of
a ring or biosatellite chromosomes with or without centromeres. With a centromere, the structure is relatively
stable; without centromeres, the marker chromosomes
tend to be smaller, may exhibit mitotic instability, and
may have mosaic form. Various amounts of heterochromatin or euchromatin may be present. Many markers
are compatible with normal development and normal
intelligence and may be inherited with no phenotypic
consequence. Others, such as inverted-duplication chromosome 15 markers, can have associated phenotypic abnormalities. Identification of the marker can be achieved
by FISH or microarray chip assay.
Chromosome Breakage
Chromosome breaks present as random visible lesions in
metaphase chromosomes. They can lead to subsequent
structural changes such as deletion and translocation.
Vignette
A mother brings her 2-day-old daughter to your clinic
because of coloboma of iris, preauricular pits, and
congenital heart defect. The mother was also noted
to have preauricular pits but was physically and
intellectually normal. Physical examination of the child
revealed micrognathia, low-set ears, hypertelorism,
down-slanting palpebral fissures, and anal stenosis.
Ophthalmologic evaluation showed coloboma of
choroids and retina. A karyotype of the child revealed
a marker chromosome of 22 origin: supernumerary inv
dup (22)(q11) chromosome. Subsequent karyotyping of
the mother revealed a mosaic marker.
Minimal numbers of breaks can be identified in normal individuals; however, individuals with the group
of disorders named chromosome breakage syndromes
have increased breaks that are inducible by chemicals
and environmental insults. Examples include Fanconi
pancytopenia syndrome (covered in Chapter 26), Bloom
syndrome, and ataxia-telangiectasia. Bloom syndrome
is characterized by short stature, failure to thrive, and
malar telangiectasia. Diagnosis can be made by observing sister chromatid changes. Ataxia-telangiectasia
is characterized by progressive ataxia and telangiectasia involving eyes, conjunctiva, and other facial areas.
There is a higher association of infections and malignant
neoplasia. Increased breakage under normal chromosome culture can be seen, and random structural anomalies can sometimes be identified. Molecular analysis is
available for these three conditions. However, because
of the genetic heterogeneity, a breakage study is usually
performed to further confirm the disease before specific
DNA testing is offered.
can only carry the premutation. The full mutation is usually methylated, so there is little or no messenger RNA
(mRNA) produced from this gene and therefore little or
no FMRP. It is the absence or deficiency of FMRP that
causes FXS. The level of FMRP deficit correlates with IQ,
such that the more FMRP present, the higher the IQ.
Although most males with FXS are intellectually disabled, approximately 15% are not and instead present
with ADHD and learning disabilities. Females with FXS
are usually not intellectually disabled but may present
with learning disabilities, attention problems, or full
ADHD in addition to having shyness and social anxiety.
Math is always the most significant learning problem academically, but language deficits and visual-motor coordination problems are also common. Perseverative speech
is almost universal in children with FXS, although approximately 10% are nonverbal, and selective mutism is
common in the females with FXS. Approximately 30% of
boys with FXS have full autism; an additional 20% meet
criteria for pervasive developmental disorder not otherwise specified. Even those without autism will often have
poor eye contact, hand mannerisms such as hand flapping
or hand biting, and repetitive speech. All children with
autism or autism spectrum disorders or intellectual disability should have fragile X DNA testing to rule out a
mutation in FMR1; approximately 2% to 6% of children
who present with autism have a fragile X mutation.
The physical features of FXS include large or prominent ears, hyperextensible finger joints, and large testicles or macro-orchidism beginning in early puberty.
However, 30% of children with FXS do not have obvious physical features, so DNA testing should not be
dependent on these features and is indicated in any child
with developmental delay of unknown etiology. It is important to make the diagnosis as early as possible so
that intervention, including speech and language therapy, occupational therapy, and special education support, can be started and appropriate genetic counseling
can be given to the whole family.
Many children with FXS do well with stimulant medication for their ADHD; selective serotonin reuptake
inhibitors for their anxiety; and atypical antipsychotics
(such as aripiprazole) for their autism, mood instability, or aggression. Specific targeted treatments of FXS
that will reverse the enhanced long-term depression that
is leading to weak synaptic connections is a hope for
the near future. The long-term depression in FXS occurs
through up-regulation of the metabotropic glutamate
receptor 5 (mGluR5) pathway that occurs in the absence
of FMRP, which is normally inhibitory for this pathway.
Therefore, specific treatments of FXS would include use
of mGluR5 antagonists. If trials in adults with FXS are
successful, these targeted treatments may be available
in the future for children with FXS. In animal studies,
including the fragile X knockout mouse, mGluR5 antagonists decrease seizures and help the cognitive deficits.
Clinical involvement can occur in individuals with the
premutation through a different molecular mechanism
called RNA toxicity. The premutation is associated with
enhanced translation of the FMR1 gene, so that two
to eight times normal levels of FMR1 mRNA are produced. This is just the opposite of FXS, in which little
233
234
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in congenital diseases of aberrant growth. Bioessays 28(5):453459, 2006.
25
Down syndrome (DS) is the most common genetic disorder causing intellectual disability. This discussion of
its diagnosis and management serves the dual purpose
of reminding the clinician of the important features of
this condition and providing a model for the management of other developmental disabilities, combining a
comprehensive understanding of the biologic disorder
and an appreciation of how the parents, extended family, and community respond to the child and the childs
unique needs.
DS was first described by John Langdon Down in
1865. Jrme Lejeune discovered the presence of an extra twenty-first chromosome (trisomy 21) in individuals
who fit Downs description in 1959. DS occurs in 1/733
live births or 1/150 conceptions. The higher rate for
conceptions reflects the fact that one of four spontaneous abortions are fetuses with trisomies of any kind.
GENETICS
Three different chromosomal abnormalities are associated with individuals who have the phenotypic appearance of DS: trisomy 21, translocations, and mosaicism.
Ninety-five percent of individuals with the physical appearance of DS have trisomy 21, which is the presence
of an extra chromosome 21 as a result of nondisjunction. In nondisjunction, the chromosomes fail to pair
or fail to exchange genetic material. This usually occurs
at the first meiotic division, although it can occur at the
second meiotic division as well. The extra chromosome
is most often of maternal origin, but paternal origin occurs as well; in one study, 7% of the infants received the
extra chromosomal material from their fathers. Nondisjunction occurs sporadically in individuals of all ages;
however, the association of increasing maternal age
and trisomy reflects a well-known age-related increase
in meiosis I nondisjunction. Although trisomy 21 occurs sporadically, empirically the rate of recurrence of
trisomy 21 irrespective of age is 1%. Nevertheless, for
most women, the age-related risk predominates. At age
35 years, the risk is approximately 1 in 250. By age 48
years, the risk of trisomy 21 is 1 in 11.
Although there are more parents who delay childbearing into their 30s and beyond, most of the infants
236
98%
95%
87%
83%
75%
75%
60%
50%
50%
237
v ulnerabilities that occur in greater frequency in children with DS. This has led to the development of specific
screening protocols to prevent a secondary disability,
which occurs when a treatable medical condition that
can exacerbate a developmental problem is overlooked.
For example, children with DS generally have delays in
acquiring spoken language. They also are at greater risk
for hearing loss. The clinician who attributes the delay
in spoken language to the developmental disabilities of
DS and fails to detect and then to treat or habilitate this
hearing loss will further compromise language function.
What follows is a systematic review of health concerns
in individuals with DS.
Cardiovascular Disorders
Congenital heart disease has been estimated to occur
in about 50% of infants with DS. The most commonly
occurring conditions are atrioventricular septal defect,
ventricular septal defect, atrial septal defect, and tetralogy of Fallot. Whereas most children with a hemodynamically significant lesion will present with cardiac
signs and symptoms, in some children, an atrioventricular septal defect may be present in the absence of a murmur. These children develop early increased pulmonary
vascular resistance that reduces the left-to-right intracardiac shunt, minimizes the heart murmur, and prevents
symptoms of heart failure and respiratory problems.
Such individuals who seem to be doing clinically well
may be developing serious pulmonary vascular changes.
The only reliable way to exclude serious structural congenital heart disease is by echocardiography. Therefore,
a pediatric cardiologist should evaluate infants as soon
as the diagnosis of DS is made.
Gastrointestinal Disorders
Congenital gastrointestinal tract malformations, such
as duodenal atresia and imperforate anus, occur in approximately 5% of children with DS. Vomiting and the
inability to tolerate feedings in the first 12 hours of life
warrant immediate investigation. The diagnosis of intestinal obstruction may be the first clue to the diagnosis of
DS. Prenatal ultrasound findings of a double bubble
or polyhydramnios may suggest the diagnosis in utero.
These conditions are rarely occult, and the obvious need
for intervention makes it impossible to overlook them.
Hirschsprung disease is 25 times more likely to occur
in individuals with DS than in the typical child. Failure
to pass meconium in the first 24 hours of life may be
the first clue to this condition. Severe constipation in
infancy is an indication for evaluation for Hirschsprung
disease by a pediatric gastroenterologist or a pediatric
surgeon because of the high mortality associated with
enterocolitis in the untreated child. Chronic constipation is reported in 30% of individuals with DS. It is
often successfully treated with dietary interventions,
such as pear or prune juice, prunes, and Karo syrup,
or over-the-counter preparations that act as stool softeners, such as Maltsupex. Some children require use of
osmotic agents such as lactulose or polyethelene glycol.
Failure to respond should suggest further evaluation for
Hirschsprung disease or hypothyroidism. Gastroesophageal reflux occurs commonly and needs to be treated to
238
croup, and this may reflect silent reflux causing laryngeal irritation.
Sleep Abnormalities
Ear, nose, and throat problems are common in children with DS. Because of the characteristic midfacial
hypoplasia, manifested as narrow airways, eustachian
tubes, sinus ostia, and external auditory canals, children
with DS are at increased risk for recurrent otitis media, nasopharyngitis or sinusitis, and the consequences
of chronic serous otitis media. This is of particular significance, given the well-known difficulties in expressive
language development in children with DS. The team
of physicians caring for the child must ensure optimal
hearing to avoid the undesirable consequence of suboptimal language development. Common upper airway
abnormalities include laryngomalacia, tracheomalacia,
and subglottic stenosis. Such children need an ear, nose,
and throat evaluation, often including laryngobronchoscopy. Children with DS have frequent episodes of
In addition to ear, nose, and throat infections, individuals with DS have been shown to have deficiencies of
cellular and humoral immunity. Although it is rare, children with DS have been reported to have a deficiency of
immunoglobulin G subclasses 2 and 4 in the face of normal total immunoglobulin G. Children with repeated
serious pyogenic infections, such as pneumonia and
empyema, need to have quantitative immunoglobulins
measured and then to be treated accordingly (Nespoli
et al, 1993; Ugazio et al, 1990). Furthermore, children
with recurrent pneumonia should be evaluated for gastroesophageal reflux and aspiration. Children with DS
who meet standard cardiac and pulmonary criteria for
respiratory syncytial virus prophylaxis are urged to receive palivizumab to prevent infection during the winter months because their narrow airways put them at
Ophthalmologic Difficulties
239
of normal. A number of pediatric endocrinologists empirically treat these children with thyroid replacement
therapy, considering this condition to represent compensated hypothyroidism.
Hematologic Disorders
The central hypotonia, combined with oral-motor immaturity and lack of coordination of suck-swallow, can
interfere with the establishment of successful feeding in
the newborn period. This can be particularly difficult
for those mothers who wish to nurse their babies. Fortunately, lactation specialists can provide specific techniques to overcome these challenges.
Ligamentous laxity is a common finding in children
with DS. Together with hypotonia, these children pre
sent as floppy and flexible. It is rare to see congenitally
dislocated hips in children with DS, although hip problems do occur in adolescence. Adolescents also are prone
to patellar dislocation. The most potentially serious
problems caused by ligamentous laxity are related to
the occiput and cervical spine. Laxity of the transverse
ligaments can lead to excessive movement of C1 and C2.
A small percentage of individuals with DS (estimated
at 2%) will develop spinal cord compression from this
excess movement. Approximately 13% of individuals
with DS have more than 4.5 mm of distance between the
atlas and the dens on lateral cervical spine radiographs
on comparison of the neutral view with full flexion and
full extension. These individuals have been described
as having atlantoaxial instability and have been, in the
past, considered at risk for the development of spinal
cord compression. The belief that atlantoaxial instability is an asymptomatic precursor of cord compression
as well as the desire to prevent any possible injury led
to the recommendation that all individuals participating in Special Olympics have such studies performed.
However, recent reviews of the literature have suggested
that such screening may not be necessary and that individuals who are at risk for such spinal cord catastrophes
either have symptoms or signs (such as neck pain, weakness in the upper extremities, gait disturbance, bladder or bowel problems, or hyperreflexia and presence
of Babinski sign) or have been subjected to manipulation of the neck. This has led to the recommendation
of universal precautions in administering anesthesia to
children with DS, especially for ear, nose, and throat
procedures.
It has been suggested that measurement of the neural
canal width provides a better assessment of the likelihood of spinal cord compression. The evidence supporting the current recommendations for screening with
lateral cervical spine films (flexion, extension, and neutral) is not robust; our colleagues in the United Kingdom
discontinued screening 10 years ago. Until such time as
the current guidelines are revised, it would be prudent,
however, to continue to obtain these radiographs (including measurement of the neural canal width) between
3 and 5 years of age (the neural canal width should be
greater than 14 mm). Participants in Special Olympics and therapeutic equestrian programs may need to
be evaluated more frequently. Adults with DS are at
greater risk for cervical spine abnormalities because of
Endocrine Disorders
In childhood and adolescence, hypothyroidism occurs frequently, in approximately 15% of the population. Most of these cases are autoimmune in nature
(Hashimotos thyroiditis). Although it is less frequent,
hyperthyroidism (Graves disease) occurs as well. A population-based study of newborns with DS suggested that
it is a mild form of congenital hypothyroidism that is
rarely detected by neonatal screening. Thyroid supplementation in a group of these infants led to small but
statistically significant increases in motor development,
length, and weight (van Trotsenburg, Vulsma, and van
Rozenburg-Marres, 2005). These findings have not been
replicated as yet but are suggestive of the need for sensitivity to the subtleties of thyroid disorders in children
with DS. One such instance is the problem of recurrent
mild elevations of thyroid-stimulating hormone in the
face of free thyroxine levels at the low end of the range
Musculoskeletal Conditions
240
anatomic predisposition as well as the early onset of arthritic changes (Cohen, 2006). In any event, the presence
of signs or symptoms warrants further neuroradiologic
evaluation (magnetic resonance imaging). Symptomatic
individuals must be referred for neurosurgical evaluation and treatment, which consists of fusion of C1 and
C2 (Caird, Wills, and Dormans, 2006).
Epilepsy
Alzheimer Disease
Autistic Disorders
These disorders are more prevalent in children and adults
with DS. Whereas the incidence of autism in the general
population is reported at 15 per 10,000 population, current evidence suggests that the prevalence in DS is approximately 5% to 10%. In addition to an early onset
of symptoms, children with DS seem to be more likely
to develop the so-called disintegrative form of autism, in
which a child with adequate development of cognitive,
language, and adaptive skills undergoes a dramatic regression with the emergence of typical autistic features.
These children warrant a full investigation and should be
considered for prolonged video electroencephalographic
evaluation. The Aberrant Behavior Checklist has been
shown to be useful in characterizing children with DS
and autistic spectrum disorder (Capone et al, 2005).
typical children, most children with DS are growth hormone sufficient. However, when children with DS cross
percentile lines on the DS growth charts, they should be
evaluated for endocrinopathies (such as hypothyroidism and growth hormone deficiency) as well as for celiac
disease. On the other hand, school-age and adolescent
children with DS have a tendency to become overweight.
Therefore, growth charts for typically developing children
should be used in conjunction with DS-specific growth
241
charts because the typical charts will not accurately reflect appropriate linear growth, and the DS weight charts
fail to capture the extent of the overweight problem.
Most children with DS have mild to moderate intellectual disability. They have delays in all areas of development: gross and fine motor, cognitive, language,
and personal-social. There is one important exception:
in general, expressive (verbal) language abilities tend to
be more delayed than cognitive and receptive language
skills. For this reason, it is encouraged to teach children
sign language as part of a total communication approach to overcome problems in verbal expression and
to improve communication in general. Learning sign
language does not interfere with the subsequent development of spoken language. Adolescents and adults with
DS show continued expressive language development.
Nevertheless, some children do not develop any appreciable verbal expressive language. Younger children
may be candidates for use of PECS (Picture Exchange
Communication System), and older children without
any appreciable language are candidates for augmentive
communication devices.
Children with DS from 0 to 3 years of age are eligible
for Early Intervention services. This federally funded
program provides a range of developmental services,
rendered by child development specialists, occupational
therapists, physical therapists, and speech-language pathologists. The services are provided in the home.
Most new parents have no frame of reference to understand what intellectual or cognitive disability means.
They may believe that the child may never walk or talk
or be toilet trained. On the other hand, the frequently
although inaccurately used term developmental delay
implies that the child will eventually catch up. Parents
need to be sensitively educated to what will happen as
the child grows. This understanding generally develops
over time, and it can be cruel as well as incorrect to
attempt to address the issue of the childs future functional abilities. The use of information such as that in
Tables 25-6 and 25-7 can help orient parents to what
they might expect.
After 3 years of age, local school districts are responsible for providing educational services. Individuals with
disabilities are eligible for educational programming
through the age of 21 years.
EDUCATION
Most children with DS are eligible for special education
services under Federal laws 94-142 (passed in 1975) and
99-457 (passed in 1986). The most recent version, Individuals with Disabilities Education Act, was passed in
2004. In the not too distant past, most children with
special needs were educated in special classes, sometimes, but not always, located in neighborhood schools.
Within the past 20 years, following the innovative efforts of Canadian educators, individuals with special
needs have been educated in inclusive settings, that is, in
regular education classes alongside their age-mates. This
has been accomplished by providing supportive services
within the regular education setting, through a combination of assistive personnel to the pupil and support for
242
Normal Children
Average
(months)
Range
(months)
Average
(months)
Range
(months)
2
8
10
12
15
16
20
24
28
1-4
4-22
6-28
7-21
9-27
9-31
11-42
12-65
18-96
1
5
7
8
10
10
11
13
21
-3
2-10
5-9
6-11
7-13
6-14
8-16
8-18
14-32
From Pueschel SM (ed): Down Syndrome: Growing and Learning. Kansas City, Andrews, McMeel & Parker, 1978.
Normal Children
Average
(months)
Range
(months)
Average
(months)
Range
(months)
12
20
8-28
12-40
8
13
6-16
8-20
42
48
28-90
20-95
29
32
16-48
18-60
40
58
29-72
38-98
32
47
22-42
34-58
Figure 25-1. Kerry has just turned 22. She loves musical theater, singing
and, dancing. She
recently finished a vocational program and
has just been
hired to work at a department store.
243
244
SUMMARY
Children with DS provide a multifaceted opportunity to
integrate our expertise about the medical, developmental, and emotional issues surrounding the diagnosis and
management of this common condition. Our efforts to
use current knowledge to minimize the impact of the
medical and developmental challenges in the service of
promoting maximal functional adaptation of the individual with minimal personal burden to the family make
this endeavor both challenging and satisfying.
REFERENCES
American Academy of Pediatrics, Committee on Genetics: Health supervision for children with Down syndrome. Pediatrics 107(2):442449, 2001.
American College of Obstetrics and Gynecology, Practice Bulletin No.
77: Screening for fetal chromosomal abnormalities. Obstet Gynecol 109(1):217-228, 2007.
Caird MS, Wills BP, Dormans JP: Down syndrome in children: The
role of the orthopaedic surgeon. J Am Acad Orthop Surg 14:610619, 2006.
Capone GT, Grados MA, Kaufmann WE, et al: Down syndrome and
comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist. Am J Med Genet A 134:373-380, 2005.
Capone G, Goyal P, Ares W, et al: Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am
J Med Genet C Semin Med Genet 142C:158-172, 2006.
Chicoine B, McGuire D: Mental Wellness in Adults with Down Syndrome. New York, Woodbine House, 2006.
Cohen WI: Current dilemmas in Down syndrome clinical care: Celiac
disease, thyroid disorders and atlanto-axial instability. Am J Med
Genet C Semin Med Genet 142C:141-148, 2006.
245
INTERNET RESOURCES
Down Syndrome: Health Issues. This comprehensive, award-winning
site includes abundant information about Down syndrome, lists
of Down syndrome clinics, and abstracts. http://www.ds-health.
com/.
Growth Charts for Children with Down Syndrome. www.growthcharts.
com.
Transition Planning tool. http://transition.uclid.org.
National Down Syndrome Society. http://www1.ndss.org/. Telephone:
1-800-221-4602.
National Down Syndrome Congress. http://www.ndsccenter.org/.
Telephone: 1-800-232-NDSC.
Down Syndrome Research Foundation. http://www.dsrf.org.
Canadian Down Syndrome Society. http://www.cdss.ca/.
Down Syndrome Research and Treatment Foundation. http://www.
dsrtf.org/.
26
GENETIC SYNDROMES
AND DYSMORPHOLOGY
Virginia Kent Proud and Ellen Roy Elias
Developmental problems are characteristic of many different genetic conditions and syndromes. This chapter
reviews the genetic disorders that are typical of different mechanisms of inheritance: syndromes caused by
abnormalities in neighboring contiguous genes and
disorders inherited by mendelian inheritance patterns.
Autosomal dominant describes a mechanism of genetic
inheritance with a 50/50 chance of occurrence in offspring that can appear sporadically with advanced paternal age. Autosomal recessive describes a mechanism
of genetic inheritance with a 25% recurrence risk; it is
the genetic mechanism of most metabolic disorders and
some rare dysmorphic syndromes. X-linked conditions
are important particularly in the context of developmental and intellectual disability. There are several hundred
different X-linked forms of
intellectual disability,
and
mapping is beginning to clarify the underlying cause
of these conditions. The most common of these, fragile
Xsyndrome, is further described in Chapter 24.
Molecular studies provide high diagnostic accuracy
to confirm many of these disorders. It is often possible
to predict the phenotype on the basis of specific DNA
changes, known as genotype-phenotype correlation.
Multifactorial conditions include those caused by multiple genes and environmental factors. Many types of
developmental disabilities are due to this form of inheritance. Knowledge about an underlying genetic condition can facilitate prevention, such as preconception
treatment with diet or vitamins in future pregnancies
of mothers who have phenylketonuria. Finally, teratogenic mechanisms play a role in causing a significant
number of developmental disabilities. Clearly, environmental factors and underlying genetic tendencies combine to affect brain formation and function from early
in embryonic life throughout childhood. The natural
history of these many conditions reflects a changing
phenotype with age. Management of most disorders is
multidisciplinary, including medical genetics, pediatrics,
and developmental. A greater understanding of genetic
and molecular mechanisms is beginning to allow us to
better understand the etiology and management of many
developmental disorders.
246
247
Prader-Willi Syndrome
248
stature, hypotonia, joint laxity, hernias, and gastroesophageal reflux are common. Because this condition,
in part, is due to an elastin arteriopathy, any arteries may
have narrowing, such as renal or peripheral pulmonic
vessels. In addition, other connective tissue manifestations include hoarseness of the voice, hernias, lax joints,
and stretchy skin. The natural history of WBS includes
in utero growth delay with microcephaly and neonatal
cardiac defect with facial dysmorphism, hypercalcemia,
and hypercalciuria. In infancy, failure to thrive, developmental delays, and short stature become apparent.
Medical problems in childhood include hernias requiring surgery, endocrinopathies (particularly hypothyroidism and growth hormone deficiency as well as diabetes
mellitus), and presentation of precocious puberty and
hypertension in late childhood. By adolescence, hypertension may progress, as does high-frequency sensorineural hearing loss; and by adulthood, renal failure may
become apparent.
The incidence is approximately 1 in 20,000 live births.
WBS is due to a chromosomal microdeletion at 7q11.2
in the Williams-Beuren syndrome critical region. This
may be a cytogenetic deletion that is visible on highresolution banded chromosomes or detected only with a
molecular FISH probe of the elastin (ELN) gene, found
in 99% of patients with WBS. Another gene frequently
deleted is LMK1, associated with developmental problems. WBS can be diagnosed prenatally by interphase
FISH deletion of ELN1 or LMK1. WBS FISH probes
are included in comparative genomic hybridization
(CGH) targeted arrays. As a contiguous gene syndrome,
it is usually sporadic. However, autosomal dominant
inheritance of isolated supravalvular aortic stenosis or
supravalvular aortic stenosisplus has been reported
as inherited microdeletion of ELN. Except in these familial cases, individuals may have limited reproductive
potential. There have been rare cases of siblings, but
not parents, affected, more likely as a result of germline
mosaicism.
Developmentally, children with WBS present in the
neonatal period primarily with hypotonia and failure to
thrive. Gross motor delay with walking by 2 years of
age and fine motor delay become apparent in the second year. Characteristically, there is a unique, loquacious personality with good verbal and language skills
but unique learning disabilities with visual and motor
problems, hyperacusis, and strong verbal short-term
memory. Although intellectual disability may be present
in 75%, it is usually mild.
Management guidelines include initial cardiac evaluation together with monitoring of serum and urine calcium
concentrations. It may be necessary to modify calcium
intake. Periodic monitoring of thyroid and growth factors as well as ophthalmologic evaluation is indicated.
Support groups include the Williams Syndrome Association at www.williams-syndrome.org and the Williams
Syndrome Foundation at www.wsf.org.
Deletion 22q11.2
Deletion 22q11.2 was initially reported as DiGeorge
syndrome, a multiple congenital anomaly syndrome due
to abnormalities of derivatives of the third and fourth
249
250
Smith-Magenis Syndrome
Smith-Magenis syndrome is also known as 17p deletion
syndrome. This condition was first described by Smith
and colleagues in 1982, and the chromosomal interstitial
deletion was identified in 1986 at chromosome 17(p11.2
to p11.2). Clinical features include characteristic behavioral issues, mild to moderate intellectual disability, and
developmental delay. Unique sleep disturbances are described as reverse circadian rhythm. There are distinctive
facial features including a square face with broad brows,
deep-set eyes, and thick, everted, tented upper lip. Many
infants have failure to thrive, short stature, and hearing loss but with a normal head circumference in 80%.
A characteristic hoarse voice has also been described.
There is an evolution of the phenotype with age. Infants
are often passive. In childhood, eye, gastrointestinal, and
hearing problems become apparent. By adulthood, attenuation of the behavioral problems and a normal lifespan
may be expected. Epidemiology suggests that approximately 1 in 25,000 individuals may have Smith-Magenis
syndrome, and more than 100 individuals have been
described worldwide. Like other contiguous gene syndromes, most of these are sporadic events, although testing of parental blood is still recommended because of the
possibility of an inherited rearrangement. Children
from many different ethnic groups have been described
for this particular disorder. Chromosomal localization
of the contiguous gene deletion on chromosome 17 at
p11.2 is characteristic. Seventy percent of affected individuals have a common deletion that can be detected
by high-resolution banded chromosomes. FISH with a
DNA-specific probe or targeted CGH array detects approximately 95% of affected individuals. Sequencing
analysis of the RAI1 gene may identify a mutation in the
remaining 5%. Some of the clinical features that have been
attributed to this disorder are due to haploinsufficiency
of genes in this region, and primary features have been
attributed to the retinoic acidinduced gene (RAI1).
Developmental issues include sleep disturbances and
self-injurious behaviors, which are the hallmarks of
Smith-Magenis syndrome. Head banging, sensory integration issues, inattention with tantrums, and other maladaptive behaviors in the context of short stature, short
fingers or brachydactyly, and mild to moderate intellectual disability frequently will suggest the diagnosis. Many
children need specific therapeutic management of the sleep
disturbance. Communication systems including augmentative communication and sign language may be helpful to
modify the behavior. In polysomnographic studies, there
has been demonstrated a decrease in rapid eye movement
(REM) sleep in children with Smith-Magenis syndrome.
Erratic melatonin secretion has been documented.
Management guidelines include renal ultrasonography, echocardiography, spinal radiography, immunoglobulin determinations particularly looking for
evidence of immunoglobulin A deficiency, fasting lipid
signaling pathways, and deficient protein results in insufficient tumor suppressors. At this time, there is limited
genotype-phenotype correlation; however, DNA testing
to identify a mutation or large deletion in an affected
family member can by beneficial in prenatal diagnosis,
when there is a 50% recurrence risk.
Developmental manifestations show a wide variability of phenotypic expression. Twenty-five percent to
50% of patients with NF1 may have learning disabilities, and 5% to 10% have intellectual disabilities. Some
neurologic and developmental problems are specifically
related to the degree of central nervous system involvement with tumors; but even in individuals with no identifiable central nervous system abnormalities, there is an
increased likelihood of learning problems.
The National Institutes of Health consensus management guidelines include monitoring for tumors, especially optic glioma in a young child, by ophthalmologic
examination and diagnostic imaging studies. Monitoring of children for hypertension due to renal arterial
dysplasia can be critical. Multidisciplinary follow-up
of children by specialists in pediatrics, neurology, and
orthopedics and developmental specialists is recommended. When to perform brain magnetic resonance
imaging needs to depend on the neurologic examination
findings and reported symptoms. Teachers, therapists,
and early infant evaluation and therapy are indicated
on an individual basis. Support groups include The
Childrens Tumor Foundation at www.ctf.org and Neurofibromatosis, Inc., at www.nfinc.org.
Marfan Syndrome
Marfan syndrome (type 1) includes a group of connective tissue disorders predominantly due to fibrillin 1
abnormalities. Marfan (1896) described the first classic
patients; Boerger (1914) first noted ectopia lentis; and
McKusick (1956) delineated cardiovascular complications. Fibrillin 1 is a protein found in almost every
tissue. Mutations in the gene FBN1 include cardiovascular, skeletal, and eye manifestations. Other tissues
frequently involved are the skin, lungs, and dura of
the central nervous system. Classic features of Marfan
syndrome type 1 include dilation or dissection in the
aorta at the level of the sinus of Valsalva, myopia with
ectopia lentis, scoliosis with pectus excavatum or carinatum, arachnodactyly of the fingers and toes, spontaneous pneumothorax, dural ectasia, and striae or stretch
marks of the skin. Other typical skeletal manifestations
include disproportionate stature with an upper/lower
segment ratio of less than 0.86 and a facial gestalt with
a long narrow face, high arched palate, and crowded
teeth. The phenotype evolves with age so that infants
may have only skeletal or cardiac findings; toddlers may
have a characteristic facial gestalt, myopia, and stretchy
skin; and a 5-year-old may have mitral valve prolapse
and lax joints. In contrast, a 14-year-old first diagnosed
with a fibrillinopathy may present with only mildly disproportionate but not necessarily tall stature, spontaneous pneumothorax, pectus excavatum, mildly dilated
aortic outlet, and high myopia. In adults who have not
been previously recognized, fibrillinopathy may pre
sent as spontaneous ruptured thoracic aorta, dislocated
251
lens, glaucoma, cataracts, arthritis, varicosities, and lifethreatening complications in pregnancy. The incidence
of type 1 fibrillinopathies is approximately 1 in 5000
to 10,000 with no ethnic, geographic, or gender preference. The gene, FBN1, is located at 15q11.2 and codes
for the elastin protein fibrillin 1. A mutation in FBN1
is found by sequencing in approximately 93% of individuals who have clinical findings of Marfan syndrome
type 1. Marfan syndrome type 2, also called Loeys-Dietz
syndrome, has recently been described to be due to mutations in transforming growth factor-beta receptor 2.
Often, these patients have additional manifestations,
such as craniosynostosis, hypertelorism, and congenital heart malformations. Congenital Marfan syndrome
presents in the first 6 months of life. Loss of the central
coding region for the protein appears to result in this
more severe and potentially life-threatening form of the
disorder, whereas errors in C-terminal processing primarily cause only skeletal manifestations.
Developmental issues do not usually play a major
role in individuals with classic Marfan syndrome. The
majority have normal intelligence with no more than the
population incidence of learning disabilities, attentiondeficit/hyperactivity disorder, and seizures. However,
visual problems and fine motor issues due to joint laxity and arachnodactyly are often seen. It is very important to differentiate Marfan syndrome from a metabolic
phenocopy, homocystinuria, which may have many
similar skin and skeletal manifestations as well as dislocated lenses but is commonly found with learning
disabilities, attention-deficit/hyperactivity disorder, and
intellectual disability. This disorder is due to deficient
conversion of homocystine by the enzyme cystathionine
beta-synthetase, resulting in a buildup of methionine
that may be detected on newborn screening. Importantly, homocystinuria may be treated in part with diet
and vitamin therapy.
As with most genetic disorders involving proteins
that affect multiple organ systems, a multidisciplinary
approach is necessary for management of Marfan syndrome type 1. The American Academy of Pediatrics
guidelines recommend cardiac evaluation of all indi
viduals because early treatment with beta-blockers,
losartan, and early prophylactic surgery can be lifesaving.
Treatment with losartan has been shown to decrease
the aortic root dilation. Recommendations
for subacute
bacterial endocarditis prophylaxis have recently been revised by the American Heart Association (2007). Monitoring ophthalmologically can minimize complications
due to lens dislocation. Children and young adults must
be monitored closely with regard to sports, eye surgery
(such as Lasix surgery), and use of cardiac stimulants
even in over-the-counter cold preparations.
The fibrillinopathies must be differentiated between
Marfan syndrome type 1 with FBN1 mutations and
Marfan syndrome type 2 with transforming growth
factor-beta 2 receptor mutations because they are differ
ent disorders with at times a similar phenotype. The
support group is The National Marfan Syndrome Foundation, www.marfan.org, which sponsors both clinical
and research studies, or The Canadian Marfan Association, www.marfan.ca.
252
Achondroplasia
Achondroplasia is one of the classic short limb, short
stature (dwarfism) conditions. It was first described in
ancient Egypt around 4500 bce and in Ecuador around
500 bce. The Greek derivative achondroplasia means
without cartilage formation. In 1994, Rousseau and
colleagues described a unique mutation in the gene for
fibroblast growth factor receptor 3 (FGFR3) as the primary cause of achondroplasia. Clinical features include
short stature and rhizomelic (proximal) shortening of
the arms and legs. In infancy, there are redundant skin
folds over the long bones, lax hyperextensible joints, trident configuration of the fingers, bowed legs, and a thoracolumbar gibbus. Exaggerated lordosis is noted as the
child begins walking by 2 to 3 years of age. Individuals
with achondroplasia have absolute macrocephaly, frontal bossing with a prominent anterior fontanelle, and flat
nasal bridge. There is an evolution of phenotype with fetal age, with normal growth and skeletal proportions for
the first 20 weeks of intrauterine life, but disproportionate short stature often becomes apparent with bowed femurs by 30 to 33 weeks. Diagnosis may be suggested on
prenatal ultrasound examination and confirmed by finding the FGFR3 common mutation by amniocentesis. At
delivery, the infant is usually well grown, although disproportionate stature can be identified with an upper to
lower head to pubic bone/pubic bone to heel ratio greater
than 2 (normal in a term infant is 1.65). Special growth
curves for achondroplasia are helpful for monitoring
stature. In the first 12 months, the gibbus in the lumbar
region becomes more apparent, and in the first 2 years,
low muscle tone combined with lax joints and shortened
bones contribute to apparent gross motor delay. With
the flat nasal bridge and midface hypoplasia, there is
often eustachian tube dysfunction, leading to recurrent
otitis media and conductive hearing loss. This can have
an impact on speech development. A narrow foramen
magnum can cause communicating hydrocephalus
within the first year of life. Placement of a ventriculoperitoneal shunt and even foramen magnum decompression may be necessary in severe cases. By 4 years of age,
like their peers, most individuals with achondroplasia
have attained motor milestones, and no specific cognitive delay is expected. By 7 to 10 years of age, obesity
can become a major issue complicating orthopedic deformities, especially genu valgum. By midadolescence
and early teenage years, lumbar spinal stenosis and psychological issues about body image must be addressed.
Limb lengthening procedures are appropriate for some
teens.
The incidence of achondroplasia is between 1 in
15,000 and 1 in 40,000 live births. The FGFR3 gene is
at chromosome 4p16.3. One specific mutation occurs
in 98% of affected individuals (a G380R substitution
in nucleotide 1138). Hypochondroplasia, a milder variant, is due to other mutations in the FGFR3 gene that
permit better cartilage growth. Frequently, achondroplasia is sporadic and may be associated with advanced
paternal age. Homozygous mutations are lethal in
utero or in early infancy. Although most children with
achondroplasia are cognitively normal, developmental
issues may be seen. Lax joints and low muscle tone contribute to early apparent gross motor developmental delay. In addition, hydrocephalus due to narrowing at the
foramen magnum may lead to more generalized delays.
Short broad hands and lax joints often contribute to initial fine motor delays, and recurrent otitis media due
to eustachian tube dysfunction leads to chronic hearing
loss and can affect speech development. Psychological
problems stemming from body image issues complicated
by neurologic and musculoskeletal problems need to be
addressed.
Management guidelines include prenatal genetic coun
seling, with chorionic villus sampling, amniocentesis,
or cord blood sampling for mutation analysis if identification is made by ultrasound examination early or if
one of the parents has achondroplasia. A genetic skeletal survey in the newborn period often can confirm a
clinical diagnosis. Because up to 4% of individuals with
achondroplasia may die in the first year of a combination of obstructive and central apnea, early computed
tomography of the brain and measurement of the foramen magnum with follow-up magnetic resonance imaging and sleep study are recommended by 6 months
of age or earlier, depending on clinical symptoms such
as snoring, nighttime apnea, and extensor posturing.
Audiologic evaluation is repeated by 6 months, and
aggressive treatment of recurrent otitis media and neurosurgical, orthopedic, and pulmonary problems is performed as needed. Support groups include the Human
Growth Foundation at www.hgfound.org, Little People of America at www.lpaonline.org, and The Magic
Foundation at www.magicfoundation.org.
Autosomal Recessive
Metabolic disorders are covered extensively in Chapter 30.
Fanconi Anemia
Fanconi anemia (Fanconi pancytopenia) was first described in 1927 in Germany in a child with growth delay, mild dysmorphism, and bone marrow dysplasia.
The clinical features affect heart, kidney, bone, and
skin. Bone marrow failure may present with myelodysplastic syndromes, acute myelogenous leukemia, and
solid tumors in infancy or aplastic anemia in adulthood.
Affected individuals have an inordinate toxic reaction
to chemotherapy or radiation therapy, and the chance
of malignant change is approximately 25%. By 40
years of age, up to 80% of individuals may experience
bone marrow failure. There are many different phenotypes due to different genes and different mutations.
The in utero manifestation may resemble VACTERL
association (Vertebral anomalies, imperforate Anus, Cardiac, Tracheo-Esophageal fistula, Renal, and Limb). In
early childhood, there may be short stature with myelodysplasia, hyperpigmentation, developmental delay, and
characteristic facial gestalt with deep-set eyes. Adolescents or adults may present with simple myelodysplasia
or malignant disease. Fanconi anemia occurs in approximately 1 in 100,000 live births with a carrier frequency
for the general population in the United States, Europe,
and Japan of about 1 in 300. Anumber of genes including
FANCA, FANCB, FANCC, and many others have been
X-Linked Disorders
There are about 400 X-linked genes causing developmental problems, intellectual disability, or autism spectrum disorder. Fragile X is the most common form of
an inherited intellectual disability in girls and boys and
presents with clinical phenotype due to a trinucleotide
expansion, in CGG, in the FMR1 gene. This syndrome
is covered in great detail in Chapter 24. Other linked
genes, such as the gene for Rett syndrome and the
UBE3A that causes Angelman syndrome, have recently
been described to modify imprinting of other genes.
Rett Syndrome
Rett syndrome (Classic Rett syndrome) occurs in females, whereas variant or atypical Rett syndrome and
a pattern of neonatal encephalopathy with mental retardation occur in males. Clinical features of the classic form in females include acquired microcephaly,
dysfunctional handwashing movements, and seizures
by 3 years of age in 90%. There is an evolution of the
phenotype with normal birth parameters and development for the first 6 to 9 months, failure of developmental progress between 9 and 16 months with a potential
for seizures, and progression to acquired microcephaly,
dysfunctional hand movements between 2 and 3 years,
and autistic-like features with loss of speech, language,
and social interactions between 2 and 3 years. Between
5 and 7 years of age, there is often a latent period with
plateauing or potential improvements in milestones and
communication. Scoliosis, growth delay, and small cold
hands and feet by adolescence provide evidence for progressive deterioration of autonomic function. Individuals
with variant or atypical Rett syndrome may have behavioral and cognitive impairment without the characteristic
natural history. The prevalence in females is 1 in 8000
to 10,000. The gene MECP2 (methyl CPG binding
253
Trinucleotide Expansions
Myotonic Dystrophy, Type 1 (DM1)
Myotonic dystrophy affects muscle, brain, eye, and
heart. Mild DM1 expression may begin in the mid-20s
with myotonia and cataracts. Classic DM1, however,
presents with distal muscle weakness and wasting, myo
tonia, cataracts, male pattern balding, cardiac arrhythmias, and often learning problems. There is a tendency
for diabetes mellitus in adults, and women have increased miscarriages and complications of labor and delivery. The most severe form, congenital DM1, presents
with profound hypotonia in the newborn period, respiratory distress requiring ventilatory support, and macrocephaly; 25% may suffer neonatal death. Survivors have
254
Costello Syndrome
Costello syndrome (fasciocutaneous skeletal syndrome)
is due to a germline mutation in an HRAS gene that
normally causes cancer when it is affected by somatic
mutations. Costello syndrome was initially described by
Costello (1977) with mental subnormality and nasal
papillomata. Clinical features include dysmorphic facies with epicanthal folds, depressed nasal bridge, broad
mouth and coarse features, normal head circumference but short stature, developmental delay, and intellectual disability with cutis laxa and deep soft creases
in the palms and soles (Figs. 26-7 to 26-9). Cardiac
255
MULTIFACTORIAL CONDITIONS
Cleft Lip and Palate
Cleft lip with or without cleft palate is usually due to
multiple genes and often unknown environmental factors. Incidence of cleft lip with or without cleft palate
is 1 in 1000 live births. There are more than 500 different syndromes that may be associated with clefting.
Cleft lip is more common among Asian (1.7 per 1000)
and American Indian (3.6 per 1000) live births. It is
less common than average in African Americans at 1
in 2500. Males are more frequently affected than are
females. Cleft palate with or without cleft lip occurs in
approximately 1 in 2000 births and is more common in
females. Cleft palate is more likely than cleft lip to have
256
CHARGE Syndrome
CHARGE syndrome (CHARGE association or HallHittner syndrome) is an acronym for the combination of
coloboma, heart anomaly, choanal atresia, retardation,
and genital and ear anomalies. Clinical features include
ocular coloboma that can be peripupillary, iris, retinal,
macular, or nerve; choanal atresia or stenosis; cranial
nerve dysfunction; and characteristic small, posteriorly
rotated, cupped simple ears. It is uncommon for a child
to have all manifestations of this association. The term
CHARGE should be restricted to infants with at least
three major malformations including choanal atresia
or coloboma combined with cardinal malformations,
heart, ear, and genital. Growth retardation, especially
low birth weight, should not be used in the definition.
The incidence of CHARGE syndrome is approximately
1 in 10,000, and gene localizations include chromosomes 8q12.1 and 7q21.1. The gene CHD7, chromodomain helicase DNA binding protein, at 8q21.1 is known
to be associated with CHARGE syndrome, but other
genes are no doubt also involved. The basic genetic
mechanism, however, continues to be described as multifactorial because although the gene may be inherited
in a dominant fashion, there are many other genes as
well as known and unknown environmental factors that
affect the expression of those genes. Diagnostic testing
should include at least CGH array with high-resolution
banded chromosomes, although most individuals will
have normal results with these tests. Sequence analysis
of CHD7 coding region detects mutations in 60% to
65% of individuals. Large CHD7 deletions, however,
are uncommon. CHD7 sequencing is possible and can
be valuable for preconception counseling and prenatal
diagnosis when the result is positive.
Most children with CHARGE association have delayed
milestones and hypotonia. Development is complicated
by dual sensory vision and hearing impairment as well
as by vestibular dysfunction. Management in neonates
Teratogens
Fetal Alcohol Syndrome
Refer to Chapter 31.
Maternal Diabetes
There are specific effects of maternal glucose concentration and glucose intolerance that correlate with the three
stages of alcohol embryopathy, depending on the timing
of exposure: alcohol-related birth defects, fetal alcohol
exposure, and fetal alcohol syndrome. First-trimester
glucose intolerance can result in malformations, especially congenital heart defects. Maternal glucose intolerance in the second trimester can result in central nervous
system, brain development, developmental, and learning
issues. Third-trimester maternal glucose intolerance results in the classic infant of a gestational diabetic mother.
Maternal glucose intolerance is becoming identified as a
teratogen regardless of whether the mother has diabetes mellitus or is identified at 28 weeks to have gestational diabetes during gestation. Some birth defects may
be due to first-trimester hypoglycemia in women with
only a familial history of diabetic tendency. This can
be evidently severe in infants with malformations when
there is maternal obesity or genetic predisposition in a
family, such as deletion 22q11.2. The Web site for the
American Diabetes Association is www.diabetes.org.
REFERENCES
Abruzzo MA, Erickson RP: A new syndrome of cleft palate associated
with coloboma, hypospadias, deafness, short stature, and radial
synostosis. J Med Genet 14:76-80, 1977.
American Heart Association, Wilson S, Taubert KA, Gewitz M, et al:
Prevention of infective endocarditis. Guidelines from the American Heart Association: A Guideline from the American Heart
Association Rheumatic Fever, Endocarditis, and Kawasaki Disease
Committee, Council on Cardiovascular Surgery and Anesthesia,
and the Quality of Care and Outcomes Research Interdisciplinary
Working Group. Circulation 116:1736-1754, 2007.
257
27
NEURODEVELOPMENTAL
CONSEQUENCES OF
PRETERM BIRTH: CAUSES,
ASSESSMENT, AND
MANAGEMENT
Mary Leppert and Marilee C. Allen
deficit, visual-perceptual impairment, minor neuromotor dysfunction, and fine motor difficulties (Behrman
and Butler, 2007). Among children who were born
before term, the proportion of survivors with cerebral
palsy, cognitive impairment, school problems, specific
learning disabilities, visual impairment, and multiple
disabilities increases as gestational age and birth weight
decrease.
Although they represent just 12% to 13% of U.S.
births, preterm infants account for 64% to 75% of infant
deaths, 42% to 47% of children with cerebral palsy, 27%
of children with cognitive impairment, 37% of children
with visual impairment, and 23% of children with hearing impairment (Alexander, 2007; Behrman and Butler,
2007; Dolk, Pattenden, and Johnson, 2001). Although
infants with birth weight below 1500 g represent only
1% to 2% of U.S. births, they account for 47% of infant
deaths, 22% of children with cerebral palsy, and 36% of
infant hospital costs. Estimated special education costs
attributed to preterm birth, beyond the cost of educating a child born full term, total $611 million per year, or
$2237 per preterm survivor. The economic burden associated with preterm birth is staggering: $26.2 billion
for the United States in 2005 or $51,600 per infant born
before term (over the costs for a full-term infant), a conservative estimate by the Institute of Medicine (Behrman
and Butler, 2007).
260
Definitions
Because of the lack of reliable indicators of gestational age
or date of conception during the 19th and early 20th centuries, infants were referred to in terms of birth weight,
which is easily and reliably measured. Until the 1960s,
prematurity was synonymous with low birth weight (birth
weight below 2500 g). Approximately one third of lowbirth-weight infants are full-term infants with intrauterine growth restriction, which challenges the validity of
low birth weight as a proxy for prematurity (Alexander,
2007). Although an individual infant may be both, distinguishing prematurity from intrauterine growth restriction is important in determining causes, risk factors, and
health and neurodevelopmental outcomes.
Individual variation in fetal growth becomes more
prominent during the third trimester. When they plotted
birth weight by gestational age for their population of
newborns, Battaglia and Lubchenco (1967) discovered
differences in mortality and morbidity among infants
who were small, appropriate, or large for gestational age.
By the third trimester, many biologic and environmental
factors influence fetal growth, including race or ethnicity,
gender, multiple gestations, maternal drugs, environmental toxins, maternal illness, uteroplacental insufficiency,
and congenital infections.
Although they are highly correlated and often thought
of as interchangeable, pregnancy duration, infant size,
and maturity are distinctly different concepts. There
is a biologic continuum not only in birth weight for
gestational age but also in degree of maturity for age or size
(Allen, 2005). Just as a 12-year-old child can be tall or
short for age, he or she can be more or less mature compared with other 12-year-olds. Not only may an individual
infant born at 24 weeks of gestation be small, appropriate, or large for gestational age, but there is similar variation in physical and neurologic maturity for 24 weeks of
gestation.
The traditional method of determining gestational age
and a mothers due date (estimated date of confinement)
was calculated from the first day of the mothers last
menstrual period. Timing of ovulation, fertilization,
and implantation has generally been unknown for the
majority of women. Clinical indicators of fetal growth
(e.g., fundal height) and development (e.g., detecting
fetal heart tones or quickening, feeling fetal movement)
could corroborate the mothers due date. The conventional definition of gestational age at birth is the time
interval between the mothers last menstrual period
and delivery, which includes approximately 2 weeks
before conception. Wide variations in menstrual cycle
timing (as much as 7 to 25 days) during a womans
childbearing years and among women account for much
of the uncertainty surrounding gestational age. Even when
assisted reproductive technologies precisely determine
when fertilization and implantation occur, obstetricians
use the traditional definition and add 2 weeks when
determining gestational age.
Etiologies
Preterm birth is not a disease or a syndrome but a
common complex condition with multiple interrelated
overlapping factors that lead to several final common
pathophysiologic pathways (Behrman and Butler, 2007).
Preterm birth results from multiple gene-environment
interactions that involve both maternal and fetal genomes, the intrauterine environment, and the mothers
body and her external environment. Among different
populations, there are considerable variations in preva
lence of risk factors as well as preterm birth rates.
Risk factors include individual-level behavioral and
psychosocial factors, neighborhood social characteristics,
environmental exposures, maternal medical conditions,
assisted reproductive technologies, biologic factors, and
genetics. Some factors originate at or before conception. The presence of multiple risk factors is highest in
women of low socioeconomic or minority status. A reflection of exposure to infection and antigens as well
as maternal and fetal immune responses, inflammation
appears to play an important role in one or more patho
physiologic pathways for preterm birth. Multiple gestations often result in preterm birth (i.e., 50% of twins,
90% to 100% of higher order multiples), presumably
because of uterine overdistention and limitation of uteroplacental resources.
Unfortunately, differentiation of preterm births by
clinical presentation raises more questions than provides
answers (Alexander, 2007; Behrman and Butler, 2007).
Approximately 50% of preterm infants are born after
261
262
HEALTH OUTCOMES
Neonatal complications of prematurity are due to immature organ systems and organ injuries caused by
conditions that contributed to preterm birth, delivery complications, or interventions required to sustain
extrauterine life. The smallest and most immature infants
are most vulnerable to all the complications of prematurity. The most common acute complication is respiratory distress syndrome, which can lead to chronic lung
disease (also known as bronchopulmonary dysplasia).
Inflammation and cytokine injury have been implicated
in the pathogenesis of chronic lung disease, brain white
matter injury, retinopathy of prematurity, and necrotizing enterocolitis. Preterm infants are vulnerable to infection, and antibiotics are often started at the first signs of
acute or subacute deterioration. Necrotizing enterocolitis,
retinopathy of prematurity, apnea and bradycardia, anemia, and brain injury (including intraventricular hemorrhage, hydrocephalus, infarction, and white matter
injury) are also complications of prematurity. Feeding
intolerance, gastroesophageal reflux, and concern about
Visual Impairment
Retinopathy of prematurity is a vascular disorder of the
retina with a multifactorial etiology, primarily due to
immaturity. The retina is one of the last organs to be
vascularized during fetal development, so retinopathy
of prematurity is highest in the most immature and sick
preterm infants. Retinopathy of prematurity occurs in up
to 50% of infants with birth weight below 1000 g and
in up to 90% with birth weight below 750 g (Behrman
and Butler, 2007). The peak onset for threshold disease
is 38 weeks postmenstrual age, and involution begins
by 44 weeks postmenstrual age. Severe retinopathy of
prematurity that requires laser surgery occurs in 10%
of infants born before 28 weeks of gestation and in up
to 40% of infants born before 26 weeks of gestation.
Timely diagnosis and effective treatments have improved visual outcomes, so that only 1% to 2% of infants born before 26 to 27 weeks of gestation and 4% to
8% born at or before 24 weeks of gestation have severe
visual impairment. Ophthalmologic follow-up is recommended until involution is complete and in all children
with severe retinopathy of prematurity (for signs of
late sequelae, including retinal detachment, cataracts,
and angle-closure glaucoma).
Strabismus, amblyopia, and visual acuity problems
(especially myopia) are more frequent in children born
before term than in their peers born full term, with
the highest risks in children with severe retinopathy of
prematurity (Behrman and Butler, 2007). In a study that
Hearing Impairment
Severe hearing impairment occurs in 1.5% to 9% of
children born before 26 weeks of gestation or with
birth weight below 1000 g (Behrman and Butler, 2007;
Doyle and Casalaz, 2001; Hack et al, 2000). Moderate
to severe hearing impairment interferes with language
acquisition and speech; early detection and treatment
improve language and functional outcomes. Progressive
hearing impairment has been reported in infants with
congenital cytomegalovirus infection or persistent pulmonary hypertension. Some children born before term
have difficulty with auditory processing and auditory
discrimination, which influences their academic progress
and behavior.
NEURODEVELOPMENTAL OUTCOMES
Antenatal Brain Development
The development of the fetal central nervous system
(CNS) is a precise and timed process that is vulnerable to
insult from a multitude of influences. Antenatal insults
can, in turn, influence the integrity of the maternalfetal dynamic or the timing and position of the infant at
delivery. In a monograph on infantile cerebral paralysis
written more than 100 years ago, Sigmund Freud stated,
It may well be possible that the same pathogenic factors
that rendered intrauterine development abnormal also
extend the influence to parturition; abnormal birth is the
final result of an abnormal pregnancy (Freud, 1897).
Genetic, toxic, metabolic, and infectious factors can increase risk of both preterm delivery and fetal brain injury
or malformation. The fetus with CNS anomalies has a
higher risk of preterm birth, problems at delivery, and
postnatal complications that include feeding problems,
and each can further compromise neurologic development. The nature and extent of antenatal and perinatal
brain injury depend on the etiology, extent, and timing
of the insult. Little is known about how to promote
recovery from brain injury.
Many genetic and metabolic factors influence fetal
brain development. Gross structural brain malformations
are seen in a number of genetic or chromosomal disorders (e.g., lissencephaly in Miller-Dieker syndrome, holoprosencephaly in trisomy 13). Other genetic disorders
produce cognitive deficits without easily recognizable
anatomic brain anomalies (e.g., Down syndrome).
Disruption sequences and malformations (e.g., septooptic dysplasia or DiGeorge sequence) account for a
number of structural and functional brain anomalies.
Metabolic abnormalities (also genetically determined)
can cause serious developmental impairments after birth,
263
but these infants are often protected in utero by maternal metabolic competence, as is the case with congenital
hypothyroidism.
Antenatal exposures to infections or toxins can significantly influence fetal brain development. Maternal
TORCH infections at vulnerable periods of fetal
development have teratogenic effects on the fetus, with
significant structural anomalies (e.g., hydrocephalus
with Toxoplasma gondii infection, microcephaly with
rubella and cytomegalovirus infection). There is evidence
that maternal bacterial infections (e.g., urinary tract
infections, chorioamnionitis) put the fetus at risk for neurologic impairment through inflammatory mechanisms.
Fetal alcohol exposure carries a relatively high risk for
cognitive, language, and learning impairments and is
occasionally associated with structural brain anomalies
(e.g., heterotopias). Prenatal exposure to some anticonvulsants (e.g., dilantin, valproate) and anticoagulants
(e.g., warfarin, coumadin) also influences fetal brain
development.
Maternal illness (e.g., chronic hypertension, preeclam
psia), placental insufficiency, and cord problems (e.g.,
cord prolapse or knot) can lead to preterm delivery,
compromised fetal brain development, or both. Thrombosis due to primary maternal clotting disorders (e.g.,
factor V Leiden deficiency) can compromise fetal brain
structural and functional development. Preterm delivery,
congenital malformations, intrauterine growth restriction, cord accidents, and obstetric problems are more
common in multiple gestations.
264
Cerebral Palsy
Whereas the prevalence of cerebral palsy in the general
population is only 0.1% to 0.2% (1 or 2/1000 live births),
multiple studies demonstrate increasing prevalence of
cerebral palsy with decreasing birth weight and gestational age categories (Amiel-Tison et al, 2002; Behrman
and Butler, 2007; Keogh and Badawi, 2006). In a recent
report from Sweden, the prevalence of cerebral palsy was
only 1.1/1000 live births for children born full term but
6.7/1000 live births for children born at 32 to 36 weeks
of gestation, 40.4/1000 live births for children born at
28 to 31 weeks of gestation, and as high as 76.6/1000
live births for children born before 28 weeks of gestation
(Himmelmann et al, 2005). There was a similar stepwise
increase when prevalence of cerebral palsy was calculated by birth weight category: from 1.2/1000 live births
for birth weight above 2500 g, to 6.7/1000 for birth
weight of 1500 to 2500 g, to 54/1000 for birth weight
of 1000 1499 g, and to 82/1000 for birth weight below
1000 g. Dramatic improvements over time in survival of
preterm infants of all gestational ages offset relatively
small temporal changes in gestational agespecific rates
of cerebral palsy (Behrman and Butler, 2007).
Many preterm outcome studies report the rate of
cerebral palsy in preterm survivors, and this distinction
is important in the smaller and most immature infants
who have high mortality rates. Reviews of preterm outcome studies estimated that cerebral palsy developed
in 7.7% of infants with birth weight below 1500 g
and 10% of infants with birth weight below 1000 g
(Bracewell and Marlow, 2002; Escobar, Littenberg, and
Petitti, 1991). Most recent studies corroborate the observation of higher cerebral palsy rates with decreasing
gestational age or birth weight categories: 11% to 12%
in children born at 27 to 32 weeks of gestation, 7% to
20% in children born before 26 or 27 weeks of gestation,
Neuromotor Abnormality
Although many preterm infants demonstrate neuromotor
abnormalities on examination during their first year,
only a small proportion develop cerebral palsy. As early
as 1972, Drillien described a constellation of abnormal
neurologic findings (increased neck, trunk, and lower
extremity extensor tone; increased hip adductor tone;
neck and trunk hypotonia; persistent primitive reflexes)
that was called transient dystonia because of resolution during infancy (Drillien, 1972). In a longitudinal
study of dystonia in preterm infants, only 12% who
had dystonia at 7 to 9 months developed cerebral palsy
(and 83% with severe neurologic abnormalities developed cerebral palsy) (Pedersen et al, 2000). As many as
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Academic Achievement
Executive Dysfunction
The cognitive, metacognitive, and behavioral skills
that are required to organize purposeful goals are collectively referred to as executive function. These skills
266
Attention-Deficit/Hyperactivity Disorder
The diagnosis of attention-deficit/hyperactivity disorder (ADHD) is somewhat subjective, and unrecognized
cognitive impairments and learning disabilities make it
difficult to assess the effect of preterm birth on child
behavior. Although it is not a universal finding, a number of studies report a 2- to 6-fold increase in ADHD
symptoms in school-age children with birth weight below 1000 or 1500 g compared with full-term controls
(Aylward, 2002, 2005; Behrman and Butler, 2007;
Bhutta et al, 2002; Saigal et al, 2001). Another study
found that children with ADHD were 3.1 times more
likely than children without ADHD to have been born
with birth weight below 2500 g (Mick et al, 2002).
The cumulative effect of slightly lower cognitive po
tential, more difficulty with executive function, increased likelihood of learning disability, and ADHD
behaviors can have profound academic consequences.
Academic achievement for these children may require
tutoring, coaching of study strategies and organizational
skills, behavior modification, and classroom modification. Pharmacologic intervention for attention deficits
requires weighing of academic and social benefits against
the childs health status, nutrition, and growth.
NEURODEVELOPMENTAL SUPPORT
AND FOLLOW-UP
Neurodevelopmental Support in the Neonatal
Intensive Care Unit
Preterm infants in a neonatal intensive care unit (NICU)
are exposed to multiple medical procedures and overwhelming sensory stimuli, and these influence neuromaturation just as the intrauterine environment influences
fetal neuromaturation. Strategies for providing support
for preterm neuromaturation include minimizing procedures, pain management, decreasing sensory input
overload, involving parents in their infants care, encouraging mothers to provide breast milk, modifying
nursing routines according to the infants needs, paying careful attention to how an infant is positioned
and supported, and facilitating non-nutritive sucking
(Aucott et al, 2002; Behrman and Butler, 2007). As long
as they are contingent on infant responses, interaction
with the infant and gentle stimulation can be beneficial.
This requires recognition of signs of stress and distress.
Kangaroo care, which involves skin-to-skin contact as
the naked infant is positioned upright on a parents
chest, originated in South America but has been adopted
in many NICUs in the United States. Als Neonatal Individualized Developmental Care and Assessment Program (Als, 1998) is a highly organized comprehensive
system for supporting preterm infants in the NICU that
has generated widespread interest. There are limited
data on short-term benefits for each of these intervention strategies, but further research is needed to assess
long-term outcomes.
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SUMMARY
Prematurity is an important but complex public health
problem that will not be easily solved. Preterm birth results from multiple causal pathways with multiple interrelated biologic, psychosocial, and environmental risk
factors that vary in frequency among different populations. Despite medical and technologic advancements
that have led to dramatic improvements in preterm survival and lowering of the limits of viability, there have
been no concomitant improvements in sequelae, and the
preterm birth rate is rising, not falling.
Children born before term have higher rates of health
sequelae, developmental disabilities, and functional impairments than do children born full term. Despite this,
most preterm survivors do not have major disabilities
and are functional as adults. The more immature the
infant, the higher the risk of disability and impairment,
and the more severe the sequelae tend to be. An inherent
limitation of neonatal follow-up literature is an obligatory time lag: there is no way to know how the preterm
survivors we are now caring for in our NICUs will do
during childhood or as adults.
Costs incurred by providing high-risk obstetric care,
neonatal intensive care, and developmental and educational support during childhood would be better spent
preventing preterm births. This requires a focused multidisciplinary research approach, with sustained, stable
funding, to better understand mechanisms of preterm
birth and how various genetic, psychosocial, and environmental risk factors influence these mechanisms.
Until prevention of preterm birth is feasible, effective
treatment strategies need to be developed to prevent
injury to the brain and other organs and to support
ongoing neuromaturation and recovery from injury.
REFERENCES
Alexander GR: Prematurity at birth: Determinants, consequences,
and geographic variation. Appendix B. In Behrman RE, Butler
AS, (eds): Preterm Birth: Causes, Consequences, and Prevention.
Institute of Medicine Committee on Understanding Premature
Birth and Assuring Healthy Outcomes, Washington, DC, National
Academies Press, 2007.
Allen MC: Preterm outcomes research: A critical component of neonatal
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28
HUMAN IMMUNODEFICIENCY
VIRUS INFECTION IN
CHILDREN
Sharon Nichols and John Farley
EPIDEMIOLOGY
More than 2 decades have passed since the clinical
syndrome now known as acquired immune deficiency
syndrome (AIDS) was first described and ultimately demonstrated to be caused by the human immunodeficiency
virus type 1 (HIV-1) retrovirus. The syndrome was described in children in urban areas of the United States
in the early 1980s, with abnormalities in child development a hallmark of the disease. Presently worldwide, at
least 1500 infants are born each day with perinatally
transmitted HIV infection (World Health Organization,
2006). Whereas interventions to prevent mother-to-child
transmission have resulted in a dramatic reduction in
the number of infected infants in developed country settings, the challenge of the massive program development
required has limited the impact of efficacious interventions in resource-limited settings.
Through 2005, more than 9000 cases of children
in the United States with AIDS were reported to the
U.S. Centers for Disease Control and Prevention. The
most common risk factor is mother-to-child transmission (92.9%), and the second is receipt of contaminated
blood or blood products (6.6%) (Centers for Disease
Control and Prevention, 2005). Less commonly, cases
in children have also been ascribed to sexual abuse,
mucous membrane exposure to blood, and exposures
such as to contaminated needles in the health care setting. Black non-Hispanic and Hispanic children are affected disproportionately in the United States. Among
women of childbearing age, injection drug use is a common risk factor for HIV infection but remains second
to heterosexual transmission. HIV-infected women are
less likely to receive prenatal care than are women in
the general population, and HIV-affected families in the
United States are more likely to be poor. Thus, perinatally infected children may have multiple risk factors for
developmental and behavioral problems. An increasing
number of adolescents acquire HIV infection sexually or
through injection drug use. Because of major improvements in the care of children with perinatally acquired
HIV disease in the United States (Gortmaker et al, 2001),
most will survive through adolescence. Thus, additional
behavioral issues common to adolescents with chronic
illness, such as maintaining adherence to therapy, are a
growing challenge.
270
Table 28-1. Categories of Immune Suppression among HIV-Infected Children Based on Age-Specific CD4+ Cell
Counts and Percentage
Immune Category
Category 1: no suppression
Category 2: moderate suppression
Category 3: severe suppression
<12 Months
1-5 Years
6-12 Years
No./
m
m3 (%)
No./mm3 (%)
No./mm3 (%)
>1500
750-1499
<750
(>25)
(15-24)
(<15)
>1000
500-999
<500
(>25)
(15-24)
(<15)
>500
200-499
<200
(>25)
(15-24)
(<15)
Centers for Disease Control and Prevention: 1994 revised classification system for human immunodeficiency virus infection in children <13 years of age. MMWR
Morb Mortal Wkly Rep 43(RR-12):1-19, 1994.
PSYCHOSOCIAL ISSUES
Despite advances in treatment of HIV in children, the
psychosocial issues associated with the disease continue to be tremendous. In the United States and other
countries where HAART is widely used, HIV is now
treated as a chronic illness more than as a terminal
one. Although this is obviously a welcome change, the
treatment of chronic illnesses carries a different and significant burden for patients and their providers. This is
particularly true for adolescents, who may focus on the
short-term problems associated with treatment side effects over the long-term importance of viral control. Issues of treatment adherence are especially significant for
this population and are discussed in detail later.
The use of HAART has succeeded in preventing
many of the physical complications of HIV in children
and in other members of their families. However, these
children and their families continue to face significant
psychosocial and emotional issues. Families affected
271
Neurodevelopment
HIV infection in childhood, particularly when the virus
is perinatally acquired, can have devastating effects on
central nervous system functioning. Encephalopathy was
recognized early in the epidemic as a significant aspect
of HIV disease that is particularly common in children
(Mitchell, 2001), especially infants (Tardieu et al, 2000).
Although opportunistic infections of the brain due to
immunodeficiency are less common in children than in
adults, the virus itself can enter the central nervous system. There, it is thought to affect central nervous system
functioning indirectly, primarily by infection of microglia and macrophages and resulting release of neurotoxic
products rather than by infection of neurons themselves.
Significant nervous system side effects, such as peripheral neuropathy, fatigue, and depression, can also be associated with medications used to treat HIV infection.
Before antiretroviral medications were developed and
came into wide use, it was not uncommon for infants
with perinatally acquired HIV infection to develop a
severe, progressive HIV encephalopathy (PHE). This
was characterized by a prominent motor component,
with bilateral pyramidal tract signs and eventual spastic diplegia; loss of developmental milestones; decreased
emotional expressiveness; and, in some cases, focal neurologic signs. Neuroimaging revealed poor brain growth
and resulting microcephaly and calcification of the basal
ganglia. Belman and colleagues (1988) noted three common disease courses: a rapidly progressive encephalop
athy leading to death, a subacute but nonetheless steadily
progressing course, and a static or plateau profile with
272
AIDS-defining illness were similar to uninfected children, with both groups receiving test scores in the average range. The rate of change between the two time
points did not differ between the groups. Thus, the
HIV-infected children who experienced early, significant illness displayed global impairment but continued
to develop, albeit at a consistently lower level than for
the children in the other groups.
In summary, the current literature suggests that in
the age of HAART, neurodevelopmental problems in
children with perinatally acquired HIV infection are
relatively subtle, compared with matched controls, until
significant immunocompromise has occurred, at which
time progressive encephalopathy can still occur. Mild
global impairment has been well documented; more specific deficits can occur in a variety of areas but have been
most commonly observed in language and fine motor
skills. More severe motor impairments, including spastic diplegia, and global cognitive decline are seen with
progressive encephalopathy. In examining a child with
HIV infection, particularly one with well-controlled
disease, the pediatrician should bear in mind that the
child may be subject to numerous other developmental
risks that are common in this population. These include
low socioeconomic status, educational disadvantage,
family disruption and loss of caregivers, parental and
environmental substance abuse, coinfection with cytomegalovirus and other congenital infections (possibly
with associated hearing deficits), side effects of medications, prenatal exposure to drugs and alcohol, and birth
risks such as prematurity and low birth weight. Studies
are currently being conducted to determine if prenatal
exposure to antiretrovirals places the child at risk for
developmental problems. Fatigue and depression due to
HIV infection or antiretrovirals can have an impact on
concentration, psychomotor speed, and other aspects of
cognitive functioning. Referral for neuropsychological
testing, neurologic evaluations, and neuroimaging can
help disambiguate whether the childs cognitive impairments are related to HIV infection and thus indicate a
need for treatment changes. It can also clarify whether
interventions are needed.
Regardless of the cause of a perinatally infected childs
cognitive impairment, the pediatrician must be aware
of the possibility of significant service needs. Referrals
for early intervention services, including occupational,
physical, and speech therapy, are frequently necessary
for infants and preschool children affected by HIV infection. As they get older, a disproportionate number
of the children qualify for special education services.
Chiriboga and associates (2005) noted that children in
their study who had arrested PHE and significant improvement of cognitive symptoms nevertheless had a
high rate of placement in special education (71%). Even
children in that study who had never been diagnosed
with PHE had a 24% rate of special education placement. The American Academy of Pediatrics (2000) made
the point that pediatricians should be familiar with federal and state special education laws to assist families
and make appropriate referrals for HIV-infected children with special education needs. For example, the federal Individuals with Disabilities Education Act provides
MEDICAL MANAGEMENT
In addition to prophylaxis to prevent some opportunistic infections among severely immunosuppressed
children, antiretroviral therapy is the mainstay of medical management. As of September 2006, there were 22
antiretroviral drugs approved for use in HIV-infected
adults and adolescents in the United States. Thirteen of
273
Table 28-2. Distinct Adverse Drug Effects Most Common with Certain Antiretroviral Drugs or Drug Classes
Antiretroviral Drug or Drug Class
Zidovudine
Working Group on Antiretroviral Therapy and Medical Management of HIV-Infected Children: Guidelines for the Use of Antiretroviral Agents in Pediatric HIV
Infection. 2006. Available at: http://www.aidsinfo.nih.gov/guidelines.
274
ADHERENCE TO THERAPY
Nonadherence is well established as a major cause of
clinical failure of HAART, and intermittent nonadherence is a particular problem. Studies in adults have demonstrated that more than 95% adherence to HAART is
necessary for durable suppression of viral load (Miller
and Hayes, 2000). In the presence of selective pressure by antiretroviral agents, high rates of viral replication and viral mutation lead to the development of
drug resistance. Mutations conferring resistance against
one antiretroviral agent often confer cross-resistance to
other agents. Thus, poor adherence can render a whole
class of antiretrovirals ineffective.
A person with a chronic illness must adhere to a medical regimen even though there is no cure, often in the
absence of visible symptoms. While our understanding
of HIV therapy is evolving, lifelong treatment is likely
to be required. Pediatric chronic illness presents many
unique adherence challenges. Caregivers are responsible
for the adherence of children and so have a profound impact on adherence. Children living in families in which
the adult caregiver is ill, is subject to significant stress,
lacks effective organizational skills, lacks social support,
or is not motivated to administer medications will have
a high risk of nonadherence. Use of outreach staff to
provide additional support for families with such challenges may enhance adherence. Adherence of children to
complex medical regimens is influenced by the parents
or caregivers knowledge of the illness, understanding
of the therapeutic recommendations, and duration of
treatment (Parrish, 1986). Providers need to emphasize
SUMMARY
Although advances in medical management have reduced
the likelihood of many of the more severe sequelae of
HIV infection in children and youth, significant behavioral and developmental challenges remain. Although
HIV-affected families in the United States are disproportionately affected by poverty and substance abuse,
all HIV-infected children commonly face emotional and
psychosocial issues such as fear of death, death or change
of parent or caregiver, anxiety, secrecy, and isolation.
Physical development may be affected by the disease
or its treatment. Although antiretroviral treatment has
decreased the incidence of progressive encephalopathy,
subtle neurodevelopmental problems are common and
often require service referral. A high rate of psychiatric
and behavioral disorders has been reported, and drug interactions between some antiretroviral agents and some
psychotropic medications need to be considered. Poor
adherence to antiretroviral therapy must be addressed
because it is the major cause of treatment failure and
may limit future therapeutic options.
275
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29
NUTRITION ASSESSMENT
AND SUPPORT
Marilyn Stevenson and Nancy F. Krebs
GROWTH ASSESSMENT
Growth assessment typically and most readily includes
weight, length (or height for children older than 2 years),
and head circumference measurements. These are plotted on National Center for Health Statistics growth references (www.cdc.gov/growthcharts), which are based
on cross-sectional samples of infants and children in the
United States (Kuczmarski et al, 2000). Detailed guidelines for procedures to obtain accurate anthropometric
measures are available through the Centers for Disease
Control and Prevention Web site, http://www.cdc.gov/
nchs/data/nhanes/nhanes_03_04/BM.pdf.
Because the growth patterns of children with special
needs are often abnormal compared with usual references, often falling below the 5th percentiles for weight
and height, particular care must be given to the assessment of patterns of growth and rates of growth. A
steady pattern of growth well below the 5th percentile
may be less cause for concern than a deceleration of
growth from the 75th to 25th percentiles. Although the
term growth is often used nonspecifically, distinction
is appropriately made between weight gain and linear
growth, both of which are interrelated but not equally
responsive to nutritional deprivation or manipulation.
Weight represents the composite of energy reserves (i.e.,
fat) and lean body mass and body water. Linear growth
reflects musculoskeletal growth and is governed by
many non-nutritional factors, including endocrinologic
and genetic influences, making it somewhat less modifiable by nutritional intake.
Proportionality of weight to length or height is another indicator of nutritional adequacy. Body composition may be altered by the underlying condition. This
includes especially muscle mass, which is often abnormal if a child is nonambulatory or hypotonic. Although
extremes of undernutrition may have an impact on
muscle bulk, disuse will generally have a more profound
277
278
impact. Thus, in such cases, total weight must be considered in the context of body composition. Similarly,
microcephaly can contribute to low total weight, especially in an infant or young child, when the size of the
head is relatively large compared with the rest of the
body. Brain growth, represented by head circumference,
may also be primarily influenced by non-nutritional factors. Use of the weight for length (or body mass index
graphs for children older than 2 years) gives an indication of whether the child is gaining in weight proportional to linear growth. Ideal weight for length is the
weight at the 50th percentile (median) for a given length
on the weight/length chart. Normal weight range for a
given length is considered to be within 10% (above and
below) of the median.
Head circumference should be measured, plotted
on age- and sex-adjusted references, and compared
with weight and length or height for age percentiles.
An exceptionally large head, as with hydrocephalus,
may contribute disproportionately to weight and give
false interpretation to adequate weight gain or weightto-length assessment. Alternatively, microcephaly will
also affect total weight, and weight status should be interpreted accordingly. As noted, muscle mass is often
disproportionately low in children with special needs
(e.g., those with Down syndrome or untreated PraderWilli syndrome). Children with conditions such as cerebral palsy or fetal alcohol syndrome often have low fat
stores, reflecting relative inadequacy of energy intake or
an inherent lean body habitus. Assessment of body composition by measurement of skin fold thickness (with
skin calipers) to estimate subcutaneous fat stores and
arm circumference to estimate muscle body mass may
be very useful in interpreting body weight and adequacy
of energy and fat stores.
Adjustment for prematurity is typically made for the
first 24 months of corrected age and gives a more accurate perspective of absolute weight and length measurements. For example, an infant born at 28 weeks of
gestation would be plotted at an adjusted age 3 months
less than chronologic age. Use of the weight-for-length
reference is another way to assess proportionality of
weight and length that is independent of age norms.
Disease- or condition-specific growth charts have little practical value in monitoring growth. Data for these
charts have often inevitably come from a small sample
size or from a population receiving poor nutritional or
medical intervention. Specialty growth charts may be
useful in comparing children to others with the same
syndrome and in identifying expected patterns of growth
for the condition. They are best used in conjunction with
the National Center for Health Statistics growth charts
for monitoring growth and proportionality.
Because determination of ideal weight is dependent
on length or height measurement, obtaining accurate
measurement is important yet often difficult in special
populations. Alternative methods to use of a length
board or stadiometer include the knee-height caliper,
which measures the length from heel to knee and applies
a formula to estimate height (Table 29-1), and upper
arm length or tibia length measurement formulas (Bell
and Davies, 2006; Stevenson, 1995).
279
should not routinely exceed the published tolerable upper intake limits (Otten, Hellwig, and Meyers, 2006).
The risks for inadequate nutrient intake are generally
more likely to be attributed to inadequate dietary intake than to increased nutrient needs. A complete
childrens multivitamin-mineral tablet (i.e., a product
that includes both vitamins and minerals) may be given
daily if dietary intake from an entire food group is missing or energy requirements are very low. Several case
reports have been published of specific micronutrient
deficiencies occurring in the context of extremely limited variety, based on either limited child preferences or
perceived intolerance to multiple foods (see vignette).
Increased intakes for calcium and vitamin D are indicated for the nonambulatory, nonweight-bearing child
to optimize bone mineralization. This is especially important during early adolescence when bone mineralization is maximal. Although more empiric than evidence
based, typical recommended intakes are at least 150%
of the Adequate Intakes for these nutrients. Calcium is
not included in significant amounts in vitamin-mineral
supplements and should be given in addition to any vitamin preparations. Fluoride supplementation should
be considered for children fully dependent on ready-tofeed formula and without additional intake of fluoridated water.
In general, this was an agitated, uncooperative, prepubertal boy who appeared well nourished.
Skin: nonpalpable purpuric lesions on feet and ankles, with extension up to knees; no petechiae; no lesions on
buttocks.
Head, eyes, ears, nose, and throat: no bleeding gums or oral lesions; no epistaxis; eyes without icterus or injection;
neck supple and without adenopathy; lungs clear; cardiovascular examination unremarkable.
Abdomen: nontender and without organomegaly.
Extremities: 2-3+ pitting edema in feet and ankles, with extension up to knees.
Rectal examination findings normal; stool heme negative.
Neurologic examination grossly intact but difficult to perform owing to poor cooperation.
Laboratory Studies
Complete blood count with slightly low hemoglobin and hematocrit values, normocytic mean ce
ll volume; normal
platelet count; erythrocyte sedimentation rate, 15; urinalysis, negati
ve; prothrombin time, prolonged at 15; blood urea
nitrogen and creatinine concentrations normal.
Discussion
Although examination findings are not entirely inconsistent with Henoch-Schnlein purpura, the history did not
indicate the typical progression of macular rash starting on distal aspects of lower extremities and buttocks. The
absence of hypertension, palpable lesions, signs or symptoms of bowel ischemia, and laboratory findings suggestive of
systemic inflammation (no elevated erythrocyte sedimentation rate, thrombocytosis, or leukocytosis) does not support
(Continued)
280
In young children with special needs who are not receiving fortified formulas, dietary preferences may not
include good sources of iron or zinc, two trace minerals for which requirements are relatively high in infancy
and early childhood, when growth is relatively rapid and
when postnatal brain development is still active. Iron is
essential for normal erythropoiesis and for normal brain
development. The bone marrow and red blood cell production is prioritized, however, over other tissues, including the brain. Iron deficiency has been associated
with both cognitive and motor deficits. When these
occur in early childhood, they appear to be only partially reversible with iron therapy, presumably because
of the impact of the insult during a critical window
of brain development. Iron deficiency anemia represents
severe deficiency. Mild to moderate deficiency, reflected
by depleted stores, is associated with adverse neurodevelopmental consequences (American Academy of
Pediatrics, 2004b).
Zinc is essential for normal growth, immune function,
and neurocognitive development. Unlike iron, stores of
zinc are limited, and mild to moderate deficiency can
occur relatively quickly with limited absolute intake or
intake from dietary sources that have limited bioavailability, such as foods containing absorption inhibitors
like phytate, which is found in grains and legumes. The
effects of mild zinc deficiency are well documented and
include growth faltering (both linear and weight gain),
anorexia, and impaired immune function. Neurodevelopmental delays have also been documented, particularly
related to motor development. More severe deficiency
is associated with these signs as well as a characteristic
acral-orificial dermatitis and diarrhea.
Flesh foods, especially red meats, are excellent natural and highly bioavailable sources of these two minerals. However, for a variety of reasons, including the
texture and need for coordinated chewing, taste preferences, and tradition, meats often are not routinely
consumed by young children with special needs. Although infant cereals are typically highly fortified with
iron, once a young child transitions to ready-to-eat cereal, this dietary source is often not replaced by comparably fortified foods. Food fortification with zinc is
more limited than for iron, so young children who do
not consume commercial fortified enteral formulas may
have marginal zinc intakes if their diets do not contain
meats. If iron status was adequately supported during
DIETARY ASSESSMENT
Assessment of an infants intake should most importantly determine whether the infant is breastfed (or
receiving human milk) or formula fed. This is a critical distinction because of the differences in feeding and
nutritional issues between these two feeding modes. Although many infants will receive a mixture of feedings,
the following discussion highlights issues assuming full
intake from either human milk or formula.
The benefits of breastfeeding to infant health and development are without question, but this requires clinicians to be aware of physiologic issues that are inherent
with breastfeeding. A general resource for breastfeeding
management, including for infants with special needs,
has been published by the American Academy of Pediatrics (American Academy of Pediatrics, 2006). If the
infant has feeding difficulties (e.g., due to prematurity,
developmental delays, or congenital anomalies), maternal milk supply can easily and quickly become diminished. In such circumstances, a good milk supply can be
maintained with pumping. The demands on the mother
of pumping, however, must also be recognized, and support will be important for sustained success. Early recognition of potentially inadequate milk supply due to
poor infant feeding is critical for avoidance of growth
faltering. Fortification of expressed human milk may
be beneficial for infants with special needs (e.g., those
born prematurely or those for whom adequate volume
is a challenge). Human milk fortifiers designed for premature infants are available while the infant is in the
281
PHYSICAL EXAMINATION
Components of the physical examination that are most
reflective of and responsive to nutritional status are general appearance, skin, hair, and mucosal surfaces. General appearance includes amount of subcutaneous fat
(e.g., wasting, which reflects inadequate energy intake;
or normal to generous fat, which reflects adequate or excessive energy intake). As discussed before under growth
assessment, distinguishing between subcutaneous fat and
muscle mass can be used to assess energy needs. Skin fold
measurements, if available and appropriately obtained,
can help characterize these body composition differences. Evidence of micronutrient deficiencies should particularly be considered in the presence of skin findings,
including detectable pallor, bruising, petechiae, and
rashes that are unusual in character or severity. Abnormal hair texture, easy pluckability, or visible change in
pigmentation may represent nutritional deficits, including inadequate or poor-quality protein intake. Edema,
282
BIOCHEMICAL ASSESSMENT
Laboratory testing is often less informative than the
history and examination but can certainly be used to
screen for gross deficiencies or metabolic abnormalities
or to offer confirmatory data. Biochemical screening
is typically limited to a complete blood count, but as
noted before, anemia due to iron deficiency reflects severe deficiency and thus is a late diagnosis. If the child
presents in a vulnerable age range (e.g., older infant or
toddler) for iron deficiency or a dietary pattern suggests
inadequate intake, a better assessment is provided by
obtaining a serum ferritin concentration and transferrin
saturation (and derived iron-binding capacity) in addition to the complete blood count. Because ferritin is elevated as part of the acute-phase response, interpretation
is enhanced by obtaining a concurrent marker of inflammation (e.g., a C-reactive protein level or erythrocyte
sedimentation rate). Without evidence of hepatic dysfunction, edema, or moderate to severe protein-energy
malnutrition, serum albumin concentration is unlikely
to be low or informative. Prealbumin is another circulating protein that has a shorter half-life than albumin
and reflects more acute changes in nutritional status, but
in an outpatient assessment, it typically provides little
additional information beyond that available from the
history, anthropometry, and examination. Both albumin
and prealbumin are also depressed with acute inflammation. Specific circulating levels can be obtained for most
vitamins, or, in some cases, intermediary metabolites
Table 29-3. Potential Nutrient-Drug Interactions for Drugs Commonly Prescribed for Children with
Developmental Delays
Medication
Interaction
Recommendation
Anticonvulsants
Phenytoin
Phenobarbital
Laxatives
Mineral oil
Steroids
Stimulants
Antipsychotics
Mouth Lesions
Neurologic Symptoms
Anemia
X (purpura)
X
X
X (purpura)
X
X
X
X
X
X
X
X
X
X
X
Tetany
X
X
X
X
X
X
Other
INTERVENTIONS
Poor weight gain often can be improved with increasing
the calorie density of infant formula, offering energydense foods and beverages, and enhancing the calorie
content of low-energy foods by addition of fats. This includes providing whole milk to drink and setting limits
on consumption of water, juice, and sports drinks. Flavored instant breakfast powder added to whole milk or
milk mixed with cream supplies additional calories and
nutrients. Flavored liquid pediatric nutritional supplements (e.g., PediaSure) are expensive but are often available through the local Special Supplemental Nutrition
Program for Women, Infants, and Children (WIC) or
some insurance carriers; private label versions are sold
at most major retailers. These drinks contain milk protein but are lactose free and are broadly fortified with
micronutrients. Protein- and micronutrient-fortified
high-calorie juice beverages are available from pharmaceutical sources and are useful for children who refuse
the creamy texture and flavor of milk.
When children exhibit signs of food refusal to certain textures, fatigue with eating, inability to advance
diet to age-appropriate foods, coughing or choking with
eating or drinking, or prolonged time required to eat,
a referral for evaluation by an occupational or speech
therapist with expertise in child feeding may provide
helpful insights into the processes underlying the childs
feeding challenges. An upright modified barium swallow study may also be helpful to evaluate for aspiration
and to identify textures that can be managed safely by
the child.
Tube feedings, either by nasogastric or gastrostomy
device, should be considered when attempts to maximize the diet orally have failed to produce steady weight
gain, when unreasonable amounts of time (more than
45 minutes per meal) are required for oral feeding,
when inadequate hydration leads to severe constipation,
or when oral feedings are not safe because of risk of
aspiration. Ideally, tube feedings should not replace all
oral feeding when aspiration is absent, but they may be
used to augment inadequate dietary intake or to provide
283
284
but sanitation in the food preparation and storage process must be ensured, and analysis of the recipe for
nutritional adequacy by a pediatric dietitian is recommended.
Specialty pediatric enteral formulas that contain partially hydrolyzed proteins (casein or whey), peptides,
and free amino acids as a nitrogen source are available
for infants or children with allergies or protein sensitivity. Some of these formulas also contain a fat blend
with a mixture of long- and medium-chain triglycerides,
which are helpful in the management of malabsorption.
Pediatric physician nutrition specialists or gastroenterologists as well as pediatric dietitians are useful resources to recommend enteral formula products. A list
of pediatric formulas and their features is provided in
Table 29-5.
Bolus feedings should be given when possible. For the
child who is fed both orally and with tube, feeding regimens include having the child eat at regular mealtime
intervals, following each meal with an enteral feeding.
The child who eats orally may be allowed to eat and
drink throughout the day as desired and then be given
enteral feedings overnight by feeding pump to supplement intake to achieve calorie and fluid goals. When
enteral tube feedings are the sole source of nutrition, a
bolus feeding schedule should be developed to provide
Features
Formula Examples
PediaSure*
Resource Just for Kids
Nutren Junior
Compleat Pediatric
Constipation
Delayed gastric emptying
Gastroesophageal reflux
Impaired gut function
Malabsorption
Protein allergy
Poor weight gain
Poor milk acceptance
Neocate Junior
Elecare
Resource Just for Kids 1.5, Resource Just
for Kids 1.5 with Fiber
Enlive*
Boost Breeze
All formulas are lactose free, meet 100% Dietary Reference Intakes for most nutrients in approximately 1000 mL, are intended for children ages 1 to 10, and
provide 30 kcal/oz (1 kcal/mL) unless otherwise indicated.
*Ross Products Division, Abbott Laboratories, Columbus, OH.
Nestle Nutrition, Glendale, CA.
Nutricia North America, Gaithersburg, MD.
formulas concentrated to 1.5 calories/mL provide additional protein loads. Use of carbohydrate may precipitate
osmotic diarrhea, and carbohydrate orcarbohydrate-fat
supplements do not add additional vitamins or minerals
for those who need them. See Table29-6 for a list of
commonly used formula additives.
Weaning from tube feedings may be the eventual outcome for some children as development of oral skills
progresses and safety of oral feedings is demonstrated
on an upright modified barium swallow study. The child
should be medically stable, with the underlying condition that led to the tube corrected or stabilized. Weaning
should be attempted only when the childs nutritional
status is optimal, as some loss of weight may be inevitable during the weaning process. A weight loss of up to
10% may be tolerated if the child is at an ideal weight
for age and length when the weaning process is initiated.
Regular monitoring of oral progress, weight, and energy
and fluid intake by a pediatric dietitian or physician is
necessary during the weaning process. Guidelines for
transitioning from tube feedings to oral feedings are
provided in Table 29-7.
Some programs transition the child from tube to oral
feeding by use of an intensive, behaviorally based program that lasts only a few weeks. This approach is highly
structured, providing firm, consistent introduction of
foods without regard to the childs initial response.
These programs may be successful with some children.
285
SUMMARY
Children with special health care needs require adequate
and appropriate nutritional intake to achieve optimal
growth and development. Although the principles of
nutrition assessment are the same as for normal healthy
children, including assessment of dietary intake, growth,
physical examination, and laboratory biomarkers, the
interpretation is more complex because of differences in
growth potential, body composition, activity levels, and
associated medical conditions. Similarly, the options for
nutrition support are more complex if developmental or
gastrointestinal conditions dictate special routes or quality of feedings. In all cases, the child must be examined
and treated as an individual, with sufficient monitoring to
promptly identify either inadequate or excessive growth
and to make appropriate adjustments to quantity or
quality of the nutritional intake. This population is vulnerable to manipulations of nutritional intake for which
the practitioner should be aware. Regular attention to
nutritional needs and nutrition status in clinical practice
can make it possible that every child with special needs
will grow and develop to his or her own potential.
Features
Examples
Calorie booster
Polycose*
Calorie booster
Calorie booster
Protein booster
Fiber booster
Microlipid
Duocal
Resource Beneprotein
Resource Benefiber
*Ross
Nestle
Table 29-7. Guidelines for Transition from Tube Feeding to Oral Feeding
To prepare for the physiologic feelings of hunger and satiety, the feeding schedule should be adjusted to deliver daytime boluses, simulating
quantity and timing of daytime meal and snack schedules.
The child should then be offered regular meals and snacks by mouth, followed by the supplemental enteral feedings.
The calories given by tube may be decreased by approximately 25%. This amount has been suggested to be adequate to invoke enough
hunger to promote increased oral intake without allowing excessive weight loss as oral intake increases (Blackman and Nelson, 1985).
Feedings may be continually decreased as oral intake improves.
Continue to meet water needs by tube if needed. Fluids are often the last consistency to be safely or easily consumed.
When the child can meet at least 75% of the energy needs by mouth, tube feedings may be discontinued and weight monitored.
The unused feeding tube should remain in place for several months to allow enough time to document consistent physical growth, especially
during periods of acute illness.
286
REFERENCES
American Academy of Pediatrics, Committee on Nutrition: Complementary feeding. In Kleinman RE (ed): Pediatric Nutrition
Handbook, 5th ed. Elk Grove Village, IL, American Academy of
Pediatrics, 2004a, pp 103115.
American Academy of Pediatrics, Committee on Nutrition: Iron deficiency. In Kleinman RE (ed): Pediatric Nutrition Handbook, 5th
ed. Elk Grove Village, IL, American Academy of Pediatrics, 2004b,
pp 299312.
American Academy of Pediatrics: American College of Obstetricians
and Gynecologists: Breastfeeding Handbook for Physicians. Elk
Grove Village, IL, American Academy of Pediatrics; Washington,
DC, American College of Obstetricians and Gynecologists, 2006.
Bell KL, Davies PS: Prediction of height from knee height in children
with cerebral palsy and non-disabled children. Ann Hum Biol
33:493-499, 2006.
Blackman JA, Nelson CL: Reinstituting oral feedings in children fed
by gastrostomy tube. Clin Pediatr (Phila) 24:434-438, 1985.
Duggan CP, Westra SJ, Rosenberg AE: Case records of the Massachusetts General Hospital. Case 23-2007. A 9-year-old boy with bone
pain, rash, and gingival hypertrophy. N Engl J Med 357:392-400,
2007.
30
INBORN ERRORS
OF METABOLISM
variant-type inborn errors of metabolism may be manifested at any age and may not show all or even any of the
features usually associated with the classic descriptions of
these disorders. The practitioner must maintain an index
of suspicion in the approach to diagnosis of any of these
disorders, especially when the patient is out of infancy. It
is not always clear what environmental or combination
of circumstances lead to manifestations of illness in these
patients. Many anecdotal associations have helped focus
laboratory testing, but approaches to screening by necessity must be broad. Often, a tiered approach rather than
the shotgun approach is more useful. Watchful waiting for the development of additional manifestations that
direct diagnostic testing is a part of the work-up of most
of these patients with atypical presentations. Explaining
the need for patience to the parents is a necessary part of
the counseling session of most patients with unexplained
developmental delays or behavioral abnormalities undergoing metabolic disease evaluation.
GENERAL APPROACH
The general diagnostic approach to the evaluation of patients with behavioral or developmental abnormalities is
discussed in several other chapters of this book. Usually,
before these patients reach the clinical biochemical geneticist or metabolic disease specialist, they have already
undergone fairly comprehensive etiologic evaluations.
Neuroimaging has often already been performed, as have
screening karyotypes and other studies discussed elsewhere in the text. Additional key items must therefore be
kept in mind in considering inborn errors of metabolism
to identify possible avenues for further investigation.
A list of clinical or laboratory findings that may be apparent after the initial (or later) consultation is provided
in Table 30-1. Throughout this text, whenever associations have been reported, these are noted by the finding
followed by the disorder in parentheses. However, these
associations are still few and in some cases anecdotal
associations. Often, after consultation with the clinical
biochemical geneticist or metabolic disease specialist, the
practitioner will want to review any positive (or pertinent
negative) findings described by the specialist or listed on
laboratory results, and texts are available for that purpose, some of which are listed at the end of this chapter.
The tables provided in this chapter are meant to be a
starting guide for clinical and laboratory evaluation.
287
288
Table 30-1. Initial Clinical or Laboratory Findings Suggestive of Inborn Errors of Metabolism
Intermittent or recurrent unexplained illness
Developmental delays
Regression or loss of psychomotor skills
Intermittent or new-onset behavioral or psychiatric
abnormalities
Failure-to-thrive (growth or weight gain)
Neurologic abnormalities
Hypotonia
Dystonia or disorders of movement
Dysmetrias and ataxia
Seizures, especially recalcitrant, difficult to control
Unexplained lethargy or coma
Somatic abnormalities
Coarse facies, macrocephaly, prominent eyebrows
Hepatomegaly or hepatosplenomegaly
Hair (brittle, sparse, alopecia)
Skin abnormalities (dermatitis, buttock dimpling,
angiokeratomas)
Ophthalmologic abnormalities
Corneal or lenticular opacities
Retinal abnormalities
Abnormalities of extraocular movements
Unexplained deafness (sensorineural hearing loss)
Skeletal abnormalities
Unexplained contractures, clawed extremities
Modified from Moeschler JB, Shevell M; American Academy of Pediatrics Committee on Genetics: Clinical genetic evaluation of the child with mental retardation or
developmental delays. Pediatrics 117:2304-2316, 2006.
289
Figure 30-1. Mild progression of classic features of Hunter syndrome (MPS II). The patient had minimal evidence of MPS II at initial evaluation
for developmental delay. Photographs at ages 3 to 6 years demonstrate progression to classic coarse facial features, accompanied by organomegaly
and dysostosis multiplex, observed at 10 years of age (right).
290
reasons for the change. This change in school performance may occur even before notable changes on either brain imaging or physical examination. Strokelike
episodes are associated with a number of inborn errors
of metabolism, often with resultant dystonia, dyskinetic
conditions, and developmental delays that may initially
be manifested with the episode, then appear to improve,
then appear to become more permanent or progressive.
It may take several years before the involvement of basal
ganglia secondary to metabolic strokes associated
with a variety of organic acidemias (e.g., methylmalonic
and propionic acidemias) is noted on neuroimaging
studies (Fig. 30-2). Many individuals with inborn errors of metabolism have history of periods of waxing
and waning developmental progression. Others, such as
with glutaric aciduria type I, may have apparent normal development for many months before a devastating
illness with metabolic crises or strokelike event leaves
them with a dystonic or dyskinetic condition, sometimes
with associated developmental delay. However, many
individuals with developmental delay associated with
inborn errors of metabolism present no differently from
most children with otherwise undiagnosed developmental delay or intellectual disabilitythere is simply slower
than normal but continuing progression of attainment
Figure 30-2. Abnormal basal ganglia T2 signals of magnetic resonance imaging of the brain in a patient with propionic acidemia. Note increased signals of putamen and
caudate regions (arrows) but not of adjacent basal ganglia
(globus pallidus) or thalamus. These were not observed until
6 years of age, 3 years after first prolonged coma-producing
episode at 312 years of age with resultant hemiplegic choreoathetosis that resolved in the subsequent 9 months. They
are not evident on a routine computed tomographic scan
of the head. There are also diffuse increased signals in the
subcortical white matter.
to help guide diagnostic testing. A formal ophthalmologic consultation is appropriate to determine if any
other physical clues are present (specific retinal, lenticular, or corneal abnormalities). A summary of many
of these associations can be found in Table 30-4 and
more complete coverage in the referenced texts. Importantly, keep in mind that many of these abnormalities
may not yet be present at the time of initial referral for
developmental delay. For example, as shown in Figure
30-1, it took several years for this patient with Hunter
syndrome (MPS II) to develop recognizable features
associated with the condition (such as coarse facies or
skeletal abnormalities). In this case, initial mild hepatomegaly, associated with continuing mild developmental
delay, led to early diagnosis of MPS II. Considering that
enzyme replacement therapy for this and several other
lysosomal disorders is now available, it is important to
identify these disorders as early as possible.
LABORATORY EVALUATION
It is recommended that all patients with unexplained
developmental delays undergo complete genetics evaluation, which should include comprehensive dysmorphologic, ophthalmologic, and neurologic examinations as
well as brain imaging studies. Laboratory tests should
include both cytogenetic and submicroscopic examinations (fluorescent in situ hybridization and molecular)
as well as both screening and targeted testing for inborn
errors of metabolism. Because inborn errors of metabolism represent a large diverse collection of conditions
due to errors in any one of many interacting metabolic
pathways, selection of discriminating or diagnostic
tests for any individual inborn error of metabolism is
291
Table 30-2. Screening Laboratory Investigations for Inborn Errors of Metabolism as Causes of Developmental
Delay or Behavioral Abnormalities
Blood Tests
nitrogen, creatinine
Liver function tests (aspartate aminotransferase, alanine
aminotransferase, albumin)
Urine Tests
Urine for organic acid analysis
Urine analysis (including ketones and reducing substances)
Metabolic screens (differing availability and types): ferric
chloride, dinitrophenylhydrazine, Acetest, reducing
substances, mucopolysaccharide screen, others
292
Hyperammonemia
Ketones
Hypoglycemia
++
Organic acidemia
Amino or organic acids
Fatty acid oxidation
Mitochondrial disorder
Carbohydrate disorder
Peroxisomal disorder
Lysosomal storage
(MPS, SPHL)
+
+/
++
+/
+
+
high
low-absent
+/
+
+
++
+/
+
*Usually
present and marked (++), usually absent (), may be present (+), variable finding (+/).
acidemias are divided into those derived from errors in metabolism of amino acids and fatty acid oxidation disorders; lysosomal storage refers to
mucopolysaccharidoses (MPS) and sphingolipidoses (SPHL).
Respiratory alkalosis in clinical settings of shocklike appearance in which metabolic acidosis would otherwise be expected is a marker of hyperammonemia.
Low level or absence of ketones associated with hypoglycemia is usually either excessive insulin function or a fatty acid oxidation or ketogenesis disorder.
Organic
293
Table 30-4. Inborn Errors of Metabolism Suggested by Clinical and Laboratory Features Associated with
Developmental Delay*
Behavioral or Psychiatric Symptoms
Sanfilippo (MPS III) syndrome
Hunter (MPS II) syndrome
Urea cycle defects (any) (especially ornithine transcarbamylase
deficiency in girls)
Adrenoleukodystrophy
Metachromatic leukodystrophy
Homocystinuria
Cobalamin disorders
Methylene tetrahydrofolate reductase deficiency
Hurler-Scheie/Scheie (MPS I) syndrome
Wilson disease
Late-onset GM2 gangliosidosis
Late-onset neuronal ceroid lipofuscinosis
Purine disorders
Lesch-Nyhan disease (self-mutilation)
Porphyrias
Disorders of creatine
Niemann-Pick type C
Mitochondrial disorders (e.g., MELAS)
Sensorineural Deafness
Peroxisomal disorders
Mitochondrial disorders
Canavan disease
Biotinidase deficiency
Phosphoribosylpyrophosphate synthetase (purine) abnormality
Mucopolysaccharidoses (I, II, IV)
Mannosidosis
Renal Abnormalities
Polycystic kidneys
Zellweger syndrome (peroxisomal)
Congenital disorders of glycosylation
Glutaric aciduria II
Smith-Lemli-Opitz syndrome
Carnitine palmitoyltransferase II deficiency
Renal Fanconi syndrome
Cystinosis
Galactosemia
Tyrosinemia type I (intellectual disability rare)
Hereditary fructose intolerance
Lowe syndrome
Mitochondrial disorders (rare)
Glycogen storage disease I (intellectual disability rare)
Lysinuric protein intolerance
Wilson disease
Unusual odors
Musty or mousy: phenylketonuria
Maple syrup: maple syrup urine disease
Sweaty feet: isovaleric acidemia; glutaric acidemia type II
Cabbage: tyrosinemia
Acrid: glutaric acidemia type II
Fishy: trimethylaminuria, tyrosinemia
Swimming pool: hawkinsinuria
Cat urine: -methylcrotonylglycinuria
Treatments of inborn errors of metabolism
Carnitine for organic acidurias
Phenylacetate for disorders of the urea cycle
Skeletal Abnormalities
Dysostosis multiplex
Hurler disease (all MPS I forms)
Hunter disease (MPS II)
Sanfilippo disease (MPS III)
Maroteaux-Lamy (MPS VI; intellectual disability rare)
Eye Abnormalities
Lens dislocation
Homocystinuria
Molybdenum cofactor deficiency
Sulfite oxidase deficiency
Marfan syndrome (rare with intellectual disability)
Upward gaze abnormality
Niemann-Pick type C
Mitochondrial disorders (Kearns-Sayre, Leigh syndromes)
Macular cherry-red spot
GM2 gangliosidosis (Tay-Sachs, Sandhoff diseases)
Niemann-Pick disease
GM1 gangliosidosis
Krabbe disease
Galactosialidosis
Sialidosis
Mucolipidoses
Multiple sulfatase deficiency
Farber disease
Cytochrome c oxidase deficiency
Corneal opacities
Cystinosis (lysosomal transport defect)
Mucopolysaccharidosis (MPS) syndromes
Hurler (MPS I)
Morquio (MPS IV)
Maroteaux-Lamy (MPS VI)
Sly (MPS VII)
Mucolipidoses (I-cell disease, mucolipidosis III)
Oligosaccharidoses
Galactosialidosis
Mannosidosis
Sphingolipidoses
GM1 gangliosidosis
Fabry disease (intellectual disability rare)
Multiple sulfatase deficiency
Lenticular opacities (cataracts)
Galactosemia
Homocystinuria
Peroxisomal disorders
Smith-Lemli-Opitz syndrome
Mitochondrial disorders
Lowe syndrome
Mevalonic aciduria
Hyperornithinemia
Multiple sulfatase deficiency
Lysinuric protein intolerance
Fabry disease (intellectual disability rare)
Retinitis pigmentosa
Peroxisomal disorders
Congenital disorders of glycosylation
Mitochondrial disorders
Mevalonic acidemia
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Hunter (MPS II) syndrome
(Continued)
294
Table 30-4. Inborn Errors of Metabolism Suggested by Clinical and Laboratory Features Associated with
Developmental Delaycontd
Skeletal Abnormalitiescontd
Sjgren-Larsson syndrome
Abetalipoproteinemia
Macrocephaly
Glutaric aciduria type I
Hurler disease (MPS I)
Krabbe disease
Canavan disease
Tay-Sachs disease
Mannosidosis
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)
l-2-Hydroxyglutaric aciduria
d-2-Hydroxyglutaric aciduria
4-Hydroxybutyric aciduria
3-Hydroxy-3-methylglutaric-CoA lyase deficiency
Multiple sulfatase deficiency
Neonatal adrenoleukodystrophy (peroxisomal disorder)
Pyruvate carboxylase deficiency
Hair Abnormalities
Alopecia
Biotinidase deficiency
Holocarboxylase synthase deficiency
Methylmalonic and propionic acidemias
Acrodermatitis enteropathica
Zinc deficiency
Congenital erythropoietic porphyria
Pili torti: Menkes disease
Trichorrhexis nodosa
Menkes disease
Argininosuccinic aciduria
Argininemia
Lysinuric protein intolerance
Skin Abnormalities
Angiokeratomas
Fabry disease (intellectual disability rare)
GM1 gangliosidosis
Schindler disease
Galactosialidosis
Sialidosis
Fucosidosis
Mannosidosis
Ichthyosis
Steroid sulfatase deficiency
Multiple sulfatase deficiency
Congenital disorders of glycosylation (type 1f)
Refsum disease
Sjgren-Larsson syndrome
Gaucher disease
Krabbe disease
Nodules
Farber disease
Congenital disorders of glycosylation
Hunter syndrome (MPS II)
Thickened or dimpled skin
Congenital disorders of glycosylation (abnormal fat pads, dimpling)
Thickened
GM2 gangliosidosis
Sly disease (MPS VII)
I-cell disease (mucolipidosis II)
Sialidosis
Galactosialidosis
Inverted nipples
Congenital disorders of glycosylation
Menkes disease
Biopterin synthesis disorders
Molybdenum cofactor deficiency
Isolated cases of citrullinemia, methylmalonic and propionic
acidemias, pyruvate carboxylase deficiency, very-long-chain
acyl-CoA dehydrogenase deficiency
Hematologic Abnormalities
Hemolytic anemias
Pyroglutamic aciduria (5-oxoprolinuria)
Pyrimidine disorders
Purine disorders
Glycolytic disorders
Wilson disease
Megaloblastic anemias
Abnormalities of cobalamin (vitamin B12) and deficiencies
CblC, CblD, CblF
Methylmalonic acidemia and homocystinuria
Transcobalamin II deficiency
Abnormalities of folate and deficiencies
Mevalonic aciduria
Orotic aciduria (pyrimidine disorders)
Pearson syndrome
Leukopenia
Organic acidurias (especially methylmalonic, isovaleric, and
propionic acidurias)
Folate abnormalities
3-Oxothiolase deficiency
Transcobalamin II deficiency
Mitochondrial disorders (Pearson syndrome)
295
Table 30-4. Inborn Errors of Metabolism Suggested by Clinical and Laboratory Features Associated with
Developmental Delaycontd
Elevated Creatine Kinasecontd
Hypouricemia
3-Oxothiolase deficiency
Mevalonic aciduria
Myoadenylate deaminase
deficiency
Hyperammonemia
Urea cycle defects
Organic acidurias (especially methylmalonic, propionic, and
isovaleric acidurias and glutaric aciduria type II)
Fatty acid oxidation defects
Multiple carboxylase deficiency (biotinidase and holocarboxylase
synthase deficiencies)
Pyruvate dehydrogenase complex
deficiency
Leigh Syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate carboxylase deficiency
Mitochondrial disorders (includes electron transport defects)
Fumarase deficiency
3-Methylglutaconic aciduria
Biotinidase deficiency
Sulfite oxidase deficiency
*This
table represents a starting point for consideration of focused screenings for inborn errors of metabolism. It is derived from multiple references listed at the end
of the chapter, primarily in the summary tables found in Fernandes et al (2000), Gilbert-Barness and Barness (2000), Hoffmann et al (2002), Nyhan, Barshop, and
Ozand (2005), and Wappner and Hainline (2006), to which the reader is referred for more comprehensive listings. It is not meant to be all-inclusive.
296
their amino group in a series of transamination reactions that ultimately shuttle the amino group into the
urea cycle. This prevents the accumulation of ammonia,
a compound toxic to many cells, which may produce
cerebral edema and neuronal damage. The efficient
functioning of the urea cycle in the liver produces urea,
the excretory form of these nitrogen-containing amino
groups, and prevents these harmful effects of tissue accumulation of ammonia, the free form of these amino
groups. The clinical manifestations of hyperammonemia
may include vomiting, poor feeding, irritability, headache, confusion, listlessness, and hyperpnea, which may
lead rapidly to lethargy, coma, seizures, and respiratory
arrest. Hyperammonemia appears to have a direct stimulatory effect on the respiratory centers of the brain,
leading to a respiratory alkalosis. This laboratory result
contrasts with what is usually expected in a sick child
appearing in shock (i.e., metabolic acidosis). Reported
normal laboratory values should always be considered suspicious in a child appearing very sick, whose
pH, bicarbonate, and blood urea nitrogen levels should
otherwise be anything but normal value.
In infants especially, persistent or recurrent vomiting
of unknown etiology should always lead to consideration
of hyperammonemia because this can rapidly progress to
a critical illness without treatment. In older children and
adults, developmental delay and neurologic abnormalities
on examination may be evident from both clinically apparent and subclinical episodes of hyperammonemia in
the past. For many of these past episodes, the plasma
ammonia may not have been measured and therefore
wide suspicion is important. Both acute behavioral and
psychiatric manifestations have been described, and
children and adults have described the difference when
they have their ammonia headaches compared with
migraines and other discomforting episodes. Obtaining
a measure of plasma ammonia needs to be a priority in
any child in whom mental status changes, defined very
broadly, are evident. There are both acute and chronic
forms of all of the disorders that affect the urea cycle, and
clinical suspicion is paramount. The urea cycle may not
be functioning adequately because of either mutations
in the genes encoding the enzymes of the urea cycle (primary urea cycle disorders) or the toxic accumulation of
products of other inborn errors of metabolism (notably
the organic acidemias) that directly negatively affect the
functioning of these enzymes. The degree of hyperammonemia at times may be just as high in these conditions as in the primary urea cycle disorders. Screening
is accomplished by measurement of plasma ammonia
levels, plasma amino acids, and urine for organic acids
(including orotic acid). Quantitation of amino acids in
the urine may also be helpful.
Several inherited disorders of the urea cycle (urea
cycle disorders) are due to insufficiency or total absence
of one of the six enzymatic activities contributing to the
complete urea cycle (Table 30-5).
They are all autosomal recessive genetic disorders
except for ornithine transcarbamylase (OTC) deficiency, an X-linked disorder. OTC deficiency should
be suspected when family history reveals male newborn or infant deaths. Because of the random nature of
X-inactivation, many girls carrying an OTC mutation
have clinical symptoms. Some are severely affected with
presentation in early infancy; others have symptoms
including headaches, intermittent ataxia or encephalopathy, behavioral and psychiatric abnormalities, or
developmental delays. Teenage girls often learn to avoid
high proteincontaining meals, and therefore dietary
preferences can provide helpful clues as well. Several
older male children have also been identified, not having
the devastating infantile illness, by mutations producing
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298
Hyperammonemia-hyperornithinemia-homocitrullinemia
syndrome may present with variable developmental
delays, irritability, myoclonic spasms, hemiparesis or
paraparesis, seizures, and numerous other neurologic
findings at any age. Intermittent episodes of hyperammonemia often lead to typical symptoms and signs of vomiting, lethargy, ataxia, or coma, and cortical atrophy on
computed tomography or magnetic resonance imaging
of the head may be evidence of subclinical attacks. Postprandial hyperammonemia may be interspersed with
normal levels of ammonia. Plasma and urine amino acids are useful screens, demonstrating hyperornithinemia,
orotic aciduria, and homocitrullinuria. Elevated levels
of ornithine may be present in other disorders with developmental delay, such as ornithine aminotransferase
deficiency with gyrate atrophy of the choroid and retina
and renal Fanconi syndrome, but these do not have episodes of hyperammonemia. Nonetheless, their presence
may be suspected from the pattern on plasma and urine
amino acid analysis.
Glutaric Acidurias
Disorders of lysine catabolism produce a group of organic acidurias that have a common presentation complex of ataxia, seizures, myoclonus, extrapyramidal
symptoms (dyskinesias), metabolic stroke, and macrocephaly. The best known is glutaric aciduria type I
(deficiency of glutaryl-CoA dehydrogenase), which often remains unsuspected until a devastating strokelike
illness leaves the infant or child with neurologic consequences, often with dystonia as a prominent feature.
Alternatively, the child may present with atypical cerebral palsy, with dystonic or dyskinetic features but no
clinical history of an episode associated with likely brain
injury. There may be history of hypotonia and unusual
movements or posturing of extremities during routine
illnesses or after immunizations. Infants generally demonstrate overt macrocephaly or increasing rate of head
growth during 3 to 6 months of age, before any strokelike or metabolic episode. Brain imaging (computed tomography or magnetic resonance imaging) may reveal
prefrontal collections (prefrontal hygromas) of CSF,
often misinterpreted as evidence of chronic subdural
bleeding. The diagnostic metabolites may be picked up
by MS/MS during newborn screening, but identification
or necessary follow-up of asymptomatic neonates may
be missed. Diets restricted for lysine and tryptophan,
supplemented with riboflavin and carnitine (if deficiency
is documented), and careful education of families and
primary care physicians to promote early administration of intravenous fluids containing glucose with any
significant illness may prevent neurologic sequelae if
they are instituted before the first acute clinical episode
with overt neurologic deterioration. It is unclear if there
is any reversal of symptoms if treatment is started after
the acute severe clinical episode.
Screening of plasma amino acids and urine organic
acids and plasma acylcarnitine profiles should identify
glutaric aciduria type I. Other biochemically related
disorders that should also be identified with the testing
described include the l-2- and d-2-hydroxyglutaric acidurias, 2-oxoadipic aciduria, and glutaric aciduria type II
(now termed multiple acyl-CoA dehydrogenase deficiency). l-2 Hydroxyglutaric aciduria is among the few
causes of leukodystrophy that demonstrates involvement
of the subcortical U fibers (see Table 30-4). Multiple
acyl-CoA dehydrogenase deficiency (glutaric aciduria
type II) is a condition of multiple enzymatic deficiencies that depend on flavin cofactors. Interruption of the
normal flavoprotein-dependent transfer of electrons
from these reactions into the electron transport system
of the mitochondria produces the multiple deficiencies
observed, including that of glutaric acid metabolism and
fatty acid oxidation (see later).
Hyperphenylalaninemias
Several inborn errors of metabolism have historically
been categorized as aminoacidopathies or disorders of
amino acid metabolism, many of which were associated
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300
Tyrosinemias
Several inborn errors of metabolism result in elevations of plasma tyrosine. Classically, only tyrosinemia
type II is variably associated with intellectual disability, although the chronic debilitating symptoms associated with untreated tyrosinemia type I may impede the
normal attainment of motor milestones, especially in
late infancy or early childhood. Both may be detected
by screening plasma amino acid and urine organic acid
analyses. Tyrosinemia type II (tyrosine aminotransferase deficiency), also known as oculocutaneous tyrosinemia, is associated with the development of irritative
dermatitis of the palms and soles and eventual keratitis of the cornea (dendritic type ulcers). Both symptom
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302
g lycine cleavage deficiency conditions, therapies involving benzoate (to promote renal clearance and to lower
body glycine levels) and dextromethorphan (NMDA
antagonist) have been tried on the basis of glycine excitatory neurotransmitter effects on the CNS N-methyl-daspartate (NMDA), receptor with variable results. The
anticonvulsant valproate should probably be avoided
in these conditions because of some evidence that it inhibits the activity of this enzyme complex, leading to
elevations of glycine. Treatment of classic nonketotic
hyperglycinemia has not been proved to ameliorate the
profound psychomotor retardation, and in the opinion
of several clinical biochemical geneticists, classic nonketotic hyperglycinemia remains a lethal condition.
Tyrosine hydroxylase deficiency, the first step in the
pathway of catecholamine biosynthesis (levodopa, dopamine, norepinephrine), has been identified in very
few patients. However, their pattern of presentation is
similar, with dystonias, hypokinesias, or rigidity during
infancy or early childhood. The diagnostic test to keep
in mind is measurement of catecholamines in CSF. Urine
catecholamine measurements are not particularly useful.
Many of the enzymes of the catecholamine (as well as
serotonin) neurotransmitter pathway are biopterin or
pyridoxine cofactor dependent. Although diagnosis of
pathway enzymatic deficiencies depends on CSF analysis for specific patterns of accumulated intermediates,
initial amino acid and organic acid analyses of plasma
and urine occasionally suggest the elevation of these
intermediates. Suggestive clinical presentations include
infants with extrapyramidal movement disorders, hypotonia, and oculogyric crises (aromatic lamino acid decarboxylase deficiency); boys with borderline intellectual
disability with behavioral abnormalities (violent or aggressive) and stereotypic hand movements (monoamine
oxidase A deficiency); and later childhood- or teenageonset dystonias (guanosine triphosphate cyclohydrolase
I deficiencyfirst step in biopterin cofactor synthesis,
may have hyperphenylalaninemia). Both pyridoxineand folinic acidresponsive seizures may be the result
of enzymatic deficiencies of either these or other neurotransmitter pathways.
Defects of sulfite oxidase metabolism (in the metabolic pathway of cysteine), due to either the enzyme
deficiency itself or molybdenum cofactor defect, have
also been associated with refractory seizures and severe
psychomotor retardation. Some individuals with these
disorders have dislocated lens. Molybdenum cofactor
deficiency is associated with extremely low serum uric
acid levels. It produces a combined deficiency of xanthine oxidase and sulfite oxidase, whose products may
be identified on plasma and urine amino acid and organic acid analyses. It is usually identified in infants with
severe, refractory seizures whose first metabolic screens
are negative. It is not clear how variable this condition
may be. Few patients with late onset have been clearly
identified. Specialized testing for urine S-sulfocysteine is
diagnostic in many cases.
An increasing number of children with developmental
delay (mild to moderate, especially language) and acting
out behavior are being identified with succinic semialdehyde dehydrogenase deficiency. This enzyme is in the
pathway of glutamic acid metabolism in the brain involved in the formation and regulation of levels of gammaaminobutyric acid, a known neurotransmitter. The
etiology of vitamin B6 (pyridoxine)responsive seizures
is thought to reside in the upstream portion of this pathway and is a separate condition. Succinic semialdehyde
dehydrogenase deficiency is identified by the presence of
4-hydroxybutyric acid on urine organic acid analysis,
but this metabolite may be missed even by experienced
laboratories. This compound is thought to accumulate
in the CNS and to cause neuroexcitatory abnormalities
as well as the enzymatic deficiency affecting the normal
regulation of gamma-aminobutyric acid levels. More
than 150 individuals have been described with this condition, which is variably manifested during childhood
with intellectual delays, seizures, hypotonia, ataxia, and
variable aggressive behaviors or autistic features. For
that reason, any child presenting to the developmental
pediatrician with some subset of these findings should
have urine analysis of organic acids, keeping this condition as well as numerous other organic acidurias in
mind. Although the anticonvulsant vigabatrin has been
postulated to have a potential therapeutic effect in this
disorder by decreasing the upstream substrate of this
reaction, its toxic side effects have limited clinical studies, and no results of its clear efficacy are available at
present.
There are several disorders of ornithine metabolism
that may be manifested with developmental delays.
Hyperammonemia-hyperornithinemia-homocitrullinemia syndrome is discussed earlier. Disorders of
creatine metabolism may first be suggested by urinary
screening tests. One of these, guanidinoacetate methyltransferase deficiency, is manifested with elevations of
ornithine but low arginine levels in plasma accompanied by low levels of creatine in brain proton magnetic
resonance spectroscopy patterns. Patients usually demonstrate developmental delays, hypotonia, seizures, and
extrapyramidal movements. Many of the patients presenting with later onset have absence of speech or autistic behavior accompanying the intellectual disability.
Some have striking behavioral patterns. When magnetic
resonance imaging of the brain is ordered in a child with
developmental delay, seizures, intellectual disability, or
other related concerns, consideration should be given to
adding such magnetic resonance spectroscopy studies
to detect these and other disorders of inborn errors of
metabolism.
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PEROXISOMAL DISORDERS
Disorders of peroxisomal function have many overlapping features, usually associated with several of the
following: psychomotor retardation; hypotonia or severe weakness; intractable seizures; cataracts, retinal
degeneration, or any impairment of vision or sensorineural hearing; dysmorphic facial features; findings
on computed tomography or magnetic resonance imaging of the head consistent with neuronal migration
defects, heterotopias, and leukodystrophy; liver function abnormalities; and calcific stippling of epiphyses.
A clinical pearl is that peroxisomal disorders should
be considered in any child with both hearing and visual deficits. In the past, attempts at distinguishing
individual clinical disorders were made, but current
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305
Figure 30-5. Adrenoleukodystrophy. Magnetic resonance images of a patient with X-linked adrenoleukodystrophy (left) demonstrate abnormal
signals reflecting parieto-occipital areas of demyelination, which will progress in a caudal-rostral fashion with time. Magnetic resonance imaging
with contrast material (right) demonstrates classic enhancement at the periphery of the demyelinated zone in the occipital region. (Courtesy of
G. Raymond, MD.)
DISORDERS OF CARBOHYDRATES
Glycogen Storage Diseases
If well treated, both early and in an effective prospective manner, most patients with listed forms of glycogen storage disease (I-IX) should not have significant
problems with intellectual development. Most forms are
manifested with signs and symptoms of liver or muscle
dysfunction, including hypoglycemia and varying hepatomegaly, muscle weakness, and hypotonia. Some forms
(glycogen storage disease I and Fanconi-Bickel syndrome [GLUT-2 defect]) may exhibit an associated renal
Fanconitype picture, often first identified by aminoaciduria during work-ups for failure-to-thrive and ricketslike picture. When developmental delay or intellectual
disability is noted in glycogen storage diseases, it usually
is the result of severe hypoglycemic episodes. Glycogen
storage disease II, Pompe disease, is a lysosomal disorder due to acid maltase (-glucosidase) deficiency, with
progressive hypotonia, weakness, macroglossia, hepatomegaly, and cardiomegaly. Enzyme replacement therapy
is now available for this disorder, and early identification is extremely important in attempts to prevent the
relentless development of the cardiomyopathy and subsequent cardiac and respiratory failure.
306
Galactosemia
Classic galactosemia has been associated with apparent delays in speech, language, and other intellectual
functions. Galactosemia classically is manifested in
the newborn period with a clinical picture of neonatal
hepatitis that may include hypoglycemia, acidosis, hyperbilirubinemia, and renal Fanconi syndrome and that
may be associated with a concurrent systemic infection
with Escherichia coli. Cataracts or lenticular opacities
may be noted. Symptoms develop from the inability to
properly metabolize galactose, derived from the intake
of milk sugar, lactose (disaccharide glucose-galactose).
Newborn screening programs have been successful at
decreasing the mortality of this disorder in developed
countries, but false-negative results on newborn screening have been noted, and affected neonates are often becoming ill as the results of newborn screening are being
reported. Classic galactosemia, manifesting within the
first 2 weeks of life, is due to deficiency of galactose-1phosphate uridyltransferase. The excess galactose and
metabolites accumulating in blood and urine is easily
detected with appropriate testing. Testing of urine for
reducing substances (i.e., Clinitest) is an effective screening test, provided the child had remained on oral intake
of lactose-containing feeds (breast milk or formulas).
The presence of reducing sugar in urine is rapidly lost
when intravenous fluids containing glucose are used instead, even for as little as 24 hours. Similarly, numerous
formulas no longer contain lactose, and intake of these
also will produce a negative urine screen for reducing
substances. The clinical illness is rapidly reversed by
the removal of the offending source of galactose (lactose-containing formulas or breast milk). For various
reasons, some of them delineated before, some children
go undiagnosed until they present with later-recognized
complications, including developmental abnormalities.
These include reports of mild intellectual deficits, delayed
speech development and especially verbal dyspraxias,
and some difficulties in visual perceptions, spatial orientation, and performance of visual-motor tasks. Of note,
girls generally have ovarian dysfunction associated with
hypogonadism, delayed puberty, and infertility. Importantly, despite treatments with galactose elimination diets, even starting in the first few days of infancy, these
complications of ovarian dysfunction (near 100%) and
abnormalities in speech-language function (about 70%)
are observed. Erythrocyte tests of galactose 1-phosphate
levels and galactose-1-phosphate uridyltransferase activities should identify these individuals when they present
during the childhood years. More extensive intellectual
disability may be due to the medical complications of
the infantile illness (i.e., meningitis or hypoglycemic
seizures). A number of variants with decreased activity
but not absence of this enzyme have been identified, and
current studies suggest that most are not associated with
these long-term sequelae.
Other variants of galactosemia exist, with deficiencies in either uridine diphosphate galactose 4-epimerase
or galactokinase. Both enzymes may be assayed in red
blood cell samples. Cataracts are the only major abnormality observed in galactokinase-deficient patients.
Complete deficiency of epimerase has been associated
MITOCHONDRIAL DISORDERS
Many inborn errors of metabolism may be manifested
with metabolic acidosis including lactic acidosis as a
secondary complication of poor tissue perfusion and
cellular dysfunction. One group, however, has been related directly to disorders of pyruvate metabolism (defects in pyruvate dehydrogenase complex or pyruvate
carboxylase) and demonstrated elevations of plasma
lactate and alanine as a consequence of the conversion
of presumed excess intracellular pyruvate. The use of
a lactate/pyruvate ratio to help identify these patients
became more widespread, but clinical significance could
be attached only when the plasma lactic acid was high,
and it became clear that sampling artifacts abound. As
more patients with chronic lactic acidosis have been
identified, several have been ascribed to defects in the
mitochondrial electron transport chain. Mutations in
the genes encoding these enzymes may reside in either
nuclear or mitochondrial DNA. As more of these disorders have been identified, it has become apparent that
not all patients have chronic lactic acidosis, many do
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308
and intellectual disability but notably regression in milestone achievements, coarse facies, skeletal abnormalities
(including the specific radiographic findings of dysostosis multiplex for MPS disorders), corneal and lenticular opacities, variable retinal abnormalities (including
cherry-red spot on macula), deafness, hepatosplenomegaly, cardiac valvular disease, dermatologic findings
(such as angiokeratomas), macrocephaly, pancytopenia,
bone marrow foam cells or lipid-laden macrophages or
reticuloepithelial cells in other organs, and other findings help clinically classify the dozens of disorders in
this group of inborn errors of metabolism. For example,
the mucopolysaccharidoses can be clinically subdivided
into the presence or absence of several main clinical features including intellectual disability, corneal clouding,
organomegaly, coarse facies, and dysostosis multiplex,
but wide clinical variability exists for each of these defining clinical distinguishing features (Table 30-7).
Most important, all of these types of storage disorders
should be considered when developmental regression is
indicated on clinical history. Not only CNS but somatic
features may variably progress quickly or slowly, with
intermittent periods of stability of changing features,
after identification of the patient. Enzymatic testing is
available for nearly all of the disorders, often through
leukocyte preparations easily sent to specialty laboratories. The availability of clinical screening tests for
accumulated compounds in urine (glycosaminoglycans,
oligosaccharides) offers a place to start with testing for
some of these disorders, but these urine tests lack sensitivity and specificity. Of note, MPS III disorders are well
known to be variably missed by these urine tests because
they may not accumulate massive amounts of the diagnostic metabolites. Specific enzymatic testing should be
sought as soon as some clinical defining features (subtle hepatosplenomegaly, dysostosis multiplex) are evident in a child with any form of developmental delay.
Consultation with a clinical biochemical geneticist or
metabolic disease specialist early in arranging appropriate studies can save time and expense in the laboratory
investigation.
The onset of developmental regression in the presence
or absence of organomegaly necessitates evaluation for
lysosomal storage disorders. The absence of organomegaly may help guide selection of enzymatic assays to
be performedtesting first for Tay-Sachs disease (GM2
gangliosidosis), some forms of Krabbe disease, and
metachromatic leukodystrophy compared with other
sphingolipidoses with organomegaly presenting similarly
(e.g., Niemann-Pick diseases, Gaucher disease, GM1
gangliosidoses, mucopolysaccharidoses). Coarse facies,
especially early, and complaints referable to musculoskeletal joint dysfunction or spinal abnormalities (e.g., gibbus formation) should suggest mucopolysaccharidoses,
in which early skeletal studies for dysostosis multiplex,
even before overt clinical symptoms, can be extremely
helpful (see Table 30-7). Investigation for characteristic ophthalmologic findings (corneal abnormalities,
retinitis pigmentosa, optic atrophy, cherry-red macula)
is extremely important. Obviously, brain imaging can
be extremely helpful, especially if early findings of leukodystrophy are evident (Fig. 30-6; see also Fig. 30-5).
309
intellectual
disability
Organomegaly
Corneal
Clouding
Coarse
Facies
Dysostosis
Multiplex
DS, HS
DS, HS
DS, HS
+/
+
+
+
+
+/
+/
+
+
+
-l-Iduronidase
-l-Iduronidase
-l-Iduronidase
DS, HS
+/
Iduronate sulfatase
Accumulated
Compound*
HS
HS
+
+
+/
+/
+/
+/
+/
+/
C (MPS IIIC)
HS
+/
+/
+/
D (MPS IIID)
HS
+/
+/
+/
Morquio types
A (MPS IVA)
B (MPS IVB)
Maroteaux-Lamy
(MPS VI)
KS
KS
DS
+/
+/
+
+/
+/
+
+/
+
DS, HS, CS
Hyaluronan
+
+
Enzyme
Defect
Heparin N-sulfatase
-N-Acetylglucosaminidase
Acetyl-CoA:
-d-glucosaminide-N-acetyltransferase
N-Acetyl--d-glucosaminide-6-sulfatase
Galactose-6-sulfatase
-Galactosidase
Arylsulfatase B
(acetylgalactosamine-4-sulfatase)
-Glucuronidase
Hyaluronidase
*Accumulated
compounds: DS, dermatan sulfate; HS, heparan sulfate; KS, keratan sulfate; CS, chondroitin 4-sulfate and chondroitin-6 sulfate.
present (+), typically absent (); variably present (+/), usually mild if present.
generalized skeletal abnormalities are observed in Morquio type A, but they are not dysostosis multiplex.
Other skeletal findings, especially joints.
Modified primarily from Nyhan WL, Barshop BA, Ozand PT: Atlas of Metabolic Diseases, 2nd ed. New York, Oxford University Press, 2005, p 502.
Typically
Marked
310
Figure 30-7. Hunter syndrome (MPS II). This child with very mild
facial features was identified early by organomegaly and gibbus
formation.
Canavan Disease
This disorder is due to the absence of aspartoacylase activity, resulting in urinary excretion of N-acetylaspartic
acid, now available as a screening test for the disorder (request specifically as part of urine organic acid
analysis). Although infants appear normal at birth,
hypotonia and developing macrocephaly are usually
apparent within a few months, with worsening rather
than maturing neurologic functions. Imaging studies of
the brain demonstrate diffuse symmetric white matter
311
Figure 30-8. Sanfilippo B (MPS IIIB). The patient always had prominent eyebrows, thought initially to be more a familial trait. She was
evaluated for developmental delay at 3 years of age, presenting with mild hepatomegaly (left). The somewhat more evident facial coarsening
developed only at a much later age, when frank hepatomegaly and dysostosis multiplex were apparent (right).
Figure 30-9. Two forms of MPS I: -iduronidase deficiency. A, An adult woman with Hurler-Scheie or Scheie variant -iduronidase deficiency.
No evident dysmorphism with no apparent effect on CNS functioning until adulthood; she was initially evaluated as a child for joint stiffness
limiting movements. B, Classic Hurler disease. Note marked facial coarsening and extremity contractures at 3 years of age. The patient was
initially evaluated for gibbus deformity.
312
Smith-Lemli-Opitz Syndrome
An autosomal recessive disorder of cholesterol metabolism, Smith-Lemli-Opitz syndrome may be suspected in
children with overt dysmorphic features and multiple
congenital anomalies in which screening cholesterol levels are low (see Fig. 30-3). However, because the serum
cholesterol level may be in the normal range, measurement of the more specific plasma level of its precursor,
7-dehydrocholesterol, is indicated for consideration of
this disorder. This is performed by ordering laboratory
testing for plasma sterols by gas chromatographymass
spectrometry, which will identify patterns suggesting
not only Smith-Lemli-Opitz syndrome but also other
disorders of cholesterol metabolism (desmosterolosis,
lathosterolosis).
The dysmorphic and somatic features of SmithLemli-Opitz syndrome are often striking and may
include microcephaly, narrow forehead, ptosis, ophthalmologic findings including cataracts, abnormally positioned ears, broad anteverted nares, micrognathia with
varied palatal defects (high arched palate, cleft uvula,
abnormal alveolar ridges), syndactyly (especially digits
2 and 3 of the lower extremities), postaxial polydactyly of either upper or lower extremities and other limb
anomalies, varied cardiac and genitourinary abnormalities (ambiguous genitalia, male-female sex reversal,
cryptorchidism, inguinal hernia, renal cysts), increased
frequency of gastrointestinal anomalies (pyloric stenosis,
gastroesophageal reflux disease, Hirschsprung disease,
malrotation), adrenal abnormalities (both glucocorticoid
and mineralocorticoid deficiencies), and multiple others
at varying frequency. intellectual disability is the norm
among survivors. A variety of imaging abnormalities of
the brain have been observed, and any patient with findings consistent with holoprosencephaly sequence should
be tested for this disorder. Mutations in the gene encoding 7-dehydrocholesterol reductase have been identified.
This syndrome has variable clinical expression, ranging
from prenatal and neonatal deaths to subclinical cases
identified in family members of a propositus.
Current therapeutic approaches include supplementation of diets with cholesterol and rarely bile salts,
with modest results. Behavioral abnormalities with
autistic features may be present in patients with SmithLemli-Opitz syndrome, who may have mild to severe
dysmorphic and somatic features. Of note is that these
autistic behavioral abnormalities may be ameliorated
SUMMARY
Evaluation of developmental delay is usually both a process of recognizing distinct clues for laboratory testing
and a process of elimination of a wide range of metabolic disorders with overlapping features and extensive
variations in presentations. Table 30-1 lists findings suggestive of inborn errors of metabolism. Tables 30-2 and
30-4 may be useful guides for work-up considerations.
An excellent summary table is described in Cleary and
Green (2005).
From the history, decide which children have had
what might be considered intermittent acute neurologic
or metabolic collapses by presentations to hospitals
many organic acidemias (amino acid and organic acid
disorders), fatty acid oxidation and mitochondrial disorders, and urea cycle defects may be manifested this
way. Check plasma amino acid, ammonia, and lactate
concentrations and urine organic acid levels and consider others from Table 30-2.
Hypotonia and weakness are present in innumerable
conditions. However, remember to check creatine kinase, lactate, plasma amino acid, and urine organic acid
levels and to request acylcarnitine profile and possibly
carnitine studies as part of the initial screens.
Multisystem disorders to keep in mind are SmithLemli-Opitz syndrome (plasma sterol testing), peroxisomal disorders (very-long-chain fatty acids), congenital
disorders of glycosylation (transferrin isoform studies),
and mitochondrial disorders.
With more severe neurologic states (i.e., severe seizures, associated deafness and eye findings), consider
peroxisomal disorders (plasma very-long-chain fatty
acids), mitochondrial disorders (lactate and pyruvate,
urine organic acids), serum ceruloplasmin (Menkes syndrome) and uric acid (low in molybdenum cofactor and
sulfite oxidase defects; high in Lesch-Nyhan defect [selfmutilation]) determinations, CSF studies (lactate, pyruvate, amino acids, neurotransmitters), and magnetic
resonance spectroscopy.
Any organomegaly, facial coarseness, and joint or
spine abnormalities (i.e., gibbus deformation), even
slight, should suggest screening for mucopolysaccharidoses. In a male patient, consider the X-linked Hunter
syndrome enzymatic testing directly.
Abnormal behavior, acting out, difficulties at night
with sleep, and the like should lead one to consider enzyme testing for: MPS III (Sanfilippo B syndrome), if
the child is male, test for MPS II (Hunter syndrome),
succinic semialdehyde dehydrogenase deficiency (urine
organic acids), partial urea cycle defects (plasma amino
acids, ammonia, and urine for orotic acid), later onset
metachromatic leukodystrophy (arylsulfatase A), and
X-linked adrenoleukodystrophy (very-long-chain fatty
acids). Consider also screens for creatine disorders (urine
and magnetic resonance spectroscopy) and homocystinuria (cofactor forms).
313
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Clarke JTR: A Clinical Guide to Inherited Metabolic Diseases. New
York, Cambridge University Press, 1996.
Cleary MA, Green A: Developmental delay: When to suspect and how
to investigate for an inborn error of metabolism. Arch Dis Child
90:1128-1132, 2005.
Fernandes J, Saudubray JM, van den Berghe G: Inborn Metabolic
Diseases: Diagnosis and Treatment, 3rd ed. New York, SpringerVerlag, 2000.
Gilbert-Barness E, Barness L: Metabolic Diseases: Foundations of
Clinical Management, Genetics, and Pathology. Natick, MA,
Eaton Publishing, 2000.
Hoffmann GF, Nyhan WL, Zschocke J, et al: Inherited Metabolic Diseases. Philadelphia, Lippincott Williams & Wilkins, 2002.
Leonard JV, Morris AAM: Diagnosis and early management of inborn
errors of metabolism presenting around the time of birth. Acta
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Moeschler JB, Shevell M; American Academy of Pediatrics Committee
on Genetics: Clinical genetic evaluation of the child with mental
retardation or developmental delays. Pediatrics 117:2304-2316,
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Nyhan WL, Barshop BA, Ozand PT: Atlas of Metabolic Diseases. 2nd
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Schaefer GB, Lutz RE: Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med 8:549-556, 2006.
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and
Molecular Bases of Inherited Disease, 8th ed. New York, McGrawHill, 2001.
Smith W, Kishnani PS, Lee B, et al: Urea cycle disorders: Clinical presentation outside the newborn period. Crit Care Clin 21:S9-S17,
2005.
Wappner RA, Hainline BE: Introduction to inborn errors of metabolism. In McMillan JA (ed. in chief): Oskis Pediatrics: Principles and Practice, 4th ed. Philadelphia, Lippincott Williams and
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Winter SC, Buist NRM: Clinical treatment guide to inborn errors of
metabolism 1998. J Rare Dis 4:18-46, 1998.
31
TOXINS
Fred M. Henretig
Chapter 31 Toxins
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316
Alcohol
Chronic, heavy alcohol consumption during pregnancy
may result in a constellation of congenital anomalies
termed the fetal alcohol syndrome (Stratton et al, 1996).
Alcohols toxic effects are likely due to several mechanisms, including interference with neuronal migration,
impaired development and function of neurotransmitter
receptors, and actual neuronal necrosis (apoptosis).
Major features of fetal alcohol syndrome include intrauterine growth restriction, intellectual disability,
and facial dysmorphogenesis (microcephaly, short palpebral fissures, epicanthal folds, maxillary hypoplasia,
cleft palate, hypoplastic philtrum, and micrognathia;
Fig. 31-1). Fetal alcohol syndrome is usually associated
with the consumption of 2 to 3 ounces of ethanol per
day (e.g., four to six standard drinks of hard liquor
or its equivalent) or binge drinking (five or more drinks
on one occasion). It is estimated that 4% of women who
drink to this degree during pregnancy will give birth to
children with fetal alcohol syndrome (Fine, 2006).
In the absence of frank growth retardation or congenital anomalies (e.g., fetal alcohol syndrome), several
studies have found children born to women who drink
heavily during pregnancy at increased risk for developmental deficits (American Academy of Pediatrics, 1993).
Various terms have been applied to these milder syndromes of fetal alcohol effects, including partial fetal
alcohol syndrome and alcohol-related neurodevelopmental disorder (Mendola et al, 2002; Stratton et al, 1996).
Figure 31-1. Fetal alcohol syndrome. This 8-year-old girl was born
to a chronically alcoholic woman. She is mildly retarded and growth
deficient with facial features typical of fetal alcohol syndrome (short
palpebral fissures, flat nasal bridge with epicanthal folds, long smooth
philtrum with thin upper lip). (From Graham JM Jr: Manual for the
Assessment of Fetal Alcohol Effects. Seattle, University of Washington
Press, 1982.)
These have included milder anomalies and attentiondeficit/hyperactivity disorder, fine motor impairment,
clumsiness, and subtle speech disorders. The spectrum of
disorder probably represents the degree of ethanol exposure and its timing, with the full fetal alcohol syndrome
representing teratogenic effects resulting from exposure
that was heavier and earlier in pregnancy. It has been
difficult to define a precise threshold for toxicity because
of the many confounding factors already mentioned. In
addition, alcohol consumption has often been characterized as average number of drinks per day, without always distinguishing binge drinking (which is more likely
to result in higher blood alcohol levels) from daily social drinking (e.g., a glass of wine with dinner, which is
less likely to result in toxic blood levels). Current dogma
proscribing any ingestion of alcohol during pregnancy
may be counterproductive, raising unnecessary guilt in
otherwise healthy mothers who drink sparingly, and
fails to focus on the real problem of chronic alcoholism
with its attendant comorbidity on the fetus produced by
malnutrition, smoking, medical illness, and so on. Nevertheless, the American Academy of Pediatrics (1993)
recommends that pregnant women and those planning a
Cigarettes
Cigarette smoke contains the toxins nicotine and carbon
monoxide as well as numerous other potentially toxic
compounds (e.g., aromatic hydrocarbons). Prenatal
Chapter 31 Toxins
Cocaine
Maternal cocaine use is highly related to numerous catastrophic complications of gestation and the perinatal
period (Volpe, 1992). Major CNS anomalies, intracranial hemorrhages, abruptio placentae, and decreased
birth weight and head circumference are seen, presumably secondary to the peripheral vasoconstrictive and
central monoaminergic effects of this potent drug. Less
drastic postnatal effects have also been observed in infants with prenatal exposure. In the neonatal period,
some such infants have increased tremulousness, poor
feeding, irritability, abnormal sleep pattern, and, occasionally, seizures. Older cocaine-exposed infants do not
regularly exhibit persistent cognitive deficits on standard tests (e.g., Bayley Scales of Infant Development)
in comparison to appropriate control infants. However,
there is some evidence for the association of prenatal
cocaine exposure with deficits in fine and gross motor
development and negative impact on school-age behaviors (Bada et al, 2007; Mendola et al, 2002).
Marijuana
In general, light to moderate use of marijuana during
pregnancy has not been clearly associated with subsequent cognitive deficits. One study found an exposure of
one or more joints per day, but not lesser use, during
the third trimester of pregnancy to be associated with
a 10-point deficit on Bayley Scales of Infant Development at the age of 9 months. This effect was no longer
apparent at 19 months of age (Richardson et al, 1995).
Other evidence has suggested some deficits in executive
functions, including visuospatial analysis and attention, despite the absence of significant changes in IQ
(Mendola et al, 2002).
Opiates
The most profound effect of prenatal opiate exposure
is the neonatal withdrawal syndrome (see the section
on neonatal withdrawal syndrome). Long-term studies
of cognitive function in older children born to heroinaddicted or methadone-maintained mothers are inconsistent in their findings. Postnatal environmental influences
seem to be important in the intellectual outcome. For
example, heroin-exposed children tend to show cognitive deficits, whereas children born to mothers provided
317
comprehensive prenatal care in a methadone maintenance clinic do not. Similar differences are noted in
comparing infants born to heroin-addicted mothers
who are subsequently raised at home with their birth
parents versus those who are adopted (Ornoy, 2003).
However, some deficits in attention and behavioral issues remained, even in the adopted children.
Polychlorinated Biphenyls
Polychlorinated biphenyls (PCBs) and related compounds (polychlorinated dibenzofurans and polychlorinated dibenzodioxins, or dioxins) are a large group of
chemicals that were used widely in industry from the
1930s to 1970s as insulators and lubricants in electrical
equipment. They have been banned in the United States
and most Western countries since the 1970s, but they
have persisted in the environment, particularly as oils
that pollute water supplies, which are then consumed by
aquatic organisms and become concentrated increasingly
in animal tissue as they progress up the food chain. Being
fat-soluble chemicals, they tend to occur in greatest
concentration in beef, dairy products, and fish that are
relatively high in fat (Schmid and Rotenberg, 2005).
The adverse effects of PCBs were first recognized
after high-dose prenatal exposures resulted in epidemics of severe toxicity, in this case occurring in Japan in
1968 and Taiwan in 1979 from contaminated cooking
oil. Children exposed in utero were noted to have a variety of developmental defects, including reduced birth
weight, deformed nails, gingival hypertrophy, and subsequent IQ deficits bordering on intellectual disability.
Later studies found that more subtle but pervasive effects were associated in childhood with prenatal PCB
exposure at background exposure levels in populations
from Michigan, North Carolina, and Europe. These included memory and attention deficits, decreased verbal
abilities, and adverse behavioral and emotional effects.
Elevated maternal PCB levels are associated with decreased maternal thyroid function, which may in part
explain the associated negative effects of PCBs on infant
neurocognitive development (Stein et al, 2002).
Obstetric Anesthesia
A number of drugs are considered for administration to
women during labor, including analgesics, anxiolytics,
and labor-inducing and, conversely, tocolytic agents.
Many of these are associated with potential neonatal behavioral effects (Hoyer, 2002).
A popular drug for maternal analgesia during labor
has been meperidine. However, the slow placental transfer and subsequent metabolism of this compound by the
fetus allow considerable accumulation. Thus, infants
born between 1 and 4 hours after meperidine administration to the mother are likely to experience significant
CNS depression. This eventuality can be managed with
supportive care and naloxone, 0.01 to 0.1 mg/kg, administered intramuscularly or intravenously (start with
0.01 mg/kg; if no effect, use 0.1 mg/kg).
Both systemic analgesics and regional anesthetic
agents have also been shown to have significant effects
on newborn behavior. Decreased motor maturity and
increased irritability have been noted at 3 days of age
318
Opiates
Classic features of neonatal opioid withdrawal include
wakefulness, jitteriness, irritability that is inconsolable,
tremor, hypertonicity and hyperreflexia, vomiting, diarrhea, poor feeding, and failure-to-thrive. Severe cases
can be rarely accompanied by seizures. Most infants of
heroin-addicted women display symptoms early, 65% in
the first 24 hours of life. Withdrawal in infants born to
mothers taking methadone is manifested slightly later,
usually on the second or third day of life, and the duration of the symptoms tends to be longer. Although methadone withdrawal is generally less severe, these infants
are more likely to exhibit disturbed feeding patterns and
failure to gain weight. Both heroin- and methadoneaddicted infants show lower than average gains in development on follow-up testing, although the consensus
among researchers is that these differences are probably
related more to covariables, such as poverty and malnutrition, than to drug effects per se. Management of
acute neonatal opioid withdrawal includes swaddling,
hypercalorie diets, and, for severe cases, pharmacologic
treatment. Breastfed neonates may be less likely to require pharmacologic treatment than are those who were
bottle fed. The American Academy of Pediatrics recommended tincture of opium as first-line pharmacotherapy
for neonates with opiate withdrawal, and phenobarbital
for neonatal sedative-hypnotic withdrawal, in its 1998
statement (American Academy of Pediatrics, 1998).
Many authorities currently use oral morphine sulfate or
methadone interchangeably with tincture of opium. Phenobarbital can be helpful as an adjunct in severe cases
or in situations in which opioid addiction is complicated
by barbiturate or sedative-hypnotic abuse.
Other Drugs
Neonatal withdrawal from short- and long-acting barbiturates, benzodiazepines, tricyclic antidepressants, other
sedative-hypnotics, and alcohol is also well described.
These syndromes share features of opiate withdrawal
and, in particular, can be associated with seizures. Onset varies with the pharmacologic characteristics of the
agents (e.g., early for alcohol and short-acting barbiturates; later for phenobarbital). Most such infants can
be successfully managed with phenobarbital and supportive care.
Chapter 31 Toxins
Lead
Extent of Problem
Lead poisoning, currently defined by the Centers for
Disease Control and Prevention (CDC) as blood lead
levels in excess of 10 g/dL, still affects more than
300,000 American children aged 1 to 5 years despite
decades of prevention efforts (CDC, 2002). Although
recent surveys have found a significant decline in average U.S. lead levels, presumably because of decreased
environmental contamination by airborne lead derived
from leaded gasoline and decreased use of lead solder
in canned foods, pockets of excessive lead contamination still persist among inner-city, impoverished, minority children. For example, children enrolled in Medicaid
have an incidence of lead poisoning three times higher
than that of those not enrolled. In addition, refugee, immigrant, and foreign-born adopted children remain at
especially great risk. Children from lower risk groups
who reside in older homes with deteriorated paint may
also be found to have elevated lead levels. Thus, the
number of potential victims of lead-induced effects is
still considerable.
Lead sources are numerous, including automobile
exhaust emissions, industrial waste, and widespread
contamination from deterioration of surfaces painted
with lead-based paint (Fig. 31-2). Additional sources
include battery casings burned as fuel, dirt and dust in
contaminated areas that rest on childrens hands and
toys, occasional food or water contamination (especially if improperly glazed ceramic cups or plates are
used), and lead dust and particles on parental clothing from occupational exposure. Children are more
Figure 31-2. A typical inner-city row house with peeling lead paint.
(C
ourtesy of Carla Campbell, MD, and
Philadelphia Department
of
Public Health, Philadelphia, PA.)
319
of Radiology,
320
and found that blood lead levels were inversely correlated with IQ scores at 3 and 5 years of age and that
the magnitude of this decrement was 4.6 points for each
10g/dL increase in blood lead level. Of particular concern, this effect was even greater for children in the lowest (1-10 g/dL) range (Canfield et al, 2003).
Although there may always be some slight doubt
about the causal relationship between low lead exposure and cognitive effects, the studies of the past decade
meet many if not most of the usual criteria for relating
causality to epidemiologic associations: temporal relationship, strong statistical association, dose-response
gradient, control for confounding variables, consistent
findings across studies, and biologic plausibility. The
cumulative weight of these prospective studies adds to
the conviction that occult lead poisoning is a significant
cause of cognitive deficits.
Pediatric Management
Current recommendations for prevention and screening of children at risk have been summarized (CDC,
2002). Children with a high priority for annual screening include those aged 1 to 3 years (up to 6 years if
not previously screened) who live in high-risk, innercity communities; siblings or playmates of children with
known lead poisoning; children who live in or near
older homes, especially if they are undergoing renovation; and any child with additional specific exposure
risks based on cultural or family occupational criteria
(see Table 31-2).Additional at-risk groups who are seen
for common pediatric problems include children with
acute accidental ingestions and those presenting with
foreign bodies in the ears, nose, or throat. Intervention
should include prompt termination of lead exposure,
although this is often difficult to enforce. It is extremely
important to remove children from exposure during
active lead removal programs.
The overall treatment of lead poisoning is detailed
elsewhere (American Academy of Pediatrics, 1995;
CDC, 2002; Henretig, 2006) but briefly summarized
here. All at-risk children should be screened (Table 31-1),
and those with elevated lead levels should have close
monitoring and follow-up (Table 31-2) and be provided
educational and environmental interventions as ap
propriate (Table 31-3). Treatment of asymptomatic pa
tients with lead levels greater than 45 g/dL is generally
agreed on by most authorities; however, the value of
chelation therapy to modify the possible neurobehavioral toxicity is unproved. The oral chelating agent
succimer (2,3-dimercaptosuccinic acid) has been used
increasingly, with an exceptional safety profile, and this
agent is currently the drug of choice for asymptomatic
patients with lead levels of 45 to 69 g/dL. The National
Institutes Health sponsored a prospective, placebocontrolled study of succimer chelation therapy in
asymptomatic children with blood lead levels of 20 to
44 g/dL that found only modest efficacy of succimer in
reducing blood lead levels when they were tested 1 year
after therapy initiation. Furthermore, cognition, neuropsychiatric function, and behavior were not benefited by
treatment when they were studied at 3 years after enrollment (Rogan et al, 2001) or at 7 years (Dietrich et al,
Chapter 31 Toxins
Clinical Findings
Severe
Usual Blood
Lead Levels
(g/dL)
>70-100
Mild-Moderate
50-70
Asymptomatic
0-49
Follow-up
Venous Blood
Lead Level
(g/dL)
<9
2004). Currently, the American Academy of Pediatrics and the CDC recommend aggressive environmental remediation and optimization of nutritional status
(Table 31-3), without routine chelation therapy, for
such children (CDC, 2002).
10-14
15-19
20-44
Mercury
Another heavy metal with the potential for significant
neurotoxicity and widespread human exposure is mercury. Severe elemental mercury and inorganic mercury
salt poisoning (responsible for pink disease, or acrodynia,
from mercurous chloride teething lotions or diaper powder) has become rare. However, a more insidious concern is that of chronic exposure to organic mercurials,
particularly methylmercury, resulting from contamination of the food chain. Large outbreaks have occurred in
Minamata Bay, Japan, from eating fish contaminated by
factory waste discharged into the bay and in Iraq from
contaminated bread baked from grain treated with methylmercury as a fungicide (Schmid and Rotenberg, 2005).
Severe CNS effects occurred in both instances, with a
particular susceptibility noted in the fetuses of poisoned
pregnant women (almost 30% of children born during
the height of the Minamata Bay epidemic had moderate
or severe developmental disabilities).
Recent concern has centered, as for lead, on more
subtle neurocognitive effects that may be attributed
to chronic low-level mercury exposure through fish or
other food consumption (Mendola et al, 2002; Schmid
and Rotenberg, 2005). For example, a large study in
the Faroe Islands identified deficits in pediatric cognitive function, particularly language, memory, and attention, occurring at levels of prenatal mercury exposure
321
45-69
70
Management Overview
Retest in 6 months; parental education
(see Table 31-3)
Retest in 3 months; education; refer to health
department for case management
Retest in 6 weeks; refer to health department
for case management; education;
environmental investigation and control
Retest in 1-2 weeks; refer to health
department for case management; clinical
evaluation; education; environmental
investigation and control
Within 48 hours: retest; clinical evaluation;
chelation therapy with oral succimer or
intravenous calcium disodium edetate;
refer to health department for case
management; education; environmental
investigation and control
Emergently hospitalize child and retest;
immediate chelation therapy, typically with
intramuscular dimercaprol and intravenous calcium disodium edetate; refer to
health department for case management;
education; environmental investigation and
control
Modified from Centers for Disease Control and Prevention: Managing Elevated
Blood Lead Levels Among Young Children: Recommendations from the
Advisory Committee on Childhood Lead Poisoning Prevention. Atlanta, GA,
Centers for Disease Control and Prevention, 2002.
322
Other Metals
Aluminum, arsenic, thallium, and manganese are additional, rare causes of neurotoxicity that more typically is
manifested as overt encephalopathy, along with varying
associated features, rather than by subtle developmental
effects. These uncommon metal poisonings are reviewed
in detail along with specific recommendations for management in reference toxicology texts.
Pesticides
The term pesticide denotes a broad group of heterogeneous compounds that are used to prevent, to repel, or to
kill pests, especially insects but also rodents, nematodes,
fungi, and unwanted plants (e.g., herbicides). In this discussion, the focus is primarily on the organophosphorus
insecticides, which as a group have significant mammalian toxicity in acute overdose and also have raised concern for subtle neurocognitive effects in children from
background, low-level chronic exposure.
The organophosphates are acetylcholinesterase inhibitors, thereby disrupting normal cholinergic neurotransmitter function. In overt poisonings, they cause
an acute toxidrome that is well recognized and characterized by profound CNS disturbances, ranging from
lethargy to coma or seizures, and cholinergic symptoms including bronchospasm, bronchorrhea, and several additional muscarinic effects often recalled by the
mnemonic SLUDGE (salivation, lacrimation, urination,
defecation, gastrointestinal cramping, and emesis). Such
patients may have life-threatening illness and are typically treated with atropine and pralidoxime for the acute
overdose (Osterhoudt et al, 2006).
These agents are used widely in the home, in the
home garden, and for agricultural applications and as
such are accessible to children through dermal, oral,
and inhalational routes. A national survey of human
exposure to multiple environmental pollutant chemicals
in 1999-2000, by the CDC, found that children aged
6 to 11 years had urine organophosphate metabolite
levels that were twice as high as those of adults aged
20 to 59 years. Although concern for chronic, low-level
pesticide exposure is significant (e.g., the U.S. Congress
passed the 1996 Food Quality Protection Act to restrict
Chapter 31 Toxins
Inhalational Toxins
Both the accidental or intentional acute exposure to
carbon monoxide and the chronic inhalation abuse of
various solvents have been associated with CNS syndromes. Chapter 45 provides a more detailed discussion
of adolescent substance abuse.
323
Carbon Monoxide
SUMMARY
Exposure to carbon monoxide fumes is the most common cause of death from poisoning in the United States,
accounting for 3500 to 4000 fatalities per year. Many
cases are secondary to smoke inhalation from house
fires, although a clinically important and more challenging group to recognize includes individuals with subtle
neuropsychiatric or systemic afebrile flulike symptoms, or both, resulting from faulty furnaces, automobile exhaust, improperly vented water heaters, kerosene
heaters, and so on. One study in the Childrens Hospital
of Philadelphia emergency department found a surprisingly high incidence (nearly 30%) of carbon monoxide
exposure during the winter months in just such a group
of 46 patients (Baker et al, 1988).
Toxicity of carbon monoxide is mediated primarily
by cellular hypoxia. It decreases oxygen delivery by
binding to hemoglobin to form carboxyhemoglobin
and by shifting the oxyhemoglobin dissociation curve
to the left; it can also bind to mitochondrial cytochrome
oxidase and inhibit cellular respiration as well. As
such, carbon monoxide poisoning especially affects organs most susceptible to hypoxia: the heart and brain.
In acute, severe exposures, patients may have coma,
convulsions, cardiovascular collapse, and respiratory
failure. Many survivors (up to 40%) of severe carbon
monoxide poisoning have neuropsychiatric sequelae.
The effects of severe but nonlethal carbon monoxide
exposure on pregnant women can also be manifested as
fetal demise or cerebral palsy in the infant. Prolonged
low-dose exposure through cigarette smoking (which
can produce carboxyhemoglobin levels of 5% to 15%)
in pregnancy has been associated with lower birth
weights and increased neonatal mortality rates. The
mainstays for treatment of acute carbon monoxide poisoning are immediate removal from exposure, provision
of appropriate supportive care and 100% oxygen, and
consideration, if feasible, of the use of hyperbaric oxygen therapy for selected patients, especially those who
are pregnant (Fine, 2006).
Children are uniquely vulnerable to toxic influences because of relatively increased exposure, immaturity of
physiologic processes, and the prolonged developmental timeline of the human nervous system. A number of
environmental toxic hazards are well substantiated, and
many more are under investigation. Unfortunately, much
of the data supporting such associations is derived from
human epidemiologic studies or from animal models.
Each of these is somewhat difficult to extrapolate to individual clinical encounters. Nevertheless, pediatricians
must strive to stay current with environmental research
and be able to apply that scholarship and reasonable interpersonal judgment to counsel families on the potential
consequences of clinical exposures, to mitigate guilt and
anxiety that are unreasonable, and to provide or to refer
for appropriate therapy when such is available.
Solvents
The general background for intentional inhalant abuse
is discussed in Chapter 45. Several organic solvents have
been associated with CNS sequelae, particularly toluene
REFERENCES
Alpert JJ, Zuckerman BZ: Alcohol use during pregnancy: WHAT is
the risk? Pediatr Rev 12:375-379, 1991.
American Academy of Pediatrics, Committee on Substance Abuse and
Committee on Children with Disabilities: Fetal alcohol syndrome
and fetal alcohol effects. Pediatrics 91:1004-1006, 1993.
American Academy of Pediatrics, Committee on Drugs: Treatment
guidelines for lead exposure in children. Pediatrics 96:155-160,
1995.
American Academy of Pediatrics, Committee on Drugs: Neonatal
drug withdrawal. Pediatrics 101:1079-1088, 1998.
American Academy of Pediatrics, Committee on Drugs: The transfer of drugs and other chemicals into human milk. Pediatrics
108:776-789, 2001.
Bada HS, Das A, Bauer CR, et al: Impact of prenatal cocaine exposure
on child behavior problems through school age. Pediatrics
119:e348-e359, 2007.
Baker MD, Henretig FM, Ludwig S: Carboxyhemoglobin levels in children with nonspecific flu-like symptoms. J Pediatr 113:501, 1988.
Bellinger D, Leviton A, Waternaux C, et al: Longitudinal analyses
of prenatal and postnatal lead exposure and early cognitive
development. N Engl J Med 316:1037, 1987.
Byrd RS, Howard CR: Childrens passive and prenatal exposure to
cigarette smoke. Pediatr Ann 24:640-645, 1995.
Canfield RI, Henderson CR, Cory-Slechta DA: Intellectual impairment
in children with blood lead concentrations below 10 g per
deciliter. N Engl J Med 348:1517-1526, 2003.
324
Part IV
GENERAL PHYSICAL
ILLNESSDEVELOPMENTALBEHAVIORAL aspects
Vignette
After breakfast, Sally Smith calls her friend Martha to see how her 2-year-old son Michael is doing
with his ear infection. Martha is trying to get some sleep following a difficult night combating
Michaels fever. Sally reassures her that the fever is only a symptom and not the disease itself, but
the doctor has repeatedly impressed on Martha the importance of keeping the fever down. He has
told her about the harmful effects of the fever itself and about the likelihood of continuing rise with
possible seizures and brain damage if it is not reduced promptly. She has sponge-bathed him and
given him antipyretics intermittently throughout the night because the doctor told her that a good
parent should do that. The boy cried throughout the sponging. Martha was exhausted and fell asleep
at about 4 am. She feels guilty and inadequate.
326
Effects of Stressors
The effect of acute minor illness on childrens behavior, although well known to parents and clinicians, has
scarcely been studied. Various possible behavioral reactions, such as dependency, withdrawal, irritability, rebelliousness, and feelings of inferiority, have been reported,
but a comprehensive, systematic delineation of these reactions and their determinants and consequences is still
awaited. The childs temperament influences hisor her
experience of the illness and reactions to it (Fig. 32-1),
which are likely to affect the clinical manifestations and
outcome (see Chapter 7).
The parents may also suffer from fears and anxieties,
anger, guilt, fatigue, depression, distortions, and misconceptions. They are expected to master these feelings
and to adjust sufficiently to meet their childs needs. Ineffective responses may consist of inappropriate feelings
or lack of understanding (such as too much or too little
anxiety, persistent misconceptions about the illness or
its treatment, or an excessive sense of personal injury)
or inability to muster appropriate behavior to deal with
the illness (such as difficulty in carrying out a reasonable share of the treatment process in conjunction with
the physician, as evidenced by noncompliance with the
treatment plan).
It seems likely that minor illness and its management
account for only a small portion of the more chronic behavioral variations and problems in children, yet these
effects are real and must be acknowledged and dealt
with. Any experienced pediatrician can think of striking examples of unfavorable outcomes, such as the child
who is treated by the parents for years as a semi-invalid
because a physician had felt compelled to reveal and to
stress the existence of a functional heart murmur without considering or assessing the impact of this information on the child and the parents, or the child who is
made to feel guilty or inadequate because of recurrent
respiratory or urinary infections.
On the other hand, as Parmelee (1997) has observed,
it is possible that childhood illnesses not only aid the
process of the development of social competence and
a healthy personality, but they may be necessary for
this process. In turn, social competence and a healthy
personality provide us the greatest capacity for coping
with illness. The recurring experience of minor illnesses
furnishes children with a multitude of opportunities to
broaden their knowledge of themselves, of their caregivers, and of the relationships between them. Positive
outcomes can include enhanced social competence and
self-assurance.
327
328
SUMMARY
The average American pediatrician spends about
half of his or her time dealing with minor illnesses,
yet problems in development and behavior related to
REFERENCES
Carey WB, Sibinga MS: Should pediatricians provide medical care for
their friends children? Pediatrics 42:106, 1968.
Carey WB, Sibinga MS: Avoiding pediatric pathogenesis in the management of acute minor illness. Pediatrics 49:553, 1972.
Crocetti M, Moghbeli N, Serwint J: Fever phobia revisited: Have parental misconceptions about fever changed in 20 years? Pediatrics
107:1241, 2001.
Cunningham AS: Beware overtreating children. Am J Dis Child
143:786, 1989.
Freud A: The role of bodily illness in the mental life of children.
Psychoanalytic Study Child 7:69, 1952.
Heymann SJ, Earle A, Egleston B: Parental availability for the care of
sick children. Pediatrics 98:226, 1996.
Parmelee AH Jr: Illness and the development of social competence.
J Dev Behav Pediatr 18:120, 1997.
Richtsmeier AJ, Hatcher JW: Parental anxiety and minor illness. J Dev
Behav Pediatr 15:14, 1994.
Schmitt BD: Fever phobia: Misconceptions of parents about fevers.
Am J Dis Child 134:176, 1980.
Sibinga MS, Carey WB: Dealing with unnecessary medical trauma to
children. Pediatrics 57:800, 1976.
33
HOSPITALIZATION, SURGERY,
AND MEDICAL AND DENTAL
PROCEDURES
Ellen C. Perrin and Deborah Shipman
In 2000, children and adolescents 1 to 17 years old accounted for 5% of hospital stays in the United States.
More and more hospitalizations of children are the
result of trauma or are associated with the management of a chronic physical illness. Children with acute
illnesses are often cared for outside the hospital, and
many elective surgical procedures are performed in daysurgery units. These changes have come about largely
as a result of efforts to contain escalating health care
costs but also in part because of the recognition among
health care professionals and parents that hospitalization itself is associated with extra stresses to children
and their families that may be avoided by alternative
methods of care.
In addition to hospitalization, children and adolescents experience stress from outpatient medical procedures and surgery and even routine visits to the dentist.
All of these represent an underlying loss of control and an
alteration in the rhythms of a childs everyday life. Even
routine venipuncture at the time of a yearly health maintenance visit can cause anxiety in children. Outpatient
or day surgery has become the norm for many routine
surgical procedures, including such common procedures
as placement of myringotomy tubes and dental surgery.
The increased number of these types of procedures has
led to an increased recognition of the needs of children
before, during, and after these traumatic events. The
need for parental involvement has been increasingly recognized as vital in preparing a child for and supporting
the child through medical procedures.
Major changes in hospital structure, design, and policies have created an environment that is increasingly
supportive to children and families and have radically
altered the experience of hospitalization during the past
half-century (Thompson, 1986). A great deal of literature has become available for parents and for children
to prepare them for hospitalization, and many medical centers provide tours and preparation programs for
children anticipating surgery and hospitalization. Wards
and patient rooms are designed more appropriately,
and play space, appropriate recreation, and Child Life
programming are often available. Hospital policies generally allow and even encourage siblings and friends to
visit and one or both parents to room-in with children
(in a few states, such policies are formally legislated).
SOURCES OF STRESS
General
In their interaction with the world of medicine, young
children often have difficulty understanding what is
happening to them. When they are ill, they do not understand what part they have had in causing or controlling the illness or why hospitalization and the associated
painful procedures are necessary. Young children cannot
comprehend the reasons for such traumatic impositions
as separation from their parents, being forced to live
temporarily in a strange and sterile environment, having
to endure painful procedures (sometimes even with the
assistance of their parents), and the pain and discomfort
that may be associated with the condition itself. Children up to school age may confuse their condition and
their hospitalization with some form of immanent justice (e.g., retribution for a rule they have disobeyed or
for unacceptable thoughts or activities).
As children get older, their ideas about the causation of illness become more sophisticated, but they do
not understand the complexity of the mechanisms of
disease and health until well into adolescence (Perrin
and Gerrity, 1981). Their limited understanding of illness and its management results in complicated distortions and bizarre notions of their own ability to affect
the onset and outcome of the illness (Schonfeld, 1996).
Because health care professionals do not necessarily
predict accurately how and what children understand
about their illness and its treatment, it is helpful to review with children their conceptions and misconceptions to avoid maladaptive responses (Perrin and Perrin,
1983). No matter what else is occurring related to medical care, children experience, both in reality and in their
fantasy, a frightening loss of control. In that children
have a greater belief than do adults in the effectiveness
of powerful others (usually adults) in determining their
health and well-being, they are especially vulnerable to
the ineffectiveness of their own actions and wishes.
330
Surgery
The effects of anesthesia and surgery on childrens
development have been studied extensively. These
medical procedures can affect childrens cognitive,
emotional, and behavioral development. A high level
of preoperative anxiety is one of the most important
factors in predicting the development of such disorders
as enuresis, sleep disturbances, and changes in mood
(Calda et al, 2004). Higher levels of anxiety before
surgery have direct physiologic effects that cause poor
wound healing and susceptibility to infection (McCann
and Zeev, 2001). Children who experience greater levels of anxiety before surgery are at risk for increased
pain and general poor cooperation with medical staff
(Kain et al, 2006). The level of parental anxiety also
contributes to outcomes and is equally important to
address before surgery (Melnyk and Feinstein, 2001).
An examination of risk factors that predict higher
stress levels should be undertaken to identify children
at greatest risk and to tailor preoperative procedures
appropriately.
Hospitalization
Admission to a hospital is disruptive and bewildering;
even after multiple admissions, children report anxiety
about and discomfort from the process of entering this
strange and frightening world (Table 33-1). The child
who is admitted to a hospital is separated from the usual
surroundings and routines of his or her everyday life: the
support and care of parents, everyday interactions with
siblings, school life, and social and sports activities with
friends. These interruptions are frequently unplanned,
are usually unpleasant, and interfere with childrens efforts to maintain autonomy and control. In addition,
they generally occur when the child is already anxious
and uncomfortable or in pain related to the illness or
trauma that precipitated the hospitalization. Even for
the few children with severe chronic illnesses who spend
many days in the hospital, their smoother adjustment to
hospital life and routines comes at a cost in disruption
of normal social and emotional development.
At the time of hospitalization, children encounter
new routines and new adult caretakers and meet other
children with a variety of medical problems. They are
automatically thrown into a bizarre and unfamiliar environment in which even the most basic functions, such
as eating and sleeping, are different from their normal
pattern and are under someone elses control. They are
introduced to a variety of new technologic equipment
and all of the flashing lights and beeps that go with
these devices. They may undergo a number of procedures that begin during the process of being admitted to
the hospital; these are at the least unfamiliar and often
accompanied by discomfort or pain. Almost every child
is subjected to poking and pricking, physical restraints,
dietary changes, restriction in activity, and perhaps
isolation.
EFFECTS ON CHILDREN
Most children who are hospitalized with current hospital procedures are able to cope effectively without any
lasting effects on their behavior (Vernon and Thompson,
1993). Children in the most vulnerable age groups, those
in whom the preexisting nurturing relationships are tenuous, and those for whom the detrimental or frightening
effects of the illness or trauma are overwhelming may
cope poorly and require extra attention.
Sleep disturbances
Aggressiveness, acting out
Fear of physicians and nurses
Depression
Encopresis
There has been extensive investigation of the psychological impact of hospitalization. The initial work
focused primarily on the effects of the separation from
parents that accompanied a hospital stay (Douglas,
1975) and began to explore childrens fears about their
body integrity when faced with surgery or extended illness (Davenport and Werry, 1970). Through the 1970s,
there were many further elaborations of the vulnerability of children to the many unique stresses of hospitalization and descriptions of the character, extent, and
longevity of the behavioral evidence of childrens subsequent distress (Gabriel and Danilowicz, 1978; Quinton and Rutter, 1976; Vernon et al, 1975). Since the
late 1970s, a large number of interventions have been
designed to prevent or to ameliorate childrens distress.
Most evaluations have concluded that such programs
are beneficial, as evidenced by less maladaptive behavior
after hospitalization, more rapid physiologic signs of recovery, and growth in both knowledge and understanding (Watson and Visram, 2003).
Emotional difficulties are greatest among children
between 6 months and 6 years of age and increase
markedly if hospitalization is long or recurs frequently.
Parents and teachers of children recently hospitalized
report behavior problems suggestive of difficulties
with separation, fearfulness, and regression (Table
33-2) (Thompson and Vernon, 1993). The number of
children who demonstrate behavior problems in this
period is greater among children with two or more
admissions or who stayed in the hospital more than
2 weeks than among those with a single or a shorter
admission. Because children with chronic illnesses
are likely to be admitted to hospitals more frequently
and to stay longer than generally healthy children, it
is possible that these findings are confounded with
the known increased prevalence of behavior problems in children with chronic illnesses (Perrin et al,
1993). Davenport and Werry (1970) found no effects of hospitalization 2 weeks after hospital stays
of less than 48 hours. There is a direct relationship
between difficulties with adjustment after discharge
and the amount of visiting the child is allowed (and
therefore the amount of separation the child experiences while in the hospital). Studies comparing inpatient treatment with day surgery or outpatient
care have demonstrated that although medical outcome was equivalent, hospitalized children displayed
higher levels of overall psychological upset than did
the group treated on an outpatient basis (Scaife and
Campbell, 1988).
331
Childrens prior experience with illness and hospitalization (their own, their peers, or family members)
informs their reactions to hospitalization and procedures. It is often helpful to understand childrens recent
experiences or memories to help them separate their
current experience from other experiences. Childrens
intelligence and temperamental style also contribute to
their ability to manage and to cope with the stresses and
threats they confront in hospitalization. Parents can often be helpful in anticipating childrens usual reactions
to new circumstances, painful or threatening procedures, and separations. Commercially available books
and videotapes may guide parents in their support of
their children (Perrin and Starr, 2000).
Parents attitudes toward the childs illness or condition, and their own experiences with hospitalization
and illness, may also profoundly influence their childs
reaction to hospitalization and the childs ability to cope
with it. Parents for whom the illness or trauma and hospitalization generate an apparently excessive amount of
anxiety may be helped by learning specific stress management techniques (e.g., hypnosis, deep relaxation,
meditation) that may also be helpful for their children.
Numerous studies have confirmed that parents can be
taught to help their children manage painful procedures
by using these techniques (Powers et al, 2005). It is important to provide parents with opportunities to get information about their children, to be able to express their
concerns and fears to the clinicians working with their
children, and, in some cases, to share their emotional reactions and concerns in a caring and safe support group
environment. Support groups in the context of childrens
hospital wards might include such topics as dealing with
terminal illness, guilt, financial concerns, working with
siblings, and strategies for coping with the subsequent
physical and emotional needs of the index child and the
rest of the family. Many childrens hospitals have created libraries geared to providing information about
childhood illness and chronic health issues for children,
adolescents, and parents.
332
families for hospitalization, communicating with providers in the hospital, and helping families interpret medical
information and communicate with hospital personnel.
Children and families can sometimes grow through
an illness or a hospitalization (Parmelee, 1993; Solnit,
1960) as outlined in Table 33-3. Illness and hospitalization provide opportunities for parents and siblings to
care for and nurture the child. The experience provides
opportunities for children to increase their understanding of their illness and its care, to increase participation
in their own care, and to communicate with health care
providers, their parents, and other children about the illness. Hospitalization may be a time when both parents
and children can expand their social network, meeting
children and families with medical concerns similar to
their own. It also provides an opportunity for parents
to learn more about their childs illness, gaining both information and skills; to increase their ability to observe
their child; and to increase their sense of competence in
their ability to care for the child.
Childrens involvement in decision making about
their medical care has been shown to enhance self-esteem
and overall well-being. Children who are prepared for
surgery and are supported through their hospitalization
recover more quickly and have few emotional problems
related to the surgery. Presurgery programs should inform the child of the nature of the medical intervention,
preview the hospital experience, and allow time for the
child to process the information in a safe environment
(home). Children of different ages will have different
needs in terms of information and different ways in
which they express their fears and concerns. Many pediatric hospitals and clinics have developed preadmission
preparation programs, and they are available to parents
through the Internet and in the form of written materials. More general age-appropriate materials can also be
helpful in normalizing the experience of medical care
and allowing children time to practice and accept the
future intervention.
It is important that hospital staff be prepared to
support parents in their demanding role as childrens
primary caretakers, both during the hospital stay and
afterward. They should encourage participation in resource groups for parents and for older children and
should refer parents to the increasing body of literature
written for parents and children about surgery, hospitalization, and medical procedures. Decreasing maternal
anxiety and facilitating maternal involvement in care can
decrease negative behavioral responses of children after
hospitalization (Melnyk, 2000). One-to-one parent and
family-to-family supports are unique in increasing parents feeling of competence and improving coping and
problem solving skills. Siblings should be given ageappropriate information about their brothers or sisters
illness (Kleiber et al, 1995) and encouraged to visit and
stay in touch with the hospitalized child. The hospital
should recognize the importance of family visitation, including siblings, and liberal visitation policies should be
established.
Hospitalization also provides special opportunities
for health care professionals. The extended period in
the hospital allows them to develop or to strengthen
MINIMIZING STRESSES
Currently accepted cognitive-behavioral techniques for
reducing anxiety before and during medical procedures
include such techniques as relaxation through the use
of breathing exercises, hypnosis, and distraction with
visual imagery or external stimuli such as videos and
television. Parents play a broad role in the development
of childrens coping skills, and they are integral to a
childs ability to use learned coping techniques. Parents
should take advantage of myriad print and Web site materials that are now available concerning medical care.
These materials can provide information, normalize the
experience for children, and help children develop coping strategies with the help of their parents. For parents,
these materials provide a new level of understanding and
empathy for their children. In addition, clinical personnel should be aware of and trained in these techniques
so that they may coach children and parents when necessary. Many pediatric hospitals have been proactive in
encouraging parents to take part in preparing their children for medical procedures and for coping with pain
during and after procedures. For children who routinely
undergo invasive medical procedures, ongoing training
(e.g., in yoga or relaxation and meditation techniques)
can be beneficial.
Current recommendations from the American Dental
Society stress the importance of predicting the childs
reaction by taking into account developmental level, attitudes toward dental care, and temperament. There is
an emphasis on communication with the child and individualized techniques. Communication with parents as
333
During Hospitalization
Rooming-in for parents
Encourage visiting for siblings, peers, extended family
Child Life program (recreation and therapeutic play)
Limited number of nurses and other caregivers
Childs choice of clothes, food, activities
Maximal mobility
Pain control
Procedures
Limited number
Preparation of child
Childs choice of when, where, and with whom
Limited waiting time
Parents accompany and support child
Hospital Structure
Rooming-in facilities
Play space
Waiting space near operating and recovery rooms
Comfortable accommodations for parents
Cheerful, child-oriented decor
Single- and double-bed rooms
334
Figure 33-2. Health care professionals can control the nature of the
hospital environment to minimize frightening experiences such as this.
(Ghezzi, Pierleone: Doctor Holding an Enema Syringe Caricature.
Philadelphia Museum of Art: Purchased with funds from the SmithKline Beecham [formerly Beckman] Corporation for the Ars Medica
Collection.)
SUMMARY
A childs developmental-behavioral status can both influence and be influenced by medical care experiences,
including medical procedures, dental care, surgery, and
hospitalizations. Physicians should be aware of the
stresses involved in these experiences and the effects they
may have on children. Many opportunities for minimizing the stresses on children and their families can make
the experiences as positive as possible. Health care clinicians should also be cognizant of the personal impact
that these experiences may have on them. Health care
professionals helping parents and children to cope with
these intrusions should refer to the extensive materials
available through many childrens hospital Web sites,
the Institute for Family-Centered Care, and many others
available commercially.
REFERENCES
Calda J, Pais-Ribeiro J, Carneiro S: General anesthesia, surgery and
hospitalization in children and their effects upon cognitive, academic, emotional and sociobehavioral developmenta review.
Paediatr Anaesth 14:910-915, 2004.
Davenport H, Werry J: The effect of general anesthesia, surgery, and
hospitalization upon the behavior of children. Am J Orthopsychiatry 40:806-824, 1970.
Douglas J: Early hospital admissions and later disturbances of behavior and learning. Dev Med Child Neurol 17:456-480, 1975.
Gabriel HP, Danilowicz D: Post-operative responses in prepared
children after cardiac surgery. Br Heart J 40:1046-1051, 1978.
335
336
34
Vignette
The mother of a newborn infant asks if the babys glucose test could be repeated before hospital
discharge just to be sure hes okay. The pediatrician starts to reassure her that repeating the test is
not necessary because the glucose concentration was found to be normal shortly after birth and is
no longer a concern now that the baby is older. The mother, however, appears quite anxious about
her healthy newborn, so the pediatrician decides on a different approach and instead asks her about
her pregnancy and whether she had had any problems. She relates a story that includes a threatened
abortion and prolonged bed rest, and when asked whether there was ever a time that she thought
he might not make it, she becomes tearful and talks about an earlier miscarriage. This conversation
allows the pediatrician to acknowledge her fears, to express empathy, and to talk about the fact that
when someone has been as fearful about her child as she has, such fears can persist, despite her
babys being so healthy. He comments that it will be important for them to continue to discuss this
as her child grows, leaving this as an opening so that at future clinic visits he can relate again to this
conversation and address the fears and parental behaviors that can result in the vulnerable child
syndrome.
Green and Solnit (1964) first coined the phrase the vulnerable child syndrome in a paper describing children
with severe behavioral and learning problems, all of whom
had a history of experiencing a serious illness or accident
early in life. Although these children had recovered fully
from the early life-threatening events, their parents continued to view them as abnormally susceptible to illness
or death. These continuing parental fears, and the resulting abnormal interactions between the parents and their
children, were considered responsible for the childrens
abnormal psychological development. Although this concept had been described previously in the literature, this
landmark paper with its use of the term vulnerable child
brought focus to a psychodynamic process in which the
major etiologic factor is the parents perceptions of vulnerability rather than other factors that might make the
child truly vulnerable for adverse outcomes.
Presently, the term vulnerable child syndrome is
reserved for children who demonstrate all aspects of the
syndrome as described by Green and Solnit (Table 34-1).
The term vulnerable child is commonly used to refer to
instances in which parents perceive their children to be
abnormally susceptible to illness or death, although the
children do not necessarily exhibit the consequences of
the parents abnormal perceptions.
There is a spectrum of vulnerability, with the vulnerable child syndrome representing the extreme end of
the spectrum. Both the etiology of vulnerability and the
resulting sequelae may be varied; less severe experiences
than a near-death experience, such as problems with
PREVELANCE OF VULNERABILITY
The true prevalence of perceived vulnerability is difficult
to ascertain because it is dependent on the way in which
vulnerability is defined. In a community-based study of
1095 children aged 4 to 8 years who were being seen
by health care providers, 10% of parents viewed their
children as vulnerable with use of the Child Vulnerability Scale (Forsyth et al, 1996). Twenty-one percent of all
mothers reported that they had prior fears that their child
might die. However, with use of the definitions employed
in the study, only 1.8% of children had all three features
of the vulnerable child syndrome: (1) prior fears that
the child might die, (2) continuing perceptions of vulnerability, and (3) behavior problems (as defined by the
Child Behavior Checklist). In another study conducted
in medical clinics, 27% of children were described by
their parents as vulnerable (i.e., uniquely threatened by
an episode of illness), although for 40% of these, there
was no medical basis for concern (Levy, 1980).
337
338
ETIOLOGY OF VULNERABILITY
A number of different types of events and illnesses have
been described in the literature as contributing to incre
ased parental perceptions of vulnerability (Table 34-2).
Examples include complications of pregnancy (Burger
et al, 1993), premature birth (Perrin, 1989), neonatal
jaundice (Kemper et al, 1989), hospitalization for infectious illnesses, and problems of feeding and crying
behavior in early infancy (Forsyth and Canny, 1991).
Some of these are truly life-threatening events, whereas
others are minor problems that are medically insignificant; it is the parents understanding and beliefs about
the problem that are most important in contributing to
perceptions of vulnerability, rather than the reality of
the diagnosis as understood by the physician (Carey,
1969). A particular example of this has been referred to
in the literature as nondisease to describe such entities as
innocent cardiac murmurs (Bergman and Stamm, 1967)
and sickle cell trait (Hampton et al, 1974), which to the
physician are of little consequence but which parents
may view with concern and, as a result, treat their child
differently.
In general, the earlier in a childs life that an event
occurs, the more likely it is to contribute to the parents
perceptions that the child is vulnerable. In some instances, the event that initiates the parents fears for a
child may not be related to a condition of the child but
may have occurred before the childs birth, for example,
an earlier miscarriage or the experience of the death of
a previous child. Also, a crisis that occurred around the
time of a mothers pregnancy, such as an illness or death
of a close relative, might contribute to irrational fears
of death. The newborn period is a time when parents
are likely to be particularly anxious about their childs
well-being, and medical care that is insensitive to their
understanding and concerns might contribute to longstanding perceptions of vulnerability.
In a review of published research related to the vulnerable child syndrome, Thomasgard and Metz (1995) identified a number of other parental factors that have been
associated with vulnerability; for example, perceptions
of vulnerability are more prevalent among women who
are unmarried, are younger, are less educated, and have
lower family incomes. Psychological factors that can
contribute to a parents tendency to view a child as vulnerable include a lack of support and a lack of emotional
warmth in relationships; maternal depression, particularly in the postpartum period; and a lack of sense of
competence in being a parent and feeling less in control
of ones life (Estroff et al, 1994). In a follow-up study of
Pregnancy Related
Pregnancy complications (e.g., vaginal bleeding)
Abnormal screening results (e.g., abnormal -fetoprotein)
Delivery complications
Newborn Period
Prematurity
Neonatal illness or complications
Congenital abnormalities
Hyperbilirubinemia
False-positive results of screening (e.g., phenylketonuria)
Early Childhood
Excessive crying, colic, spitting up
Any serious illness
Admission to hospital for such things as to rule out sepsis
Self-limited infectious illnesses (e.g., croup, gastroenteritis)
From Forsyth BWC: Vulnerable children. In Parker SJ, Zuckerman BS,
Augustyn MC (eds): Developmental and Behavioral Pediatrics, 2nd ed.
Philadelphia, Lippincott Williams & Wilkins, 2005.
CLINICAL PRESENTATION OF
THE VULNERABLE CHILD
The vulnerable child may present with a number of
different types of problems divided by Green and Solnit
(1964) into the following major categories.
Symptoms of Infantilization
In some cases, the parents are unable to set appropriate
disciplinary limits for the child and are overindulgent and
excessively protective of the child. The child may become
disobedient and argumentative and may refuse to eat.
339
School Underachievement
Even though school underachievement was initially described by Green and Solnit, it is usually not the major
presenting problem in the vulnerable child syndrome.
The childs school performance may suffer because of
distractible, hyperactive behavior in the classroom. The
parents earlier reluctance to separate from the child and
the unspoken fear that the child is unsafe out of the parents presence may be transferred to the child, and the
resulting preoccupation and anxiety can interfere with
the childs abilities to concentrate and to learn.
Figure 34-1. Picture of mother and child. It is the parents understanding and beliefs about the problem that are most important in
contributing to perceptions of vulnerability, rather than the reality of
the diagnosis. ( 1998 Estate of Alice Neel.)
the childs present problems. Whenever the parent reports a prior problem or concern, no matter how minor
it was, the details of what the physician said at that time
and what the parents understood and feared might be
helpful in making the diagnosis. Empathic comments
such as That must have been very frightening to you
and questions such as Did you at any time fear that he
might not make it? often allow the parents to express
their real concerns. If, on the other hand, the event was
truly of little concern to the parents, they usually say so.
Attention should also be paid to issues of separation,
both early in the childs life and when the child starts
daycare or school. Questions should be asked about the
parents level of worry when they are separated from
their child and how comfortable they are leaving the
child with a babysitter.
Although it is unlikely to be useful in a clinical setting, the Child Vulnerability Scale was developed to
be used in research to measure parents perceptions of
their childrens vulnerability (Forsyth et al, 1996). Both
the clinical history and the Vulnerable Child Scale have
been helpful in identifying factors that contribute to vulnerability.
MANAGEMENT
Suggestions for the prevention and management of the
vulnerable child syndrome are summarized in Table 34-3.
Prevention
Unfortunately, one of the consequences of present-day
advances in technology and the increase in screening for
hereditary and congenital disorders is that there is also
340
Management
After a thorough evaluation, provide a clear statement of the
childs physical health.
Help the parents understand the link between the present problem
and their past anxieties about their childs health.
Support and advise parents about interacting with their child in
an appropriate manner.
Make a referral for a psychiatric evaluation and treatment if
necessary.
Approach to Management
Whenever it is recognized that parental perceptions of
vulnerability are affecting or may affect a childs behavior or development, an approach that might be helpful
includes the following.
1. The clinician should take an in-depth history and
perform a conspicuously meticulous physical examination before giving the parents a clear statement
that the child is physically healthy. There should be
no equivocal comments, such as He doesnt look
too bad. Conducting laboratory tests just to prove
to the parents that there is nothing physically wrong
can have the opposite effect of suggesting to them
that the clinician is continuing to look for something
wrong but has not yet found it.
2. The clinician needs to help the parents understand
and accept the notion that the child is considered
special by the family and that this derives from their
response to earlier events. It is helpful to explain this
process as a recognized entity and not something
that is particularly unique to themthat parents
who experience the level of anxiety that they have
continue to be fearful for their child and that this has
an effect on the way they interact with their child,
sometimes with a deleterious effect on the child.
3. The parents need to be supported in dealing with the
child in a more appropriate manner. Advice should
be given on setting consistent limits and discontinuing
infantilizing behaviors. Issues of overprotection and
problems of separation may need to be examined, and
parents may need to be advised on how to respond
RESILIENCY
Even though the focus of this chapter is primarily on
the adverse psychological effects of early health crises,
the concept of resiliency in children is in some respects the other side of the coin from vulnerability and
also needs to be considered. The vulnerable child syndrome does not develop in all children who experience
a serious life-threatening event, and after an acute, selflimited event most parents continue to have relatively
normal perceptions of their children. As noted previously in describing a large community-based study,
only 1.8% of children were defined as having the vulnerable child syndrome, although 21% of the mothers
had reported that they at some time had feared that
their child might die (Forsyth et al, 1996). The term
resiliency is most often used to describe the protective
process that results in more positive outcomes for individuals who are at risk because of either adverse social
factors (e.g., poverty) or psychological factors (e.g.,
maternal depression). There is also a body of literature
that describes resiliency among children with chronic
illnesses or conditions, children who thrive and do well
psychologically despite their handicaps.
Resiliency is not just the result of one or even multiple
factors but a process with many contributing factors. For
any individual, the sense of resiliency may change over
time and may be influenced by developmental changes
(Rutter, 1993). Both preceding and succeeding circumstances may be important. There may, at times, be a
turning point in a persons life when the individual becomes more resilient and less vulnerable, with a resulting change in that persons path in life. From the Kauai
Longitudinal Study in which 698 infants were studied
into adulthood, Werner (1989) and colleagues identified
341
SUMMARY
There has been a substantial increase in our understanding of the vulnerable child syndrome in the decades that
have passed since it was first described. The results of research have illustrated how different types of problems
in early infancy, some of which appear quite minor and
of little consequence, can affect parents perceptions of
their childrens vulnerability for years after an event. Almost certainly, the earlier an event happens in a childs
life, the more likely it is to affect the parents developing
view of their child; thus, it is most important that clinicians recognize and address early on incidents that could
potentially have long-lasting consequences. Similarly,
when a child presents with symptoms such as behavior problems or repeated complaints of minor medical
problems, the possibility of the vulnerable child syndrome should be considered and explored. A clinicians
role in helping parents develop a more realistic view of
their child can potentially have an important effect on
promoting a childs healthy development.
REFERENCES
Allen EC, Manuel JC, Legault C, et al: Perception of child vulnerability among mothers of former premature infants. Pediatrics
113:267-273, 2004.
Bergman AB, Stamm SJ: The morbidity of cardiac non-disease in
school-children. N Engl J Med 276:1008-1013, 1967.
Burger J, Horwitz SM, Forsyth BWC, et al: Psychological sequelae of medical complications during pregnancy. Pediatrics 91:566-571, 1993.
Carey WB: Psychologic sequelae of early infancy health crises. Clin
Pediatr 8:459-463, 1969.
342
Estroff DB, Yando R, Burke K, Synder D: Perceptions of preschoolers vulnerability by mothers who had delivered preterm. J Pediatr
Psychol 19:709-721, 1994.
Filly RA: Obstetric sonography: The best way to terrify a pregnant
woman. J Ultrasound Med 19:1-5, 2000.
Forsyth BWC, Canny PF: Perceptions of vulnerability 3 years after
problems of feeding and crying behavior in early infancy. Pediatrics 88:757-763, 1991.
Forsyth BWC, Horwitz SM, Leventhal JM, Burger J: The Child Vulnerability Scale: An instrument to measure parental perceptions of
child vulnerability. J Pediatr Psychol 21:89-101, 1996.
Getz L, Kirkengen AL: Ultrasound screening in pregnancy: Advancing
technology, soft markers for fetal chromosomal aberrations, and
unacknowledged ethical dilemmas. Soc Sci Med 56:2045-2057,
2003.
Green M, Solnit AJ: Reactions to the threatened loss of a child:
A vulnerable child syndrome. Pediatrics 34:58-66, 1964.
Hampton ML, Anderson J, Lavizzo BS, Bergman AB: Sickle cell nondisease: A potentially serious public health problem. Am J Dis
Child 128:58-61, 1974.
Kemper K, Forsyth B, McCarthy P: Jaundice, terminating breastfeeding and the vulnerable child. Pediatrics 84:773-778, 1989.
35
CHRONIC HEALTH
CONDITIONS
Ute Thyen and James M. Perrin
Vignette
Sandra Suarez is an 8-year-old girl with type 1 insulin-dependent diabetes mellitus. Diagnosed at
4 years of age after an episode of bed-wetting and polyuria, she currently receives multiple insulin
injections each day and tests her blood sugar three times a day. Her after-school activities include
soccer three afternoons a week, with the other days at a more sedentary after-school program.
Although shes proficient at self-injection, as is her mother, her father still has difficulties with needles.
Both parents have faced limitations in their jobsSandras mother has turned down promotions
because they would have required moving, and her father now works part-time to be available if
Sandra has any crises related to her condition. John, Sandras 6-year-old brother, is in first grade and
has had problems with daydreaming and not staying on task. Sandras primary care physician, while
evaluating Johns needs, is working with the endocrinology group at the nearby medical center to
make sure the family knows about the diabetes and is getting some family therapy to help with
adjustment to Sandras condition and planning ahead for likely changes with adolescence (Fig. 35-1).
developmental transitions, and adjustment to the economic and psychosocial impact of a chronic condition.
Studies of the developmental and behavioral implications of chronic conditions in childhood have examined
individual conditions, but taken together, this work
documents the common consequences and service needs
of children with a diverse group of conditions, and clinical care should address these common needs.
General definitions of chronic conditions typically address two main criteria: duration of illness, usually at
least 3 to 12 months or the likelihood of permanence
(e.g., leukemia, diabetes); and severity, as indicated by
limitations in age-appropriate activities, need for long or
recurrent hospitalizations, or need for care beyond that
generally experienced by healthy children with occasional
acute, self-limiting illnesses. This definition of a chronic
condition focuses on the consequences of the conditions
more than on the specific diagnosis, and recent work has
led to measures of chronic conditions based on this notion (Bethell et al, 2002; Stein and Silver, 2002).
The use of a general definition of chronic conditions allows attention to common behavioral and developmental
characteristics of all children with these conditions, including characteristics that may influence behavior and
development: duration, age at onset, interference with
age-appropriate activities, visibility, expected survival,
course (stable versus progressive), level of certainty (episodic versus predictable), mobility, physiologic and sensory impact, impact on cognition and communication,
343
344
Body functions
and structures
(Impairment)
Environmental
factors
Activities
(Limitation)
Participation
(Restriction)
Personal
factors
Figure 35-2. The International Classification of Functioning, Disability, and Health (World Health Organization).
345
346
Child Factors
Gender
Intelligence and communication skills
Temperament
Coping skills and patterns
Family Factors
Family functioning
Parental mental health
Household structure (number of adults and children)
Socioeconomic status
Social Factors
Cultural attitudes
Access to health care
Community resources
Geography
School and daycare systems
and thus affect outcomes of chronic conditions, personal aspirations, and preparation for work and independent living. State or federal legislation such as the
Americans with Disabilities Act, ensuring access and
equal opportunities for people with disabilities, helps
overcome barriers and restrictions. However, in terms
of environmental barriers, personal and public attitudes
may be just as limiting as physical barriers.
Chronic conditions act as a chronic stressor for
the child and family. Family members may experience multiple and conflicting emotions and use a wide
range of cognitive and behavioral strategies that have
both problem-solving and emotion-regulating functions
in the process of coping. Coping describes a dynamic
process in which emotions and appraisal of the stress
continually affect and influence each other and change
the relationship between the individual and the environment. Adjustment, different from coping, describes the
outcomes of coping at a specific point in time. Most children and adolescents adhere to certain patterns of coping strategies, dependent on prior experience, learning,
beliefs, culture, and environmental influences, although
mechanisms change over time and at different stages of
development. Although coping mechanisms have had
less study in children than in adults, age, gender, and
situation appear to predict coping strategy, which is also
highly variable among children. Children and adults
make use of a wide variety of coping patterns. Although
problem-focused coping strategies have been associated with more positive emotions in response to stress,
As toddlers, children should become more independent and explore their environment vigorously. Chronic
illness may slow the development of early independence,
diminish the childs resilience, and delay the acquisition of normal developmental milestones. It may limit
the childs developing sense of competence and task
mastery. For school-age children, frequent absences
resulting from illness interfere with learning and usual
socialization. Children with visible conditions may feel
different or may be subject to teasing. Normal separation from family in early school years may become more
difficult because of needs for additional care by parents
or increased time at home rather than in school.
Adolescents must develop a new sense of identity,
work on their individual identities, develop increasingly
adult forms of sexuality, and maintain their educational
and vocational development. Many chronic illnesses
force continuing dependence on caregivers for medical
care or other in-home treatments. Attempts to develop
independence in adolescence may lead to rebellion and
denial, such as the teenager with diabetes who stops
monitoring glucose concentration or diet or who changes
insulin dosages whimsically. Sexual development may be
affected by disease directly (as with myelomeningocele)
or by fears of sexual inadequacy (as in cystic fibrosis).
Much of the health care for children and adolescents
with chronic illness emphasizes the specific condition
they have, neglecting other necessary elements of health
supervision and prevention. Teenagers with chronic conditions may require more careful preparation and counseling about sexuality than do other children. Chronic
illness may affect competitiveness in athletic activities,
although health professionals and parents just as commonly underestimate the athletic capabilities of teenagers
with chronic illness. Like children without illness, those
who are less active in athletics should find other activities
that allow them to excel and enhance their self-esteem.
Chronic illness may hamper the development of appropriate individual identity. The development of an appropriate identity emphasizes being a child or adolescent
rather than having a disease. Parents, professionals, and
adolescents themselves often generalize from the disease
to the whole person, labeling the youngster a diabetic or
a leukemic, rather than a child or teenager with diabetes. All involved should be encouraged to use people
first rather than disease first language.
347
348
use of mental health specialists, poor educational qualifications, and periods of unemployment. Those with
cardiac or respiratory disorders had the highest risks
for psychological distress and absence of educational
qualifications, those with neurologic and musculoskeletal disorders had the highest rates of social isolation,
and those with visual or auditory problems had longer
spells of unemployment. In contrast, women with a history of childhood chronic conditions had an elevated
risk only for having seen a mental health specialist (Pless
et al, 1993). Compared with apparently healthy adults,
young adults with a history of chronic physical conditions in childhood are more likely to develop nonspecific psychosomatic complaints (i.e., headaches, back
and shoulder pain, dizziness, or palpitations) unrelated
to their chronic condition or an overt somatization disorder (Kokkonen and Kokkonen, 1995). The effects of
cultural attitudes, which may stigmatize certain diseases,
and societal levels of acceptance and tolerance may affect how young people with a chronic condition perceive
their quality of life and well-being.
349
(denial, wishful thinking); grieving and anger (blaming behavior, lack of control, inappropriate criticism,
depression, helplessness, withdrawal behaviors); stabilizing period (demystification, use of cognitive control
behavior, adapting to day-to-day routine); and maturation and acceptance (emotional adjustment, feelings of
personal development and growth). The different stages
are not mutually exclusive, crises may cause setbacks,
and different family members typically go through different stages at different times.
Modern medical treatments and advanced technology such as dialysis, intravenous feeding, parenteral or
enteral alimentation, and mechanical ventilation offer
great opportunities and many choices for children and
adolescents with chronic conditions, both prolonging
life and improving quality of life. Technologic advances
have allowed the transfer of care for children assisted
by technology from hospitals to families and communities, and care at home became an accepted alternative.
Emerging parent advocacy for their children demanded
care at home, pointing to the devastating effects of
prolonged hospital admissions and parent-child separation. Families now provide care for most childhood
chronic conditions, relying on hospitals only for acute,
life-threatening complications of disease or for review
by subspecialists. Providing that care typically requires
a broad array of multidisciplinary services that vary
substantially according to the health condition and
the needs of the child and families (Figs. 35-3 to 35-5).
Families experiences with care at home, in particular
having substantial hours of nursing in the home, have
been ambivalent. Families appreciate having their child
home and receiving qualified nursing care. Yet, family
privacy, control of parenting and care issues, and independence are in jeopardy. For many families, there may
be no guarantee that the services provided at a community level or the hours allotted will be determined with
the childs or the familys needs in mind. The training
and expertise of nurses may not be sufficient to meet the
childs special health care needs (Perrin et al, 1993c).
The resilient family effectively uses resources within
and outside the family system to prevent breakdown and
to promote adaptation to a chronic condition (Rolland
and Walsh, 2006). Parents of children with chronic
illness must monitor the childs health, check equipment,
administer medications, provide physical therapy, or
carry children with mobility impairments, all tasks
beyond the normal ones of parenting. Whereas severity
appears to show little association with adjustment in
children and youth, the impact on parents does show an
increase with severity, reflecting the workload of supporting a child with a severe chronic condition (Thyen
et al, 2003). Parents often report feelings of fatigue, depression, and social isolation. The extra burdens of care
particularly affect family cohesion, along with less opportunity for social, recreational, and cultural activities
in families with a child with a chronic health condition.
Overt family dysfunction or family breakdown as a result of a childs chronic illness is uncommon, although
families may pay a high price in terms of opportunities,
social relationships, career choice, and personal growth
to cope with the burden of care. Parents of children with
350
chronic conditions in community-based studies have increased rates of mental health problems, particularly
higher rates of depression, but no significant increase in
single parenthood, social isolation, alcohol problems, or
family dysfunction. In contrast, studies of clinical populations indicate more marital discord, dysfunctional
family patterns, and overt psychiatric disturbances in
families, probably reflecting selection biases in these
populations. In families of children with chronic arthritis as an example, mothers experienced more depressed
mood than did fathers but also reported a greater sense
of mastery over time. Depressed mood was related to
greater functional disability and psychosocial problems
in their children and lack of family support. Parental
mood and strain also appear to predict child adjustment
over time.
Among two-parent families, mothers are significantly
less likely to work outside the home if they have a child
with a chronic condition. Participation in the workforce
outside the home may, however, be a protective factor
for mental and social well-being of mothers (Thyen
et al, 1999). Chronic illness in children has major
financial costs as well; the relatively small number of children with severe physical conditions consume at least a
351
Figure 35-5. Two-year-old Leon has prune-belly syndrome with severe obstructive uropathy and inability to have normal bowel movements. The picture shows him with his infusion set for total parenteral
nutrition. He depends on parenteral nutrition on a continuous basis
(20 to 24 hours/day) through a Broviac catheter, frequent intermittent
catheterization, nebulizer for intermittent obstructive airway disease,
care of his gastrostomy and colostomy, and frequent intravenous administration of antibiotics. He lived in a hospital for the first 1 years
of his life; his mother was single with multiple social problems and was
unable to take him home; he lives with foster parents and has made
excellent progress developmentally. He walks independently and talks
in two-word sentences. He receives intensive early intervention services. However, his health is still fragile, and he is frequently hospitalized
briefly because of some complications in his management.
interventions that include the social context of the individual child, especially the family. Rising consumerism,
supplementary education and information by nonmedical organizations, self-help and parent support groups,
and access to the World Wide Web have considerably
helped families access information and other families for
mutual support.
352
Decision Making
The past 30 years have seen tremendous expansion of
the role of the family in caring for children with chronic
conditions and in decision making about their childs
care. From an approach that often excluded parents
from involvement in decision making (Massie and
Massie, 1976), parents now assume major responsibilities in these areas, partly following the increased use
of home rather than hospital care and partly reflecting
major growth in consumerism in health care (Perrin
et al, 1993c). Work done by Family Voices and Brandeis
University allowed the first systematic characterization
by parent leadership of the issues faced by parents in
raising children with chronic conditions, much also
documented in the National Survey of Children with
Special Health Care Needs. That work documented
needs for several types of services (specialty medical services and mental and home health care). Providing families resources to take care of their children with chronic
conditions and involving them in key decisions have led
to increased parent satisfaction and increased adherence to mutually agreed on treatment plans. Building
on the experience of parent involvement in educational
planning through Individual Educational Plans, health
Identification of Behavioral-Developmental
Consequences
Most children with severe long-term illness are psychologically healthy and without developmental problems.
Yet the clinician must be vigilant in developmental and
behavioral assessment of children with chronic illnesses
and assess both the level at which a child is functioning and the need for referral. Primary care providers
apparently recognize adjustment problems in some of
their patients with chronic conditions. However, only
about half of children with a serious chronic condition
and a behavioral or emotional problem receive mental
health services (Weiland et al, 1992).
353
SUMMARY
Chronic illness and disabilities both affect and are affected by the development and behavior of children.
Although only a minority of children have major chronic
health conditions, the complexity of the diagnosis and
management of these children and their families calls for
extensive pediatric involvement with much interdisciplinary collaboration and coordination of care. Special
pediatric roles other than that of providing medical care
include identification of developmental-behavioral concerns, assessment of family strengths, education about
illness, and planning for education.
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36
This chapter is intended as a guide to integrating concepts of palliative and end of life care into the practices
of pediatricians, family physicians, and other health
care professionals working with children and families
confronting loss and death. The following pages summarize important treatment approaches in different sites
of care. The development of normal childrens views of
death are reviewed and linked to the care of seriously ill
children. Family-centered care and the role of the health
care team are discussed. The need for further educational services and research is briefly mentioned.
Advances in medical care have allowed children with
serious, complex, and rare conditions to live longer,
necessitating consideration of four aspects of pediatric
palliative care. The first involves care of a child with
an acute, acquired, life-threatening illness (e.g., metastasized cancer). The second aspect, also an acute condition, involves managing sudden, severely traumatic
injuries (e.g., the child involved in a car crash or manmade or natural disaster). The third and more frequent
circumstance involves the care of a child with a chronic,
life-shortening condition (e.g., cystic fibrosis or AIDS),
when numerous medical crises and an unpredictable
course create uncertainty of quality and duration of life.
Finally, a perinatal or neonatal death may occur (e.g.,
the delivery of a child with a prenatal diagnosis of a fatal condition). In such situations, a family must prepare
for both a birth and the death of their infant. Any of
these courses can form the basis for a host of psychological stressors, whether from the trauma of the news
of a serious accident or from the emotional accommodation to uncertainties among children and families facing
progressive life-limiting conditions (often described as a
Damocles syndrome) (Koocher and OMalley, 1981). In
all four aspects of care, families struggle with whether
they should anticipate the childs death and accommodate to the impending loss or suppress their anxieties
about possible or probable death while hoping for the
best. The coping styles and pace of adaptation will often vary among family members. Reactions of parents,
siblings, and loved ones represent major challenges to
health care workers and cause for preventive mental
health in pediatrics to specifically address the needs of
these children.
INCIDENCE OF DEATH
Approximately 55,000 children younger than 19 years
die every year in this country (Institute of Medicine,
2003). The majority of child deaths occur during the
first year of life (around 50%), and of those deaths,
most occur during the neonatal period. After the first
year of life, unintentional injuries or accidents constitute the most frequent cause of death, with more than
half of those occurring between the ages of 15 and
19 years. Cancer is the most frequent illness cause of all
child death, with sudden infant death syndrome (SIDS)
leading the infancy period. The majority of children
and adolescents die or are pronounced dead in institutions; of those, approximately 56% occur in inpatient
settings (intensive care units, delivery rooms, long-term
care facilities) and 16% in outpatient settings (emergency departments, disaster sites, accident sites) (Institute of Medicine, 2003; Knapp et al., 2005). In addition
to these deaths, thousands more children live for years
with debilitating conditions. Such statistics become a
concern considering the well-documented lack of professional training in as well as the availability of services
for pediatric palliative care.
DEFINITIONS
Palliative care has historically represented comfort care
provided in hospital or hospice to individuals at the end
stage of life when medical problems no longer respond to
curative measures. Whereas control of pain and prevention of suffering remain primary goals of palliative care,
such services can best be viewed as a continuum of care
from the time of diagnosis (when care will benefit the
child who survives as well as the child who dies) to the
end of life (when some curative or life-prolonging measures, such as organ transplants or blood transfusions,
may still benefit the ill child). Pediatric palliative care,
then, involves a multidisciplinary approach that seeks to
prevent or to relieve physical and emotional distress produced by life-threatening or life-limiting disorders and
that enhances the life of children and families living under these conditions. The goal focuses on achieving optimal quality and normality of life (Hutchinson et al, 2003;
355
356
facing helplessness and impotence in managing endstage disease. Caregivers also grieve.
Chapter 36 Palliative and End of Life Care for Children and Families
357
358
Separation
The infant or toddler in an unfamiliar setting with strangers as caretakers (as when hospitalized) seeks parental
reassurance and comfort and finds separation even more
anxiety producing than does the healthy child. Arranging for parents to sleep in the hospital room with their
child and to become integrally involved in the childs
care is vital at this age. At times, the parents heightened
anxiety or withdrawal resulting from anticipatory grief
can cause them to defer basic care of their child to the
nursing staff. Alternatively, when the parents cannot detach from the responsibility of caring for the child, they
may need permission to be relieved of such care. The
primary health care team should assist the parents in
openly discussing their emotional reactions to help them
address their personal and family needs and to provide
for the childs ongoing physical care and comfort.
By approximately 3 years of age, the preschooler can
increasingly understand and tolerate parental absences.
The presence of a life-threatening illness and the need
for prolonged hospitalizations, however, can lead to
regressive behavior and an increased need for parental
reassurance. The preschool-age child can perceive death
as a type of separation or parting from others. Fears
and fantasies about illness and dying can be confused
with concern about separation. The adolescent typically
is concerned about potential family withdrawal related
to anticipatory grief, censoring of medical information,
and social withdrawal of peers due to their friends
anxieties about serious illness. Acceptance by peers is
paramount to the adolescents sense of identity and selfesteem. Isolation from normal peer activities poses difficulties for many adolescents.
Parents presence and active involvement in the childs
care remain essential throughout the childhood and adolescent years. This involvement includes the option to
be present during medical procedures. Most health care
facilities are aware of the comfort this provides the child
and family and currently allow parental participation
in basic treatments and procedures, such as dressing
changes and insertion of intravenous lines. However,
controversy remains, both in clinical settings and in the
Chapter 36 Palliative and End of Life Care for Children and Families
Pain Management
Treatment of life-threatening illness requires many painful and noxious procedures and treatments. In addition
to facilitating the parents physical presence, comforting
and reassuring, the treatment team can use other strategies to deal with the anxious anticipation of adverse
procedures as well as the management of pain.
Every child needs preparation for procedures in clear,
understandable language. An explanation of the procedure, commensurate with the childs age and ability to
comprehend, helps the child anticipate what will transpire and provides an increased sense of control. Play
therapy techniques, such as providing children with a
stuffed toy animal and asking them to insert an intravenous line with use of actual equipment, offer an opportunity to address emotional concerns and to use mastery as
a coping strategy before the actual procedure. The young
child who complains of pain during a procedure can learn
distraction techniques, such as deep breathing, squeezing
a parents arm when the pain intensifies, or the use of visual imagery techniques. Allowing the child to maintain
some control can also help decrease fear and helplessness.
For example, the clinician can suggest that it is okay to
scream or cry during a procedure, as long as the child remains relatively motionless. Deep muscle relaxation and
hypnosis can also prove useful with school-age children
and adolescents, both as an aid in reducing anxiety and
as a strategy to control chronic pain (such as phantom
pain after amputation or pain from an invasive procedure). Consultation with a mental health provider, who
can help the child better understand the psychological
consequences of his or her pain and who can provide
skilled behavioral techniques, is appropriate.
Vignette
Jill, 4 years of age, had severe distress reactions in
response to venipuncture. Play therapy sessions were
introduced and included elaborate preparations for
drawing blood from her plush toy animal, Snoopy.
She was also provided a party blower noisemaker
for Snoopy to use during the procedure. After a few
consultations, Jill was able to tolerate venipuncture
herself, using a party blower, without overt signs
of distress. The intervention allowed Jill to express
herself, to gain some mastery over her feelings of
anxiety, and to learn a distraction technique.
359
Control
Vignette
A 10-year-old girl was put on life support after an
anoxic brain injury. Her parents did not leave her side
for several days. They eventually asked the nurse if
she thought they might miss something if they went
home for a brief time to attend to their other children.
The mother also expressed a fear that her daughter
might need her while she was away. The parents were
told, She is not responsive and wont know if you
are not here. You dont need to stay all the time.
These parents could have been better reassured by
such words as, We dont know how much she knows
is going on. We will be with her and remind her that
you will return soon. We will call you if we observe
anything new.
360
Vignette
Joey, aged 6 years, was dying of an aggressive,
inoperable brain tumor. With the help of Joeys
psychologist, his parents and neurologist explained to
Joey that all the medicines and radiation could not stop
the tumor from growing. He could go home, where his
parents and the visiting nurses would take care of him,
making sure he gets his medicine if any part of him
hurts. He was told that when his tumor got too big,
his body would stop working and he would die. His
parents explained that he would go to heaven to live
with God and his Auntie Helen and that someday the
whole family would be together again. Later that day,
the psychologist went back to see Joey in his hospital
room and said to Joey, We talked about some hard
things this morning. Joey retorted, I hate Auntie
Helen! The therapist, responding to both the familys
belief system and to Joeys statement and its underlying
concern, replied, Lots of boys and girls have died and
gone to heaven, so you wont have to hang out with
Auntie Helen. But I bet youre upset about dying, too.
The management of this situation respected family
beliefs and allowed Joey, his parents, and the medical
team to truthfully discuss Joeys prognosis and gave
Joey permission to communicate with others about his
end of life.
Vignette
Susan, aged 9 years, complained of feeling treated
like a baby during a hospitalization. Her physician
would compliment her pajama choices or ask about
her stuffed toy animals but did not talk with her
about discussions and decisions made about her care,
which she knew were being decided in the hallway
with residents. Susan commented to her psychologist,
I want to know if I need to have another lumbar
puncture and when I can go home. I dont care if he
likes my teddy bear!
FAMILY-CENTERED MANAGEMENT
OF PALLIATIVE CARE
Viewing family-based intervention as an absolute necessity will foster optimal adaptation and support of the patient. The costs of chronic illness to the patients family
are substantial in both emotional and financial terms. The
course of the illness will likely tax the adaptive capacities
of the parents, both as individuals and as a couple. Brothers and sisters will also likely experience an extra burden
of stress. If the patient does die, a family of grief-stricken
survivors remains. The practitioner who overlooks the
family as a part of the patient care locus will ultimately
compromise care for the ill family member.
Professionals must remain aware that the typical or
normal behavior in the family of a child with terminal
or life-threatening illness differs from the behavior of the
same family before the diagnosis. Professionals immersed
in the process of treating such families or who have
known the families for many years can easily overlook
this truism. For example, competent, articulate parents
talking retrospectively of the day they first learned of
their childs diagnosis frequently report, After the doctor told us our child had leukemia, she said some other
things. I dont remember what they were. The other
things may have dealt with treatments about to begin;
but the parents, overwhelmed by the threat of a potentially terminal illness, often feel too stunned to absorb the
information. Such predictable reactions routinely occur
under these circumstances, and the health care team can
implement measures to assist such parents. Communication between specialists and the primary care physician
Chapter 36 Palliative and End of Life Care for Children and Families
361
Emergency Department
Whereas the actual death of a child in the emergency
department is an uncommon occurrence, the emergency
department physician and health care team must prepare
to treat and to manage the life-threatening illnesses and
conditions likely to enter their doors and that cause children to die. As previously noted, injuries and accidents
constitute the number one cause of death in children;
SIDS leads the cause of death in the infancy period. Inevitably, these children arrive urgently to the emergency
department for triage and care. In addition, the child
with a life-threatening illness or condition may come to
an emergency department in a medical crisis. The mother
in premature labor or with a high-risk pregnancy may
also present to an emergency department staff.
Several characteristics distinguish the emergency department from other sites at which children may die:
1. Staff must prepare to respond to the emotional,
medical, cultural, procedural, and legal aspects of
caring for a seriously ill patient while simultaneously
362
Inpatient Settings
During an inpatient stay, a child requires more reassurance and emotional support for a longer period than
during outpatient visits. Many hospitals now provide
rooming-in opportunities and encourage parents or
other family members to participate in caring for their
child. However, in some settings or circumstances (e.g.,
intensive care units), such involvement by family members may be limited. Some hospital stays can be seen
as routine therapeutic admissions; others can generate anxiety, realistic or not, that the illness has worsened. Even children who otherwise seem to be coping
well through a prolonged illness can experience specific
problems (such as conditioned reflex vomiting), anxiety
linked to painful procedures, depressive reactions to progressive loss of physical capacities, or family inhibitions
(Koocher and OMalley, 1981). Although seemingly a
paradoxical reaction to the cessation of a noxious experience, hospitalizations and stressful treatment regimens
can become imbued with some protective value.
For children with complex medical problems that
require inpatient, home, and community-based services
from many different professionals, organizations, and
settings that may be separated geographically, institutionally, and even culturally from one another, the burden of coordination of services can be overwhelming
(Institute of Medicine, 2003). For the families of the hospitalized child with a life-threatening illness, continuity
of care is paramount to feeling confidence in and trustful of the quality of care their family member receives.
Without continuity, parents often feel they must start
from scratch with each hospital admission. Heller and
Solomon (2005) interviewed 36 bereaved parents of
children with life-threatening conditions who died after
receiving care at three geographically dispersed teaching
hospitals. Three types of continuities emerged as key in
ensuring that the parents felt confident their child would
receive the best possible care:
1. informational continuityinformation on prior events
is available to all care providers and used to give care
appropriate to their childs current circumstances;
2. relational continuitythe importance of providers
knowing the patient as a person, allowing predictability and coherence in care; and
3. management continuitytypes of care from different
providers complement one another in a coherent way,
that is, a shared management plan. In the absence of
continuous, caring relationships with staff, parents
reported frustration, hypervigilance and mistrust
about the quality of care their child received.
Chapter 36 Palliative and End of Life Care for Children and Families
363
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There is a significant lack of formal education in pediatric palliative care in medical schools and residency
programs (Bagatell et al, 2002; Browning and Solomon,
2005; Contro et al, 2004; Institute of Medicine, 2003;
Knapp et al, 2005). Among those training programs
that do offer formal education in death and dying, a
significant lack of standards exists. Consequently, many
physicians delivering pediatric care report feeling unprepared to deal with end of life and bereavement care for
children, with much of their experience occurring on a
trial and error basis (Bagatell et al, 2002; Institute of
Medicine, 2003). In addition, the health care system in
the United States has failed to meet the needs of children
requiring end of life and bereavement care (Browning
and Solomon, 2005; Institute of Medicine, 2003), notably owing to lack of funding and reimbursement of
time and services from insurance companies. Whereas
integration of formal training of pediatric palliative care
into the curriculum of medical schools or offering specific fellowship programs for pediatric care specialists
may seem a Herculean task, we must begin to more effectively relieve the physical and emotional pain of these
children and families. Bagatell and colleagues (2002),
for example, designed and implemented a low-cost, sixsession seminar for pediatric residents at the University
of Arizona. This program included sessions involving
symptom management and discussion of end of life care
with families and issues arising at the time of death. Preand post-testing of the residents suggested an increase in
skill acquisition and comfort level in managing children
dealing with end of life issues. Health care providers and
family members are increasingly seeking information on
informative Web sites (Table 36-1).
Research needs in pediatric palliative care include
protocols and procedures for implementation in the
hospital as well as curriculum designs in medical schools
to prepare physicians to provide expert care on a pediatric palliative care team. Such programs must remain
sensitive to developmental differences in children, cultural and religious differences, ethical and legal issues,
and management of symptoms at different stages of illness. Clinical research is necessary to learn more about
the experiences of children and families to identify risk
factors, to facilitate communication, to improve quality
of life, and to coordinate care. Such research is problematic, for many reasons, however. Prospective studies, observing the child at diagnosis and continuing with
the family into bereavement, are desperately needed to
determine appropriate timing and approaches to care.
Chapter 36 Palliative and End of Life Care for Children and Families
Information
www.aahpm.org
American Academy of Hospice
and Palliative Medicine
www.eperc.mcw.edu
End of Life/Palliative Education
Resource Center (EPERC)
Educational materials
Conferences
Self-study program
Resources
www.ippcweb.org
Initiative for Pediatric
Palliative Care
Research
Assessment
Curriculum modules
Educational development
www.chionline.org
Childrens Hospice
International
www.depts.washington.edu/
healthtr
Adolescent Health Transition
Project
The length of such research and the ethical and practical issues of working with an ill child are of concern.
Retrospective studies raise significant risks of retraumatization of families as well as validity and reliability issues in assessing children and families whose level of
functioning varies over the course of the illness and who
are actively grieving.
SUMMARY
Many professionals are fearful of working with children
who will die and with their families. Most often, these
practitioners cite their own helplessness or sense of inadequacy in the face of death as a basis for their apprehension. The ill children and their families also have fears
but desperately need and want skilled support of professionals who can provide encouragement and advice
about how to cope with their stress and uncertainty. Clinicians who participate in the final days of a childs life
will forever be indelibly etched into the familys memories of that event and incorporated into the meaning of
the childs death for the family. The impact pediatric
providers can have on offering positive experiences for
365
REFERENCES
American Academy of Pediatrics, Committee on Psychosocial Aspects
of Child and Family Health: The pediatrician and childhood bereavement. Pediatrics 105(2):445-447, 2000.
Bagatell R, Meyer R, Herron S, et al: When children die: A seminar for
pediatric residents. Pediatrics 110(2):348-353, 2002.
Browning DM, Solomon MZ: The initiative for pediatric palliative
care: An interdisciplinary educational approach for healthcare
professionals. J Pediatr Nurs 20(5):326-334, 2005.
Contro NA, Larson J, Scofield S, et al: Hospital staff and family perspectives regarding quality of pediatric palliative care. Pediatrics
114(5):1248-1252, 2004.
Groopman J: Being there. The New Yorker, April 3, 2006:34-39.
Gudas L: Concepts of death and loss in childhood and adolescence: A
developmental perspective. In Saylor CE (ed): Children and Disasters. New York, Plenum Press, 1993, p 67-84.
Gudas LS, Koocher GP: Grief and bereavement. In Behrman RE,
Kliegman, RM, Jenson HB (eds): Nelson Textbook of Pediatrics,
17th ed. Philadelphia, WB Saunders, 2004, pp 117-120.
Heller KS, Solomon MZ: Continuity of care and caring: What matters
to parents of children with life-threatening conditions. J Pediatr
Nurs 20(5):335-346, 2005.
Himelstein BP, Hilden JM, Boldt AM, Weissman D: Pediatric palliative care. N Engl J Med 350(17):1752-1762, 2004.
Hutchinson F, King N, Hain RD: Terminal care in paediatrics: Where
we are now. Postgrad Med J 79:566-568, 2003.
Institute of Medicine; Field MJ, Behrman RE (eds): When Children
Die: Improving Palliative and End-of-life Care for Children and
their Families. Washington, DC, National Academies Press, 2003.
Knapp J, Mulligan-Smith D; Committee on Pediatric Emergency Medicine: Death of a child in the emergency department. Pediatrics
115(5):1432-1437, 2005.
Koocher GP: Childhood, death and cognitive development. Dev Psychol 9(3):369-375, 1973.
Koocher GP: Development of the death concept in children. In Bibace R,
Walsh ME (eds): The Development of Concepts Related to Health:
Future Directions in Developmental Psychology. San Francisco,
Jossey-Bass, 1981, pp 85-99.
Koocher GP, OMalley JE: The Damocles Syndrome: Psychosocial Consequences of Surviving Cancer. New York, McGraw-Hill, 1981.
Milstein J: A paradigm of integrative care: Healing with curing throughout life, being with and doing to. J Perinatol 25:563-568,
2005.
Rando T: Treatment of Complicated Mourning. Champaign, IL, Research Press, 1993.
Ztalin DM: Life themes: A method to understanding terminal illness.
Omega 31:185, 1995.
37
Bereaved parents live two lives simultaneously, one with their child and one without their child.
They live both lives every day.
William Lord Coleman
Bereaved parents, at some point, must integrate the death of their child into their lives and
continue to live. There is never closure.
Julius Benjamin Richmond
Vignette
A pediatrician read of the death (drowning in a lake) of a 5-year-old boy (Joel) in his practice. He felt
uncomfortable and confused whether he should contact the family. He decided to wait until Joels
sisters next office visit (in 1 month) and then say something.
Joels mother and 10-year-old sister Kathy sat silently in the examination room. Kathy had her arm
around her mother. Their eyes seemed to search his face: Does he know? Will he say something? He
greeted them, then sat silently, uncertain what to do or say, as if waiting for them to mention Joels
death first.
After a short silence, he said softly, Im very sorry about Joels passing. They mumbled Thank
you. Tears filled their eyes. After a respectful pause, he asked, How are you getting by? The mother
had taken an indefinite leave of absence from work. The father was working longer hours to keep
busy and distracted. Kathy had many excused absences from school, her grades were dropping, and
she had quit the soccer team. After the memorial service and interment of Joels ashes, the family had
received only occasional calls and letters. Everyone seems to have disappeared . . . as if everything
was normal again, like Joel had never died.
The pediatrician was deeply moved and was worried about the impact on Kathy and that she
might be assuming the role of caretaker. Painfully aware this was not a routine well-child visit, he
told them he would reschedule it. He wanted to help, but at this moment he did not know what
to do. In parting, he determined to find support for the family and to address Kathys situation. He
scheduled a family visit (mother, father, Kathy) at 5:00 pm for the following week.
The death of a child* is the most devastating and lifedefining event parents can ever experience. It defies the
natural order: parents should not bury their children.
The child will never be again, and the death leaves an
emptiness never filled. The loss destroys the parents
Both authors lost their sons, Dale K. Richmond (1950-1971) and Justin
L. Coleman (1976-2003). This chapter is dedicated to them and to all
lost children everywhere.
366
Chapter 37 After the Death of a Child: Helping Bereaved Parents and Brothers and Sisters
367
Parents
Developmental status
Individual temperament
How parents grieve
Surviving siblingchild
relationships
Surviving siblings relationships
Responses at school (teachers,
peers)
Table 37-2. Normal Grief Reactions (A Selective List): What Pediatricians Should Monitor and Care For
Physical
Emotional-Psychological
Behavioral-Social
Lethargy
Sleep disturbances
Tightness in the chest
Other somatic complaints
Weight gain or loss
Restlessness, sighing
Screaming
Calling out to lost child
Avoiding activities outside of home
Withdrawal from friends and acquaintances
Avoiding or treasuring reminders of child
(his or her room, clothing, photos, music)
Disorganization, indecision
Memory and concentration loss
Marriage strained, broken, strengthened
368
a cknowledge and validate. Pediatricians should be vigilant and thorough in detecting these symptoms, explaining
them as normal reactions, monitoring them, and treating
or referring as necessary (Zisook and Zisook, 2005). They
must be especially sensitive to when parent and sibling grief
becomes depression (Heneghan et al, 2004); Park et al,
2007). Some parents may even feel suicidal, wanting to
join the dead child (Li et al, 2005). Delayed grief reactions occur sometime after the death, such as close to the
death anniversary or birthday (anniversary reactions).
Relationships among parents and siblings can be
strained. Marriages can be strained also. Family relationships and marriages can also be strengthened.
The death and family grief may recall a personal event
and stir strong emotions in the pediatrician. A bit of
pediatrician self-disclosure can be supportive, but not too
much (McDaniel et al, 2007; Redinbaugh et al, 2003).
Chapter 37 After the Death of a Child: Helping Bereaved Parents and Brothers and Sisters
369
the family) seek out resources only when they are ready.
Some never reach out, preferring to heal individually or
within their family. Whatever their choice, when families return for subsequent office visits, pediatricians must
always remember the dead child by name.
Most pediatricians, including some developmentalbehavioral subspecialists, do not have the expertise or
time for extended grief counseling. They may see the
family for one or two visits or maybe none; but, for all
families, they should suggest and encourage referrals and
resources (Table 37- 5). Families (even individuals within
Resources
www.compassionatefriends.
org
National office (toll free)
877-969-0010
www.allstate.com\teen
1-800-273-TALK
www.suicidepreventionlifeline.
org
www.griefwatch.com
www.webhealing.com (links
to hundreds of online
resources)
www.connectforkids.org
www.organdonor.gov
www.madd.org
www.kidsandguns.org
370
Chapter 37 After the Death of a Child: Helping Bereaved Parents and Brothers and Sisters
SUMMARY
Approximately 60,000 children aged 0 to 19 years die
each year in America. Pediatric residents and hospitalbased subspecialists are invariably at the bedside when
the child dies. However, the majority of pediatricians
(primary care, developmental-behavioral, and other
371
REFERENCES
American Academy of Pediatrics, Task Force on the Family: Family
pediatrics. Pediatrics 111:1541-1571, 2003.
Bagatell R, Meyer R, Heron S, et al: When children die: A seminar
series for pediatric residents. Pediatrics 110:348-353, 2002.
Baider L, Wein S: Reality and fugues in physicians facing death: Confrontation, coping, and adaptation at the bedside. Crit Rev Oncol
Hematol 40:97-103, 2001.
Carey WB, McDevitt SC: Coping with Childrens Temperament:
AGuide for Professionals. New York, Basic Books, 1995.
Coleman WL: Family-Focused Behavioral Pediatrics. Philadelphia,
Lippincott Williams & Wilkins, 2001, pp. 240-243.
DeVita-Raeburn E: The Empty Room: Surviving the Loss of a Brother
or Sister at Any Age. New York, Scribner, 2004.
Fallowfield L, Jenkins V: Communicating sad, bad, and difficult news
in medicine. Lancet 363:312-319, 2004.
Finkbeiner A: After the Death of a Child: Living with Loss through the
Years. Baltimore, Johns Hopkins University Press, 1996.
Heneghan AM, Mercer M, DeLeone NL: Will mothers discuss parenting stress and depressive symptoms with their childs pediatrician?
Pediatrics 113:460-467, 2004.
Kahn RS, Wise PH, Finkelstein JA, et al: The scope of unmet maternal
health needs in pediatric settings. Pediatrics 103:576-581, 1999.
Knapp J, Mulligan D: Death of a child in the E.D. Pediatrics
115(5):1432-1437, 2005.
Koenig H, McCullough M, Larson D: Handbook of Religion and
Health. New York, Oxford Press, 2001.
Kubler-Ross E: On Death and Dying: What the Dying Have to Teach
Doctors, Nurses, Clergy, and Their Own Families. New York,
Touchstone, 1969.
Lewis M, Schonfeld D: Dying and death in childhood and adolescence.
In Lewis M (eds): Child and Adolescent Psychiatry, 3rd ed.
Philadelphia, Lippincott Williams & Wilkins, 2002, pp. 12391245.
Li J, Laursen TM, Precht DH, et al: Hospitalization for mental illness
among parents after the death of a child. N Engl J Med 352:11901196, 2005.
Maciejewski PK, Zhang B, Block SD, Prigerson HG: An empirical examination of the stage theory of grief. JAMA 297:716-723, 2007.
McDaniel S, Beckman H, Morse D, et al: Physician self-disclosure in
primary care visits: Enough about you, what about me? Arch Intern Med 167:1321-1326, 2007.
Park ER, Storfer-Isser A, Kelleher KJ, et al: In the moment: Attitudinal
measure of pediatrician management of maternal depression. Ambul Pediatr 7:239-246, 2007.
Rando T (ed): Parental Loss of a Child. Champaign, IL, Research
Press, 1986.
372
Part V
SECTION A
OUTCOMESBEHAVIORAL
AND EMOTIONAL
Social Relationships
Vignette
Miya, a 6-year-old girl, was referred by her parents because she is having problems in school. Her
teacher has said that she finds her difficult to manage in the classroom because she is frequently
out of her seat, disturbing her classmates, and is often argumentative when asked to resume work.
The teacher also notes that Miya has difficulty making and maintaining friendships and increasingly
asks to be allowed to help in the classroom rather than going to recess with her classmates. She
reports that Miya seems anxious when she is in unstructured situations but does better in structured
activities. Her parents are also concerned about problems with peers. She rarely gets invited to
birthday parties, and few classmates came to her last birthday party although her parents made sure
that the entire class was invited. The parents report that she plays much better with her 3-year-old
neighbor and 12-year-old cousin than with children her own age. They have few behavior problems
at home, where she is an only child. When tested by the school psychologist, Miyas cognitive ability,
both verbally and nonverbally, was at a high level (IQ 135), as were her achievement skills in reading,
writing, and written language.
374
DEVELOPMENTAL COURSE
The components of social cognition emerge throughout
development. Recognition of the emergence, or lack
thereof, of these social cognitive skills during appropriate developmental stages is important for early identification of children with social cognitive deficits.
375
Infancy
Infants have been described as prewired to be social
beings (Gopnik et al, 1999). We now have research that
helps us begin to understand how this wiring may
be constructed. Rogers reviews the literature on infant
imitation of facial movements that provides evidence
for a specific neural network. Possibly the motor neuron
system, present at birth, is capable of perception-action
couplings, which appear to be a starting state for the development of self-other representations (Rogers, 2006).
This predisposition emphasizes the importance of behaviors that facilitate engaging with others, such as eye
contact and social smiling, and the feedback provided by
reciprocal synchronized parental responses, particularly
as the infants repertoire of volitional behaviors expands.
Eye contact, social smiling, reaching, and emerging joint
attention skills have all been identified as behaviors that
reflect social cognitive skills in infancy. The emergence
of the social smile at 2 to 3 months heralds what Emde
and colleagues have termed an awakening of sociability with enhanced capacity for eye-to-eye social contact and reciprocity (Emde, 1998). Midway through the
first year, infants should begin to use social referencing,
monitoring the emotional expressions of others to modulate emotion as well as behaviors, and the emergence of
joint attention skills should be observed.
Toddler/Preschool
Socialization demands increase during this phase, and
many children for whom there were no concerns in infancy related to social development may now struggle
with social difficulties. Children in the toddler/preschool
age not only learn how to communicate their thoughts
to others, but they also develop skills for expressing intention and emotions to them. A critical social cognitive
skill that also develops is the ability to infer or to predict
anothers thoughts as well as other childrens intentions
and feelings. From these abilities emerge the capacity for
empathy and response behaviors of soothing and helping (Emde, 1998). These social cognitive communication
skills emerge as children develop an understanding of
social rules in different settings and relationships. Children learn to process social information, which requires
self regulating and monitoring and the ability to modify
ones own behaviors in relation to social perception and
understanding of the expression of intention by others.
Preschoolers develop the ability to construct narratives
that reflect their social cognitive development and serve
to organize and communicate their social-emotional experiences as their language skills expand. This helps them
deal with emotionally unexpected situations or conflicts.
These narratives are also reflected in their social, imaginative play with peers. Reciprocity in play requires children to observe and to recognize feelings and beliefs of
others, which they can match with their own.
School Age
Social cognitive abilities in school-age children are largely
reflected in their ability to function in increasingly socially
ambiguous situations. Children with well-established
social cognitive skills are able to function successfully
376
Adolescence
The demand for social reciprocity among adolescents
increases and becomes even more complex. The ambiguities of social group affiliations and emerging sexual
identity of adolescents often are stressful, even for adolescents with solid social cognitive skills. In addition,
the need to establish social reciprocity and to be accepted by peers of both sexes is a major developmental
task for this age group. Adolescents are also increasingly subjected to social testing or teasing from both
sexes. Interpretation of humor, kidding around, and
being criticized playfully all require social cognitive
skills to interpret the subtle meaning based in context,
gestures, tone of voice, and timing during these complex
social engagements.
DIAGNOSTIC CONSIDERATIONS
In assessing children with social difficulties, it is critical
to consider characteristics of social cognitive skills as
well as environmental, cultural, and familial factors
that have an impact on socialization. Although it is well
understood that environmental factors play a major
role in the development of language, intellectual, and
social behaviors, we also know that abnormal brain
functions (developmental or acquired) may interfere
with the basic skills of language, cognition, and social
functioning in spite of optimal opportunities in the environment for learning. It is important to identify children
with disorders of social cognition or mental health and
other neurodevelopmental disorders, including genetic
disorders such as sex chromosome disorders, and to assess the degree to which impairments in intellectual cognition contribute to social difficulties (Tartaglia et al,
2007). Children with delays in intellectual cognitive development generally have social cognitive skills appropriate to their intellectual level. Children with acquired
brain injury also have behavioral and social difficulties
(Yeates et al, 2004).
Environmental and cultural issues contribute to
social difficulties as well and must be assessed in every child with social difficulties. Both the Diagnostic
377
High Sociability
Low Sociability
High Sociability
Low Sociability
Low Sociability
Joint attention
Stranger recognition
Easy to engage
Isolated attention
Indiscriminant response
Difficult to engage in social
interactions
Little imitation
Imitation of language
and actions
Emerging symbolic play
Adaptive to change
Uses language for social
initiation
Well-regulated activity
Imaginative role play
with peers
Low Sociability
Shares toys
Chosen for teams
and games
Has favorite friend
Peer group of friends
Talks with peers
and adults easily
Variety in play
patterns
Able to shift activities,
groups easily
Responds to others
distress
Able to joke with
peers
Uses a variety of
gestures socially
Understands personal
space
Infancy
Infants who have difficulty with emotional regulation
or do not show behaviors that reflect the development
of increasingly complex social interactions with their
378
Toddler/Preschool
Children who fail to appreciate the needs of others frequently will have social difficulties related to poorly
developed empathy. Children with poorly developed
empathy are more likely to be isolated from peers, who
experience the child as not following the implicit rules
of taking turns or sharing and may complain that he or
she is unfair. The child who will engage only when
his or her own interests are involved will have difficulty
sustaining relationships. Children who behave with less
empathy than expected for their age require thoughtful
assessment. There are important environmental, psychological, and social cognitive factors that have an impact
on developing empathy. Failure to engage in reciprocal
social interactions with peers is frequently an indicator
of poorly developed social cognitive skills. Knowledge
of a childs cultural background and expectations and
opportunities to form peer relationships is also necessary to determine the extent to which a child should be
expected to engage with peers. Whereas limited exposure or opportunity to develop social play may relate to
isolated nuclear families or limited exposure to similaraged peers, it should resolve with appropriate opportunities provided (e.g., daycare, school). Concerns that
children prefer to play with older or younger children
may also reflect social cognitive difficulties. Parents may
School Age
When children present with behaviors that suggest an
attention disorder or hyperactive behaviors, the childs
individual differences in neurocognitive skills, which mediate social-emotional functioning, must be considered.
Deficits in working memory and executive function are
often associated with social behavior problems and illus
trate the interdependence between social and intellectual cognition. Children who primarily have difficulties
with peers for social cognitive reasons rather than for
other attentional or emotional factors often show patterns of behavior such as difficulties with social ambiguities. They may function very differently in structured
(classroom, clubs) versus unstructured (recess, lunch)
social encounters.
Just as we provide treatment to support or to facilitate
learning to read or to improve language skills, children
with low social cognitive skills need explicit interventions.
Parents need support to understand the importance of
providing more structure to support the development of
social skills through direct instruction and input, particularly around ambiguous social encounters. For example,
before an unstructured social encounter (recess, lunch,
play dates), the child can be coached about expected behaviors and responses to anticipated behaviors of others.
The child can review brief lists of tips related to social
rules and rehearse through role play with parents or other
adults. Use of social stories can be very helpful for children
to internalize a variety of age-appropriate social scripts
that can provide a scaffold for their social encounters
(Gray, 1994, 2000). Many schools and therapists provide
interventions for children with social cognitive deficits,
often called social skills groups (Winner, 2000).
Adolescents
Adolescents with poor social cognitive skills are vulnerable to feelings of isolation and abandonment that can
be dramatic. At a stage in life when separation from
parents and affiliation with peers is essential, the sense
of existential angst associated with being unaccepted by
peers can compromise the regulation of mood and increase social anxiety and isolation.
Indicators of struggles with social skills in adolescence often include behaviors such as preference for
solitary activities, preoccupation with fantasy play or
fiction, and preference for exclusive play with younger
peers or adults. This play may include peers but is not
socially interactive in a flexible manner, such as strong
preferences for electronic games, science fiction, or roleplaying games. Games or activities that minimize or
eliminate the social ambiguities are preferred because
feedback is limited to text on computers without other
social cues, such as tone of voice, timing, or body language involved. Role playing is also appealing because
there is a prescribed interaction that is known or expected, minimizing both ambiguity and demands for
reciprocity. Why would a shy, socially anxious adolescent choose to be on stage? Acting a role defines social
expectations and eliminates the need for interpretation
of intention or feelings of others.
The overfocused interests that often develop in adolescents with social difficulties are a coping mechanism
to deal with the social ambiguities of adolescence. As
long as they are discussing something about which they
are very knowledgeable, there is less need to interpret
social behaviors of others.
When adolescents are observed to be socially isolated
or choosing activities that minimize or eliminate peer
interactions, clinicians should obtain more information about social-emotional functioning. The adolescent
with low sociability needs more structured peer activities. Social coaching, social role playing, and supportive social groups offer opportunities to expand their
social abilities (Winner, 2000). Helping the adolescent
understand how structured social encounters (school
programs, clubs, church) differ from unstructured activities (parties, dates) can increase their awareness and
improve their preparation for these encounters. Parents
may need support to limit time with electronic games
and to increase structured social activities. Social skills
groups are very helpful in providing the opportunity to
discuss and to role play social situations and to get explicit feedback from peers in a supportive, structured
group setting.
SUMMARY
When behaviors associated with social difficulties are
reported, it is helpful to consider the effect to which social cognitive skills are a factor. When a history seems
to eliminate cultural, environmental, trauma, or health
factors, the childs behavior associated with social cognitive abilities should be considered. Most children will not
meet the criteria for a neurodevelopmental disorder, such
as an autism spectrum disorder. However, consideration
379
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39
OPPOSITIONAL BEHAVIOR/
NONCOMPLIANCE
William J. Barbaresi
Vignette
The parents of 3-year-old Joseph report that they cant get him to do anything. When asked to pick
up his toys, Joseph either ignores the request or whines. His parents respond by loudly repeating
the request. Joseph, in turn, loudly refuses or starts to have a tantrum. On some days, his parents find
it easier to just pick up the toys ourselves to preserve the peace. Joseph also has a difficult time
making transitions, particularly from play activities to less interesting activities, such as meals. At other
times, Josephs parents find that they can yell loud enough to get Joseph to comply. Josephs parents
feel that the majority of their interactions with Joseph involve unsuccessful and unpleasant attempts
to get him to obey.
DEFINING OPPOSITIONALITY/NONCOMPLIANCE
Oppositionality/noncompliance refers to the refusal to
initiate or complete a request made by another person
or the failure to follow a rule that is in effect, even if
it is not specifically stated at the time of the noncompliant behavior (Forehand and McMahon, 1981). In
this chapter, the terms oppositional behavior and noncompliance are used interchangeably. Researchers have
described four categories of noncompliant behavior
(Stifter et al, 1999):
1. Defiance: failure to follow directions, accompanied
by behaviors such as whining or aggressive behavior;
2. Passive noncompliance: ignoring adult commands
while maintaining a neutral affect;
3. Self-assertion: verbal refusal to comply with an adult
request while maintaining neutral affect; and
4. Avoidance: actively moving away from an adult in
response to an adult command.
Oppositional behaviors may occur only in certain situations (home, school, daycare) or only in response to certain adult authority figures (parents, teachers) or peers
(Hoffenaar and Hoeksma, 2002). Oppositionality has
both behavioral and emotional aspects (Hoffenaar and
Hoeksma, 2002). In addition to the easily observable
behaviors associated with oppositionality, oppositional
children may respond to threats to their autonomy
with anger and show a lack of fear in response to discipline. This pattern of behavior contrasts with the guilt
or shame that nonoppositional children typically show
when they are disciplined (Hoffenaar and Hoeksma,
382
Temperament
The concept of temperament is reviewed in detail in
Chapter 7. In brief, temperament refers to the how
of a childs behavior, or behavioral style, rather than
to the motivation behind a particular behavior (Chess
and Thomas, 1986). In the original Thomas and Chess
longitudinal study of temperament, 10% of children
manifested a constellation of difficult temperamental traits including irregularity, negative responses to or
withdrawal from novel stimuli, slow or poor adaptability to change, and intense, often negative mood (Chess
and Thomas, 1986). Thomas and Chess stressed the importance of goodness of fit between parenting style
and a childs unique set of temperamental traits. These
concepts are useful in describing the evolution of oppositional behavior. Young children with difficult temperaments may manifest intense, negative responses to
parental commands, particularly if they involve compliance in emotionally charged contexts, such as bedtime
or mealtime. The reaction of the difficult child may
prompt some parents to remove the demand on the
child, thus reinforcing the childs negative response and
contributing to the development of noncompliance. Alternatively, parents may respond with increasingly coercive attempts to elicit compliance, thereby inadvertently
reinforcing the childs initial, negative, noncompliant
response. Although temperament serves as a useful conceptual framework for understanding oppositionality
in young children, there is limited empiric support for
a causal relationship between innate temperament and
oppositionality (Stifter et al, 1999). Recently, however,
it has been found that infants who showed poor ability
to regulate their emotional response to frustrating experiences were more likely to manifest oppositionality
as toddlers (Stifter et al, 1999). Similarly, children with
significant problems with anxiety have been found to
have oppositional behaviors; if a child becomes anxious
when demands are placed on him or her, the likelihood
of noncompliance may increase (Garland and Garland,
2001).
Parenting
Poor parenting has been shown to be associated with
disruptive child behavior, including oppositionality
(Burke et al, 2002). However, the effects of poor or
ineffective parenting are often confounded by the pre
sence of parental psychopathology, making it difficult
to disentangle the relative importance of these factors
(Burke et al, 2002). Nevertheless, certain parenting behaviors do seem to be associated with the development
of disruptive and oppositional behaviors; these include
lack of parental involvement, lack of parental warmth,
harsh and inconsistent discipline, and physically aggressive punishment (Beauchaine et al, 2005; Burke et al,
2002). Mothers of teenagers with oppositional behavior
disorders manifest higher rates of conflict behaviors in
interactions with their children than do other mothers
of teenagers without oppositional behavior disorders
(Fletcher et al, 1996). These parenting behaviors would
clearly fit the description of aversive responses to child
behavior, as described later, and may contribute to the
development of oppositionality in this manner.
383
Example 1
Application of aversive event
Child noncomplies,
whines, yells
Example 2
Application of
aversive event 1
Parent gives
command
Child coercive
response
Child noncomplies,
whines, yells
Application of
aversive event 2
Child response 2
Application of
aversive event 3
Removal of child
coercive response
Parent raises
voice, repeats
command
Child noncomplies,
yells louder, kicks
chair
Parent begins
to yell, repeats
command again
Child complies
Figure 39-1. Negative reinforcement and the development of oppositional behavior. (From Forehand RL, McMahon RJ: Helping the Noncompliant Child: A Clinicians Guide to Parent Training. New York, Guilford, 1981.)
384
Infancy
The infant sometimes flails, pushes away, shakes head, gestures
refusal, and dawdles. These behaviors may not be considered
aggressive intentions, but the only way the infant can show frustration or
a need for control in a response to stress, e.g., separation from parents,
intrusive interactions (physical or sexual), overstimulation, loss
of family member, change in caregivers.
Early Childhood
The childs negative behavior includes saying no as well as all of
the above behaviors but with increased sophistication and purposefulness. The child engages in brief arguments, uses bad language,
purposely does the opposite of what is asked, and procrastinates.
Middle Childhood
The childs oppositional behaviors include all of the above behaviors, elaborately defying doing chores, making up excuses, using
bad language, displaying negative attitudes, and using gestures
that indicate refusal.
Adolescence
The adolescents oppositional behaviors include engaging in more
abstract verbal arguments, demanding reasons for requests, and
often giving excuses.
Figure 39-2. DSM-PC oppositional behavior variant. (From Diagnostic and Statistical Manual for Primary Care [DSM-PC], Child and
Adolescent Version; Wolraich ML, Felice ME, Drotar D [eds]. Elk Grove Village, IL, American Academy of Pediatrics, 1996.)
Infancy
The infant screams a lot, runs away from parents a lot, and
ignores requests.
The child will display some of the symptoms listed for oppositional defiant disorder. The frequency of the opposition
occurs enough to be bothersome to parents
or supervising adults, but not often enough
to be considered a disorder.
Early Childhood
The child ignores requests frequently enough to be a problem,
dawdles frequently enough to be a problem, argues back while
doing chores, throws tantrums when asked to do some things,
messes up the house on purpose, has a negative attitude many
days, and runs away from parents on several occasions.
Middle Childhood
The child intermittently tries to annoy others, such as turning up the radio
on purpose, making up excuses, begins to ask for reasons
why when given commands, and argues for longer times. These
behaviors occur frequently enough to be bothersome to the family.
Adolescence
The adolescent argues back often, frequently has a negative
attitude, sometimes makes obscene gestures, and argues and
procrastinates in more intense and sophisticated ways.
Figure 39-3. DSM-PC oppositional behavior problem. (From Diagnostic and Statistical Manual for Primary Care [DSM-PC], Child and
Adolescent Version; Wolraich ML, Felice ME, Drotar D [eds]. Elk Grove Village, IL, American Academy of Pediatrics, 1996.)
as parental substance abuse and low socioeconomic status appear to increase the likelihood that oppositional
behaviors will progress over time (Loeber et al, 1995).
However, many children with significant oppositional
behaviors do not progress to more serious behavior disorders over time (Lahey et al, 1992).
EPIDEMIOLOGY
It may be neither possible nor necessary to precisely
define the prevalence of oppositional behaviors, particularly if one is referring to the normative oppositionality that occurs in all children. It is more important
to recognize that behavior problems are identified as one
of the most common problems encountered in pediatric
practice, with oppositional behaviors among the most
385
Description
Frequency
Duration
Parent Response
Child Response
Bedtime
Mealtime
Bath time
On phone
Visitors at home
Visiting others
Car
Public places
(e.g., stores)
School
Siblings
Peers
Other parent/relative
Disciplinary
procedures
Other
From Forehand RL, McMahon RJ: Helping the Noncompliant Child: A Clinicians Guide to Parent Training. New York, Guilford, 1981
ASSESSMENT OF OPPOSITIONAL/
NONCOMPLIANT BEHAVIOR
An assessment of oppositional behavior depends on
understanding basic behavior principles. First, clinicians must distinguish between negative and positive
reinforcement of a childs noncompliant or oppositional
behavior (Forehand and McMahon, 1981). Negative reinforcement refers to the withdrawal of an aversive event
in response to a noncompliant or oppositional behavior
(e.g., removing a parental request for compliance when
a child resists the parental request). In contrast, positive
reinforcement occurs when a pleasant consequence occurs in response to a behavior (e.g., parental attention
or soothing in response to a noncompliant behavior).
Both negative and positive reinforcement may contribute to the development of oppositional/noncompliant
behaviors, as described earlier. These concepts should
be kept in mind when inquiring about a childs oppositional/noncompliant behavior.
Oppositional and noncompliant behaviors can be
understood only in the context of parent-child interaction. It is therefore essential to inquire not only about
the nature, timing, and frequency of problem behaviors
but also about the antecedents and the consequences
(including parental response) to these behaviors. For
most clinicians, this information may be most efficiently
obtained through a careful interview. This should begin
with open-ended questions about problem behaviors.
Subsequently, the interview should focus on common situations in which oppositional and noncompliant behaviors typically occur (Table 39-1). During the
interview, the clinician will obtain additional, important
386
relationships often seem to literally be defined and dominated by this cycle of negative interaction. Parents often
describe their management of their childs behavior as an
effort to survive the crisis of the moment, even when
they seem to recognize that the strategies that allow them
to end a negative child behavior may increase the likelihood that the behavior will recur. More often, parents
who are locked in such negative interaction cycles with
their children do not recognize the factors that initiated
and sustain the childs negative, oppositional behaviors.
Knowledgeable primary care clinicians may be able to
prevent the development of more severe forms of oppositional behavior by providing sound advice and guidance on positive parenting approaches that help parents
avoid the negative reinforcement trap and positive reinforcement trap described before. For the developmental and behavioral clinician, it is likely that parents and
children will be evaluated at a point when oppositional
behavior problems are more firmly established.
In the vignette at the beginning of this chapter, the
parents of 3-year-old Joseph may not have recognized
their sons temperamentally determined difficulty with
transitions. This trait may have increased the likelihood
that Joseph would not respond to parental requests, in
turn leading his parents to adopt more forceful yet less
effective management strategies (yelling loud enough).
Joseph and his parents were thus locked in a typical
negative reinforcement trap. At times, Josephs parents
lacked the energy to enforce their requests, thereby compounding Josephs noncompliance by inadvertent, positive reinforcement. If Josephs parents had understood
their sons temperamentally determined difficulty with
transitions, they may have been able to adopt management approaches that would not have led to the negative
interactions that eventually dominated their interactions
with Joseph.
Parent management training is an empirically
supported psychosocial treatment for children with
oppositional behavior problems (Brestan and Eyberg,
1998; Webster-Stratton, 2005). A number of differ
ent parent management training programs have been
developed. Two such programs with long track records and research support are those developed
by Forehand and Webster-Stratton (Forehand and
McMahon, 1981; Webster-Stratton, 2005). These and
other effective parent management approaches have
several key features in common. The interventions are
based on an understanding of the need to reverse the
negative parent-child interactions that perpetuate oppositional behaviors. Specific instruction in more appropriate parenting techniques, including limit setting
and discipline, are not introduced until after parents
have been taught to re-establish positive interactions
with their children. Parent management approaches
have been demonstrated to decrease oppositional behaviors both immediately after the intervention and in
follow-up studies lasting up to several years (Forehand
and McMahon, 1981; Reid et al, 2004; WebsterStratton, 2005). Perhaps most important, parent
management training has been found to interrupt the
progression of disruptive behavior patterns in young
children (Reid et al, 2004). Following is a description
of the basic steps included in effective parent management interventions (Forehand and McMahon, 1981;
Webster-Stratton, 2005).
Effective Discipline
This stage of the intervention teaches parents to employ
time-out as a discipline strategy. In addition to the basic steps involved in implementing a time-out, parents
are taught ways to avoid engaging in power struggles
during the time-out, how to follow through with children who refuse to enter or stay in time-out, and how
to implement time-out outside the home. The goal of
this stage of the intervention is to replace coercive, ineffective discipline with a more effective, noncoercive
approach.
PHARMACOLOGIC TREATMENT
OF OPPOSITIONAL BEHAVIOR
There is some evidence to suggest that oppositional
behaviors may diminish in response to psychopharmacologic treatment in certain, limited circumstances. In
particular, children with attention-deficit/hyperactivity
disorder and significant oppositionality may show shortterm improvement in oppositional behavior when they
are treated with psychostimulants (Farmer et al, 2002).
However, there is no empiric support for psychopharmacologic treatment of oppositional behavior in general
(Farmer et al, 2002).
SUMMARY
Oppositional behaviors are among the most common
problems encountered in pediatric practice. Oppositional
behaviors may be more likely to develop in children with
a constellation of difficult temperamental traits, particularly if the child is socioeconomically disadvantaged or if
the family is characterized by marital discord, maternal
depression, or parental substance abuse. However, functionally significant oppositional behaviors may occur as
a feature of normal development and in families that do
not have any of these risk factors. Coercive parent-child
interactions play a central role in the initiation and progression of oppositional behaviors. Effective, empirically
supported interventions for oppositional behavior problems are based on systematic parent management training. Further research is needed to develop clinically useful
instruments to assess oppositional behaviors, particularly
for children who have functionally significant problems
but do not meet criteria for a diagnosable disorder.
REFERENCES
Abidin RR: Parenting Stress Index, 3rd ed. Professional Manual.
Odessa, FL, Psychological Assessment Resources, Inc, 1995.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed, text revision. Washington, DC,
American Psychiatric Association, 2000.
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Gau SS, Chong MY, Chen TH, Cheng AT: A 3-year panel study of
mental disorders among adolescents in Taiwan. Am J Psychiatry
162(7):1344-1350, 2005.
Harada Y, Saitoh K, Iida J, et al: The reliability and validity of the
Oppositional Defiant Behavior Inventory. Eur Child Adolesc Psychiatry 13(3):185-190, 2004.
Hoffenaar PJ, Hoeksma JB: The structure of oppositionality: Response
dispositions and situational aspects. J Child Psychol Psychiatry
43(3):375-385, 2002.
Kazdin AE: Parent management training: Evidence, outcomes, and
issues. J Am Acad Child Adolesc Psychiatry 36(10):1349-1356,
1997.
Keenan K, Wakschlag LS: Can a valid diagnosis of disruptive behavior disorder be made in preschool children? Am J Psychiatry
159(3):351-358, 2002.
Lahey BB, Loeber R, Quay HC, et al: Oppositional defiant and conduct disorders: Issues to be resolved for DSM-IV. J Am Acad Child
Adolesc Psychiatry 31(3):539-546, 1992.
Lahey BB, Schwab-Stone M, Goodman SH, et al: Age and gender differences in oppositional behavior and conduct problems: A crosssectional household study of middle childhood and adolescence.
J Abnorm Psychol 109(3):488-503, 2000.
Lavigne JV, Cicchetti C, Gibbons RD, et al: Oppositional defiant
disorder with onset in preschool years: Longitudinal stability and
pathways to other disorders. J Am Acad Child Adolesc Psychiatry
40(12):1393-1400, 2001.
Lengua LJ, Sadowski CA, Friedrich WN, Fisher J: Rationally and empirically derived dimensions of childrens symptomatology: Expert
ratings and confirmatory factor analyses of the CBCL. J Consult
Clin Psychol 69(4):683-698, 2001.
Loeber R, Green SM, Keenan K, Lahey BB: Which boys will fare
worse? Early predictors of the onset of conduct disorder in a
six-year longitudinal study. J Am Acad Child Adolesc Psychiatry
34(4):499-509, 1995.
Loeber R, Burke JD, Lahey BB, et al. Oppositional defiant and conduct disorder: A review of the past 10 years, part I. J Am Acad
Child Adolesc Psychiatry 39(12):1468-1484, 2000.
40
AGGRESSION, VIOLENCE,
AND DELINQUENCY
Stephen S. Leff, Callista Tulleners,
and Jill C. Posner
Vignette
A 10-year-old girl comes to the office for an evaluation for abdominal pain. This is her third visit
in 2 weeks for the same complaint. She has no fever, vomiting, diarrhea, constipation, or other
constitutional complaints. Her mother is becoming increasingly concerned because her daughter
has missed 8 days of school. The childs physical examination findings are normal with the exception
of mild, periumbilical tenderness without rebound or guarding. On further questioning at this third
visit, the girl reluctantly reveals that a classmate has been spreading rumors about her and she feels
like all her friends are turning on her.
BACKGROUND
Helping children and adolescents recognize and appropriately respond to conflict situations is often left to
parents, school systems, or psychotherapists. However,
there are many things that pediatric health care providers can do to understand the scope of the problem, to assess a childs behavioral tendencies, to monitor a childs
behavioral progress, and to work collaboratively with
parents and schools.
Low-level aggressive behavior (such as hitting, pushing, or threatening others) is present as early as preschool
and is a constant source of frustration and concern for
many children as they become older. In fact, a nationwide study indicated that 29.9% of sixth to tenth graders
reported moderate or severe involvement with bullying,
with 13% being involved as the bully, 10.6% being involved as the victim, and 6.3% being involved as both
a bully and a victim (Nansel et al, 2001). In addition
to those youth involved as a bully, as a victim, or as
both a bully and a victim, many students frequently witness these low-level conflicts when they occur at school.
These individuals have been termed bystanders because
they do not actively try to resolve the conflict but passively support the aggressor or bully by not intervening.
Thus, low-level aggression and victimization occur frequently among school children and are important issues
to address for all students, not just for the aggressors or
victims.
In the first part of the chapter, we define aggression
and then distinguish it from several related constructs.
Then we discuss some of the current subtypes of aggression and provide information on the etiology and
theoretical premises of the development of aggression.
In the second part of the chapter, we focus on the pediatricians role in curtailing the problem of youth violence.
Finally, in the last part of the chapter, we discuss practical issues including straightforward techniques that pediatric health care providers can use with children and
families around problems of aggression and also tips on
recognizing when referral to a mental health specialist
may be indicated.
DEFINITIONAL ISSUES
Table 40-1 includes definitions for terms that are used
in this chapter. Aggression is behavior that is intended
to harm or to hurt another individual. Physical or overt
aggression includes dominant actions such as hitting,
pushing, and shoving. Relational or social aggression
includes socially manipulative behaviors, such as starting rumors, ignoring others on purpose, threatening to
withdraw friendships, and using social exclusion to harm
ones social standing (Crick and Grotpeter, 1995). The
term bullying is often used interchangeably with aggression, even though the research has clearly differentiated
these two terms. Bullying is a form of aggression in that
it is intended to harm or to hurt another individual either
physically or socially and meets two additional criteria
(see Rigby, 2002). First, the behavior must occur within
the context of an imbalance of power, either physically,
such that one child is stronger or larger than the victim,
or psychologically, such that the bully has higher social
standing than the victim. Second, the bullying behavior must occur repeatedly over time. Thus, when two
children of equal strength or status become involved in
an occasional conflict or fight, the term bullying is not
appropriate. However, if the tallest child in the class
389
390
Definition
Aggression
Physical or overt
aggression
Relational or social
aggression
Bullying
Violence
Delinquency
EPIDEMIOLOGY OF AGGRESSION
AND ASSOCIATED PROBLEMS
In the past, aggressive behaviors were largely conceptualized as being physical, direct, and overt in nature (e.g.,
hitting, pushing, or kicking), and therefore boys were
viewed as being considerably more aggressive than girls.
However, the gender gap is lessened when one considers
the way in which children typically aggress toward others, boys in a physical and overt manner, and girls in a
social, indirect, and often covert manner affecting ones
social standing (see Crick and Grotpeter, 1995).
Both forms of aggression have been associated with
a number of comorbidities. Physical aggression is associated with academic deficits, social problem solving
difficulties, emotional arousal deficits, peer relationship
problems, and, for some children, extension of physically aggressive behavior into adolescence and adulthood (Loeber et al, 1993). Relational aggression is
associated with internalizing problems (such as loneliness, depression, and anxiety), peer relationship difficulties, and problem solving deficits (Crick and Grotpeter,
1995). Thus, children who engage in low-level aggressive behaviors (either physical or relational) during the
elementary and school-age years are likely to experience a number of comorbid difficulties that can cause
SUBTYPES OF AGGRESSION
In this chapter, we briefly review three common conceptualizations to categorize childrens aggression.
Conduct disorder is a more serious diagnostic category than oppositional defiant disorder and consists of
a pattern of behavior in which the rights of others and
major societal rules and norms are frequently violated.
In general, conduct disorder is associated with alcohol
and drug use, early sexual behavior, and persistent recklessness and risk-taking behaviors. Prevalence rates for
conduct disorder range from 1% to 10%. Conduct disorder is differentiated from oppositional defiant disorder because it often involves serious aggression toward
people or animals, destruction of others property or belongings, and deceit or theft. There are both child-onset
and adolescent-onset subtypes of conduct disorder.
Biologic/Psychobiology
Prior research suggests that one may inherit a biologic
vulnerability or underlying temperament to exhibit aggression, which has been called a diathesis. It is thought
that aggressive behavior most likely results from the
interaction between a diathesis (this biologic predisposition toward being aggressive) and an environmental
or psychosocial stressor that influences one to act in an
aggressive manner (diathesis-stress model). Aggressive
behavior is complex and multidetermined.
A number of genetic and pharmacologic studies have
increased our knowledge of the role of neurotransmitters, hormones, and enzymes that may influence aggressive behavior. Here we review a few recent findings
about neurotransmission and neuroanatomy. Studies
have found that high levels of dopamine or low levels
of serotonin may be associated with aggressive behavior
in both humans and animals (Nelson and Chiavegatto,
2001). The frontal lobes are posited to suppress or to inhibit signals from lower brain regions, such as the amygdala, which has been associated with emotional arousal,
excitement, fear, and aggression. The orbital frontal region of the brain is thought to be involved in the modulation of aggressive behavior. Lesions of the frontal lobe
may increase the risk of aggressive and violent behaviors
(Grafman et al, 1996).
Social Learning
Social learning theories suggest that children learn to exhibit aggressive behaviors because they observe others
acting aggressively and can see how these behaviors are
reinforced over time (Bandura, 1973). Social learning
391
Developmental/Ecologic
Developmental/ecologic theories of aggression suggest
that behavioral sequences become entrenched because
of the series of interactions an individual has with others in his or her social environment (Bronfenbrenner,
1986). The childs behavior is believed to be influenced
greatly by his or her biology; interactions with parents
and siblings, peers, diverse school personnel, and caregivers; and the larger community and cultural context
in which he or she resides. Each of these interactions
influences children as they mature and in many cases are
thought to play a role in the development and maintenance of aggression.
Integration of Theories
Many researchers use a diathesis-stress framework for
understanding the integration of theories and the interplay between nature and nurture in the influence of aggression. A diathesis-stress model suggests that aggressive
behavior occurs when a predisposed child (a child with
a genetic or psychological vulnerability) is in a stressful
or provoking situation or environment. Thus, the biologic and social information processing theories suggest
the importance of different types of biologic and psychological vulnerabilities, whereas the social learning and
developmental/ecologic (and also social information processing) theories focus more heavily on the influence of
environmental stressors in the expression of aggression.
392
discussing alternative forms of discipline. Encouragement of nurturing and nonviolent behaviors is another recommendation. Pediatric health care providers
can also become involved in violence-related research
through practice-based research projects (Task Force on
Violence, 1999).
Pediatric health care providers can assist in integrating treatment care plans relating to violence prevention and behavioral management across important life
contexts, including the home, school, and community.
As such, pediatric health care professionals play an essential role in coordinating and organizing services for
many youth and their families.
Pediatric health care providers encounter barriers as
they assume these roles in addressing youth violence.
These barriers include limited training in prevention
programming, relatively short office visits, and substantial reimbursement challenges for many patients. The
following section offers practical suggestions related to
assessment, advocacy, treatment, and referral.
Friendships
Is it easy for you to make and to keep friends?
Do you have a lot of friends? If so, please tell me about some
of your friends.
Do you have a best friend? If so, can you tell me about him
or her?
What activities or things do you like to do with your friends?
Are your friends nice to other children and youth?
Problem Solving
How can you tell when there is about to be a problem or conflict
at school?
If you become involved in a conflict, argument, or fight with
another child your age, do you usually think that it was the
other persons fault?
What do you do to try to resolve conflicts, arguments, or fights
when you are involved?
What do you do to try to resolve conflicts, arguments, or fights
when they happen to other children?
and efficient index of the childs level of physically aggressive, relationally aggressive, and prosocial behaviors. The advantages of using teacher reports are that
they are easy to administer and to score, they do not
require the health care provider to interfere with valuable class time or the teacher to interrupt clinical care,
and they are consistent with typical referral practices as
teachers often refer students who are having externalizing behavior problems (Leff et al, 1999).
Parents are often unfamiliar with their childs behavior in school settings in which conflicts typically occur
(e.g., playground, lunchroom, hallways) and thus may
not be sensitive reporters for subtle peer relationship difficulties. Parent report measures have utility in providing
information about the childs behavioral functioning in
the home and community. The parent version of the Behavior Assessment System for Children and the Child Behavior Checklist have demonstrated strong psychometric
properties across numerous studies. The parent version
of the Childrens Social Behavior Questionnaire is easily
administered, scored, and interpreted. Finally, the Social
Skills Rating System (Gresham and Elliot, 1990) has been
393
394
to the childs empathic behaviors and perspective taking skills are also instructive for treatment planning (see
Table 40-3).
Parent-Child Communication
It is extremely important for a pediatric health care provider to screen for and to assess how well a child and
parent are communicating about the childs social relationships, school behaviors, and overall psychosocial adjustment. A youth who shows high levels of aggression,
peer rejection, or social withdrawal is more at risk if he
or she does not have an adult to confide in. Although
there are few well-validated and brief assessment tools
in this area, several specific screening questions can be
asked by pediatric health care providers in the context
of an office visit as outlined in Table 40-3. These questions will provide a deep understanding for the pediatric
health care provider about the childs home and school
context and can be helpful in the referral and treatment
recommendation process.
TREATMENT STRATEGIES
In this last section, we discuss some straightforward
techniques that pediatric health care providers can use
to address low-level conflicts and peer relationship struggles with their patients and families in the context of the
office visit. These techniques are likely to be warranted
when the screening questions provided in Table 40-3 indicate that a child has difficulties with conflicts (as an
aggressor, victim, or both), social skills and friendships,
and problem solving challenges. It is recommended that
pediatric health care providers refer the child and family
to a mental health specialist if these techniques cannot
be implemented or if brief interventions do not help to
alleviate the low-level aggression and peer relationship
difficulties. We discuss strategies within each of the following four areas and summarize the recommendations
in Table 40-4.
Promoting Friendships
Have short structured outings or play dates within a structured
and fun setting.
Be a good friend to others.
Set specific goals related to the development and maintenance
of prosocial friendships.
395
SUMMARY
Pediatric health care providers are in a unique role in
the prevention of youth violence. Pediatric health care
providers can become involved in the prevention of
violence through many activities, including advocacy,
anticipatory guidance, practice-based research projects,
and coordination of care services for their patients. This
chapter focuses on their role in the screening for and assessment of low-level aggression and related comorbidities. Pediatric health care providers are uniquely situated
to direct screening, assessment, and follow-up treatment
or referral to a mental health specialist to help their patients better navigate peer-related challenges associated
with being the aggressor or victim of low-level conflicts
at school. Specifically, screening questions can be used
to determine whether a child is struggling with peer aggression or victimization, social skills development and
friendship making skills, problem solving and perspective taking abilities, and communication between the
396
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Crick NR: The role of overt aggression, relational aggression, and
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Elias M, Maher C eds: Handbook of Prevention and Intervention in Peer Harassment, Victimization, and Bullying. New York,
Haworth, 2007, pp 199-218.
Leff SS, Costigan TE, Power TJ: Using participatory-action research to
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teacher predictions of peer bullying and victimization. School Psychol Rev 28:505-517, 1999.
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Nansel TR, Overpeck M, Pilla RS, et al: Bullying behaviors among US
youth: Prevalence and association with psychological adjustment.
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Nelson RJ, Chiavegatto S: Molecular basis of aggression. Trends Neurosci 24:713-719, 2001.
Reynolds CR, Kamphaus RW: The Behavior Assessment System for
Children, Teacher Rating Scales (BASC-TRS). Circle Pines, MN,
American Guidance Service, 1992.
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prevention in clinical practice and at the community level. Pediatrics 103:173-181, 1999.
41
SOCIAL WITHDRAWAL
AND ISOLATION
Raymond H. Starr, Jr.,
and Howard Dubowitz
Vignette
John was a difficult child from birth. As an infant, he was upset easily by new situations and people,
cried a lot, and was difficult to soothe. Caring for him was frustrating and upsetting for his parents.
Initially, their reactions were caring; however, gradually, they changed, first to increasing anger at
John and finally to neglecting Johns needs. Johns father lost his job shortly after John was born,
adding the stress of income loss to the frustration of having a difficult child. John developed
an insecure attachment, crying uncontrollably when his mother picked him up at daycare and
increasingly withdrawing from new people and situations. As he entered preschool, he avoided
playing with peers, preferring solitary activities. As he got older, John had difficulty learning how to
behave in peer or adult-child social situations. He became anxious. In childhood, he was rejected and
unpopular. His parents tried mightily to get him to engage in social activities. As John approached
adolescence, he developed a negative perception of his abilities to socialize with others, a frame of
mind that led to further withdrawal. Over time, his internalizing difficulties broadened into major
depression.
398
Possible Causes
Social withdrawal
Isolation
EPIDEMIOLOGY
Exact estimates of the proportion of children with social
withdrawal and isolation are not available. What data
are available describe clinical disorders or major risk
factors. However, anxiety disorders are one of the most
common forms of adult psychopathology. Approximately 7% of adults experience clinical levels of social
phobia in a given year (National Institute of Mental
Health, 2006). Similarly, anxiety disorders are among
the most common reasons for mental health treatment
referrals in children, with generalized anxiety disorder
having a lifetime prevalence rate of slightly less than 4%
(Vasey and Dadds, 2001) and social phobia being present
in 1% to 2% of children (Crozier and Alden, 2001). In
addition, there are high rates of comorbidity for various
anxiety disorders. A lack of close friends in adolescence
is a predictor of low self-esteem in adults. If we consider
a chronic lack of a close friend to be a proxy for social
withdrawal and isolation, then significant numbers of
adolescents are at risk for problems. For example, 15%
of fifth graders have no close friend. Overall, studies
have found incidence rates of anxiety disorders ranging
from 10% to 17%, with higher rates among girls and
younger children (Vasey and Dadds, 2001).
A childs age and gender are associated with social
withdrawal and isolation and related behavior problems
(Rubin and Coplan, 2004). As is discussed later, children
withdrawn in early childhood tend to exhibit a negative
behavioral trajectory with age. They are increasingly rejected by their peers, form negative self-concepts, and
become more isolated and depressed in the absence of appropriate interventions. In addition, boys who exhibit social withdrawal and isolation in early childhood are more
at risk for later behavior problems than are girls. This may
be a result of shy and withdrawn behaviors being considered less appropriate for boys. Indeed, parents view social
399
Table 41-2. Factors Contributing to the Development of Social Withdrawal and Isolation
Life Stages
Infancy
Toddler-Preschool
School Age
Adolescence
Child factors
Dysregulated behavior
Easy arousal
Difficulty in calming
Behavioral inhibition
Poor peer relationships
Insecurity in social situations
Immaturity
Loneliness
Unpopular
Withdrawn
Peer victimization
Internalizing disorders
Parental
responses
Additional
contributions
Anxiety
Excessive vigilance
Overinvolvement and
overprotection
Low sociability among parents
Beliefs in strong responses
to inappropriate behavior
Limited out-of-home
experiences
Isolation
Anxiety
Poor self-esteem
Awareness of social
differences and deficits
Negative parental
perceptions
Negative parental care
Coercive parenting
No friends
Friends who are also
withdrawn or isolated
Peer rejection
THEORY
The study of social withdrawal and isolation has a
long history and has been considered by many different
theorists. Psychoanalyst Sullivan considered the presence of a close peer (chum) in adolescence a critical
element in typical social and personality development.
Developmental theorists such as Werner and Bronfenbrenner emphasized the contexts of development in
which multiple, nested, and interacting contexts in combination with individual characteristics must all be considered to fully understand development.
The developmental psychopathology approach exemplifies a holistic or multifactorial view. Attachment
theory focuses on early parent-infant relationships as a
model for all other relationships. Family systems theory
emphasizes family dynamics. Biologically oriented models also incorporate interactions across contexts (Vasey
and Dadds, 2001). Finally, learning theory emphasizes
how environmental events shape behavior (Vasey and
Dadds, 2001).
Rubin and colleagues (2003) emphasize understanding the interactions among these processes at different
ages. Multiple feedback loops are established between
child, maternal, and contextual factors. In the absence
of intervention, these interactions can escalate into maladaptive child behaviors.
The cycle of social withdrawal and isolation often
begins in the neonatal period and is characterized by
dysregulated behavior (an easily aroused and difficult-tocalm child) and a mother who, while concerned for her
infant, is vigilant and overly solicitous. This combination
can lead to a wary, behaviorally inhibited toddler, particularly in the case of an insecure-resistant or avoidant
mother-child attachment in which the mother remains
anxious, vigilant, and overly involved. When this happens, her behaviorally inhibited child can reinforce these
maternal behaviors, resulting in an escalating spiral.
Peer relationships become increasingly important in
preschool. The childs social inhibition often correlates
ETIOLOGY
This section reviews research on the causes and correlates of social withdrawal and isolation. A wide range of
research is reviewed to outline the factors that should be
considered in diagnosis of and intervention with children
at risk for development of these internalizing disorders
or who already exhibit behavior problems. Table 41-2
summarizes the child factors, parental responses, and
400
general environmental conditions associated with social withdrawal and isolation. Whereas these factors are
discussed in roughly chronologic order, it is important
to consider their possible presence and influence over a
wide age range.
Temperament
Temperament refers to a constitutionally based pattern
of emotional responses to social and environmental
stimuli (see Chapter 7). It includes response rapidity,
intensity, and predictability as well as overall mood and
motivation. It is a major theme in considering infant
and child development and also plays an important part
in adolescent and adult personality (Vasey and Dadds,
2001). Social withdrawal and isolation have been
important constituents of temperament since Thomas,
Chess, and Birch (1969) developed the construct.
Indeed, one of their three typologies, the slow to warm
up child, resembles the prototypical infant with social
withdrawal and isolation.
There are many different approaches to describing
temperament. All view it as biologically based, observable soon after birth, and representing stable, relatively
long lasting behavioral dispositions that respond to
stimuli in a consistent manner. However, manifestations of temperament can vary over time. Crying by an
8-month-old child separated by a barrier from a desired
toy is an adaptive response. The same behavior by a
2-year-old would be maladaptive; trying to overcome
the barrier would be adaptive.
One model described by Fox and colleagues (2005)
provides the basis for the present discussion. Temperament has two interacting dimensions: (1) intensity and
latency of reactions to stimuli and (2) self-regulation, the
ability to control reactions to stimuli. The ability to selfregulate has an impact on the consequences of high reactivity to stimuli (e.g., crying). Low self-regulation and
high reactivity, particularly when parental responses are
inappropriate, can initiate a negative trajectory with
child behaviors worsening over time. In the absence of
helpful intervention, the rate of acceleration is likely to
increase.
The ability to regulate attention and emotion begins to
develop in infancy and is physiologically based (Calkins
and Fox, 2002). Infants presented with upsetting stimuli
learn a number of strategies to avoid emotional distress,
such as redirecting their attention to other objects or
people. Emotions as well as cognitions begin to be regulated in infancy. Of particular importance are the development of the ability to control negative affect by
soliciting help and support from others and the acquisition of self-soothing abilities.
Deficits in emotion regulation are biologically based
(Fox et al, 2005). Much of the research in this area has
been concerned with behavioral inhibition, a pattern of
avoidance and negative response to unfamiliar people
and stimuli. Behaviorally inhibited individuals show
several patterns of central nervous system activation.
These include increased asymmetric frontal lobe electroencephalographic activation, with the right frontal lobe
being more reactive, and increased limbic system and
amygdala activation. Similarly, new events and people
demands. Parental behaviors may actually inhibit development by limiting the childs chances to learn through
play in novel environments.
The second set of correlated behaviors includes
overly solicitous, protective, and intrusive parenting
(Rubin and Coplan, 2004). That is, parents of shy, behaviorally inhibited children limit their childs exposure
to social situations in which they might experience upset. As a result, these children do not learn to manage
such encounters and withdraw even more. Parents thus
reinforce their childs biologically based behavioral
predispositions.
Parental factors may reinforce and maintain social
withdrawal. Parents are aware of the childs inhibited
response patterns, seek to help the child cope with the
inhibitions by being overly protective and solicitous,
and thus limit exposure to new events and people,
exacerbating the inhibition. Thus, socially reticent
4-year-olds are more likely to be reticent 3 years later
(Crozier and Alden, 2001).
These interactions of child characteristics, parental beliefs, and parental behaviors parallel the development of attachment, the prototypical relationship
template. Relationships through life are based on this
template. Securely attached infants learn to trust others and develop positive self-esteem by feeling worthy
of others trust. Additional skills that develop from this
framework include reciprocity in social relations and
empathy. Children with deviant attachments are more
likely to develop inappropriate forms of these skills.
Thus, temperamentally overreactive infants with unresponsive or insensitive parents tend to develop insecureambivalent attachments (Crozier and Alden, 2001).
They are ambivalent, seeking and then avoiding contact,
and at greater risk of becoming behaviorally inhibited
toddlers.
Peer Relationships
Peer relationships become increasingly important as
toddlers become preschoolers. These relationships provide opportunities to learn reciprocity, to cooperate in
pursuing common goals, to help form accurate selfperceptions, and to foster emotional security. Along
with attachment bonds, they form templates for future
relationships (Rubin et al, 2005). Insecure parent-child
attachment relates to both peer relationships and the
presence of externalizing and internalizing problems.
Two factors are key (Rubin et al, 2005): having at least
one friend and being accepted by peers. For example,
children victimized by peers who lacked a close friend
were more likely to have externalizing and internalizing
behavior problems. However, when best friends have
behavior problems, young teens are more likely also to
display such problems, suggesting that the influence of a
close friend need not be positive.
Considering this, it is surprising that socially isolated
and withdrawn children neither lack close friends nor
have unstable friendships (Rubin et al, 2005). Most children report that they have a close friend. It is the nature
of this friendship, not its presence or absence, that is
important. Withdrawn childrens friendships lack support, intimacy, and validation. Behavior problems are
401
found in children who both lack friends and are shy and
withdrawn or have a close friend who also has similar,
negative behaviors.
In summary, peer relationships and friendships maintain and reinforce early behavior patterns. They provide
a context for the development of key aspects of behavior,
and in turn, the presence, absence, and consequences of
friendships have lifelong implications. The roles of peers
and friendships are not revolutionary. Rather, they are
evolutionary, enhancing, inhibiting, and modifying existing behavioral tendencies.
402
Comments
Parent interview
Questions:
How is she or he doing at home? at school? with friends?
What would you like your child to be doing socially?
History of interventions for social withdrawal and isolation,
including apparent reasons for success or failure of
approaches
Assessment of childs temperament and behavioral style
(see Chapter 78)
Parental beliefs and attitudes
Formal interviews, such as Kiddie Schedule for Affective
Disorders and SchizophreniaPresent and Lifetime Versions
Questions:
Who are your friends?
Where do you play with them?
What do you like to do?
What do other people think of you and your friends?
How does your friend make you feel?
General appearance of the child
Social behavior with other children in waiting room
Parent-child interactions during initial wait and during stress
Ability of child to converse with adults
Child Behavior Checklist, including Teacher Report Form
and Youth Self-Report
Strengths and Difficulties Questionnaire
Social Anxiety Scale for ChildrenRevised
Social Phobia and Anxiety Inventory for Children
Anxiety Disorders Association forms
Daycare provider or teacher Coaches, tutors, other adults
Child interview
Informal observation
Standardized checklists
or questionnaires
Other sources
appears superficially similar to social withdrawal, although in reality they differ significantly. Chinese mothers view social withdrawal negatively but value reserved
behavior in children. Indeed, they view and respond to
withdrawal more negatively than do American mothers.
This difference may reflect the need to foster different
values and characteristics in collectivist compared with
more individualistic cultures. Thus, whereas all cultures
value social competence, the nature of that competence
varies. Caution is warranted in generalizing from studies
of European-American groups to children and families
from different cultures (Rubin et al, 2003).
ASSESSMENT
Assessment aims to determine whether a behavior problem is present and to decide on a course of remedial
action. If a problem is suspected, a first issue is whether
the exhibited behavior is within the range considered to
be normal. This requires knowledge of normal behavior and also the thoughts and feelings of the child and
those in the childs environment about the acceptability
of the behavior. The possible ramifications of the behavior should be assessed in clarifying the childs functioning, in different contexts (home, school, with peers).
Social withdrawal and isolation can be assessed in
varied ways. Table 41-3 summarizes assessment options. Parent and child interviewing, informal observation, completion of standard forms, and unstructured
direct observation can be integrated into routine practice.
Additional input from a daycare provider or teacher can
be valuable. The following recommendations are based
Informal Assessment
Informal assessments are an important part of every
clinical visit. A major component is observing and asking about beliefs, behaviors, and interactions. One key
question is whether the child appears to be socially withdrawn or isolated. A second question is how that might
be impeding his or her functioningat home, with
friends, at school. It is also important to ascertain how
the child feels about his or her situation. Then, there is
the question of what may be contributing to the behavior problem. Fourth, determine what interventions have
been tried, including how the parent responds to the
child. The possible role of different cultural beliefs and
practices should be considered. The important factors
vary somewhat by age of the child.
In infancy, key foci include child temperament, parental history, parenting beliefs, and parent-infant interaction. Examples include observing how the parents
perceive their infant, how they soothe their upset child,
and their level of anxiety and asking what concerns
they may have. The family history could include mental
health problems such as anxiety disorders. Such issues
can be raised in an initial visit within a context of getting to know you. Pediatricians also need to be aware
of normal stranger anxiety, which develops around
9months of age, producing selective social withdrawal
without impairing relationships with familiar adults and
children.
The focus changes with toddlers to issues of attachment and the childs initial social relationships with
adults and peers. A childs recall of a previous pediatric visit may evoke fear and withdrawal. It is always
useful to ascertain how the child usually behaves, in
a variety of settings. Parents should be encouraged to
seek input from daycare and preschool providers and
teachers about their childs social interactions and their
responses.
Direct interviewing of the child is useful in assessing
how a child engages the larger social environment and
becomes appropriate in the preschool and middle childhood years. One can ask children about friendships, what
they like to do with friends, their feelings, and whether
anyone bothers them. Other issues, such as changes in
family structure and function, life events, and parental
monitoring of child activities, can be addressed.
Peer relations and extrafamilial activities become
more important in adolescence. Issues include solitary
and group activities, computer use, and parent-teen
communication patterns.
To conclude, these factors should be looked at over
time. Are things getting better for the child, or worse?
What do parents and teens see as problem areas? Do
they agree on areas where things seem to be going well
or poorly? What is being done to resolve these situations? Input from childcare and educational professionals can be valuable.
Formal Evaluation
Questionnaires and checklists, although commonly
used, have problems. First, self-reports of internalizing
problems lack validity before middle childhood. Thus,
reports are obtained from others, typically parents and
teachers. Whereas self-reports become increasingly valid
with age, correlations between adolescent, parent, and
teacher reports remain low. These respondent appraisal
differences are due to the difficulty of observing internal
emotional states that underlie social withdrawal and isolation and reporting individuals differing perspectives
on the child. Additional factors are important. For example, attachment organization is related to informant
disagreement. Greater adolescent-parent disagreement
about internalizing and externalizing problems was present among insecurely attached teens. Clinicians should
consider reports from multiple individuals and be open
in interpreting discrepant views. For example, whereas
clinicians rely more on parental than on teen problem
reports in diagnosis and treatment planning, this may
not be a good idea. Indeed, agreement may not be a
key factor. Instead discrepant reports can be viewed as
a consequence of different perspectives on experiences;
parents do not necessarily know their teens inner life.
Formal assessments include screening and diagnostic
instruments. The most commonly used comprehensive
screening measures have been developed by Achenbach
(Achenbach and McConaughy, 1997). Forms include
the Child Behavior Checklist (forms for 1.5-5 and
6-18 years), the Teacher Report Form (6-18 years), and
the Youth Self-Report (11-18 years). All are easily completed in about 15 minutes. Norms and scoring procedures are available for such scales as total, internalizing,
403
and externalizing behavior problems; withdrawn or depressed; and social problems. Child Behavior Checklist
results can be used in various ways, ranging from using
responses as the basis for further interviewing to informing referral decisions.
Other screening instruments merit consideration.
For example, the Strengths and Difficulties Questionnaire (Goodman and Scott, 1999) has psychometric
properties comparable to the Child Behavior Checklist, is short (25 items), and has multiple forms (parents
and teachers of 3- and 4- to 16-year-olds; a self-report
form for 11- to 16-year-olds). Whereas its usefulness
in the diagnosis of social withdrawal and isolation has
not been evaluated, other characteristics make it worth
considering as a screen. Still other screening measures
have a narrower focus on anxiety disorders. These include the Social Anxiety Scale for ChildrenRevised and
the Social Phobia and Anxiety Inventory for Children
(Crozier and Alden, 2001). The Social Anxiety Scale for
ChildrenRevised has subscales for Social Avoidance in
General, Social Avoidance in New Situations, and Fear
of Negative Evaluation; the Social Phobia and Anxiety
Inventory for Children examines Assertiveness/General
Conversation, Traditional Social Encounters, and Public
Performance. Finally, the Anxiety Disorders Association
of America (2007) has simple measures that screen for
anxiety disorders. There are separate forms for parents
and adolescents. If social withdrawal and isolation are
suspected, more formal assessments can be performed.
More formal interviews have been designed specifically for diagnosis, treatment planning, and outcome
evaluation. These include the Anxiety Disorders Interview Schedule for Children and the Kiddie Schedule
for Affective Disorders and SchizophreniaPresent and
Lifetime Versions (Crozier and Alden, 2001).
Summary
Assessment of behavioral disorders is a complex task.
The clinical examination and interview, careful observation, and multiple informants, especially childcare and
educational professionals, remain the mainstays of practice. When significant problems seem apparent, the clinician may pursue further observation and interviewing
along with screening measures in deciding on a course
of action. Others may opt to refer the child to a mental
health professional for further evaluation.
TREATMENT
Pediatricians can offer basic guidance in helping parents
respond to social withdrawal and isolation. If appropriate, they can be reassured that their childs behavior is not
necessarily problematic, especially if the child appears
content. They can be encouraged to accept it as within a
normal range, albeit difficult for some in a culture that
usually values assertive behavior. Parents can encourage
children to the extent that they can participate socially
in at least some settings without emotional upset. However, parents should be advised of the risks of aggressively pushing children to socialize; sensitivity and gentle
encouragement to engage in situations in which the child
could realistically experience successful interactions are
404
PREVENTION
Prevention efforts have focused on ameliorating factors
that place children at risk for social withdrawal and
isolation (Vasey and Dadds, 2001). These include child
characteristics and both proximal and distal environmental influences on development. With regard to the
child, it is worth considering genetics (the genetic basis
Table 41-4. Treatment Options for Social Withdrawal
and Isolation as a Function of Age
Infancy
Toddler-preschool
School age
Adolescence
SUMMARY
Social withdrawal and isolation are not rare. It is an issue pediatricians and other primary care clinicians may
observe or hear about from concerned parents. Children naturally manifest a broad spectrum of behavior.
An initial question is whether the social withdrawal
and isolation are within the normal range or are
causing emotional harm or impairing a childs functioning. Social withdrawal and isolation may be a relatively isolated phenomenon or part of other conditions,
such as depression, that should be considered. In addition, as illustrated by the vignette at the beginning of
this chapter, social withdrawal and isolation maylead
405
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42
ADJUSTMENT AND
ADJUSTMENT DISORDERS
Robert Needlman
Vignette
Jim, a 12-year-old boy in seventh grade, is brought to his primary care physicians office because of
fighting in school. He has been suspended twice in the last 3 months, most recently for swearing at a
teacher. Previously a B-C student, his grades are dropping because he refuses to complete homework.
He claims that school is stupid and that nobody there likes him. Although once an avid soccer player,
now, after school, he spends his afternoons in his room playing video games. He usually responds
to family members with irritation. His mother feels he is sad, although he seemed excited during
a recent trip to an amusement park. On detailed questioning, his mother realizes that Jims current
problems developed after his father lost his factory job 5 months ago, forcing the family to move to a
smaller apartment in a poorer part of town.
Cases like Jims raise a number of questions. Assuming
that his maladaptive behaviors and emotions are a response to his fathers recent job loss, how are the event
and the childs behavior actually linked? Why has this
child not been able to cope more effectively? What diagnoses does his current status suggest? How can the
clinician differentiate a temporary downswing from an
adjustment disorder from an incipient emotional disorder? What interventions are likely to help? What is the
prognosis?
This chapter discusses adjustment and adjustment
disorders. Adjustment is a broad concept dealing with
how a child responds to stress. Stress refers to internal
or external factors that challenge a childs well-being
(see Chapter 50). Coping is a concept that encompasses
responses to stress, focusing on the moment-to-moment
responses. Adjustment refers to the childs reactions to
stress over weeks and months. At this most general level,
a certain circularity is unavoidable: adjustment is an
adaptive response to stress, whereas stress is anything
that requires the child to make an adjustment. Stressors
can be physiologic in nature (i.e., illness or injury) or
psychosocial (loss and threatened loss of security, relationships, or stature). Research into the psychobiology
of stress is beginning to draw connections between the
physiologic and psychological dimensions of stress and
adjustment (Susman, 2006).
Children cope with stress every day; a child wakes up
and cannot find a clean shirt to put on; he gets teased
on the bus; he struggles on a math test; he does not get
a part in the school play. The classic childrens book
Alexander and the Terrible, Horrible, No Good, Very
Bad Day by Judith Viorst portrays the universal experience of disappointment and frustration. Children cope
in various ways. They encourage and console themselves; they seek distractions; they complain to friends
408
Examples
Nature of
stress
Child factors
Family factors
Environmental
and cultural
factors
Resilience
The converse of stress vulnerability is resilience. Like
vulnerability, resilience in children can be traced to
both psychological and social conditions. For example,
Werners longitudinal study of children growing up in
poverty on the island of Kauai found that children who
thrived tended to be physically attractive, temperamentally easy, and intelligent and also to have at least one
adult mentor (Werner, 1992). Positive child temperament
and positive social environments may have interactive as
well as additive effects. Among preschool children rated
by their teachers as temperamentally easy, externalizing
problems were infrequent, regardless of the level of family
conflict reported by parents, evidence of a protective
409
ADJUSTMENT DISORDERS
Adjustment, in the sense of psychological well-being
in the face of adversity, encompasses everything from
coping with developmentally necessary challenges to
responses to extreme trauma. In contrast to this broad
concept, the diagnosis of adjustment disorders attempts
to designate a group of psychiatric diagnoses that occupy an intermediate ground between reactions that
are merely concerning and those severe enough to merit
other major psychiatric diagnoses. Although fraught
with theoretical and practical difficulties, the diagnosis of adjustment disorders remains important for its
frequency and its association with sometimes serious
outcomes (Greenberg et al, 1995; Kovacs et al, 1995;
Newcorn and Strain, 1992; Portzky et al, 2005).
Diagnostic Challenges
As defined in the DSM-IV (American Psychiatric Association, 2000), the diagnosis of adjustment disorder requires four features: (1) emotional or behavioral
symptoms that arise within 3 months of the onset of
an identified stressor; (2) the symptoms are greater than
would be expected in response to the stressor or are severe enough to interfere with normal functioning; (3) the
symptoms do not meet the criteria for another Axis I diagnosis; and (4) the symptoms resolve within 6 months
after the cessation of the stressor. In addition, DSM-IV
excludes bereavement. The International Classification
of Diseases (ICD-10) criteria are similar, except they allow that adjustment disorders may continue for more
than 6 months after the stressor ends.
An obvious difficulty with the DSM-IV diagnosis is
that although it calls for the existence of symptoms, it
does not specify their precise nature or number. In this
respect, adjustment disorder differs significantly from
many other DSM-IV diagnoses, for example, major depression. A rough indication of the kinds of symptoms
that compose adjustment disorder is apparent from the
six subtypes: adjustment disorder with depressed mood;
adjustment disorder with anxiety; adjustment disorder
with mixed anxiety and depressed mood; adjustment
disorder with disturbance of conduct; adjustment disorder with mixed disturbance of emotions and conduct;
and adjustment disorder unspecified. Although the diagnostic guidelines do not specify particular symptoms
under each of these headings, presumably the symptoms
are similar to those included in the corresponding major
psychiatric diagnoses. This similarity raises the question
of how the adjustment disorders are differentiated from
their corresponding Axis I diagnoses. Presumably in adjustment disorder, the symptoms are fewer in number or
lesser in magnitude, because otherwise the Axis I diagnosis would supersede the diagnosis of adjustment disorder. Thus, for example, an adolescent might experience
symptoms including sadness, tearfulness, and anhedonia;
if the symptoms were sufficient to merit the diagnosis of
major depression, that would be the diagnosis, rather
than adjustment disorder with depressed mood.
Adjustment disorder can be diagnosed in addition to
an Axis I diagnosis, as long as the adjustment disorder
cannot be accounted for by the other diagnosis. For
410
example, a child with dysthymia could merit an additional diagnosis of adjustment disorder with anxiety if
the anxiety symptoms arose in response to an identified
stressor. Adjustment disorders share some characteristics with acute stress disorder and post-traumatic stress
disorder. However, in adjustment disorder, the stressors are typically less extreme, and core features of
post-traumatic stress disorder, such as nightmares and
behavioral avoidance, are absent.
By definition, adjustment disorders are time limited. When symptoms persist well beyond the original
stressor, the diagnosis must change (American Psychiatric Association, 2000). However, there is no sure way
to distinguish ahead of time between cases of adjustment disorder that are destined to resolve and those
that mark the beginning of more chronic psychiatric
conditions (Andreasen and Hoenk, 1982). Therefore, it
is unclear whether the adjustment disorder turns into
another Axis I disorder (usually with the not otherwise specified modifier) or whether the condition was
that disorder all along. Moreover, the time frame of
6months is arbitrary and constant regardless of the age
of the child.
The 6-month time limit begins after the inciting
stressor ends. If the stressor persists over time, then the
adjustment disorder can be prolonged indefinitely, becoming chronic adjustment disorder. An example of a
time-limited stressor might be the breakup of an adolescent romance; examples of persisting stressors include
a chronic medical illness such as sickle cell disease, the
multiple ongoing stresses subsumed under the heading
of poverty, and a parents chronic psychiatric illness.
Often, children are exposed to a mixture of acute and
chronic stressors that change over time, and it may be
difficult to define a precise beginning and end. The existence of apparently stress-related responses that begin
later than 3 months after the stressor and last longer
than 6 months suggests a degree of arbitrariness in the
DSM-IV timing criteria (Newcorn and Strain, 1992).
The diagnosis of adjustment disorder relies on a presumed connection between a stressor and subsequent
symptoms; however, both stressors and symptoms are
common and therefore may arise together by coincidence. In diagnosis of adjustment disorder, therefore,
special care should be taken to consider alternative
explanations, including potentially treatable medical
conditions, such as hyperthyroidism and hypothyroidism, whose symptoms can mimic those of psychological
distress. Given all of the difficulties enumerated, it is not
surprising that the reliability of the diagnosis is relatively
low compared with other DSM-IV diagnoses (Newcorn
and Strain, 1992).
411
Prognosis
The prognosis for children diagnosed with adjustment
disorder has been characterized as a glass half full.
In a 5-year follow-up of 52 adolescents, 23 (44%) were
completely well at follow-up; another 14% were well
but had had significant problems during the follow-up
interval (Andreasen and Hoenk, 1982). Among younger
children with adjustment disorder, the prognosis may
be worse, with only 26% reported completely well at
4-year follow-up. Prognosis depends on the nature of
the stressor, individual child characteristics, and family
and social supports (Kovacs et al, 1995; Lengua et al,
2000; Stuber, 1996). For example, the death of a parent
or suicide of a peer may be more likely to evoke symptoms of depression compared with receiving a diagnosis
of a serious medical illness (Kovacs et al, 1995).
In a longitudinal study of 30 psychiatrically referred
children aged 8 to 13 years with adjustment disorder,
the disorder resolved during a period of 8 to 9 months in
all cases. Many of the children also had comorbid psychiatric conditions. Compared with a matched control
group who had psychiatric disease but no adjustment
disorder, children with adjustment disorder had similar
rates of psychiatric disturbance during the 7 to 8 years
following the diagnosis of adjustment disorder. In other
words, in this group of psychiatrically involved children,
the presence of adjustment disorder did not affect the
long-term prognosis (Kovacs et al, 1994). In contrast,
in the study of children with newly diagnosed insulindependent diabetes mellitus, discussed before, about
8% of the children received psychiatric diagnoses within
5 years of the original diagnosis of insulin-dependent
diabetes mellitus. Children who developed adjustment
disorder had a much higher rate of long-term morbidity;
48% of children with adjustment disorder developed a
new psychiatric disorder within 5 years compared with
16% of children who did not have adjustment disorder
(Kovacs et al, 1995).
Newcorn and Strain (1992) reviewed immediate and
long-term responses to common stressors of loss of a
parent or sibling, divorce, and serious physical illness.
In general, variability is the rule. Many children show
initial adjustment problems, mainly symptoms of depression, anxiety, and a drop-off in school performance.
Most children recover from these early disturbances, but
many also go on to experience long-standing problems
with low self-esteem, sleep, school performance, concentration, and peer relations. The risk for development
of persisting problems is increased in children who have
preexisting problems, such as hyperactivity, anxiety,
and aggressiveness.
412
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American Psychiatric Association: Diagnostic and Statistical Manual
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American Psychiatric Association, 2000.
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A follow-up study. Am J Psychiatry 139(5):584-590, 1982.
Andreasen NC, Wasek P: Adjustment disorders in adolescents and
adults. Arch Gen Psychiatry 37(10):1166-1170, 1980.
Bauer AM, Boyce WT: Prophecies of childhood: How childrens social
environments and biological propensities affect the health of populations. Int J Behav Med 11(3):164-175, 2004.
Bauer AM, Quas JA, Boyce WT: Associations between physiological
reactivity and childrens behavior: Advantages of a multisystem
approach. J Dev Behav Pediatr 23(2):102-113, 2002.
Bird HR, Canino G, Rubio-Stipec M, et al: Estimates of the prevalence
of childhood maladjustment in a community survey in Puerto Rico.
The use of combined measures. Arch Gen Psychiatry 45(12):11201126, 1988.
Boyce WT, Barr RG, Zeltzer LK: Temperament and the psychobiology
of childhood stress. Pediatrics 90(3 pt 2):483-486, 1992.
Boyce WT, Jemerin JM: Psychobiological differences in childhood
stress response. I. Patterns of illness and susceptibility. J Dev Behav
Pediatr 11(2):86-94, 1990.
Davis JK, Wasserman E: Behavioral aspects of asthma in children.
Clin Pediatr (Phila) 31(11):678-681, 1992.
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in the context of parental problem drinking? A longitudinal
examination. J Abnorm Psychol 114(4):735-741, 2005.
Fadiman A: The Spirit Catches You and You Fall Down: A Hmong
Child, Her American Doctors, and the Collision of Two Cultures.
New York, Farrar, Straus, and Giroux, 1997.
Greenberg WM, Rosenfeld DN, Ortega EA: Adjustment disorder as
an admission diagnosis. Am J Psychiatry 152(3):459-461, 1995.
Kagan J: Temperament and the reactions to unfamiliarity. Child Dev
68(1):139-143, 1997.
Kovacs M, Feinberg TL, Paulauskas S, et al: Initial coping responses
and psychosocial characteristics of children with insulin-dependent
diabetes mellitus. J Pediatr 106(5):827-834, 1985.
Kovacs M, Gatsonis C, Pollock M, Parrone PL: A controlled
prospective study of DSM-III adjustment disorder in childhood.
Short-term prognosis and long-term predictive validity. Arch Gen
Psychiatry 51(7):535-541, 1994.
Kovacs M, Ho V, Pollock MH: Criterion and predictive validity
of the diagnosis of adjustment disorder: A prospective study of
youths with new-onset insulin-dependent diabetes mellitus. Am J
Psychiatry 152(4):523-528, 1995.
Lengua LJ, Wolchik SA, Sandler IN, West SG: The additive and
interactive effects of parenting and temperament in predicting
adjustment problems of children of divorce. J Clin Child Psychol
29(2):232-244, 2000.
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clinical, and research issues. Psychiatr Clin North Am 18(3):433448, 1995.
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Pelkonen M, Marttunen M, Henriksson M, Lonnqvist J: Suicidality in adjustment disorderclinical characteristics of adolescent
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413
43
SEXUALITY: ITS
DEVELOPMENT
AND DIRECTION
Jennifer B. Hillman and
Michael G. Spigarelli
Vignette
Jodi is a 9-year-old girl who presents to the primary care provider with a chief complaint of a
hormonal problem. Jodis parents are concerned because they think she is acting like a boy. They
are searching for a medical explanation and a fix for her behavior. They recall that as an infant, she
used to touch herself down there during diaper changes. As a preschooler, she used to straddle
the couch and rub herself, leading them to scold and punish her repeatedly to stop this obscene
behavior. When she was younger, she preferred to play with her brothers trucks, trains, or balls over
baby dolls. They also caught her playing doctor with friends from school on several occasions.
More recently, they have noticed she likes to play soccer, football, and video games with the boys
in the neighborhood. She has even started to dress like a boy with baseball hats, sports T-shirts,
tennis shoes, and baggy jeans. Jodis father is really concerned that she has some kind of hormonal
imbalance that makes her act like a boy. He remembers his sister acting in a similar way and she
grew up to be a spinster. Her mother thinks Jodi has taken being a tomboy to an extreme. They
are asking for testing, a diagnosis, and treatment.
416
Infancy
The prenatal and infancy period has a large impact on the
development of human sexuality. By the time of birth,
gender has been determined, and familial and cultural
ideas about the childs gender begin to be expressed.
Gender roles in infancy are largely being determined for
the children by parents, caretakers, and family members.
For example, a female infants parents may choose to
dress their daughter only in pink clothing. Conversely,
parents may dress their male and female twins in the
same clothing regardless of the childs gender. There is
no intrinsically correct way to dress a male or female
infant. In addition, there are no studies showing that
Sexual Behaviors
Adolescence
417
School-Age Children
Sigmund Freud termed the period between 6 and
11years the latency period because of his belief that
innate sexual wishes are thought to be relatively quiet.
School-age children are typically involved in same-sex
relationships, and playgroups tend to include children
of the same gender. However, researchers have found
that self-stimulation still occurs in both male and female
children. It appears that rather than being latent, as Freud
suggested, at this stage of development, these behaviors
exist but have become more private and discrete, which
in part explains the need for privacy while dressing and
bathing. In addition, children are increasingly interested
in what it means to be male or female as well as their
gender role and identity.
School-age children are beginning the process of ac
quiring a foundation on which they will build in the
years ahead for many domains, including sexuality.
Therefore, it is increasingly important for parents to
have ongoing discussions about sexuality and touching.
School-age children should know the difference between
appropriate and inappropriate touch. They should also
be able to talk about their body parts without feeling
embarrassed or believing they are either naughty or
dirty. Open discussion about sexual issues, beginning
early in a childs life, sets the stage for future communi
cation, which will become particularly important during
the teen years.
The early stages of puberty may be seen in schoolage children. For girls, breast development may begin
as early as the age of 8 years; the average age of the
larche is approximately 11 years. The onset of puberty
in boys is, on average, later than in girls; the first sign,
testicular enlargement, occurs on average around 11.5
years of age. Testicular enlargement may begin as early
at 9.5 years (Marshall and Tanner, 1969). Discussions
between parents and pediatricians, and parents and chil
dren, about the timing and progression of puberty are
418
Pre-Teens
The majority of pre-teens have entered puberty. Nearly
half of pre-teen girls have reached menarche. Along with
menarche may come associated problems: menstrual
cramps, menstrual migraines, unpredictable bleeding,
nausea, and abdominal bloating. Pre-teen boys may
experience nocturnal emissions or wet dreams. These
changes are all part of normal sexual and pubertal
development.
Pre-teens should understand what sexual intercourse
entails. Both boys and girls should be provided infor
mation and knowledge about how sexually transmitted
infections are acquired and prevented. Both boys and
girls should have knowledge about how pregnancy can
be achieved and prevented. In addition, they should
have a clear understanding of what constitutes sexual
abuse. Although most public and parochial school sys
tems have organized sexual education programs, the
curriculum varies considerably. Parents and physicians
should assess the pre-adolescents knowledge of sexu
ality and related issues. It is during these years that a
portion of every physician office visit should be set aside
for a private discussion between pre-teen and provider.
This fosters the development of a positive relationship
between patient and provider while sending the clear
message that children deserve the respect to be allowed
to discuss personal and potentially embarrassing issues
with their health care provider.
Adolescence
The teenage years are a period of transition, both men
tally and physically, from childhood into adulthood.
Although neither the natural history nor the precise
origin of sexual orientation is fully understood, it is
thought that sexual orientation is established by the
conclusion of childhood. It is during adolescence that
this awareness of sexual identity leads to the further
exploration of sexual orientation. These aspects of sex
uality may be very evident to some teenagers, their par
ents, and their health care providers. For others, there
may be only a glimpse of insight into these issues, and
the extent of these changes will be experienced only in
adulthood. It is common for adolescents to experiment
with their sexual identity and sexual relationships. Ret
rospective questionnaires reveal that a fair number of
homosexual adults reported having had relationships
about
Jodi at the beginning of the chapter
illustrates several typical sexual behaviors at different
stages of Jodis development. All of Jodis behaviors
are normal expressions of sexuality that parents may or
may not notice during a childs development. Touch
ing of ones genitals, masturbation, choice of toys, and
Vignette
At 5 months of age, Cindy was first noted to have
episodes of stiffening of her body and arching of
her back alternating with moaning and groaning.
These episodes lasted anywhere from 5 to 20 minutes
and occurred nearly every day, with more episodes
happening when Cindy was particularly tired.
Sometimes her face reddened and she appeared dazed.
As she grew older, the spells tended to increase in
frequency and duration. When she was nearly 2 years
old, her parents sought evaluation by a pediatric
neurologist for epilepsy. Careful dissection of the
history revealed that Cindy was responsive during the
episodes, sometimes able to carry on conversations
while rocking and stiffening rhythmically. In addition,
home videotaping of the episodes revealed rhythmic
pelvic rocking and flexion throughout episodes,
distractibility and extinction of the behavior by
parental interruptions, facial flushing, and diaphoresis.
The word masturbation is derived from the Latin manus, meaning hand, and stupratio, meaning defile
ment (Nechay et al, 2004). This historically suggests
that this practice was considered impure. The modern
meaning of the term implies stimulation of the genitals
often resulting in orgasm (Leung and Robson, 1993).
Currently, masturbation is generally accepted as a
normal part of human sexuality and development. This
behavior can be referred to as gratification behavior,
gratification disorder, infantile masturbation, and selfstimulation behavior.
Although Still described masturbation in infants and
children in the 1900s (1909), the true incidence and on
set of this behavior are not known. Leung and Robson
(1993) report gratification behavior typically beginning
at 2 months, with a peak at 4 years of age. Meizner
(1987) observed in utero masturbation by ultrasound
examination. Estimates on the frequency of masturba
tion are fraught with uncertainty, particularly given the
nearly universal belief by parents that their child would
never masturbate. In that light, a lower bound preva
lence estimate of masturbation at some time in life was
estimated to be 90% of boys and 50% to 60% of girls
(Leung and Robson, 1993).
419
420
Case Resolution
The vignette demonstrates that masturbation can in
volve much more than overt stimulation of the genitals.
It can be a full-body experience that includes elevation
of the heart rate, sweating, and vocalizations. Often,
masturbation may be thought to represent seizures,
apneic events, or behavior problems. Observation of
the child either directly or with the use of videotape can
help clinicians and parents determine the pattern and
source of the episodes. Masturbation itself should be
considered a normal and appropriate part of all stages
of development. Rather than trying to avoid discussions
or to suppress the behavior, a more open and informed
discussion will benefit caregivers, medical providers,
and, most important, the child in question.
Vignette
Stacey is a 17-year-old girl who presents to her
primary care providers office for her annual soccer
physical. She is an outstanding athlete, with college
aspiration and the interest of various recruiters who
are impressed with her academic and athletic abilities.
When her mother is asked to leave the room for a brief
confidential discussion, her mother states emphatically,
Dont worry, we are best friends and she tells me
everything. Her mother announces that she is not
having sex as she leaves the room. In private, Stacey
confides in you that she has been sexually active
(vaginal intercourse) with her boyfriend for the past
6 months and that they use condoms when they can
buy them privately and without embarrassment, but
that can be difficult. She notes that she was extremely
worried 2 months ago when her period was late, so
worried that she failed her first examination in AP
English. Her period did come; she and her boyfriend
were still worried, so they tried a few home pregnancy
tests, which were all negative, prompting them to agree
not to have sex again. This pledge lasted less than
1week, and at present she is concerned because she is
due to have a period in the next few days.
Summary
Staceys case illustrates a typical adolescent presenting
for a sports physical. The key is to provide time to con
fidentially ask about sexuality and sexual experiences.
Once you are aware of the adolescents sexual debut or
pending debut, you have the opportunity to counsel her
about contraception, sexually transmitted infections,
and other risk factors. As she has placed trust in you
by providing this information, she is seeking help, guid
ance, and testing or treatment. Given her current con
cerns about pregnancy, a urine pregnancy test should
be performed in the office, with the results provided as
rapidly as possible, as she will likely not fully hear any
thing you have to offer until she knows the results. Once
the pregnancy test results are obtained, the urine can be
sent for STD screening.
This very typical scenario brings up many preventive
medicine topics, including STD screening, pregnancy
prevention, risk behavior identification, and reassur
ance that you are there to provide. If you are unwilling
to provide these services, she deserves to be referred to
a provider who is comfortable providing these services.
A brief discussion about relationship safety and healthy
sexuality is also very helpful for the adolescents devel
oping sexuality. Most offices providing care for adoles
cents have free condoms available for distribution, and
we recommend this. Regarding the adolescents mother
and the confidentiality of the adolescent, we always
encourage adolescents to have ongoing discussions and
openness with their parent or guardian about sex and
relationships. If the adolescent refuses to discuss sexual
relationships with a parent, it is critical to maintain
confidentiality and to provide ongoing support for the
adolescent.
421
Vignette
Juan, a 9-year-old boy, is brought in by his parents
because they are very concerned that he likes to dress
up in female clothing. It is not unusual for Juan
to be found dressed up in his mothers gowns and
high-heeled shoes. His mother and father have been
uncomfortable with his behavior for years. His mother
recalls that when Juan was 3 years old, he liked to play
with typical girls toys like dolls and dress-up clothes.
More recently, he is involved in skateboarding but also
takes dance classes, although his parents have refused
his request to sign up for ballet and tap classes. Juan
denies any desire to be or to become a girl, and he
typically hangs out with male friends. He is unsure
of sexual attraction or orientation but plans to marry
and have children someday.
422
Table 43-3. Special Considerations for NonHeterosexual (Gay, Lesbian, or Bisexual) Adolescents
Refer adolescents if you have personal barriers to providing
appropriate care.
Assure the patient that his or her confidentiality will be protected.
Help the adolescent work through his or her feelings. Be hesitant
to define sexual orientation at this age on the basis of same-sex
feelings and sexual experiences.
Identify risky behaviors (e.g., unprotected sexual intercourse,
substance abuse).
Ask about mental health and refer if necessary.
Offer support and advice for adolescents in dealing with potential
conflict with family and friends.
Encourage transition to adult care when appropriate.
Adapted with permission from Frankowski BL: Sexual orientation and
adolescents. Pediatrics 113:1827, 2004.
Vignette
Molly is nearly 25 years old and has cerebral palsy.
She only recently made her first appointment with
an adult primary care physician. She has delayed
transitioning her care for as long as possible because
she has felt so connected to her pediatrician. This time,
423
424
SUMMARY
Sexuality is an intrinsically necessary and normal com
ponent of human development with an understandable
direction to the path it takes in every individual. As
normal as sexuality and sexual development is, the dis
cussion or even mere acknowledgement of its existence
remains exceedingly uncommon in public and medical
realms. As care providers, we have the obligation to
promote healthy development and reduction in predict
able risks for each and every one of our patients. Cer
tainly, sexuality can be an extremely sensitive subject of
discussion with children and adolescents for both par
ents and care providers. This initial sensitivity can be re
duced with adequate factual knowledge, openness, and
a desire to provide the best care possible. The discussion
of sexuality is not and should not be seen as an isolated
question or series of questions but rather as a process.
This process, when it is done well, is done continuously
throughout development with the necessary provision
of privacy between medical care provider and child or
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Cotton S, Mills L, Succop PA, et al: Adolescent girls perception of
the timing of their sexual initiation: Too young or just right.
J Adolesc Health 34:453-458, 2004.
Couper RT, Huynh H: Female masturbation masquerading as abdom
inal pain. J Paediatr Child Health 38:199, 2002.
Crosse SB, Kaye E, Ratnofsky AC: Report on the Maltreatment of
Children with Disabilities. Washington, DC, National Center on
Child Abuse and Neglect, Administration for Children and Fami
lies, U.S. Department of Health and Human Services, 1993.
Davies SL, Glaser D, Kossoff R: Childrens sexual play and behavior
in preschool settings: Staffs perceptions, reports, and responses.
Child Abuse Neglect 24:1329, 2000.
Duncan P, Dixon BA, Carlson J: Childhood and adolescent sexuality.
Pediatr Clin North Am 50:765, 2003.
Earl DT, Blackwelder RB: Management of chronic medical conditions
in children and adolescents. Prim Care 25:253, 1998.
Elias ER, Sadeghi-Nejad A: Precocious puberty in girls with myelodys
plasia. Pediatrics 93:521, 1994.
425
Section
44
SELF-CONCEPT
Vignette
The Brilliant but Unmotivated Child
Vignette
The Talented but Low-Confidence Child
427
428
Vignette
The Promising Child Who Failed
DEFINITIONS
Self-concept refers to beliefs children have about themselves. In this chapter, we focus on childrens beliefs
about whether their talents and abilities are fixed or can
be developed. Self-esteem refers to childrens feelings
about themselveswhether they feel good about their
competencies and feel that they are worthy people. We
will see that some self-concepts make it easier for children to feel good about themselves and to maintain these
feelings even in the face of setbacks. One measure of selfesteem is how children speak about themselves. However, more important, we can infer that a child has high
self-esteem when she or he is actively engaged in activities, is eager for challenges, and demonstrates resilience
in the face of setbacks. We infer that children have low
self-esteem when, regardless of whether they declare that
they are bright or capable, they are reluctant to try new
activities or withdraw after failure and disappointment.
These indices of self-esteemmotivation, confidence,
and willingness to continue after setbacksmay be at
odds with what children declare about themselves. In addition, they may not be consistent across all domains of
functioning but rather may differ within a child as we
consider that childs behavior during academic pursuits,
athletic competitions, musical performances, or social
encounters.
Chapter 44 Self-Concept
429
430
Person Praise
Appreciation of effort
Understanding what the child did to achieve success
Clarity on why a performance was noteworthy
Appreciation of talent
Attributing success to a childs innate abilities
General praise of the performance and child
SELF-CONCEPT
Childrens beliefs about intelligence and talent form the
basis for much of their motivation (Aronson et al, 2002;
Butler, 2000; Cury et al, 2006; Dweck, 1999, 2006;
Dweck and Leggett, 1988; Ommundsen, 2003; Robins
and Pals, 2002; Trzesniewski and Robins, 2003). That
is why person and process praise and criticism are so
powerfulthey tell children not only about what adults
value but also about the very nature of intelligence and
other types of talent.
Children and adults can think of their intelligence (or
any personal attribute) as a fixed traityou only have
a certain amount and thats that. We call this an entity theory of intelligence because, here, intelligence is
conceived of as a fixed thing. We have also called this
a fixed mindset, and we use this term here for simplicity. Alternatively, children and adults can think of their
intelligence as a quality that can be developed over time
through their efforts. We have called this an incremental theory of intelligence because, here, intelligence is
conceived of as something that can be increased. We
have also called this a growth mindset, and we will do
so here.
Alfred Binet, the inventor of the IQ test, had a radical growth mindset (Binet, 1909/1973). He believed that
childrens basic capacity to learn could be transformed
through education, and he spent most of his career devising educational programs that would accomplish just
this (Siegler, 1992). An increasing number of psychologists are pointing out the malleable nature of important
parts of intelligence, and neuroscientists are finding that
the brain remains more plastic as we age than was previously believed (see Chapter 8).
These mindsets are an important part of childrens
self-concepts. Children who believe in fixed intelligence
are more vulnerable than those who believe in expandable intelligence (see Dweck, 1999). In fact, many of the
harmful effects of person praise may come from the fact
that it communicates to children that intelligence is a
stable underlying trait that can be read from their performance (Mueller and Dweck, 1998). Many of the beneficial
effects of process praise may come from the fact that it
suggests that intellectual competence can be enhanced
through hard work. Let us see how this works.
First, children who believe that intelligence is fixed
are chronically worried about how smart they are. If
they have only a certain amount of this precious attribute, then they need to believe that they have a noteworthy amount. Many studies have shown that students
with a fixed mindset will pass up opportunities to learn
important new things when there is a risk of making
errors or exposing deficiencies (Blackwell et al, 2007;
Chapter 44 Self-Concept
431
Growth Mindset
Fixed Mindset
Effort, practice
Intelligence, talent
Hard work
Innate ability
Yes, please
432
Clinical Implications
Let us return to the idea that parents feedback sends
messages and go back to the three children from the beginning of the chapter. We should now have a better
Chapter 44 Self-Concept
idea of how pediatricians should tell their parents to respond to them and why.
First, let us revisit Allen, the brilliant 13-year-old who
retired from hard work at school, all the while touting
his superior intellect. Many parents would respond to
this situation by reassuring Allen of his exceptional intelligence and agreeing with him that he was smarter
than his fellow students. They would see this as boosting his confidence and motivating him to work harder
in school. They might also try to monitor him better,
checking up on his homework and urging him to study
before upcoming tests. They might deprive him of privileges until his homework was finished or until he put in
a respectable amount of study time.
However, given what we know now, this hardly seems
like the best course of action. Allen was most likely in a
fixed mindset. His prodigy status was his claim to fame,
something that made him special, better than others,
and made his parents proud. Now, however, he entered
a school with lots of smart students, and the work was
hard enough that he could not just coast along on sheer
brains as he could before. He was frightened. What if
he was someone who had to work hard for accomplishments like the ordinary kids? Would he lose his special
status and the respect and love of his parents?
His parents insistence on his brilliance would simply play into these fears. Instead, his parents need to
change his (and their) thinking, putting the emphasis
on learning and skill development rather than on innate
brilliance. They need to communicate that true genius
and great contributions come from hard work and that
even Thomas Edison, Mozart, Darwin, the Curies, and
Cezanne all put in many years of obsessive labor before
they made their great contributions. Actually, there are
virtually no examples of great contributions without
great effort. At the same time, the parents need to put
this philosophy into action, praising real effort, challenge seeking, and commitment when they see it and
not praising easy As or effortless success. They need to
convey that simply doing things that come quickly and
easily is meaningless.
In the same vein, the parents of Janie, the winner of
the art contest, are in danger of falling into the praisefor-talent trap. Their daughters shaky confidence followed by her huge success might present an irresistible
opportunity to assure her of her talent. Instead, they
need to use the occasion to emphasize how her love of
art, hard work, perseverance, and courage had paid off.
There may also be hard periods ahead if Janie gets into
the big-time art world, in which many talented people vie
for success. A fixed mindset, with its fragile confidence
and defensive reactions, will not serve her well. Instead,
that emphasis on hard work, perseverance, and courage
is what will more likely see her through.
What about Elizabeth, the aspiring gymnast whose
early hopes were crushed at her first meet? Telling her
that they thought she was the best is telling her a lie.
It will undermine their credibility, such that they will
not be reliable sources of feedback for her in the future.
Telling her she was robbed of a ribbon is teaching her
to be a poor sport when she loses. Telling her that gymnastics is not important teaches her to devalue activities
433
after a setback. Telling her that her ability will bring her
success next time is telling her that inherent ability is
the only factor that mattersbut if it did not bring her
success this time, why should it bring her success next
time? Telling her she did not yet deserve to win may
seem harsh, but put in a more caring way, it is true and
it is helpful. Elizabeths parents can point out that she
is a relative newcomer and that there were many girls
in the competition who had worked longer and harder
than she had. She could do gymnastics, if she wanted,
just for fun, but if she also wanted to win in the future, she would have to put in a lot of time and effort
to develop her skills. Rather than filling their child with
defensive rationalizations, they will be giving her a plan
for future success.
Mindsets also operate in the social realm. Children
who believe their social skills can be developed fare better in the face of social setbacks and rejections. They are
more likely to remain positive about themselves and are
less likely to respond defensively to a rejection (Erdley
et al, 1997). Parents can help their children to navigate
the complex social world by helping them develop an
openness to learning in this arena as well.
434
Convey that
Abilities can be developed.
Effort and learning make the brain grow stronger.
Success is about progress, not easy perfection.
SUMMARY
Although much remains to be discovered about how best
to nurture a childs self-concept, researchers have begun
to replace conventional wisdom with empiric evidence.
This chapter has presented some of that evidence that
leads to the recommendations summarized in Table 44-3.
Praising childrens effort rather than their intelligence
or talents and teaching children that abilities can be developed can unlock their motivation to learn and foster
resilience in the face of obstacles. These methods shape
a positive and adaptive self-concept, allow children to
maintain their self-esteem, and help them develop their
abilities to the fullest.
REFERENCES
Aronson J, Fried C, Good C: Reducing the effects of stereotype threat
on African American college students by shaping theories of
intelligence. J Exp Soc Psychol 38:113-125, 2002.
Binet A: Les ides modernes sur les enfants [Modern Ideas on Children].
Paris, Flamarion, 1909/1973.
Chapter 44 Self-Concept
Rhodewalt F: Conceptions of ability, achievement goals, and individual
differences in self-handicapping behavior: On the application of
implicit theories. J Personality 62:67-85, 1994.
Robins RW, Pals JL: Implicit self-theories in the academic domain:
Implications for goal orientation, attributions, affect, and selfesteem change. Self Identity 1:313-336, 2002.
Sarrazin P, Biddle S, Famose JP, et al: Goal orientation and conceptions
of the nature of sport ability in children: A social cognitive
approach. Br J Soc Psychol 35:399-414, 1996.
Siegler RS: The other Alfred Binet. Dev Psychol 28:179-190, 1992.
Steele CM, Aronson J: Stereotype threat and the intellectual test
performance of African-Americans. J Pers Soc Psychol 68:797811, 1995.
435
45
ADOLESCENT DEVELOPMENT
Adolescence describes the psychosocial changes that
occur as individuals leave childhood and develop into
independent, contributing members of adult society.
To accomplish this, a number of behavioral strategies
may be employed, including experimentation, explora
tion, risk taking, limit testing, and questioning of es
tablished rules and authority. Whereas these strategies
are often functional, they can lead to serious injury
and illness when they are combined with alcohol or
drug use. Simple warnings about risks associated with
substance use may be insufficient. All too often, warn
ings elicit the classic response Dont worry, that can
never happen to me. On the more positive side, re
search has shown that adolescence is not a tumultuous
period of emotional lability and suicidality (Offer and
Schonert-Reichl, 1992). In fact, it is a very positive pe
riod when interpersonal relationships are transformed
and new cognitive abilities emerge. In social relation
ships, there is movement from predominant family in
fluence (preconformist), to peer influence (conformist),
to independent thinking (postconformist) (Petersen and
Leffert, 1995). Cognitively, the development of formal
operations leads to the ability to think in the abstract
(Piaget and Inhelder, 1958). Propositional logic, that
438
EPIDEMIOLOGY
According to the Monitoring the Future study, three of
every four students have begun to drink by the end of
high school, half have gotten drunk at least once, half
have tried an illicit drug, and one in four has tried an
illicit drug other than marijuana (Johnston et al, 2006).
Rises in usage of specific drugs can be predicted by two
factors: an increase in the perceived availability of the
drug and a decrease in the perceived risk of harm associ
ated with use of the drug. Misuse of alcohol and drugs
is found among all demographic subgroups, with higher
risk of drinking associated with being male, white, and
from middle to upper socioeconomic status families.
Usage among Latino adolescents has been increasing
during recent years. Compared with previous years, the
2005 Monitoring the Future data also indicate that illicit
drug use is declining slightly, but misuse of prescription
drugs (including narcotic analgesics, stimulants, and
tranquilizers) is rising (Johnston et al, 2006).
Tobacco
Positive developments regarding tobacco use in recent
years include decreased acceptability of cigarette smok
ing in public places and a widespread perception that to
bacco use is hazardous to health. There has also been an
increase in the number of laws restricting tobacco use and
better enforcement of laws prohibiting sale of tobacco
products to minors. Despite these advances, prevalence
of tobacco use among high-school students has remained
essentially unchanged, with nearly a quarter (23%) of
high-school seniors reporting current smoking (Johnston
et al, 2006). This makes cigarettes the drug most com
monly used on a daily basis among high-school students.
Some consider tobacco to be a gateway drug for youth,
and cigarette smokers are more likely to be heavy drink
ers and to use illicit drugs (Epps et al, 1995).
Alcohol
The majority of adolescents report drinking (Eaton et al,
2006). The average first-time drinker is 12 to 13 years
old. The prevalence of binge drinking, defined as having
five or more drinks in a row, is reported at 25% among
ninth to twelfth graders in the United States (Eaton et al,
2006). Whereas heavy episodic drinking is slightly more
prevalent among boys than among girls, in recent years
girls have been catching up. Drinking often occurs in
cars or at parties from which young people drive home.
Accidents are the leading cause of death among young
people in the United States, and 39% of motor vehicle
fatalities are alcohol related (National Highway Traffic
Safety Administration, 2006). Although most teenag
ers report they are aware that driving after drinking is
dangerous, 28.5% have accepted a ride during the past
30 days from a driver who had been drinking, and al
most half of the students who drink have taken this risk
(Eaton et al, 2006).
Illicit Drugs
Half of twelfth graders have tried some kind of illicit
drug. The most commonly used substances are mari
juana, volatile inhalants, amphetamines, and narcotics
Prescription Drugs
Medications that have clinical utility in some situations,
such as the opioids, anxiolytics, and psychostimulants,
also have potential for abuse and dependence. Among
high-school seniors, lifetime misuse of opioid analge
sics (e.g., oxycodone, hydrocodone) is 12.8%; sedatives
(barbiturates), 10.5%; tranquilizers (e.g., clonazepam),
9.9%; and amphetamines (e.g., Dexedrine, mixed salt
amphetamine), 13.1%. During the past 2 decades, an
increase in the number of children being treated with
stimulant medications (Safer et al, 1996) has been as
sociated with an increase in the diversion, sale, and
abuse of stimulants. Methylphenidate spansules can
be ground up and then self-administered by nasal in
sufflation (snorting) or injection. Like cocaine, this
can potentially lead to sudden cardiac arrhythmia
and death. Many youth misuse stimulant medications
as study pills rather than to get high (Wilens et al,
2006). Children with attention-deficit/hyperactivity dis
order (ADHD) are at increased risk for development of
substance use disorders as they become adolescents and
adults. However, appropriate treatment of ADHD with
stimulant medications appears to be protective (Wilens
et al, 2003). Because there is significant co-occurrence of
ADHD and substance abuse, clinicians should regularly
assess patients with ADHD for substance use and rec
ommend adult supervision of stimulant medication stor
age and administration when treating high-risk youth.
Because some teenagers consider drug use cool and
appealing, over-the-counter stimulant medications (e.g.,
stay-awake pills or diet pills) may also be misused.
RISK FACTORS
Genetic, familial, social, environmental, and character
ologic factors have been found to influence the devel
opment and manifestation of substance use problems.
Genetic predictors, found in both twin and adoption
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
ASSOCIATED PROBLEMS
Significant comorbidity exists between substance abuse
and depression, bipolar disorder, ADHD, and antisocial
behavior disorders (Bukstein et al, 1989). The use of al
cohol and drugs is also associated with violence, weapon
carrying, truancy, juvenile delinquency, and early sexual
experimentation (DuRant et al, 1997, 1999). This last
DEVELOPMENTAL
VARIATIONS
439
STAGES OF USE
According to the Diagnostic and Statistical Manual for
Primary Care, Child and Adolescent Version (DSMPC), substance use occurs on a continuum from the
developmental variation of experimentation, through
substance use problems, to the disorders of abuse and
dependence (Wolraich et al, 1996). A developmental
model of substance use progression is described here
and illustrated in Figure 45-1.
Abstinence is the stage at which adolescents have
not yet begun to use any psychoactive substances. An
initial trial of tobacco, alcohol, or other drugs defines
the stage of experimental use. It is characterized by use
of substances that are usually obtained from and used
with friends. At this stage, intoxicants produce a mild
euphoria with a return to baseline mood and feeling.
The teenager thus experiences a good feeling without se
rious adverse consequences. However, experimentation
can still be a hazardous activity for teens. They have
insufficient experience to know their own limits or safe
doses of alcohol and drugs. Urged on by their peers,
they may rapidly consume toxic quantities without real
izing the potential danger. They may put themselves and
others at risk by participating in hazardous activities
like operation of a motor vehicle.
Nonproblematic use is characterized by the intermit
tent, continuing use of alcohol or drugs in the absence
of negative consequences. In adult drinkers, this may be
referred to as social drinking. This term is misleading if
Abstinence
Primary Secondary
DISORDERS
Experimental
use
Dependence
(Loss of control,
tolerance, withdrawal)
Nonproblematic
use
Abuse
(Continued use
despite harm)
Problematic use
(Adverse
consequences)
PROBLEM
STAGE
440
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
C
Have you ever ridden in a CAR driven by someone (including yourself) who
was high or had been using alcohol or drugs?
Do you use alcohol or drugs to RELAX, change your mood, feel better about
yourself, or fit in?
Do you ever use alcohol or drugs while you are by yourself ALONE?
Do your FAMILY or FRIENDS ever tell you that you should cut down on your
drinking or drug use?
Do you ever FORGET things you did while using alcohol or drugs?
Have you ever gotten into TROUBLE while you were using alcohol or
drugs?
441
Figure 45-2. CRAFFT questions. Two or more yes answers suggest a serious problem. (Reprinted with permission, Childrens Hospital Boston,
2007. All rights reserved. From Knight J, Shrier L, Bravender T, et al: A new brief screen for adolescent substance abuse. Arch Pediatr Adolesc
Med 153:591-596, 1999; Knight JR, Sherritt L, Shrier LA, et al: Validity of the CRAFFT substance abuse screening test among adolescent clinic
patients. Arch Pediatr Adolesc Med 156:607-614, 2002.)
442
Intoxication
Withdrawal
Names and
Preparations
Alcohol
Treatment
Treatment
Beer
Wine
Hard liquor
Physical restraint
Low-dose benzodiazepine
(lorazepam, 1-5 mg PO as
needed) or haloperidol, 1-5 mg
q4-8h IM or 1-15 mg/dose PO
Miscellaneous information: Alcohol is highly addictive, and withdrawal from it is associated with serious, potentially lethal side effects that begin 6 to 24 hours after the last drink. Alcohol
dependence is rare in adolescents, however, but alcohol-related deaths are not. Adolescents tend to be binge drinkers and are at high risk for alcohol-related accidents and acute alcohol poisoning.
Cannabis
Marijuana
Pot, herb, grass, weed,
reefer, dope, buds,
sinsemilla, Thai
sticks
THC capsules
Hashish
Hashish oil
Discontinuation of use,
Chronic users: mild irritability,
Reassurance
symptomatic treatment and care
agitation, insomnia,
Symptoms disappear in 3-4 days
(bronchodilators for
electroencephalographic changes
wheezing)
Pathologic: panic, delirium, psychosis,
Psychosis: neuroleptic
flashbacks
medication
Miscellaneous information: Cannabis derivatives have low potential for causing physiologic withdrawal symptoms. These drugs are commonly used by adolescents, however, and are associated
with adverse psychological effects, including tolerance and withdrawal. The potency of marijuana has greatly increased during the past 25 years.
Hallucinogens
Reassurance
Inhalants
Nitrous oxide
Laughing gas, whippets
Amyl nitrite
Poppers, snappers
Butyl nitrate
Rush, bullet, climax
Chlorohydrocarbons
Aerosol spray cans
Hydrocarbons
Gasoline, glue, solvents,
white-out (typewriter
correction fluid)
Stimulants
Cocaine
Coke, snow, flake, blow,
nose candy
Crack
Freebase, rocks
Amphetamines
Speed, black beauties
Reassurance and
observation
Symptomatic care
Agitation: high-dose benzodi
azepines (diazepam, 10-25 mg)
Tachycardia, hypertension
(controversial; see below)
Hyperthermia: external cooling
(Continued)
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
443
444
Intoxication
Names and
Preparations
Methamphetamine
Crank, crystal meth, ice
Methylphenidate (Ritalin)
Pemoline (Cylert)
Prescription diet pills
Didrex, Tenuate,
Ionamin, Sanorex,
and others
Legal speed: over-
the-counter diet or
stay-awake pills
Treatment
Discontinuation of use,
symptomatic treatment and care
Psychosis: neuroleptic medication
Withdrawal
Signs and Symptoms
Treatment
Resuscitation,
hospitalization
Hypertensive crisis: beta-blockers,
phentolamine, nitroprusside
Seizures: IV lorazepam (see alcohol
section above) or phenytoin,
15-20 mg/kg slow IV push with
cardiac monitor
Miscellaneous information: Whereas use of cocaine and crack has declined somewhat in recent years, amphetamines have become more popular. Methamphetamine is more commonly available
in California, the West, and the Southwest. With the increased public awareness of ADHD and the popularity of stimulant medications to treat it, Ritalin has now become a drug of abuse
among some adolescents. It can be ground up and snorted and has been implicated in several reports of sudden cardiac arrest and death. So-called legal speed, over-the-counter preparations
that are available in pharmacies and through mail order houses, can cause toxic effects similar to those of more potent stimulants when taken in high doses.
Depressants
Benzodiazepines
Valium, Vs,
Librium, Serax,
Klonopin, Tranxene,
Xanax, Halcion,
Rohypnol, ruffies
Barbiturates
Nembutal,
Seconal, Amytal,
Tuinal, downers, barbs, blue
devils, red devils,
yellows, yellow jackets
Methaqualone
Quaaludes, ludes, sopors
Narcotics
Heroin
Smack, horse, junk, brown
sugar, big H, mud
Opium
Prescription narcotics
Morphine, meperidine
fentanyl, oxycodone
(OxyContin, OCs),
hydrocodone (Vicodin),
codeine, propoxyphene
(Darvon), and others
Designer Drugs
Fentanyl analogues
Similar to narcotics (above)
Similar to narcotics (above)
Similar to narcotics (above)
Similar to narcotics (above)
Synthetic heroin, China
White
Meperidine analogues
MPPP, MPTP
Amphetamine analogues
Similar to amphetamines (above)
Similar to amphetamines (above)
Similar to amphetamines (above)
Similar to amphetamines (above)
MDMA, Ecstasy, Adam,
EVE, STP, PMA, TMA,
DOM, DOB, and others
Miscellaneous information: More popular on the West Coast, designer drugs can be both stronger and cheaper than the parent compound. Quality is not controlled during illicit manufacturing,
posing great danger to users. For example, MPTP, a contaminant of the meperidine analogue MPPP, causes irreversible Parkinson disease.
ADHD, attention-deficit/hyperactivity disorder; DEA, Drug Enforcement Administration; ETT, via endotracheal tube; ICU, intensive care unit; SC, subcutaneous injection; THC, tetrahydrocannibinol.
References:
Barone MA (ed): The Harriet Lane Handbook, 14th ed. St. Louis, Mosby, 1996.
Chang G, Kosten TR: Emergency management of acute drug intoxication. In Lowinson JH, Ruiz P, Millman RB (eds): Substance Abuse: A Comprehensive Textbook. Baltimore, Williams & Wilkins, 1992.
Schonberg SK (ed): Guidelines for the Treatment of Alcohol- and Other Drug-Abusing Adolescents. Treatment Improvement Protocol Series 4. Rockville, MD, U.S. Department of Health and Human Services, Public Health
Service, Substance Abuse and Mental Health Services Administration, Center for Substance Abuse Treatment, 1993. DHHS publication 93-2010.
Wesson D (ed): Detoxification from Alcohol and Other Drugs. Treatment Improvement Protocol Series 19. Rockville, MD, U.S. Department of Health and Human Services, Public Health Service, Substance Abuse and Mental
Health Services Administration, Center for Substance Abuse Treatment, 1995. DHHS publication (SMA) 95-3046.
Acknowledgment: Michael Shannon, MD, MPH (Toxicology Program), and Brigid Vaughan, MD (Department of Psychiatry), at Childrens Hospital, Boston, assisted with preparation of this table.
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
Acute detoxification:
Methadone (PO)
Children: 0.7 mg/kg/day
q4-6h
Adult: 30-40 mg/day in 3-4
Discontinuation of use, targeted
Chronic users: restlessness, lacrimation,
divided doses, with 5 mg/day
medical care for infectious
yawning, pupillary dilation,
taper
complications
rhinorrhea, sniffing, sneezing,
Clonidine (PO)
sweating, flushing, tachycardia,
Children: 5-7 g/kg/day q6hypertension, muscle cramps,
12h (maximum dose = 0.9
abdominal cramps, nausea,
mg/day)
vomiting, diarrhea
Adult: 0.1 mg test dose, check
Pathologic: acute overdose may cause
Intubation and ventilation
postural blood pressure; if
respiratory arrest and death
Naloxone (IV, IM, SC, ETT):
stable, 0.1-0.2 mg PO q4-6h
Children < 20 kg: 0.1 mg/kg/
Long-term treatment:
dose
Long-term therapeutic support
q2-3h
Methadone maintenance
Children > 20 kg: 2-5 mg/dose
(specialized clinics only) or
buprenorphine induction and
maintenance (can be prescribed
by physicians who complete 8
hours of training and acquire
DEA waiver)
Miscellaneous information: Individuals who abuse narcotics seldom seek treatment for intoxication. They are more often found semicomatose and brought to the hospital by friends or emergency
medical services for treatment. In treating an overdose, remember that naloxone has a shorter duration of action than most narcotic drugs do, and doses therefore need to be repeated at fairly
frequent intervals. These patients require lengthy periods of observation (12 to 24 hours) in the hospital.
445
446
SECONDARY
ABSTINENCE
Monitoring, support
DEPENDENCE
Inpatient treatment
ABUSE
Outpatient treatment
PROBLEMATIC USE
Office intervention
NONPROBLEMATIC USE
Risk reduction
EXPERIMENTATION
Information and advice
ABSTINENCE
Praise and encouragement
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
Precontemplation
Contemplation
Relapse
Determination
Maintenance
Action
Termination
Therapist EMPATHY
447
TREATMENT
Pediatric clinicians should be familiar with treatment
resources in their own communities. Programs vary in
both intensity and philosophy, but complete abstinence
from alcohol and drugs is the primary goal. In general,
treatment programs fall into one of the following cat
egories: detoxification, replacement therapy, residential
treatment, and outpatient treatment.
Detoxification programs are relatively short-term
inpatient programs whose goal is the medical manage
ment of physiologic withdrawal symptoms (outpatient
detoxification is now more widely available). Tradi
tionally, these programs have concentrated on alcohol
dependence because alcohol withdrawal symptoms can
be life-threatening. Detoxification is also appropriate
for individuals who are addicted to sedatives, barbitu
rates, heroin, and other opioids. Many teenagers do not
require detoxification because physiologic dependence
is less common in this age group. In those cases in which
it is necessary, detoxification should be viewed as a first
step in treatment and always followed by long-term
counseling and support.
448
Signature
Date
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
C
Have you ever felt you should CUT DOWN on your drinking?
Do you ever have a drink first thing in the morning (EYE-OPENER) to steady your
nerves or get rid of a hangover?
449
Figure 45-7. The CAGE questions. A positive screen is two or more yes answers. (From Bush B, Shaw S, Cleary P, et al: Screening for
alcohol abuse using the CAGE questionnaire. Am J Med 82:231-235, 1987; Ewing JA: Detecting alcoholism: The CAGE questionnaire.
JAMA 252:1905-1907, 1984.)
SUBSTANCE-ABUSING PARENTS
It has been estimated that there are 11 million children
and adolescents in the United States who have an alco
holic parent, or one of every eight children (MacDonald
and Blume, 1986). Clinicians should routinely ask about
450
Give parents a listing of the FACTS that have led to your concern.
Figure 45-8. Principles of effective intervention with parents. (From Wilson CR, Knight JR: When parents have a drinking problem. Contemp
Pediatr 18:67-79, 2001.)
SUMMARY
Substance use and misuse is a leading cause of morbidity
and mortality for adolescents in the United States. Pedi
atric clinicians should routinely screen all teenagers and
view use of alcohol and drugs on a spectrum from the
high-prevalence, low-severity phenomenon of experi
mentation through the low-prevalence, high-severity
disorders of abuse and dependence. For low-severity
cases, brief office interventions are appropriate. Once a
teenager has progressed to abuse or dependence, refer
ral to specialty treatment is needed. Clinicians should
be familiar with treatment resources in the local com
munity and provide follow-up during the process of
recovery. More research is needed on what constitutes
effective treatment. All health care providers should also
be aware that children may be affected by substance use
and misuse on the part of their parents. Questions about
parental use of alcohol and drugs should be part of a
family screening. When problems are identified, clini
cians should refer parents to adult mental health profes
sionals for formal evaluation and treatment and insist
on being a part of continuing family health care.
REFERENCES
Adger H, Werner MJ: The pediatrician. Am J Addict 5(4):s20-s29,
1996.
American Academy of Pediatrics: Testing for drugs of abuse in children
and adolescents. Pediatrics 98(2):305-307, 1996.
Chapter 45 Substance Use, Abuse, and Dependence and Other Risk-Taking Behaviors
Freeland JB, Campbell RS: The social context of first marijuana use.
Int J Addict 8:317-334, 1973.
Friedman LS, Strunin L, Hingson R: A survey of attitudes, knowledge,
and behavior related to HIV testing of adolescents and young
adults enrolled in alcohol and drug treatment. J Adolesc Health
14(6):442-445, 1993.
Heather N: Psychology and brief interventions. Br J Addict 84(4):
357-370, 1989.
Hingson RW, Heeren T, Winter MR: Age at drinking onset and alco
hol dependence: Age at onset, duration, and severity. Arch Pediatr
Adolesc Med 160(7):739-746, 2006.
Jacobsen LK, Mencl WE, Westerveld M, Pugh KR: Impact of canna
bis use on brain function in adolescents. Ann N Y Acad Sci 1021:
384-390, 2004.
Jessor R, Jessor SL: Problem Behavior and Psychosocial Development.
New York, Academic Press, 1977.
Johnson JL, Leff M: Overview of the Research on Children of Sub
stance Abusers. Core Competencies for Involvement of Health Care
Professionals in the Care of Children and Adolescents in Families
Affected by Substance Abuse, Executive Office of National Drug
Control Policy, Washington, DC, 1997.
Johnston LD, OMalley PM, Bachman JG, Schulenberg JE: Monitor
ing the Future National Results on Adolescent Drug Use: Over
view of Key Findings, 2005. Bethesda, MD, National Institute on
Drug Abuse, 2006. NIH Publication 06-5882.
Jones KL, Smith DW, Ulleland CN, Streissguth P: Pattern of
malformation in offspring of chronic alcoholic mothers. Lancet
1:1267-1271, 1973.
Kadden R, Carroll K, Donovan D, et al: Cognitive-Behavioral Coping
Skills Therapy Manual: A Clinical Research Guide for Therapists
Treating Individuals with Alcohol Abuse and Dependence. Rockville,
MD, National Institute on Alcohol Abuse and Alcoholism, 1994.
Kandel D, Raveis V: Cessation of illicit drug use in young adulthood.
Arch Gen Psychiatry 46(2):109-116, 1989.
Kelly JF, Myers MG, Brown SA: Do adolescents affiliate with 12-step
groups? A multivariate process model of effects. J Stud Alcohol
63(3):293-304, 2002.
Knight JR, Goodman E, Pulerwitz T, DuRant RH: Reliability of the
Problem Oriented Screening Instrument for Teenagers (POSIT)
in an adolescent medical clinic population. J Adolesc Health
29(2):125-130, 2001.
Knight JR, Sherritt L, Shrier LA, et al: Validity of the CRAFFT
substance abuse screening test among adolescent clinic patients.
Arch Pediatr Adolesc Med 156:607-614, 2002.
Kulig JW: Tobacco, alcohol, and other drugs: The role of the
pediatrician in prevention, identification, and management of
substance abuse. Pediatrics 115(3):816-821, 2005.
MacDonald D, Blume S: Children of alcoholics. Am J Dis Child
140(8):750-754, 1986.
Miller W, Sanchez V: Motivating young adults for treatment and
lifestyle change. In Howard G, Nathan P (eds): Issues in Alcohol
Use and Misuse by Young Adults. Notre Dame, IN, University of
Notre Dame Press, 1994, pp 51-81.
Miller WR, Rollnick S: Motivational Interviewing: Preparing People
for Change, 2nd ed. New York, Guilford, 2002.
451
46
SELF-CONTROL AND
SELF-REGULATION: Normal
development to Clinical
Conditions
Karen Olness
Vignettes
Ben, age 32 months, hears his mother say that there is ice cream for dessert. He immediately says,
Iwant ice cream. He is told that he may have ice cream after he finishes his spaghetti. He jumps off
his chair and throws himself on the floor, shouting that he wants ice cream now.
Sarah, age 9 years, is seated at the dinner table with her parents and siblings. Family conversation
is animated and cheerful. Sarah is glum. After poking at her food for a few minutes, she leaves the
table, saying she has to study for her math test. An 11-year-old brother says, What are you worried
about? Its only a fourth-grade math test. Sarah begins to cry and runs to her room.
David, age 44 years, is 5 feet 10 inches tall and has weighed more than 260 pounds for the past
20 years. His cholesterol level is 250 mg. His family physician has helped him develop a plan to
lose weight, which includes exercise and careful attention to food choices. David finished a low-fat
dinner and followed this with a 2-mile walk. Now he is watching television and thinks that a dish of
ice cream would really taste good. He heads for the freezer.
454
hide-and-seek. He or she increases drawing skills and coloring skills and learns to read. As the child experiences
successes, he or she is motivated to develop further
skills.
A normal child will be motivated to improve
self-control throughout grade school, especially in areas
of special interest. At this time, many children develop
skills in computer games or sports or chess. However,
the child does not yet have abstract reasoning ability
and, in spite of skills in many areas, should not be given
responsibilities that require abstract reasoning.
Young adolescents often have problems of selfcontrol over the new domains in their lives and make
poor judgments with respect to use of drugs and sexual
behavior. Their brains are not yet mature. Adult levels
of synapses in the middle frontal gyrus (i.e., prefrontal
cortex) are not reached until middle to late adolescence.
This development is associated with development of
abstract reasoning ability and increased executive function as well as abilities in multitasking. Most normal
adolescents, after the age of 16 years, will improve their
self-control, including their judgment and decision making. Some adolescents, depending on the extent of early
brain injury from many possible causes, may never develop normal self-control or executive functions.
The neural basis of self-control and self-regulation
relies heavily on the prefrontal cortex. The prefrontal
cortex is located anterior to the motor cortices in the
frontal lobe of the brain. It begins to develop in late infancy and continues to develop throughout adolescence.
This region of the brain plays a fundamental role in internally guided behavior through working memory and
executive control operations. The different subregions
may have separate functions related to executive control (Wagner et al, 2001). The dorsolateral prefrontal
cortex is implicated in attention and working memory.
The ventromedial prefrontal cortex, with connections
to and from the amygdala, is implicated in controlling
emotions, such as fear. The orbitofrontal cortex is implicated in sensory integration and decision making.
There are several studies indicating that stressors can
cause working memory deficits through increased catecholamine levels (Arnsten and Li, 2005). Chapter 50
provides definitions of stress, the physiologic correlates,
and the nature of coping. In situations of high stress,
interventions to reduce stress and to encourage coping
(see Chapter 50) or adjustment (see Chapter 42) can be
anticipated to improve prefrontal cortical function and
subsequent self-control and self-regulation.
455
Cause
Examples
Prematurity
Small for gestational age
Genetic disorders
Neurologic disorders
Infections
Trauma
Difficult temperament
Divorce
Lack of a maternal figure
Cerebral palsy
Enuresis and encopresis
Thumb
sucking
Eating
disorders
Substance
abuse
Sleep
problems
Attentiondeficit/
hyperactivity
disorder
Conditioned
fears, e.g.,
weather
Dyshidrosis
Trichotillomania
Simple tics
Habit cough
Disruptive
behavior
Aggression
Bullying
Socially
inappropriate
behavior
Oppositional
behavior
Habit disorders,
e.g., nail
biting
Trichotillomania
Self-management of
a chronic
illness, e.g.,
diabetes
Difficulty in
organizing
schedule
Careless driving
Difficulty in
completing tasks
Dyshidrosis
Antisocial
behaviors
Compliance with
medical
regimens
Aggression
Self-injury
Absence from
school
Inappropriate
expressions
of sexuality
Enuresis or
encopresis
Tantrums
456
DIAGNOSTIC EVALUATIONS
In making assessments of problems in self-control, it
is helpful to ask questions about the problem, how it
is perceived, and where it is causing the greatest difficulty (Table 46-4) in addition to usual questions about
health history. The reason for asking about how parents respond to worry or anxiety is to emphasize to the
child that his or her parents do worry sometimes and
do recognize their personal responses to worry or to
determine if the childs response to anxiety is similar. It
is also important to have parents describe what things
the child does well, because the child may not realize
that parents do have some positive thoughts about him
or her.
Motivational interviewing techniques are useful in
exploring problems related to self-regulation (Erickson
et al, 2005). Motivational interviewing is conducted in
a way that supports autonomy and shows respect for
views of the child or adolescent. Motivational interviewing explores how a child or adolescent feels about
changing behavior indicative of poor self-control and
perceptions about how life might be different when a
behavior is changed. For example, it is helpful to ask
a child with enuresis what will be different when all of
his or her beds are dry. If the child does not have a clear
idea about the benefits of having dry beds, he or she
may need some time before embarking on a treatment
program.
In evaluating problems of self-regulation, it is essential
to evaluate the parents (or guardians) and home environment. What are the parents beliefs and philosophies
about raising children? What are the culture and ethnic
background of the family? Did the parents have similar
problems? Do they continue to have these problems?
What is the educational level of the parents? Do the parents have learning disabilities? What have been major
family stressors? Questionnaires in advance of the visit
may provide some of this information. It may also be
important to see parents only during an initial visit and
to see the child with parents during the second visit.
Sometimes it is helpful to request films of the childs behavior at home or to ask to review photo albums about
the child and family.
Depending on the problem, decisions should be
made about additional testing, including physical
examinations and laboratory, radiologic, or psychometric assessments. It is important to rule out causes such
as metabolic diseases, attention-deficit/hyperactivity
disorder, learning disabilities, or an event in the fetal
or perinatal period that may have compromised cognitive function years previously. It may be appropriate to
TREATMENT
If a biologic basis is identified for a self-regulation problem, efforts should be made to treat it. For example, if a
child with onset enuresis has hyperthyroidism, the condition can be treated. If a child with disruptive behavior
in school is found to have myotonic dystrophy, the basic
problem cannot be treated. However, it is often helpful
for families to have more precise explanations for problems in self-control, even if the basic problem cannot
be treated. Such information may assist their plans with
respect to how much continuing guidance a child may
need when adulthood is reached, whether a legal guardianship should be established, and what financial issues
need to be addressed.
If evaluation has determined that the child has a
learning disability that contributes to the self-regulation
problem or complicates treatment, this factor must be
considered by physicians, therapists, and teachers. An
example might be a child with test anxiety who has
a math disability, making it unlikely that he or she
can perform well in math tests in spite of efforts to
reduce the anxiety. If a self-regulation issue relates to
the developmental stage of the child (e.g., temper tantrums in a 2-year-old or toilet training problems in a
30-month-old child), parents should be provided with
explanations about normal development and provided
with strategies to facilitate mastery in their young
children.
Some problems of self-regulation may be treated
successfully by providing the child or adolescent an
opportunity to learn self-hypnosis with or without
biofeedback (Table 46-5). For some conditions, such
as performance anxiety or nocturnal enuresis, training
457
Examples
Domain
Examples
Habit problems
Thumb sucking
Simple tics
Habit cough
Nocturnal enuresis
Nail biting
Sports performance
Music performance
Examinations
Conditioned hyperventilation
Conditioned dysphagia
Raynaud phenomenon
Reflex sympathetic dystrophy
Pain management
Performance anxiety
Control of conditions
involving autonomic
dysregulation
Other
458
Vignette
Andrea is a 9-year-old girl who had migraine
headaches diagnosed when she was 7 years old. Her
mother also has migraine headaches, which began in
childhood. The migraine episodes gradually increased
in frequency to two or three each month. Each episode
lasted 8 to 24 hours, and if they began in school,
she had to leave the classroom. Symptoms included
a right temple area headache with nausea, vomiting,
runny nose, cold hands, and cold feet. At the age of
8 years, she was evaluated by a child neurologist who
ordered a head computed tomography scan, which was
normal. He prescribed ibuprofen for acute migraine
episodes and cyproheptadine (Periactin) for prevention.
Ibuprofen gave partial relief of discomfort. Andrea
tried to continue normal activities but usually had to
give up and then slept for several hours. She would
feel weak for a day or two after each migraine episode
ended.
She was referred to a behavioral pediatrician to
learn self-hypnosis with biofeedback for prevention
of migraine episodes. One of her favorite activities
was bicycle riding with friends. She was taught a
self-hypnosis induction involving bike riding. The
pediatrician monitored her peripheral temperature
and noted that her temperature increased 3 degrees
while she imagined riding her bike with friends. He
emphasized that she achieved this change simply by
changing her thinking. He asked her to practice the
10-minute self-hypnosis exercise twice daily for a
month. When Andrea returned 2 weeks later for a
follow-up visit, she had had no migraine episodes.
The pediatrician taught her some pain management
methods to use with self-hypnosis in the event that
she should have a migraine episode. At the third
visit, she said that a migraine episode started but she
immediately sat down and practiced her self-hypnosis
and pain control. The episode ended a few minutes
later. The pediatrician asked her to continue practice
once daily and to let him know her progress by e-mail.
During a 1-year follow-up, she had only two mild
migraine episodes, which she stated that she controlled
herself.
PSYCHOTHERAPY
Problems of self-regulation and self-control are often
associated with problems of anxiety or depression,
personality disorders, or other psychiatric diagnoses.
SUMMARY
Excellent physical and mental self-regulation in the
human requires smooth, interactive functioning of
metabolic, endocrine, neural, cardiovascular, and musculoskeletal pathways. When there are limitations in any
of these pathways, the capacity to self-regulate may be
inhibited. Some of these inhibiting factors are eliminated
as the child matures; some may be treated. Others lead
to permanent limitations or handicaps. The capacity to
self-regulate motor, sensory, cognitive, and emotional
459
REFERENCES
Ainsworth M: Infant-mother attachment. Am Psychol 34:932-937,
1979.
Arnsten AFT, Li BM: Neurobiology of executive functions: Catecholamine influences on prefrontal cortical function. Biol Psychiatry
57:1377-1384, 2005.
Brazelton TB: Neonatal Behavioral Assessment Scale. Philadelphia, JB
Lippincott, 1973.
Culbert T: Comfort Kit for Kids and Families. MinneapolisSt. Paul,
MN, Childrens Hospitals and Clinics, 2005.
Erickson SJ, Gerstle M, Feldstein SW: Brief interventions and motivational interviewing with children, adolescents, and their parents in pediatric health care settings. Arch Pediatr Adolesc Med
159:1173-1180, 2005.
Gunnar MR, Vazquez DM: Stress neurobiology and developmental
psychopathology. In Cicchetti D, Cohen DJ (eds): Developmental
Psychopathology, 2nd ed. New York, Wiley, 2006.
Iannotti RJ, Schneider S, Nansel TR, et al: Self-efficacy, outcome expectations, and diabetes self-management in adolescents with type
1 diabetes. J Dev Behav Pediatr 27:98-105, 2006.
Kuttner L: No Fears, No Tears: 13 Years Later. Vancouver, Canada,
Canadian Cancer Society, 1999.
Olness K: The global epidemic of cognitive impairment. J Dev Behav
Pediatr 24:120-130, 2003.
Olness K, Kohen DP: Hypnosis and Hypnotherapy with Children.
New York, Guilford, 1996.
Schwarz ED, Perry BD: The post-traumatic response in children and
adolescents. Psychiatr Clin North Am 17:311-327, 1994.
Steinbrook R: Imposing personal responsibility for health. N Engl J
Med 355:753-756, 2006.
Sturner RA, Howard BJ: Preschool development. Part 2: Psychosocial/
behavioral development. Pediatr Rev 18:327-336, 1997.
Thomas A, Chess S: Temperament and Development. New York,
Brunner & Mazel, 1977.
Thomson L: Harry the Hypno-potamus: Metaphorical Tales for
theTreatment of Children. London, Crown House Publishing,
2005.
Wagner AD, Maril A, Bjork RA, Schacter DL: Prefrontal contributions to executive control: fMRI evidence for functional distinctions within lateral prefrontal cortex. Neuroimage 14:1337-1347,
2001.
SECTION
47
MAJOR DISTURBANCES OF
EMOTION AND MOOD
Amy Cheung and Peter Jensen
Vignette
Jenna was a previously bright and competent young adolescent who earned As and Bs in all of her
subjects. When she turned 15 years old and entered the 10th grade, she began to fail tests and courses.
Her mother became concerned that she was spending increasing time in her room and did not want
to get out of bed in the morning. However, her mothers efforts to get her out led to many family fights.
Jenna also became more irritable, frequently starting fights with her younger sister.
Her parents sought counsel from the primary care physician, who referred the family to a mental
health professional. The psychiatrist elicited that Jenna could no longer focus on school work and had
lost interest in hanging out with her friends. She admitted she was sad most of the time and cried
for no reason. She could not fall asleep at night because her mind was racing with worries about her
school work and problems with her friends. Even after sleeping for more than 10 hours, she still felt
tired all day long. She started having thoughts that life is not worth living and thought about taking
some pills to sleep and never wake up but had no explicit plans to kill herself.
The psychiatrist diagnosed Jenna with depression and prescribed one of the selective serotonin
reuptake inhibitors. During the course of the next 4 months, Jennas symptoms improved. Her school
work also improved and she finished the school year, failing only one subject. Because she was feeling
so much better, she decided to have a trial off her medication while she was at camp for the summer.
The following fall, she complained of feeling stressed about the school year. She began to have trouble
with her sleep again. Two months into the school year, Jenna was diagnosed with a recurrence of her
depression. She began treatment once again with the same selective serotonin reuptake inhibitor.
462
MAJOR DEPRESSION
Depressive disorders are among the most common mental disorders affecting children and adolescents. Several studies have been conducted to assess prevalence
of these disorders in community-dwelling children and
adolescents, with depression prevalence estimates ranging from 1% to 3% in prepubertal children and from
3% to 9% in adolescents (Fleming et al, 1989). Before
the onset of puberty, the gender ratio is generally 1:1
or equal. After puberty, girls have been shown to be at
higher risk for depression (Fleming et al, 1989). The
gender ratio is generally maintained throughout adulthood, with women having a twofold to threefold higher
risk for development of depression (Kornstein, 2001).
The lifetime prevalence rate of depression in adolescents has been estimated to be as high as 20% to 25%
(American Academy of Child and Adolescent Psychiatry, 1998). The prevalence of another persistent form
of depression, dysthymic disorder, is approximately 3%
in adolescents. The prevalence of other depressive disorders
(i.e., adjustment disorder, psychotic depression,
bipolar depression)
has not been well documented or
studied (Lewinsohn et al, 1993).
The etiology of depression has been examined in numerous studies, and no necessary or sufficient causes have
been identified. However, the numerous risk factors that
have been linked to depression fall into three categories: biologic, psychological, and social-environmental
(Waslick et al, 2002). Among the biologic correlates, the
most significant and well studied factor is genetics or
heredity of depression. Numerous studies have shown
higher rates of depression in adult relatives of depressed
children and adolescents (Weissman et al, 1997). Furthermore, the increased rates appear to be specific to
depression alone and not to all types of psychiatric
disorders. Rates of depression have been found to be
higher in offspring of parents with mood disorders as
well as in twins of patients with depressive disorders
(Weissman et al, 1997). The high rates of depression
within families may not be explained by genetics alone.
Other possible risk factors, such as the impact of living with a family member with a mood disorder, have
been implicated and need to be further explored. For
463
A. F
ive (or more) of the following symptoms have been present
during the same 2-week period and represent a change from
previous functioning; at least one of the symptoms is either (1)
or (2).
(1) depressed mood most of the day, nearly every day, as
indicated by either subjective report (e.g., feels sad or
empty) or observation made by others (e.g., appears tearful)
(2) markedly diminished interest or pleasure in all, or almost
all, activities most of the day, nearly every day (as indicated
by either subjective account or observation made by others)
(3) significant weight loss when not dieting or weight gain
(4) insomnia or hypersomnia nearly every day
(5) psychomotor agitation or retardation nearly every day
(6) fatigue or loss of energy nearly every day
(7) feelings of worthlessness or excessive or inappropriate guilt
(8) diminished ability to think or concentrate, or indecisiveness,
nearly every day
(9) recurrent thoughts of death (not just fear of dying),
recurrent suicidal ideation without a specific plan, or a
suicide attempt, or a specific plan for committing suicide
B. The symptoms do not meet criteria for a Mixed Episode.
C. The symptoms cause clinically significant distress or
impairment in social, occupational, or other important areas of
functioning.
D. T
he symptoms are not due to the direct physiological effects of
a substance (e.g., a drug of abuse, a medication) or a general
medical condition (e.g., hypothyroidism).
E. T
he symptoms are not better accounted for by Bereavement,
that is, after a loss of a loved one, the symptoms persist for
longer than 2 months or are characterized by marked functional
impairment, morbid preoccupation with worthlessness, suicidal
ideation, psychotic symptoms, or psychomotor retardation.
Therapy
Key Components
Cognitivebehavioral
therapy
Interpersonal
therapy for
adolescents
A final consideration in the assessment and diagnosis of depressive disorders is the impact of comorbid
conditions. The most common comorbidities are anxiety disorders, behavioral disorders, substance abuse or
dependence, eating disorders, and learning disabilities.
Patients with comorbidities are generally more difficult
to treat and, even with symptom reduction, their functioning may remain poor.
Management
depressive disorder secondary to a medical condition or
to substance use. Postpartum depression may also occur
in adolescents after pregnancy. Adolescents who present
with depressive symptoms may also have a cycling mood
disorder, such as bipolar disorder or cyclothymia.
The presentation of depression in children and adolescents may vary compared with adults presenting
with depression. In particular, children with depression often present with somatic complaints and have
a withdrawn and sad appearance. Older children or
adolescents are more likely to present with irritability than with a sad mood. Teenagers may also present
with reactivity of mood, that is, their mood can seem
normal at times, with periods of tearfulness, sadness,
or irritability. Reactivity of mood frequently confuses
clinicians and parents who are caring for an adolescent.
Finally, adolescents are also more likely to present with
hypersomnia and hyperphagia compared with adults
with depression.
One other factor complicating the diagnosis of depression in adolescents is the nature of adolescence
itself, as teens may often experience moodiness, irritability, and withdrawal from parental figures. Therefore,
clinicians as well as parents and other caregivers of adolescents need to be aware of the differences in clinical
presentation between normal adolescence and depressive
disorders.
Psychotherapy
Two forms of psychotherapy have been shown to be efficacious in depression: interpersonal therapy for adolescents (IPT-A) and cognitive-behavioral therapy (CBT).
The core components of IPT-A and CBT are shown in
Table 47-2 and discussed in Chapter 89. Interpersonal
therapy was first developed for the treatment of adult
depression and was modified for adolescents by Mufson
and colleagues (1999). Several studies have demonstrated the effectiveness of IPT-A in resolving depressive
symptoms in adolescents, with use of both group and
464
individual treatment formats. Furthermore, recent trials have been completed in real-world settings, such
as school-based clinics, with good outcomes (Mufson
et al, 2004). Numerous studies have also demonstrated
the efficacy of CBT in group and individual formats for
prevention and for treatment of depression in children
and adolescents (Compton et al, 2004).
Only one federally funded, randomized controlled trial
in adolescent depression examined and compared the effectiveness of CBT in combination with antidepressant
medication versus medication alone or CBT alone (March
et al, 2004). This study, the Treatment for Adolescents
with Depression Study (TADS), found that those youth
treated with CBT alone did not fare any better than
those treated with placebo. However, those treated with
CBT along with antidepressant medication (fluoxetine)
showed the highest response and remission rates along
with better functioning. Overall findings suggested that
psychotherapy or antidepressant medication alone might
be started as the initial treatment for youth with mild or
moderate depression with no complicating factors, such
as psychosis or other comorbid illnesses. If no response is
seen within 4 to 6 weeks, combination therapy with antidepressant medication or psychotherapy should be tried.
If both options are available, the emerging evidence from
TADS indicates that it may be advisable for clinicians to
begin combination therapy with psychotherapy and antidepressant medication in outpatients who are diagnosed
with major depressive disorder.
Importantly, given the controversy about the emergence of suicidality in youth treated with antidepressants, Bridge and colleagues examined suicidality rates
in depressed adolescents enrolled in a psychotherapy
trial but not treated with antidepressants. Rates for
new-onset or worsening suicidality among depressed
youth treated with psychotherapy only were similar to
those treated with antidepressants in the medication
trials (Bridge et al, 2005).
Antidepressants
Treatment trials involving tricyclic antidepressants for
depression in children and adolescents showed no benefit from treatment. Furthermore, studies indicated that
these medications were associated with risk of mortality
due to overdose and cardiac toxicity. Therefore, tricyclic
antidepressants are no longer used in the treatment of
depression, although they may still be useful in the management of other disorders in children and adolescents.
Antipsychotics
In depressed patients who also present with psychotic
symptoms, antipsychotics have been used along with
antidepressant medications. The most commonly used
class of antipsychotics is the atypicals, which include
risperidone, olanzapine, and quetiapine. However, no
studies on psychotic depression have been conducted in
the pediatric population. Therefore, the dosages used
for children and adolescents are generally comparable
to those used in adults. For readers interested in learning
more about the use of atypical antipsychotics in youth,
Table 47-3. Dosing and Adverse Effects of Selective Serotonin Reuptake Inhibitors
Medication
Starting
Dose
Effective
Dose
Maximum
osage
D
Not to Be
Used with
Citalopram
Fluoxetine
10 mg/od
10 mg/od
20 mg
20 mg
60 mg
60 mg
MAOIs
MAOIs
Fluvoxamine
Paroxetine
50 mg/od
10 mg/od
150 mg
20 mg
300 mg
60 mg
MAOIs
MAOIs
Sertraline
Escitalopram
25 mg/od
5 mg/od
100 mg
10 mg
200 mg
20 mg
MAOIs
MAOIs
BIPOLAR DISORDER
Bipolar disorder is less prevalent than major depression
in the pediatric population. The prevalence of bipolar
disorder in adolescents aged 14 to 18 years has been
estimated at 0.95%, with the majority of these adolescents reporting symptoms of hypomania, a less severe
form of mania, rather than full-blown mania (American
Academy of Child and Adolescent Psychiatry, 2007a).
Much less is known about the prevalence in children.
From surveys of adult bipolar patients, approximately
17% report symptom onset before the age of 10 years
(American Academy of Child and Adolescent Psychiatry, 2007a). Although the prevalence of bipolar disorder
in adults is equal for men and women, gender differences among children and adolescents with bipolar disorder is not known (American Academy of Child and
Adolescent Psychiatry, 2007a).
Attention-deficit/hyperactivity disorder (ADHD)
may precede or coexist in more than 60% of children or
adolescents with bipolar disorder (Carlson et al, 2000).
However, although there is suggestion that these
disorders represent different spectrums of the same
disease process, only 1.3% of children diagnosed with
ADHD between the ages of 6 and 12 years go on to
develop bipolar disorder as young adults (Carlson et al,
2000).
Several factors have been associated with the development of bipolar disorder. Genetics, as with other
mood disorders, play a significant role. Individuals with
a first-degree relative with bipolar disorder are four
to six times more likely to develop the disorder themselves (American Academy of Child and Adolescent
Psychiatry, 2007a).
465
Management
Treatments of bipolar disorder in the pediatric population have not been systematically evaluated, but common
mood stabilizers used to treat adults with bipolar
disorder are also used clinically in children asyoung as
preschoolers. A list of common mood stabilizers and
their side effects are noted in Table 47-5. Each of these
medications is described in detail here.
466
Starting
Dose
Effective
Dose
Maximum
Dosage
Possible
I nteractions
Common Adverse
Effects
Lithium
150 mg/od
Based on serum
levels*
Based on serum
levels*
Valproic acid
250 mg/od
Carbamazepine
100 mg/od
Risperidone
0.5 mg/od
Based on serum
levels*
Based on serum
levels*
2-4 mg
Based on serum
levels*
Based on serum
levels*
6 mg
Nonsteroidal antiinflammatory
drugs
Carbamazepine,
lamotrigine
Valproic acid,
lamotrigine
None
Olanzapine
1.25 mg/od
5 mg
15 mg
None
*Serum
levels (12 hours after dose): lithium, range 0.5-1.0 mEq/L; valproic acid, range 50-100 g
/mL; carbamazepine, range 4-12 g/mL.
Lithium
There are several small randomized controlled trials
looking at children and adolescents with bipolar disorder
and the efficacy of lithium (American Academy of Child
and Adolescent Psychiatry, 2007a). These findings suggest some benefit with lithium in this population. Several
naturalistic studies also support the efficacy of lithium.
For example, Strober and colleagues (1990) conducted
an open study of children who responded to lithium but
who were nonadherent with continued treatment. Those
who were nonadherent relapsed much quicker than did
those who continued with lithium (American Academy
of Child and Adolescent Psychiatry, 2007a).
Anticonvulsants
ANXIETY DISORDERS
Anticonvulsants have been widely used and well studied in children with epilepsy. However, the evidence
for bipolar disorder has been limited to case reports or
small case series. Emerging evidence suggests that anticonvulsants may be helpful in managing this disorder in
the pediatric population (American Academy of Child
and Adolescent Psychiatry, 2007a).
The common side effects of anticonvulsants are shown
in Table 47-5. One noted association is the development
of polycystic ovary syndrome in postpubertal girls. Polycystic ovary syndrome is characterized by obesity, hydroid androgynism (which can present as alopecia, acne,
and increased facial hair), hyperinsulinemia, and lipid
abnormalities. The link between valproic acid and polycystic ovary
syndrome
was first described in epileptic patients. However, patients with epilepsy may already be at
increased risk for endocrine disorders, and the increased
occurrence of polycystic ovary
syndrome
may not be associated with the medication alone. Furthermore, these
patients have had extended exposure to anticonvulsants
compared with those with bipolar disorder.
Atypical Antipsychotics
Both risperidone and olanzapine have been used in open
trials for adolescents with bipolar disorder. Barzman
and colleagues in 2006 conducted a controlled trial
comparing valproate with quetiapine. Both valproate
and quetiapine were found to be effective (Barzman
et al, 2006). The use of atypical antipsychotics in this
Social Phobia
Social phobia (SP) is a common disorder in children
and adolescents. SP affects up to 2% of children and
adolescents with a peak age at onset between 11 and 12
years (Beidel et al, 2004). These patients present with
excessive fears about being in public spaces or social
situations and fears of speaking in front of others. The
diagnostic criteria for SP are shown in Table 47-6. SP
467
Table 47-6. Diagnostic Criteria for Social Phobia, Separation Anxiety Disorder, and Generalized Anxiety
Disorder (DSM-IV-TR)
Diagnostic Criteria for Social Phobia
A. A
marked and persistent fear of one or more social or performance situations in which the person is exposed to unfamiliar people or to
possible scrutiny by others. The individual fears that he or she will act in a way (or show anxiety symptoms) that will be humiliating or
embarrassing.
B. E
xposure to the feared social situation almost invariably provokes anxiety, which may take the form of a situationally bound or
situationally predisposed Panic Attack.
C. The person recognizes that the fear is excessive or unreasonable.
D. T
he feared social or performance situations are avoided or else are endured with intense anxiety or distress.
E. T
he avoidance, anxious anticipation, or distress in the feared social or performance situation(s) interferes significantly with the persons
normal routine, occupational (academic) functioning, or social activities or relationships, or there is marked distress about having the
phobia.
F. In individuals under age 18, the duration is at least 6 months.
G. T
he fear or avoidance is not due to the direct physiological effects of a substance, or a general medical condition, and is not better
accounted for by another mental disorder.
H. If a general medical condition or other mental disorder is present, the fear in Criterion A is unrelated to it.
468
Panic Disorder
Panic disorder (PD) is rarely reported in children
and occurs in less than 1% of adolescents (American
Academy of Child and Adolescent Psychiatry, 2007b;
Whitaker etal, 1990). Children and adolescents with
PD have recurrent panic attacks. These patients may
endorse a number of symptoms during the attacks, including diaphoresis, nausea, shortness of breath, and
palpitations (Table 47-7). Along with physical symptoms, a patient may also have cognitive symptoms,
such as thoughts they he or she may be dying or going
Table 47-7. DSM-IV Criteria for Panic Attack andPanic Disorder Without Agoraphobia
Panic Attack
A discrete period of intense fear or discomfort, in which four (or more) of the following symptoms developed abruptly and reached a peak
within 10 minutes:
(1) palpitations, pounding heart, or accelerated heart rate
(2) sweating
(3) trembling or shaking
(4) sensations of shortness of breath or smothering
(5) feeling of choking
(6) chest pain or discomfort
(7) nausea or abdominal distress
(8) feeling dizzy, unsteady, lightheaded, or faint
(9) derealization (feeling of unreality) or depersonalization (being detached from oneself)
(10) fear of losing control or going crazy
(11) fear of dying
(12) paresthesias (numbing or tingling sensations)
(13) chills or hot flushes
Panic Disorder
A. Both (1) and (2):
(1) recurrent unexpected Panic Attacks
(2) at least one of the attacks followed by 1 month (or more) of one (or more) of the following:
(a) persistent concern about having additional attacks
(b) worry about the implications of the attack or its consequences (e.g., losing control, having a heart attack, going crazy)
(c) a significant change in behavior related to the attacks
B. Absence of Agoraphobia.
C. The Panic Attacks are not due to the direct physiological effects of a substance (e.g., a drug of abuse, a medication) or a general medical
condition (e.g., hyperthyroidism).
D. T
he Panic Attacks are not better accounted for by another mental disorder, such as Social Phobia (e.g., occurring on exposure to feared
social situations), Specific Phobia (e.g., on exposure to a specific phobic situation), Obsessive-Compulsive Disorder (e.g., on exposure to
dirt in someone with an obsession about contamination), Post-traumatic Stress Disorder (e.g.,in response to stimuli associated with a
severe stressor), or Separation Anxiety Disorder (e.g., in response to being away from home or close relatives).
From American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 4th ed. Washington, DC, American Psychiatric Association, 1994.
Management
Treatment of GAD, SAD, and SP includes both psychotherapy and medications (see Chapter 89). In general, CBT, in either group or individual format, has
been shown to be effective in treating anxiety in children and adolescents (American Academy of Child and
Adolescent Psychiatry, 2007b). In children with anxiety disorders, parent management is also helpful either alone or in conjunction with therapy for the child
(American Academy of Child and Adolescent Psychiatry, 2007b). CBT has also been shown to be efficacious
when it is delivered in other settings, such as schoolbased interventions (Compton et al, 2004). Therefore,
CBT is recommended for first-line treatment of these
disorders in children. Other components that have
been shown to be effective in conjunction with group
or individual CBT include parental involvement and
early intervention for those with subsyndromal or mild
symptoms. Therapies based on cognitive-behavioral
theories have also been developed for the treatment
of PD and shown to have positive effects (American
Academy of Child and Adolescent Psychiatry, 2007b).
Psychotherapeutic treatments of PTSD have included
components of CBT, exposure, and psychoeducation.
These have generally been shown to be effective (Beidel
and Turner, 2005).
469
Antidepressants
Although no medications have been approved by the
Food and Drug Administration for use in children or adolescents for GAD, SAD, PD, PTSD, or SP, SSRIs have
been used clinically in children and adolescents with these
disorders. There is increasing evidence from controlled
trials indicating improved clinical outcomes in children
and adolescents treated with fluoxetine (GAD, SAD, SP),
fluvoxamine (GAD, SAD, SP), paroxetine (SP), sertraline
(GAD), and venlafaxine (GAD) (seeChapter90 for a
general discussion of antidepressants and page 471 for a
discussion of antidepressants and suicidality). Although
previously thought to be effective, anxiolytics such as
benzodiazepines and tricyclic antidepressants such as
imipramine are no longer recommended. The evidence
for the use of pharmacologic treatment for PD and
PTSD remains limited (Masi et al, 2006).
470
Management
Key management strategies for adolescents who present with suicidality include addressing underlying
psychiatric disorders and keeping the adolescents
safe during treatment until their suicidality resolves.
Whether an adolescent who presents with suicidality
is hospitalized will depend on a number of factors.
Table47-9 is a list of considerations that should be
given to the hospitalization of adolescents who present
with suicidality.
Safety Planning
If a clinician decides that a patient does not require hospitalization, a treatment plan for the related psychiatric
disorders must be established as well as a safety plan
for emergency communication in case of worsening
suicidality or the emergence of new crises. The safety
plan should include a list of emergency contacts that
the patients can use if their suicidality worsens or if an
acute crisis arises (Table 47-10). The clinician should
ensure that the information on the list is accurate and
current.
Previously, safety planning frequently included
a contract with the adolescent to not make any attempts. However, no research shows that contracting
471
Antidepressant
Bupropion
Citalopram
Fluoxetine
Fluvoxamine
Mirtazapine
Nefazodone
Paroxetine
Sertraline
Venlafaxine
NE
1.37
1.52
5.52
1.58
NE
2.65
1.48
4.97
*Risk
ratios comparing rates of suicidality in patients treated with antidepressants versus those taking placebo.
considered statistically significant (if 95% confidence interval does not
cross over 1).
NE, no events occurred in either the antidepressant or placebo groups.
Results
Prevention
Prevention of suicide has often been endorsed by clinicians and policy makers alike. Given that most
adolescents who commit suicide have at some point
been diagnosed with an underlying psychiatric disorder, screening directly or indirectly for untreated
psychiatric disorders would be a useful first step. Numerous screening instruments have been developed
for use in the pediatric population. One example is
the Columbia TeenScreen Program, which is used in
school settings in many states in the United States to
assess for psychiatric disorders and suicidality in adolescents. Educational programs for parents, teenagers,
and other adult caregivers of teenagers are essential
to help increase the identification of those who are at
472
Conclusion
Suicide remains one of the leading causes of death in
adolescents, and suicidality, which includes thoughts,
gestures, and attempts, is common in both children and
teens. Clinicians must educate themselves as well as families and patients to develop effective interventions that
are tailored to address the risk factors in each individual
patient. Furthermore, research is needed to address the
lack of effective psychotherapeutic treatments for those
with suicidality.
SUMMARY
Mood and anxiety disorders commonly present in children and adolescents and can lead to significant burden
on patients and families if they are unrecognized and
untreated. Our understanding of these disorders in children and adolescents has greatly improved during the
past few decades and is reflected in the recent changes in
the diagnostic criteria for these disorders.
Accompanying these changes in our understanding
are the advances in treatment. Although these treatments
are generally safe, all treatments have risks and benefits, and clinicians must weigh these for each individual
patient. Furthermore, patients and families need to be
fully informed and become active participants in the
management plan.
Finally, although the diagnostic criteria and treatments of mood and anxiety disorders in children and
adolescents are similar to those used in adults, clinicians
must understand the developmental issues that can influence diagnosis and management in this age group to
effectively manage these disorders.
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American Academy of Child and Adolescent Psychiatry: Practice
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adolescents with depressive disorder. J Am Acad Child Adolesc
Psychiatry 37:1234-1238, 1998.
American Academy of Child and Adolescent Psychiatry: Practice
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American Academy of Child and Adolescent Psychiatry: Practice
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American Academy of Child and Adolescent Psychiatry: Practice
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Beidel DC, Turner SM: Childhood Anxiety Disorders. New York,
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Child Adolesc Psychiatry 35:1110-1119, 1996.
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44:1118-1127, 2005.
Brent DA, Perper JA, Moritz G, et al: Psychiatric risk factors for adolescent suicide: A case-control study. J Am Acad Child Adolesc
Psychiatry 32:521-529, 1993.
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48
SCHIZOPHRENIA, PHOBIAS,
AND OBSESSIVE-COMPULSIVE
DISORDER
Antonio Y. Hardan and Andrew R.
G
ilbert
Vignette
Melinda, a 14-year-old girl living with her biologic parents, was referred by her pediatrician for
a psychiatric evaluation and treatment of unusual behaviors. Melinda had been doing well until
about 6 months before the visit, when her parents noticed a decline in her academic functioning.
Her grades dropped progressively from straight As to mostly Cs and Ds. Family members noticed a
change in her personality. She became irritable with a low level of tolerance for frustration and an
increasing level of social isolation. What triggered the psychiatric evaluation was a phone call from
school describing bizarre behaviors. The teacher reported that Melinda had become afraid that
someone was trying to hurt her. She began talking to herself loudly, making statements about the
devil being after her, and accusing her peers of plotting to kidnap her. The parents stated that they
have not seen these behaviors but admitted being relatively absent from home recently because
of working long hours and being away with travel. Medical, personal, and developmental histories
were unremarkable except for the presence of a paternal uncle who was receiving treatment for
schizophrenia. During the interview, the adolescent was difficult to engage and had made limited
eye contact. At times, she began talking to herself and appeared to be laughing for no apparent
reason. Her affect was irritable, and she refused to answer some questions. She acknowledged feeling
paranoid and talked about aliens trying to poison and hurt her. She also admitted to hearing voices
that made negative comments about her and at times provided a critical commentary on her actions.
She denied any command auditory hallucinations demanding her to perform an act. The primary
care physician called for an urgent visit with a child psychiatrist. At that visit, Melinda was initiated
on 0.5 mg of risperidone for 2 weeks, then 1 mg afterward. During the following few months, her
symptoms improved progressively with a decrease in paranoid delusions and hallucinations; she
appeared much improved at the 6-month follow-up with no psychotic thinking noted.
and collaboration between child psychiatrist and pediatric health care providers.
CHILDHOOD PSYCHOSES
Childhood psychoses are thought disorders characterized by psychotic symptoms or a loss of contact with reality, including changes in the usual patterns of thinking,
perceiving, believing, and behaving. The term thought
disorders, also known as formal thought disorders, is
used to describe a pattern of disordered language use,
which is presumed to reflect disordered thinking. Like
the adult versions, childhood psychoses are frequently
accompanied by delusions and hallucinations. Delusions
are fixed, firm, and false beliefs that are maintained by
the believer despite overwhelming contradictory evidence. Hallucinations are false perceptions of one or
another of the five senses: sight, hearing, taste, touch,
or smell.
A disturbance of thinking is usually considered a
symptom of psychotic mental illness, although it occasionally appears in other conditions. They include
schizophrenia with childhood onset, schizophreniform
disorder, schizoaffective disorder, delusional disorder,
shared psychotic disorder, brief psychotic disorder,
psychotic disorder due to a general medical condition,
substance-induced psychotic disorder, and psychotic
disorder not otherwise specified. Although much more
common in adulthood, thought disorders can have their
onset as early as 5 years of age (Masi et al, 2006).
(frequently auditory hallucinations, such as voices commenting on a persons behavior or two voices having
a conversation). Affect is often blunted or inappropriate, and speech is digressive, vague, circumstantial, or
incoherent (Masi et al, 2006; Schothorst et al, 2006).
Although not definitive, evidence points to continuity between children at risk for schizophrenia, earlyonset schizophrenia, and adult-onset schizophrenia
(Remschmidt and Theisen, 2005).
Developmental Aspects
Symptoms of schizophrenia are sometimes difficult to
identify in children. Children may experience hallucination, delusions, and thought disorder typical of schizophrenia. However, their limited cognitive and language
development and difficulties separating reality from
fantasy make it difficult to apply diagnostic criteria. In
addition, delusions and hallucinations are usually less
complex in children. Interestingly, this pattern of symptoms is usually observed in adult individuals with developmental disorders who develop psychotic symptoms.
As symptoms of psychosis emerge, children with
schizophrenia experience a deterioration of their level
of functioning, or never achieve the expected level of
functioning (American Psychiatric Association, 2000).
Blunted affect and inappropriate laughter are almost
universally present in children with schizophrenia. Auditory and visual hallucinations are frequently reported.
Children might hear several voices making an ongoing
critical commentary or even command hallucinations
telling them to hurt themselves or others. Visual hallucinations are relatively more common in children than
in adults with schizophrenia. They are often frightening,
and children report seeing skeletons, scary individuals,
and the devil. Delusions are observed in more than half
of all children with psychosis, have various themes including persecutory and religious themes, and increase
in frequency with age (Masi et al, 2006; Remschmidt
and Theisen, 2005).
Differential Diagnosis
Schizophrenia must be differentiated from other forms
of psychosis (Table 48-1). Acute psychotic presentation
can be associated with various causes of organic brain
syndrome, including infection, autoimmune phenomena (e.g., lupus, multiple sclerosis), structural lesions,
medications (e.g., steroids), illicit drugs (e.g., PCP), and
metabolic disorders (e.g., Wilson disease or porphyria).
Clinical Characteristics
Schizophreniform disorder
Schizoaffective disorder
Delusional disorder
Brief psychotic disorder
Psychotic disorder due to a general medical condition
Substance-induced psychotic disorder
Psychotic disorder, not otherwise specified
Obsessive-compulsive disorder
475
476
Epidemiology
The prevalence of childhood-onset schizophrenia is not
known, but it is thought to be relatively rare, less than 5
in 10,000 (Remschmidt and Theisen, 2005; Schothorst
et al, 2006). Prevalence rates appear to be greater among
boys, at least in clinically referred cases. In adolescence,
the prevalence is estimated to be 50 times greater than in
younger children, with probable rates of 1 to 2 per 1000.
In contrast, rates are much higher in adults, reaching
1 to 1.5 percent.
Treatment
The first critical step in the pediatric management of
early-onset schizophrenia is its identification. Psychosis and bizarre behavior are not difficult to recognize.
Adolescent patients who refuse to go to school and
seem guarded about their reasons for refusing school
attendance may have paranoid ideation. Schizophrenia
is best managed by a child psychiatrist; however, the
families of such patients require pediatric support, and
the potential medical complications of neuroleptic treatment should be monitored closely (Masi et al, 2006).
Because of the rarity of this condition among youth,
little is known about the optimal treatment of such
patients in childhood and adolescence. Initial studies
have examined the use of typical antipsychotics, such as
haloperidol, but the side effect profile of these medications, including extrapyramidal symptoms and tardive
dyskinesia, has limited their use. Studies have examined
second-generation antipsychotics and have evaluated
their efficacy and safety. Clozapine appears to be the
most effective medication, with two well-designed studies reporting its superiority over haloperidol (Kumra
et al, 1996) and olanzapine (Kumra et al, 2008). Clozapine was superior for relief of both negative and positive symptoms but has the serious side effect of blood
dyscrasia, necessitating careful monitoring for development of this condition. However, clozapine has no
extrapyramidal side effects and presumably has a much
lower risk of tardive dyskinesia.
The advent of second-generation antipsychotics, such
as clozapine, risperidone, olanzapine, quetiapine, ziprasidone, and aripiprazole, has increased the hope of a better treatment of early-onset schizophrenia (Masi et al,
2006). However, the benefits observed from these medications remain limited, and the prognosis is frequently
guarded. Taking into consideration the poor response
observed, psychosocial interventions remain essential.
Psychoeducation and family support are critical to optimize the functioning of the patient and to prevent relapse.
Environmental manipulations, especially in school, are
frequently required to alleviate the social skills deficits,
attentional disturbances, and academic difficulties frequently observed in early-onset schizophrenia.
477
478
Specific Phobia
Phobic disorders are related to avoidance precipitated by certain triggers, such as animals, situations,
or places. Fears are common among children. Among
children aged 7 and 11 years, the prevalence of specific
phobias is approximately 2.4% and 0.9%, respectively
(Anderson et al, 1987; Silverman and Moreno, 2005),
with a marked female preponderance. It is thought that
parental history of anxiety disorder (particularly phobias), anxious temperament, and traumatic occurrences
(e.g., a dog bite, leading to dog phobia) all play a role in
the genesis of phobic disorders.
Many phobic disorders never come to medical attention because those suffering from the disorder can simply
alter their life to avoid contact with the precipitant for
their phobic reactions. However, children with simple
phobia that leads to school avoidance often are referred
for treatment of school refusal. The differentiation
between a fear and phobia is in the degree of anxiety in
response to exposure, the extent of the avoidant behavior, and the concomitant functional impairment. School
phobia may result in the avoidance of school, but the
fear is not related to separation, as in the case of separation anxiety disorder. Behavioral interventions have a
well-documented efficacy in the treatment of phobias.
Such interventions include desensitization through graduated imagined or real exposure.
Social Phobia
Social phobia (SP), also known as social anxiety disorder, is a common anxiety disorder related to excessive
embarrassment and extreme shyness in novel social situations. What differentiates SP from more common shyness is that children and adolescents with SP frequently
avoid situations that they believe to be potentially scrutinizing, such as most social and performance situations
(American Psychiatric Association, 2000). Thus, significant functional impairment characterizes SP.
Clinical Description
Clinical Features
Diagnostic criteria for SP include a persistence of symptoms, characterized by avoidance of novel and public
social situations, for at least 6 months, that are severe
enough to interfere with social adaptation, and these
symptoms must be established across multiple situations (American Psychiatric Association, 2000). One
extreme manifestation of SP in younger children is selective mutism, in which children do not speak in one or
more major social situations when speaking is expected,
despite speaking in other situations. In selective mutism,
patients do not speak for at least 1 month (not limited to
the first month of school) (Leonard and Topol, 1993).
SP frequently emerges during childhood, with a
mean age at onset of approximately 15 years. Parental
or school concerns are the usual cues to the presence
of SP. Children and adolescents with SP will frequently
describe fears related to reading, speaking, eating, or
writing in public. These symptoms can occur in multiple
contexts, usually associated with typical age-appropriate
Developmental Considerations
Although SP is frequently diagnosed during adolescence,
children as young as 8 years have been diagnosed with
the disorder. Younger children may express a phenotype
characterized by greater frequency and severity of tantrums and clingy behaviors, whereas older adolescents
may express more avoidant behavior related to peers
and social situations (Beidel and Turner, 1998).
Differential Diagnosis
The main differential diagnoses include other conditions,
such as mood and anxiety disorders, that interfere with
social relationships. In depression, there may be social
withdrawal, but this is often antedated by satisfactory
social relationships. Schizoid disorder of childhood is
characterized by a lack of interest in social relationships
with strangers, whereas socially phobic children both
desire and fear contact with same-age peers who are not
well known to them. Schizotypal children have evidence
of thought disorder, such as loosening of associations and
magical thinking. Children with autism and pervasive
developmental disorders have disordered social relationships but usually show other stigmata of these disorders,
such as impaired language development, repetitive and
stereotyped patterns of behavior and interests, and difficulty in forming and sustaining social bonds.
Epidemiology
SP is estimated to occur in approximately 1% of children and adolescents. Because of the substantially higher
lifetime prevalence of SP in adulthood (13.3%), SP may
be underdiagnosed in childhood and adolescence, mislabeled as shyness, and this may be due to methodologic factors (Costello et al, 2004; Kessler et al, 1994).
Etiology
There is evidence suggesting that shyness and behavioral inhibition may both constitute risk factors for the
development of SP (Hayward et al, 1998). Although causality cannot be confirmed, studies suggest that classic
conditioning experiences, social learning through modeling, and anxious and controlling parenting styles may all
contribute to the risk for development of SP. Furthermore,
twin studies suggest that shyness, behavioral inhibition,
and SP may be heritable (Chavira and Stein, 2005).
Treatment
Cognitive-behavioral therapy (CBT) has been found to
be effective in the treatment of children and adolescents
with SP (see Chapter 89). Both family-based and group
CBT have also been found to be effective (Mancini et al,
2005). Similarly, pharmacologic agents have been found
to be beneficial. Both placebo-controlled and open-label
studies support the efficacy of selective serotonin reuptake inhibitors in the treatment of SP
(see Chapter 90).
The selective serotonin reuptake inhibitors appear to
reduce the severity of symptoms of SP and are generally
well tolerated (Mancini et al, 2005).
Prognosis
Untreated SP may lead to significant impairment, including underachievement in academics and work as well
as difficulties with relationships (Schneier et al, 1994;
Stein, 1996; Van Ameringen et al, 2003). SP tends to
be chronic, with approximately only 27% of patients
achieving spontaneous remission.
OBSESSIVE-COMPULSIVE DISORDER
OCD is a disabling neuropsychiatric condition characterized by obsessions (recurrent, intrusive thoughts,
ideas, or images) and compulsions (repetitive, ritualistic
behaviors). For patients with OCD, obsessions lead to
substantial anxiety and emotional discomfort, and compulsions are carried out to neutralize the anxiety. Pediat
ric patients with OCD,
Clinical Description
Clinical Presentation
Common obsessions include contamination fears (dirt,
germs, or illness), aggressive/harm obsessions (excessive
worries about danger or catastrophic events, such as
death or illness happening to self or loved ones), separation, hoarding and saving, symmetry/ordering, and
doing things just right. Intrusive sexual thoughts and
religious obsessions are more common in adolescence
than in childhood. Common compulsions are washing, checking, repetitive counting, arranging, touching, and hoarding. At least four symptom dimensions
479
Diagnosis
A clinical diagnosis should include the following: psychiatric interview with the child; interview with parents,
including complete developmental and family history;
symptom rating and monitoring of severity over time
with use of the Childrens Yale-Brown Obsessive Compulsive Scale; review of systems, with special attention to
neurologic and infectious disease signs, symptoms, and
history. OCD symptoms secondary to a recent group A
beta-hemolytic streptococcal infection should always be
ruled out.
Comorbidity
Studies suggest that approximately 80% of children
and adolescents with OCD have at least one comorbid
psychiatric disorder (American Psychiatric Association,
2000). Common comorbid conditions, as described before, include the following: major depression and other
mood disorders; other anxiety disorders; OCD spectrum
disorders; tic disorders; disruptive behavioral disorders,
particularly attention-deficit/hyperactivity disorder and
oppositional defiant disorder; speech/developmental
disabilities; eating disorders; pervasive developmental
disorders.
Developmental Aspects
It can be difficult to separate the symptoms of OCD
from developmentally normal childhood rituals. Superstitious and magical thinking (step on a crack, break
your mothers back) are part of normal development,
frequently appearing around the ages of 5 to 8 years.
In general, these normal thoughts and behaviors do not
lead to the substantial functional impairment or avoidance behaviors characteristic of OCD and other anxiety disorders. Interestingly, there are few differences
between OCD in childhood and adulthood; indeed, the
DSM-IV criteria are the same, although it is noted that
children may have less insight and their symptoms may
be more ego-syntonic.
Although pediatric OCD patients may have less insight than adult patients do, recent factor analytic studies suggest that symptoms of OCD remain temporally
stable throughout childhood and adulthood. The following characteristics of the disorder and findings from
research studies may support a neurodevelopmental
versus acquired degenerative etiopathogenic theory of
OCD: frequent childhood onset; similar presentation
in childhood and adulthood may suggest that the risk
emerges during development; similarity with normal
childhood rituals; high comorbidity with Tourette disorder, which is characterized as a neurodevelopmental disorder; early-onset OCD is more likely to have
a family history; and presence of neurologic soft sign
abnormalities observed at illness onset with absence of
deterioration with illness progression (Rosenberg and
Keshavan, 1998).
480
Differential Diagnosis
Normal developmental rituals can be difficult to distinguish from OCD symptoms in children and adolescents
(Table 48-2). The most important factor in ruling out
normal rituals from OCD is the level of discomfort and
dysfunction that accompanies the thoughts and behaviors. Tourette and tic disorders are frequently comorbid with OCD; although tics may neutralize anxiety,
they are different from compulsions in that they are
not triggered by an obsession (Cohen and Leckman,
1994). Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS)
may represent a subtype of pediatric OCD; however,
PANDAS appear to have a temporal relationship with
the onset of streptococcal infections, have a more sudden and severe onset, and are frequently associated with
tics and abnormal choreiform-like movements (Snider
and Swedo, 2004). OCD spectrum disorders, including
trichotillomania, onychophagia (nail biting), chronic
skin picking, other impulse control disorders, and body
dysmorphic disorder, are often comorbid with OCD but
can also be confused with compulsions (Geller, 2006).
Like tics, many impulse control disorders, such as nail
biting and hair pulling, are anxiety neutralizing but do
not have an obsession attached to them. Body dysmorphic disorder can be very much like OCD; however, the
obsessions and compulsions of the patient with body
dysmorphic disorder are focused on or driven by a specific body region (e.g., nose, teeth, hair). Similar to body
dysmorphic disorder, eating disorders such as anorexia
and bulimia can involve OCD-like symptoms, including
obsessional thoughts and ritualistic behaviors. The focus of eating disorders, however, is on body image and
involves specific eating-related rituals, such as purging
and restricting.
Although primary psychotic disorders are rare in
childhood, early-onset psychosis and prodromal schizophrenia can be characterized by delusions similar to
obsessions. The rule of thumb in distinguishing delusions from obsessions is the level of insight present in
the individual. Furthermore, the delusions and behaviors associated with a primary psychosis are more likely
to be bizarre and accompanied by negative symptoms,
Clinical Characteristics
Transient
Association with tics
History of streptococcal infection
Presence of tissue
damage
Focus on body parts
Presence of hallucinations
and delusions
Early history of social deficits
*Pediatric
such as a blunted affect and isolative behavior. Rumination within depressions may appear to be similar to
obsessions; however, ruminations tend to be characterized by worries about mundane events and conditions
in the individuals life (such as school, friends, and family), whereas obsessions tend to be characterized by specific dimensions, such as contamination, symmetry, and
hoarding. Repetitive rituals and restricted interests characteristic of pervasive developmental disorders, such as
Asperger disorder, can appear similar to obsessions and
compulsions. In general, children and adolescents with
pervasive developmental disorders suggest that they enjoy their repetitive thoughts and ritualistic behaviors
(ego-syntonic), in contrast to children with ego-dystonic
OCD symptoms.
Epidemiology
Estimated prevalence rates of OCD in the pediatric population are between 0.5% and 4%. Studies suggest a
bimodal distribution of inci- dence, with one peak
in childhood and another in adulthood. The mean age
at onset of pediatric OCD is approximately 10.3 years,
and the mean age at assessment is approximately 13.2
years. OCD may occur in children as early as 3 years
of age. Boys tend to have an earlier age at onset than
do girls. The male-to-female ratio is 7:1 for cases with
onset before 10 years and 1:1.5 for onset after puberty;
the average male-to-female ratio in pediatric OCD is
3:2. Mild subclinical obsessions and compulsions are
common in the general population (4% to 19%). Approximately one third to one half of adult OCD cases
have a childhood onset (Flament et al, 1988; Leonard
et al, 2005).
Etiology
The causes of OCD remain to be fully elucidated; however, there are several hypotheses about its etiology
and pathogenesis (Rauch and Jenike, 1993). Because
of the effectiveness of serotonin reuptake inhibitors
in treating OCD, serotonergic abnormalities are potentially involved in the development and expression
of the disorder. OCD is associated with several basal
ganglia illnesses, including tic disorders, Huntington
chorea, and Sydenham chorea; basal ganglia abnormalities in OCD are also supported by neuroimaging
studies. Recent evidence suggests that severe pediatric
OCD symptoms in conjunction with tics and a sudden onset of symptoms may be associated with group
A beta-hemolytic streptococcal infections. A potential
subtype of OCD, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections
(PANDAS), has been described and may be related to
an autoimmune response, similar to what is seen in
Sydenham chorea.
OCD is also highly familial (Nestadt et al, 2000; Pauls
et al, 1995). OCD and subclinical obsessive-compulsive
symptoms are present in 18% to 30% of first-degree
relatives. Relative risk in family members of affected
children is approximately 25% (double that found in
relatives of adult-onset cases). Studies suggest that genetic and nongenetic factors are about equally important in risk for development of OCD.
Treatment
Psychotherapy
Behavioral therapy/cognitive-behavioral therapy (BT/
CBT), involving graded exposure to anxiety-provoking
stimuli and ritualizing prevention, is recommended as a
first-line intervention (OKearney et al, 2006). Augmentation of BT/CBT with medication may lead to better
outcomes compared with medication alone (OKearney
et al, 2006; Pediatric OCD Treatment Study Team,
2004). Family therapy and behavioral family intervention are important and effective approaches that target
the affective and cognitive aspects of the parent-child
relationship as well as the role of the OCD in the family
context (Leonard et al, 2005).
Pharmacotherapy
First-line agents include selective serotonin reuptake inhibitors (fluoxetine, sertraline, fluvoxamine, paroxetine,
citalopram, and escitalopram) and the tricyclic antidepressant clomipramine. Clomipramine, fluoxetine, sertraline, and fluvoxamine are approved by the Food and
Drug Administration for the treatment of OCD in childhood and adolescence. It is generally recommended that
maintenance therapy continue for at least 1 to 2 years
after improvement is observed. Relapses are common,
and long-term treatment is advised after two relapses.
Combination Therapy
Expert consensus guidelines for children and adolescents
with OCD recommend starting treatment with either CBT
or with the combination of CBT and pharmacotherapy
(OKearney et al, 2006; Pediatric OCD Treatment Study
Team, 2004). The decision to use combination therapy
depends on several factors, including the severity of the
OCD and any comorbid conditions, such as mood disorders, that may benefit from pharmacotherapy.
SUMMARY
The dissemination of information on early-onset schizophrenia and severe anxiety disorders to primary care providers is a critical step in optimizing treatment outcomes
of children and adolescents suffering from these conditions. Knowledge about the most commonly observed
signs and symptoms will help clinicians in the early identification of these disorders, leading to adequate referral
and initiation of appropriate interventions.
There is mounting evidence supporting the crucial
role of early intervention in preventing poor outcome
in psychiatric disorders in general and in children and
481
REFERENCES
Albano AM, Chorpita B, Barolo D: Childhood anxiety disorders. In
Mash EJ, Barkley RA (eds): Child Psychopathology. New York,
Guilford, 1996, pp 196-241.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed. Washington, DC, American Psychiatric Association, 1994.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed, text revision. Washington, DC,
American Psychiatric Association, 2000.
Anderson JC, Williams S, McGee R, Silva PA: DSM-III disorders in
preadolescent children. Prevalence in a large sample from the general population. Arch Gen Psychiatry 44:69-76, 1987.
Beidel D, Christ MG, Long PJ: Somatic complaints in anxious children. Abnorm Child Psychol 19:659-670, 1991.
Beidel DC, Turner SM: Shy Children, Phobic Adults: Nature and
Treatment of Social Phobia. Washington, DC, American Psychological Association, 1998.
Beidel DC, Turner SM, Fink CM: Assessment of childhood social
phobia: Construct, convergent and discriminative validity of the
Social Phobia and Anxiety Inventory for Children. Psychol Assess
8:235-240, 1996.
Beidel D, Turner SM, Morris T: Psychopathology of childhood social
phobia. J Am Acad Child Adolesc Psychiatry 38:643-650, 1999.
Chavira DA, Stein MB: Childhood social anxiety disorder: From understanding to treatment. Child Adolesc Psychiatr Clin North Am
14:797-818, 2005.
Cohen DJ, Leckman JF: Developmental psychopathology and neurobiology of Tourettes syndrome. J Am Acad Child Adolesc Psychiatry 33:2-15, 1994.
Cornblatt BA: The New York high risk project to the Hillside recognition
and prevention (RAP) program. Am J Med Genet 114:956-966,
2002.
Costello EJ, Egger HL, Angold A: Developmental epidemiology of
anxiety disorders. In Ollendick TH, March JS (eds): Phobic and
Anxiety Disorders in Children and Adolescents. New York, Oxford
University Press, 2004, pp 61-91.
Coyle JT: Drug treatment of anxiety disorder in children. N Engl J
Med 344:1226-1227, 2001.
482
49
BEHAVIORAL CHALLENGES
AND MENTAL DISORDERS
IN CHILDREN AND
ADOLESCENTS WITH
INTELLECTUAL DISABILITY
Ludwik S. Szymanski
Vignette
A young man, 17 years of age, with moderate cognitive impairment due to the fragile X syndrome
was referred to a child and adolescent psychiatrist because of aggressive behavior. He attended a
special education class and had been doing very well at school until a week before the referral, when
he attacked his gym teacher. The history clarified that he became embarrassed because she demanded
that he jump rope, an activity that is very difficult for him. When she prompted him physically, he
pushed her away. This push was interpreted as aggression. Male teachers were called, who restrained
him on the floor. After that, he started to believe that the teachers restrained him to rape him and that
music broadcast at the school had coded messages to that effect. The mental health team made a
diagnosis of a brief psychotic disorder. He was treated with antipsychotic medication and supportive
therapy. Within 2 months, he recovered completely.
EPIDEMIOLOGY
It is now generally agreed that the prevalence of mental
disorders in people with ID is higher than that in the
comparable population without such disability, even
as high as 64% (Bregman, 1991). All types of mental
disorders have been described, and there is no evidence
of occurrence of disorders unique to this population.
In a more recent study of a population-based cohort,
42% of the children with severe ID and 33% of those
with mild ID had psychiatric diagnosis (Strmme and
Diseth, 2000). Interestingly, only one third of them were
seen previously by a child psychiatrist. It is postulated
that the increased prevalence of psychiatric disorders in
this population is related to several factors, including
483
484
DIAGNOSTIC CONSIDERATIONS
Children and adolescents who have ID often have other
disabilities as well. Both the primary and associated dis-
orders may contribute to their behavioral difficulties.
Thus, the assessment should not be limited to providing
a formal psychiatric label and coding but should be
comprehensive, based on biopsychosocial principles.
The most recent classification manual of the American
Association on Intellectual and Developmental Dis-
ability (2002; previous name: American Association
on Mental Retardation) specifies a multidimensional
approach to ID. The dimensions are intellectual abilities,
adaptive behavior, participation, interaction and
social roles, health (physical and mental), and context
(environments and culture). This schema is a useful
guide for mental health assessment. The diagnostic as-
sessment should include description of the clinical pre-
sentation justifying the diagnosis, the patients strengths
and liabilities, and comprehensive recommendations.
A generic diagnosis, such as aggression, is usually not
sufficient. Aggressive behavior is a symptom that might
be associated with depression, psychosis, or personality
disorder as well as with environmental factors, such as
inappropriate educational placement and inappropriate
care. Each of these different potential causes would
require different interventions (Szymanski et al, 1998).
For instance, an aggressive youngster with ID who is in a
behavioral program because of attention getting may
actually have an underlying psychotic disorder; another
youth with superficially similar symptoms and treated
with an antipsychotic drug might not have a psychotic
illness but may be reacting to an inappropriate educa-
tional placement.
History
The clinical assessment is done in the context of the
total clinical picture, including developmental levels in
various domains, associated disabilities, and psycho-
social factors. Detailed history is essential, beyond the
standard chief concern, history of present concern, and
Comments
Disruptive
behaviors
Aggressive
behaviors
Self-destructive
and stereotypic
behaviors
Depressed
mood
Social adaptation
problems
Developmental
delay
Bizarreness
Second opinion
Clinical Interview
The clinical interview with the patient is essential. It
includes not just verbal interview but observation of a
childs behavior and interaction with parents and peers
in the waiting room, where one may in fact obtain
more information than through an interrogation of a
frightened child in the examining room (Table 49-3). The
clinician should avoid starting with a barrage of questions
or superficial reassurances but should spend some time
in a low-key, supportive interaction, trying to establish
a relationship with the patient. The level and quality of a
childs communication patterns should be assessed, such
as by watching how the child communicates with the
parents. With verbal children, an interview conducted in
a supportive, friendly manner, with some directiveness
Chapter 49 Behavioral Challenges and Mental Disorders in Children and Adolescents with Intellectual Disability
Caregivers
expectations
of this referral
Management of
the problems
so far
Past history
Environmentalpsychosocial
history
Childs personal
characteristics
Family and
caregivers
Psychiatric
review of
systems
Suggestions of
past abuse
485
Language skills
Interview
486
Psychotic Disorders
The prevalence of schizophrenia (in adults with ID) is
thought to be 1% to 3% (Reiss, 1994). Schizophrenia
and other psychotic disorders may be difficult to diag-
nose accurately in individuals who have significant ID
because in the absence of language, recognition of hal-
lucinations, delusions, and thought disorder may not be
possible. In such patients, the less specific diagnosis of
undifferentiated schizophrenia or psychotic disorder not
otherwise specified might have to be made on the basis
of behavioral changes compared with premorbid behav-
ior. In particular, the appearance of symptoms of social
or affective withdrawal, bizarre behaviors not seen be-
fore, and deterioration in the level of functioning may
suggest such a diagnosis. On the other hand, psychosis
should not be diagnosed in a person with significant ID
merely on the basis of self-stimulatory or aggressive be-
havior. In children and adolescents who have 22q11.2
deletion syndrome (which may also be associated with
ID), there is an increased prevalence of psychosis and
psychotic symptoms (26.7%) as well as autism spectrum
disorders (50%) (Vorstman et al, 2006).
Mood Disorders
It is now well accepted that all forms of mood disorders
can be seen in individuals with ID. There have even
been reports of depression in persons with Down
syndrome, who are usually consi-dered happy and
social (Szymanski and Biederman, 1984). Suicide of
individuals with ID has been described. The diagnosis
of depression in this population is often missed.
Individuals who are depressed are often ignored
because they may be quiet and may not disturb their
caregivers. The clinical manifestations of the disorder
may be modified by a persons level of cognitive skills,
language, and experiences. As with psychoses, verbal
productions cannot be used to assess the affective state
if the individual has limited or no language. However,
most of the diagnostic criteria for mood disorders
in the DSM-IV-TR can be satisfied on the basis of
observations made by others (such as caregivers). These
include observations of vegetative signs (sleeping and
Chapter 49 Behavioral Challenges and Mental Disorders in Children and Adolescents with Intellectual Disability
TREATMENT
Prerequisite:
diagnostic
assessment
Coordinated
treatment
planning
Environmental
supports
Least intrusive
measures
Multimodal
treatment
Treatment Planning
Clinicians should resist the temptations and pressure to
immediately prescribe something to take the edge off
challenging behaviors before the total clinical picture
and potentially explanatory factors involved are under-
stood. The first step is, of course, assessment of imme-
diate safety of the patient and others and, if necessary,
implementation of measures to ensure safety, which
may include close supervision, medication, and hospi-
talization. The general principles of treatment planning
are delineated in Table 49-4.
487
Goal-oriented
treatment
Patients and
caregivers
collaboration
Follow-up
Evidence-based
treatment
Legal and
ethical issues
Psychotropic Drugs
The use of these drugs is described in detail in Chapter
90. In using these drugs, physicians must follow the same
principles of evidence-based treatment as they would
with patients who do not have ID. They should be used
in a lowest effective dose and follow-up data should
prove their effectiveness. A Christmas tree treatment
model should be avoided (adding one drug after another
if the previous one is not effective, rather than discontin-
uing the ineffective one), unless a combination is clearly
proved to be effective. These drugs should be prescribed
(as any other drug is) by a physician who is thoroughly
familiar with them. They should be a part of a com-
prehensive treatment program, not a substitute for it.
Various treatment modalities, such as psychotherapy,
milieu therapy, and behavior modification, have a syn-
ergistic effect with the medications. As much as possible,
these drugs should be used for their designated action in
specific disorders. For example, antipsychotics should be
used primarily for treatment of psychotic disorder and
488
SUMMARY
Behavioral problems are one of the most frequent fac-
tors, if not the most frequent one, preventing children
and adolescents who have ID from functioning accord-
ing to their abilities. They are at increased risk for men-
tal disorders. The prevalence of psychopathology in this
population has been reported to be as high as 64%. The
diagnostic process is similar to the evaluation of children
who do not have ID, but it may have to be modified ac-
cording to the childs developmental level, particularly
in the area of communication skills. Also, the treatment
measures are the same as with children and adolescents
without ID. Comprehensive diagnostic assessment is a
prerequisite to treatment. Referral for child psychiatric
consultation is indicated if the childs disturbance is per-
vasive, there is a potential for danger to the child or
others, and first-line treatment by a nonpsychiatrist has
not been successful.
Chapter 49 Behavioral Challenges and Mental Disorders in Children and Adolescents with Intellectual Disability
REFERENCES
American Academy of Child and Adolescent Psychiatry: Practice
parameters for the assessment and treatment of children, adoles-
cents, and adults with mental retardation and comorbid mental
disorders. J Am Acad Child Adolesc Psychiatry 33(Suppl):12,
1999.
American Association on Mental Retardation: Mental Retardation:
Definition, Classification, and Systems of Supports, 10th ed.
Washington, DC, American Association on Mental Retardation,
2002.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed, text revision. Washington, DC,
American Psychiatric Association, 2000.
Bregman J: Current developments in the understanding of intellectual
disability. Part II: Psychopathology. J Am Acad Child Adolesc
Psychiatry 30:861, 1991.
Dykens EM: Annotation: Psychopathology in children with intellectual
disability. J Child Psychol Psychiatry 41:407-417, 2000.
Harris JC: Intellectual Disability. Oxford, UK, Oxford University
Press, 2006.
Prout HT, Nowak-Drabik KM: Psychotherapy with persons who have
mental retardation. An evaluation of effectiveness. Am J Ment
Retard 108:82-93, 2003.
Reiss S: Handbook of Challenging Behavior: Mental Health Aspects of
Intellectual Disability. Worthington, OH, IDS Publishing, 1994.
Reiss S, Aman MG: Psychotropic Medications and Developmental
Disabilities: The International Consensus Textbook. Columbus,
OH, Ohio State University, 1998.
489
SECTION D
Coping/Problem Solving
50 COPING STRATEGIES
Olle Jane Z. Sahler and John E. Carr
Vignette
The mother of a 5-year-old diagnosed with acute lymphoblastic leukemia seeks help because her son
has received considerable attention to help him cope with his illness, including music therapy to help
with procedural pain. Now she realizes that she needs a strategy to help her cope because his behavior
is terrible. Appropriate in a case such as this one is the paradigm of problem solving skills training:
Identify the problem, Determine options, Evaluate and choose the best, Act, and See if it worked.
The mother reports that when her son is receiving high-dose steroids every 3 weeks, he has
uncontrollable tantrums, hits his 2-year-old sister, and sleeps poorly. Reducing the dose is not
possible.
I. She identifies poor sleeping as the main issue because she believes he would be less irritable if
he slept more. However, since he became ill, he sleeps in the parents room on a cot. The boy wakes up
and stays awake for hours when they try to go to bed.
D. As options, she lists (1) giving him sleeping medication, (2) parents going to sleep at his bedtime,
and (3) returning him to his own room. She really wants to return her son to his own bed. Past
attempts have resulted in all-night screaming episodes.
E. She thinks she will be more successful if she makes the change during a non-steroid week.
She remembers that he has told her he is scared. She develops a plan to take him to the store to
purchase a very special night-light for his own room. She also recognizes that her concern about the
nighttime battle makes her feel anxious and is probably making him more hyper.
When steroids have been discontinued for 2 days and he is entering the 12 days of his cycle when
his behavior is most manageable, she discusses his sleeping in his room after having a bath and
reading stories beginning the following night.
A. She and her son shop for the night-light. The next evening, she gives him a leisurely bath. He
then plugs in the light, has a story, and goes to sleep at 8 pm.
S. He wakes up at 11 pm when his parents are getting ready to go to bed and wants to sleep on
the cot. She holds firm with the plan, and although the scene repeats for the next 2 nights, on the
third night he stays in his room.
492
PSYCHOLOGICAL CONSEQUENCES
Chronic stress, which induces continued emotional
arousal, can result in chronic anticipatory anxiety, a
learned sensitivity to fear-inducing situations. Similarly,
WHAT IS COPING?
Websters dictionary defines coping as overcoming
problems and difficulties. A related definition that helps
describe how this overcoming might be accomplished is
shaping or conforming, especially conforming to the
shape of another. Thus, coping can be thought of as
altering some part of oneself to maintain homeostasis,
balance, or equilibrium between excessive demands and
inadequate resources (Lazarus and Folkman, 1984).
Coping can be adaptive when the alterations (modifications, pliability) allow the individual to fit better with
environmental conditions, resulting in stress-related
growth or at least maintenance of the integrity of the
individual. Coping can also be maladaptive, resulting in
a poorer environmental fit or injury to or even destruction of the individual.
Helping professionals often want to assist children
and their families in coping with stress. However, prescribing instruction in empirically supported coping
strategies will not resolve the adaptive crises of every
child for several reasons (Somerfield and McCrae, 2000):
(1)some people are near their adaptive capacity; (2) not
all stresses can be dealt with by an individual or the family
and must be addressed by social or organizational-level
coping strategies; and (3) temperament (see Chapter 7)
and personality differences influence how effectively
new coping strategies can be adopted. Temperament or
personality style, which is not easily changed, may be
a stumbling block to successful adaptation (e.g., a person who is anxious will find it difficult to relax, a person who is highly dependent will find it very difficult to
make decisions about next steps). Fortunately, learned
optimism (versus learned helplessness as described
earlier) is possible (Shatte et al, 1999).
Resiliency
Resiliency is the ability to cope with (face, overcome, be
strengthened by) adversity. Initially, children and young
people are naturally resilient because they have little experience with the negative consequences of certain situations or activities and believe they have some (magical)
control over what happens (egocentrism). Resiliency
comes from what the child has (external resources) and
who the child is and what the child can do (internal resources). It is possible to build resiliency by increasing
either external or internal resources. External resources
include people who are trustworthy, structures and
boundaries that provide safety, role models, and encouragement to be autonomous. Internal resources include
the ability to see themselves as lovable and appealing, to
do kind things for others, to be proud of themselves, to
communicate effectively, to solve problems, to manage
feelings and impulses, to be empathetic, and to establish
trusting relationships. Parents help children build resiliency by providing a safe and nurturing environment,
spending time with the child, and allowing the child to
make mistakes and to learn constructively from them.
493
Passive Coping
Gathering information
Securing social support
Prioritizing tasks
Turning to religion
Requesting and accepting help from
family and friends
Active distraction
Biofeedback
Problem solving
Distraction by others
494
BIOFEEDBACK
Biofeedback is a type of applied psychophysiology.
Olson (1995) offers the following comprehensive
definition:
As a process, applied biofeedback is (1) a group of
therapeutic procedures that (2) utilizes electronic
or electromechanical instruments (3) to accurately measure, process, and feed back to persons
(4) information with reinforcing properties (5) about
their neuromuscular and autonomic activity, both
normal and abnormal, (6) in the form of analogue
or binary, auditory and/or visual feedback signals.
(7) Best achieved with a competent biofeedback professional, (8) the objectives are to help persons develop greater awareness and voluntary control over
their physiological processes that are otherwise outside awareness and/or under less voluntary control,
(9) by first controlling the external signal, (10) and
then with internal psychophysiological cues.
Chapter 46 discusses biofeedback in the context of selfcontrol and self-regulation.
Biofeedback can involve measurement of physiologic
parameters such as, among others, heart rate, respiratory rate, skin conductance, blood pressure, and brain
wave activity. See Chapter 46 for details. A commonly
used physiologic measure to monitor degree of relaxation is finger temperature (thermal biofeedback). As an
individual enters into the relaxed state, the temperature
of the fingers increases. By using a sensor attached to
a transducer that feeds a graphic representation on the
computer screen, the patient can watch variations in finger temperature in response to different thoughts, imaginings, or breathing patterns.
Initially, patients typically experience performance anxiety. (This should be easy. . . . Why is my
t emperature going down?) Most will then report deciding that they dont care, at which point they begin
to relax and their temperature begins to rise. The most
important part of the exercise is review of the report
screen, which graphs the rise and fall of temperature
over time, and they are asked to recall what they were
thinking about or what changes in breathing they tried.
This review of their conscious efforts to relax is the distinguishing factor of biofeedback from other types of
relaxation exercises, such as self-hypnosis and guided
imagery. With practice, patients are able to move into
the relaxed state within a few seconds, and temperature
rises during a 10-minute period increase from a degree
or less to as much as 10 to 12 degrees. Direct visualization of the benefits of entering into the relaxed state
can be used to abort chronic pain episodes by having
the patient learn to move into relaxation as soon as the
symptom begins. The basic principles of the fight-orflight response provide explanations for why abdominal pain (decreased splanchnic perfusion) and headache
(increased perfusion accompanied by throbbing) would
be ameliorated by relaxation. If the patient is motivated
to get better, straightforward reliance on biofeedback is
often sufficient. If the patient is deriving significant secondary gain from the symptom, formal psychotherapy
or pharmacotherapy may be required as well.
495
Identify
Get the
facts
See
Revise/
redo
Keep it
simple
Optimism
Did it
work?
Just
do it
Define
Brainstorm
Strategize
Balance
costs &
benefits
Pick
the best
Evaluate
Act
496
SUMMARY
Coping is the action taken by a person confronted with
a stressor to return to a state of homeostasis. Coping
skill is the marriage of style and strategy. Most coping
is active and requires the individual to participate in altering either the situation or his or her perception of it.
Avoidance is sometimes the most appropriate solution.
Children learn how to cope with the stresses in their environment from the people who are in that environment.
Coping strategies can also be taught formally. Cognitive
understanding of autonomic and automatic physiologic
responses is brought under conscious control through
the mechanism of feeding back information about
physiologic state. The skills to formally appraise a problem, to generate multiple solutions, to choose the best
for that particular individual, and then to determine if
the solution was successful or requires refinement have
the power to reduce such potentially devastating states
as depression and anxiety.
REFERENCES
American Music Therapy Association: What is music therapy? 2005.
Available at: http://www.musictherapy.org/faqs.html#WHAT_IS_
MUSIC_THERAPY.
Burke P, Elliott M: Depression in pediatric chronic illness: A diathesisstress model. Psychosomatics 40:5-17, 1999.
Carr JE, Kappes BM: Stress, adaption, and illness. In Sahler OJZ,
Carr JE (eds): The Behavioral Sciences and Health Care, 2nd ed.
Gttingen, Germany, Hogrefe & Huber, 2007, pp 55-62.
Carr JE, Sawchuk CN, Nunes J: Learning processes. In Sahler OJZ,
Carr JE (eds): The Behavioral Sciences and Health Care, 2nd ed.
Gttingen, Germany, Hogrefe & Huber, 2007, pp 63-72.
DZurilla TJ, Nezu AM: Problem-Solving Therapy: A Social Competence Approach to Clinical Intervention, 2nd ed. New York,
Springer, 1999.
Katz ER, Varni JW: Social support and social cognitive problem solving in children. Cancer 71:3314-3319, 1993.
Kazak AE, Penati B, Boyer BA, et al: A randomized controlled prospective outcome study of a psychological and pharmacological
intervention protocol for procedural distress in pediatric leukemia.
J Pediatr Psychol 21:615-631, 1996.
Lazarus R, Folkman S: Stress, Appraisal and Coping. New York,
Springer, 1984.
Mahajan L, Wyllie R, Steffen R, et al: The effects of a psychological
preparation program on anxiety in children and adolescents undergoing gastrointestinal endoscopy. J Pediatr Gastroenterol Nutr
27:161-165, 1998.
Olson RP: Definitions of biofeedback and applied psychophysiology.
In Schwartz MS (ed): Biofeedback: A Practitioners Guide, 2nd ed.
New York, Guilford, 1995, pp 27-31.
Sahler OJ, Fairclough DL, Phipps S, et al: Using problem-solving skills
training to reduce negative affectivity in mothers of children with
newly diagnosed cancer: Report of a multisite randomized trial.
J Consult Clin Psychol 73:272-283, 2005.
Sahler OJZ, Hunter BC, Oliva R, et al: Music therapy as procedural
support during botulinum toxin injections. Abstract. Pediatr Res
55:87A, 2004.
Sahler OJ, Varni JW, Fairclough DL, et al: Problem-solving skills
training for mothers of children with newly diagnosed cancer:
A randomized trial. J Dev Behav Pediatr 23:77-86, 2002.
Schiff WB, Holtz KD, Peterson N, Rakusan T: Effect of an intervention to reduce procedural pain and distress for children with HIV
infection. J Pediatr Psychol 26:417-427, 2001.
Shatte AJ, Reivich K, Gillham JE, Seligman MEP: Learned optimism
in children. In Snyder CR (ed): Coping: The Psychology of What
Works. New York, Oxford University Press, 1999, pp 165-181.
Somerfield MR, McCrae RR: Stress and coping research: Methodological challenges, theoretical advances, and clinical applications.
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Varni JW, Katz ER, Colegrove R Jr, Dolgin M: The impact of social
skills training on the adjustment of children with newly diagnosed
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Varni JW, Katz ER, Colegrove R Jr, Dolgin M: Perceived social support and adjustment of children with newly diagnosed cancer.
J Dev Behav Pediatr 15:20-26, 1994.
Walco GA, Conte PM, Labay LE, et al: Procedural distress in children
with cancer: Self-report, behavioral observations, and physiological parameters. Clin J Pain 21:484-490, 2005.
Part VI
oUTCOMESSCHOOL
FUNCTION AND OTHER
TASK PERFORMANCE
Vignette
Alice, an 8-year-old third-grade student in an upper middle class public school, gets along very
well with all the other children in her class and her teacher. Alices parents are concerned about her
classroom achievement. Her teacher had Alices older sister as a student and she also wonders at
the difference in the two girls with respect to their academic attainment. Alices sister consistently
mastered every classroom task with little effort and good humor. Alice has a similar sunny disposition,
but her performance usually falls in the lower range of mid-average. Alices parents, both attorneys,
requested a conference, and the three adults could not find a logical reason for this discrepancy
between the two siblings. Why dont you discuss this with Alices pediatrician and see if there might
be a medical reason for Alices apparent underachievement? suggested the teacher.
498
Society
Family
Economic
Political
Achievement
Societal
Factors
Child
Cultural
Religious
SOCIETAL FACTORS
Within each community, there are economic, political,
cultural, and even religious influences on the educational
system offered (Fig. 51-2). Whereas there are national
federal mandates, control of local schools often is left to
local officials with state oversight. This can create pock-
ets of inequality as more affluent communities may be
able to provide, and expect, more diversity of resources
and experiences for their children. Communities with
larger tax bases can support larger school budgets.
Teacher salaries may be greater, schools may be bet-
ter maintained, and perishable goods such as books,
computers and software, and CD-ROMS may be more
easily updated. Innovative programs may be explored as
school personnel are able to attend professional trainings
to learn about these offerings. Conversely, communities
with fewer economic resources may not be able to attract
teachers with advanced skills, more experience, or pro-
fessional choices. There may be inadequate or outdated
textbooks, fewer supplemental classes, and less ability to
address individual student differences as completely.
Often interwoven with the economic forces are politi-
cal agendas. Although a community may need a larger
budget for school use, local politicians may be reluctant to
promote tax increases. Their personal professional agen-
das may directly compete with school needs. Overarching
local concerns may be a higher influence on curriculum
because certain topics may be considered inappropriate.
Restricting books in the school libraries is one example
of this. Curriculum control is sometimes used as a means
of inserting political influence in school policies.
Cultural and frequently associated religious influ-
ences can be subtle when the school is located in a geo-
graphic region populated by a preponderance of families
from a particular ethnic group with specific cultural
heritage and religious beliefs. If the majority believe a
certain way, there is an assumption the schools will fol-
low suit. If, however, there are many religions repre-
sented in the families, more strident and vocal groups
may exert undue influence, and dissention from the oth-
ers may follow. The dictum separation of church and
state is sometimes difficult to follow when community
FAMILY FACTORS
Families are the first communities of which children are
members. It is safe to say that at this time (early 21st
century), there are no typical families (see Chapter 9).
Children may live with birth parents, adoptive parents,
grandparents, other relatives, single parents, parents
who are married but do not live together, same-sex
parents, or foster parents, or they may be truly raised
by paid caretakers while their actual parents are fre-
quently absent. These arrangements may be variably
Community
acceptance
Performance
expectation
Family
Factors
Family
culture
Parental
academic
abilities
499
THE CHILD
Children are products of their families and the larger
community, but foremost, each has a unique pro-
file of strengths and weaknesses (Fig. 51-4). Whereas
500
Cognition
Developmental
skills
Child
Factors
Desires
education
Resilience
Genetic Elements
Certain genetic disorders have identified cognitive pat-
terns clearly affecting a childs ability to master new
information. Many of these conditions (e.g., trisomy 21,
fragile X and other expansion disorders) have variable
expression in the child, and early intervention can fre-
quently be associated with relatively optimal school per-
formance. Careful family history can alert the clinician to
assess the infant for any physical features suggesting par-
ticular inheritance or supplemental newborn screening.
Prompt referral as soon as physical signs are identified can
result in appropriate referral for supportive developmen-
tal interventions and family advocacy. Malformations
may suggest syndromes with subsequent developmental
and cognitive effects (e.g., velocardiofacial syndrome).
Prenatal Factors
Maternal and paternal age at conception, maternal hab-
its such as alcohol use and cigarette smoking, maternal
hypertension during pregnancy, and other indicators
501
Table 51-1. Topics Related to School Achievement: What May Be Discussed at Anticipatory Care Visits
Age
Considerations
Infant
Genetic elements
Cognitive
Fragile X
Trisomy 21
Malformations
Velocardiofacial
Prenatal factors
Parent age at conception
Alcohol or tobacco use
Hypertension during pregnancy
Birth and perinatal events
Intraventricular hemorrhage
Secondary visual impairments
Central nervous system infections
Child
Formal developmental screening
Months 9, 18, and 30 or 36
New concerns by family or physician
Regular developmental surveillance
Parent
Maternal postpartum depression
Referral to mental health programs
Surveillance of family wellness
Parental literacy
Referral to adult literacy groups
Child
Continue formal developmental
screening
Continue developmental surveillance
Interaction with same-age children
Independent play
Sustained interest
Interactive conversations with adults
Variety of activities
Parent
Discussion about early education
Family ambitions
Community pressures
Mistaken ideas
Parent
Community expectations
Family history
Childs characteristics
Parents personal school experiences
Child
Factors affecting standardized test
performance
Personal characteristics
Physical
Sensory deficits
Medical conditions
Motor skills
Neuropsychological
Attention
Memory
Reasoning
Language
Comprehension
Temperament
Stress and frustration
management
Emotional
Previously diagnosed mental
health conditions
Birth3 years
3 yearskindergarten
entry
Kindergarten entry
Early elementary
years (grades 1-3)
Age
Later elementary
years
Middle school
High school
Post-secondary edu-
cation/vocational
training
Considerations
School
Resources
Facility conditions
Student-teacher temperament
synchrony
Home
Learning atmosphere
Educational support
Daily routine
Parent and child expectations
Peers
Acceptance in social group
Peer attitudes toward achievement
Parent
Review and explain testing reports
Childcontinue developmental
surveillance
Independence
Initiates parental involvement
Turns in assignments
Asks specific questions to facilitate
learning
Cognitive changes
Reading at appropriate grade level
Understanding peer humor
Peer influence
Social hierarchies
Attitudes toward academic
achievement
Differences in physical development
Strengths and weaknesses
identification
Observation in the examination room
Noting examples of stronger
functioning by parents
Parent
Encouragement toward independence
Child and school
Chronic illness
Educational and cognitive aspects
Current research
Effects of treatment
Use of offered accommodations
School personnel support
Peer acceptance
Parent
Emphasize need for autonomy and
individuation
Contact school
Suggest classroom modifications
Adolescent
Identification of personal areas of
strength
Facilitate communication between child
and parent
Parent
Unresolved need for success
Young adult
If previously received supplemental
services: apprenticeships
502
Kindergarten Entry
The kindergarten physical examination appointment
is often a well-attended visit because many school sys-
tems demand a school form completed by a physician.
The pediatrician can be very helpful in providing some
common-sense anticipatory suggestions. Regular bed-
times, breakfast in the morning, time for exercise after
school, and time and place for homework completion
should be emphasized. With respect to parenting, maybe
the most important suggestion is to develop the habit of
praising the childs efforts and not the outcome. This
is very important as reading and written expression of-
ten require repeated attempts to master a subskill, and
children may become tired and want to give up their at-
tempts. They need to know that their parents appreciate
and value the hard work they are showing as they work
to master these skills.
Parents may quickly perceive that the kindergarten
their child is attending is much different from the
experience they had as 5-year-olds. Adults inspecting
kindergarten curriculum may have the sense We arent
in Kansas anymore, Toto! As elementary curricula seem
to move more quickly and encourage the acquisition of
more complex skills at a younger and younger level,
skills that were once the purview of first grade are now
expected by the end of the kindergarten year. Some par-
ents, sensing the intensity of the kindergarten curriculum,
want the pediatricians advice about not having the child
enter kindergarten when the fifth birthday is reached.
Other parents may allow matriculation but then want
to retain the child for a second year of kindergarten for
maturing purposes. Again, the community expecta-
tions, the familys history, and the childs characteristics
all must be considered. This is another excellent time for
a thoughtful explication of the parents personal school
experiences and an emphasis on their decision making
rather than taking the pediatricians expert opinion.
503
Environmental Factors
School
Resources available for teaching and learning content:
teacher qualifications; current resources for content (books,
computers, consultants)
Physical building conditions
Temperament synchrony between the student and teacher
Home
Availability for supplemental learning opportunities provided
in the home
Support for consistent and complete homework mastery
Predictable daily routine, including meals, physical exercise,
and adequate sleep
Good fit between parents and childs expectations for
school performance
Peers
Childs acceptance by peers in the social group
Peer attitudes toward school and academic achievement
504
Middle School
The middle-school years can be a maelstrom for children,
parents, and school personnel. All the issues described
for the late elementary school-age child are present and
made even more dramatic by the physical and cognitive
changes experienced by young adolescents. Puberty en-
compasses the physical and sexual changes; adolescence
demonstrates the enduring psychosocial and learning/
cognitive transitions between childhood and adult life.
The content demands of middle-school subjects increase
also, and concomitantly supports offered in the elemen-
tary schools seem to fade. More is expected in the abil-
ity to organize their assignments, to maintain prolonged
focused attention, to understand increasingly more con-
ceptual and higher order language, and quickly to shift
topics as they transition between classes and people with
whom they interact. This appears to be true for both those
High School
High school may begin in either the ninth or tenth grade,
but high school is clearly different from all other school
experiences, as parents and teachers remind the students
that high-school grades count. These are the courses
and grades the colleges, technical schools, and special-
ized vocational programs will use to determine eligibility
after the senior year. If you ask middle-class ninth-grade
students what they plan to do after high school, most
will give an answer including further education. It is
important to try to ensure that all students leaving high
505
SUMMARY
School performance is a multifaceted marker of a childs
development, and pediatricians can make significant con-
tributions to helping the child be as successful as he or she
is capable. Knowledge of the community characteristics,
the family background, and the childs individual
physical, developmental, and emotional strengths and
weaknesses places the pediatrician in a position to help
guide the child through preschool programs all the way
to high-school graduation. Actively soliciting informa-
tion at all appointments about school performance and
showing a genuine interest in mastery of educational
tasks demonstrate the pediatricians desire to be a part-
ner with the child and family in their common goal of
helping the child manage the academic challenges as the
child develops physically, emotionally, and socially.
REFERENCES
American Academy of Pediatrics: Identifying infants and young children
with developmental disorders in the medical home: An algorithm
for developmental surveillance and screening. Pediatrics 118:405420, 2006.
Brown RT (ed): Cognitive Aspects of Chronic Illness in Children. New
York, Guilford, 1999.
Leonard LB: Children with Specific Language Impairment. Cambridge,
Mass, MIT Press, 1998.
Levine MD: Educational Care. Cambridge, MA, Educator Publishing
Service, 2002.
Lezak MD, Howieson DB, Loring DW, Hannay HJ: Neuropsycho-
logical Assessment, 4th ed. New York, Oxford University Press,
2004.
Sattler JM: Assessment of Children, Revised and Updated, 3d ed. San
Diego
, Jerome M.
Sattler
, Publisher, 1992.
Waber DP, De Moor C, Forbes PW, et al: The NIH MRI study of
normal brain development: Performance of a population based
sample of healthy children aged 6 to 18 years on a neuropsycho-
logical battery. J Int Neuropsychol Soc 13:729, 2007.
Wehman P: Life Beyond the Classroom: Transition Strategies for
Young People with Disabilities, 3rd ed. Baltimore, MD, Paul
Brookes, 2001.
Williams J, ODonovan MC: The genetics of developmental dyslexia.
Eur J Hum Genet 14:681, 2006.
Wodrich DL: Childrens Psychological Testing: A Guide for Nonpsy-
chologists. Baltimore, MD, Paul Brookes, 1997.
52
Children who are gifted compose 5% to 20% of the general school-age population, depending on how gifted
is defined or the criteria used to identify students who
are gifted (Pfeiffer and Stocking, 2000). Primary care
physicians may be the first line of professionals consulted by parents of gifted children. Is my preschooler
gifted? How can I nurture my childs talents? What is
the best educational setting for my gifted child? Why is
my child not achieving at a level consistent with his or
her high ability? Primary care physicians are frequently
placed in the position of assisting parents with answers
to these questions and directing them to appropriate resources and educational opportunities. The following
summary of the current research on identification of,
appropriate educational programming for, and special
challenges faced by children who are gifted is provided
as a resource for the primary care provider.
DEFINITIONS OF GIFTEDNESS
Gifted means different things to different people in
different contexts and cultures. Some equate gifted with
high intelligence, others with high academic achievement.
Still others highlight the domain-specific mastery characteristic, for example, of musically or artistically gifted
individuals. What constitutes giftedness in terms of cognitive abilities, talents, personality traits, or environmental contributions is the source of ongoing investigation
and public debate. Researchers and educators alike differ
in how they define giftedness, and the empiric literature
is characterized by the absence of a common vocabulary
or universally defined terms, making comparisons across
studies difficult. Within the realm of education, there is
no federal definition recognized by all statesa child
who qualifies for gifted programs in one state may not
be eligible for similar programs in a different state.
Historically, gifted has been equated with high intellectual functioning. In the early 20th century, Lewis
Terman defined gifted as an intelligence quotient (IQ)
at or above 150 on the Stanford-Binet Intelligence Scale
(Terman et al, 1926). Subsequently, the 98th percentile
(IQ = 130) has commonly been used as the cutoff for
giftedness. More recently, some school districts recognize students with IQs of 120 or above as eligible to
receive gifted programming.
506
Social-Emotional Development
In a review of the research, Neihart and colleagues
(2002) reported that most gifted children are socially
and emotionally well adjusted. Contrary to myths
promoted by the media, rates of suicide or school
violence are not higher among students who are gifted.
507
Rather, Neihart and colleagues report low rates of delinquency among students who are gifted compared
with average students. In the National Education Longitudinal Study from the National Center for Educational
Statistics, students placed in gifted programs reported
higher self-perceptions of their social relationships and
emotional development and tended to have fewer serious school behavior problems compared with students
enrolled in regular educational programming (Sayler
and Brookshire, 1993). Similarly, Bain and Bell (2004)
reported that the majority of gifted elementary and
middle-school students reported high self-concepts compared with a high-achieving group of students and had
a stronger tendency to attribute social success to ability
and effort (internal locus of control) rather than to luck
or task difficulty.
A number of steps have been suggested for the promotion of healthy social and emotional development
among children who are gifted. First, the role of the
family cannot be understated. Three family characteristics have been shown to facilitate social and emotional
resilience among gifted youth: parents who have high
expectations of their gifted children and model high
achievement, parents who give their children more independence, and parents who provide stimulation and
nurturance (Winner, 2000). Second, schools that set
high expectations for achievement and provide appropriate, individualized educational programming also
promote social and emotional adjustment among gifted
students. Reis and Renzulli (2004) suggest that appropriate educational programming for gifted students
should include (1) accelerative learning experiences targeting areas of academic strength along with supports
in areas of identified weakness (i.e., learning disabilities
or attention-deficit/hyperactivity disorder), (2) mentoring that teaches students how to cope with the pressures
and social stress associated with high academic ability and early presentation of career information, and
(3) integration of social-emotional curriculum appro
aches to help gifted children support one another,
including social opportunities with peers of similar abilities, interests, and motivation.
APPROACHES TO EDUCATING
THE GIFTED CHILD
During the past 50 years, research and educational programming focused on gifted students have grown. At
the federal level, although specific legislation recognizes
the unique educational needs of students who are identified as gifted and talented (e.g., the Jacob Javits Gifted
and Talented Students Education Act, recently reauthorized in 2001 as part of the No Child Left Behind
Act), the federal government does not mandate services
for gifted students. Gifted and talented programming is
not part of the Individuals with Disabilities Education
Act. Rather, the majority of programs and services that
students receive are determined by state laws and policies and funded at the state and local level. State laws
that define gifted and talented programming and teacher
training requirements, along with available funding for
gifted education, vary widely. Most states and school
508
Curriculum Alternatives
In general, research suggests that gifted students require
a differentiated curriculum that addresses their learning needs to maintain academic interest and high levels
of achievement. The following is a brief introduction
to the various curriculum alternatives for gifted education. Empiric support for the effectiveness of each of
the following programs is limited. There are three main
approaches to gifted education: ability grouping, acceleration, and enrichment.
Ability grouping refers to the practice of using test
scores or other measures of achievement to assign students to groups within the classroom. This practice
may involve part-time assignment to both regular and
special classes or full-time grouping with students of
similar abilities within the classroom. Magnet schools
are a good example of ability grouping for students
who are gifted and talented or students with special
interest areas (e.g., science and math or the arts).
Research suggests that gifted students who receive
a differentiated curriculum through flexible grouping practices evidence higher academic achievement
at all grade levels compared with those students who
do not receive a differentiated curriculum (Kulik and
Kulik, 1992).
Acceleration is an educational procedure that is
based on the assumption that gifted students learn at
an accelerated rate and generally master advanced-level
academic material. Acceleration is a placement, not an
educational program. Accelerative procedures may include early entrance into kindergarten, grade advancement, early entry into college, and dual enrollment in
high school and college. Curriculum compacting is another example of accelerative programming, whereby a
number of courses are compressed into one or students are exempt from instruction in an area in which
they demonstrate mastery. Opponents of acceleration
suggest that this form of educational programming is
detrimental to the social, emotional, or physical development of gifted students, and acceleration practices
are not commonly used by most school districts. However, in a review of the research, Gross and van Vliet
(2005) reported positive outcomes for exceptionally
gifted students who were permitted radical acceleration (i.e., early entry into college), including sustained
interest and involvement in academic activities, high
levels of academic success, and transition into highstatus careers. Moreover, there was no evidence for
social or emotional maladjustment when exceptionally
gifted students participated in well-planned acceleration
procedures. Positive outcomes for students who participate in radical acceleration procedures were associated
with high achievement motivation, persistence, effective
study skills, and involvement in educational decision
making.
Enrichment refers to additional or new curricular
material not delivered in regular education or instructional strategies that supplement what is taught in the
regular education classroom (e.g., pull-out programs).
Advanced Placement (AP) courses, part-time college
courses, and summer programs are examples of enrichment programs. Gifted students report an increase
in social self-concept when they participate in summer
enrichment programs (Rinn, 2006). However, pull-out
programs have been criticized for not providing appropriate educational programming throughout the school
day or across all subject areas.
Solutions
Research documenting the effectiveness of specific interventions for gifted underachievement has been inconclusive. However, the growing literature on gifted
underachievement suggests that a focus on strengths
and interests is critical to reversing the pattern of underachievement (Baum et al, 1995; Dole, 2000; Reis
et al, 2005). In addition, interventions that target family, child, peer, and academic factors are recommended.
Specifically, psychological interventions that target
family dynamics (e.g., increased positive parent-child
interactions, increased parental interest and investment
in their childs education, and use of reward systems)
and characteristics of the student (e.g., cognitive and
emotional obstacles, such as low self-efficacy) are recommended. Academic interventions should include curricular changes that tap areas of giftedness and high
interest and establish clear academic goals and objectives with rewards for attainment of these goals. There
is some evidence that more rigorous academic challenge
may actually have a positive impact on underachievement. Peer groups that support achievement can be
an important part of preventing and reversing underachievement. In this regard, busier adolescents who
509
Solutions
In addition to supporting and encouraging accelerative
learning experiences, Neihart and colleagues (2002) sug
gest that educational programming for gifted students
510
Multidimensional Perfectionism Scale, personality measures, and indicators of psychiatric symptoms, four typologies were yielded (Table 52-1). Those adolescents
with maladaptive types of perfectionism also reported
high levels of self-doubt, excessive concern about making mistakes, excessively critical parents, poor selfimage, and inadequate coping strategies. Dixon and
colleagues suggest that maladaptive perfectionism may
become more differentiated in adolescence.
Solutions
Knowledge about the various types of perfectionism
among gifted students can help primary care providers,
parents, and educators understand the barriers to their
success (Dixon et al, 2004). Important components of
intervention include assisting the child in setting high
yet realistic goals, encouraging effort rather than placing undue emphasis on cognitive ability, and valuing the
lessons learned from mistakes (Schuler, 2002). When
excessively high standards lead to a crippling fear of
failure and subsequent underachievement, psychological
interventions are indicated. Mental health professionals
may assist in the identification of possible obsessivecompulsive tendencies or depression and provide effective remediation of maladaptive perfectionism.
Perfectionism Profile
Adjustment Profile
Mixed-adaptive
Pervasive
Nonperfectionist
Mixed-maladaptive
Adapted permission from Dixon FA, Lapsley DK, Hanchon TA: An empirical typology of perfectionism in gifted adolescents. Gifted Child Q 48:95-106, 2004.
c ultivation of giftedness is complicated by limited educational capital, including reduced financial means
and restricted access to cultural, health, and educational resources, in addition to psychological and social
pressures and racial and ethnic discrimination (Borland
and Wright, 1994; Gordan and Bridgall, 2005).
In a review of the literature, Neihart (2006) suggested
that many gifted students from low-resource families or
minority groups experience an affiliation/achievement
conflict when they perceive that the expression of their
giftedness would be in conflict with or not valued by
members of their cultural group. Withdrawal from academic pursuits is a common reaction to the cognitive
dissonance that occurs when a student first becomes
aware of this conflict, usually during adolescence. For
example, gifted African American students may experience peer pressure to underachieve for fear of acting
white (Ford, 1994). Peer influence and pressure in
working-class families to marry young and to secure a
job represent additional pressures faced by gifted children from low-resource families or minority groups.
Underachievement in at-risk populations should therefore be viewed as a sociocultural phenomenon (Ford,
1994; Grantham, 2004; Neihart, 2006).
In a review of the literature, Moore and colleagues
(2005) reported that noncognitive factors more effectively predict persistence among academically gifted
African American students than do achievement and
performance variables (e.g., tests and grades). These
noncognitive factors include self-confidence, realistic
self-appraisal, understanding of and ability to cope with
racism, preference for long-range goals over more immediate short-term goals, support of academic pursuits
from others, successful leadership experience, community service, and knowledge acquired in a field. Similarly,
in a 3-year study of 35 economically disadvantaged, ethnically diverse, academically gifted high-school students,
Reis and associates (2005) reported that the presence of
at least one supportive adult, peer support, and involvement in productive after-school or summer activities distinguished those students who excelled academically.
Solutions
Mentoring or coaching has been promoted as one
strategy to cultivate academic giftedness among students from low-resource families or minority groups.
Callahan and Kyburg (2005) suggest that the greater
a gifted students distance from that expected in terms
of the typical professional (e.g., African Americans in
mainstream science), the greater the need for role models who are closely matched to the student in terms of
attitude, values, lifestyle, background experience, race,
and gender. Neihart (2006) suggests that gifted students
from low-income families or minority groups must master code switching, a process of deliberately changing
behaviors to accommodate the expectations of different
environments. As such, at-risk gifted students need cultural brokers or caring adults who understand gender,
class, racial, or ethnic factors and can identify these factors in a variety of contexts, mediate potential conflict,
and build bridges. Finally, coaching may provide direct
instruction in the social skills necessary for leadership in
511
a variety of cultural contexts, including authority, selfcontrol, and conflict resolution. For instance, in some
ethnic cultures, behaviors that are encouraged in accelerated educational programs (e.g., questioning authority,
critical thinking) are discouraged at home because they
are perceived as disrespectful of authority.
Family and peers represent important moderators
of academic success among gifted students from lowincome or minority groups. Ford (1994) recommends
building strong family-school-community relations for
these students to nurture resilience. Even among lowincome families, conditions favoring high achievement
are the same as those described in the general population: supportive families that value education and work,
favorable educational and financial resources, positive
and encouraging parenting practices, and higher degree
of stimulation (Robinson et al, 2002). Peer group networks also may provide a forum for open discussions
about the hidden and overt expectations regarding
class, race, and achievement, including explicit labeling
of the unfairness some at-risk gifted students encounter
(Neihart, 2006).
Finally, the curriculum must enable access to gifted
and talented programming and academic resources for
members of low-resource and minority groups (Swanson,
2006). Academic enrichment that incorporates a multicultural curriculum to integrate ethnic identity and cultivation of academic giftedness is recommended (Ford,
1994). Neihart (2006) describes optimal academic settings for at-risk gifted students as welcoming learning
environments that address identity and learning goals
concurrently and normalize the conflicts that some atrisk gifted students experience.
Solutions
Careful, professional evaluation, including comprehensive psychological or neuropsychological evaluation, may
assist the primary care provider with accurate diagnosis.
Intervention should include a differentiated curriculum
that provides both enrichment and instructional supports. For example, a 504 Accommodation Plan may be
required to help the gifted student with attention-deficit/
hyperactivity disorder compensate for everyday behaviors associated with executive dysfunction (e.g., poor organizational skills, limited task initiation or persistence,
512
6.Be understanding.
Identification
The primary care provider is in an ideal position to first
identify potential giftedness early in development when
children present with precocious language/vocabulary
development or exceptional problem solving skills. The
primary care provider also may recognize the signs of
unidentified gifted students (e.g., gifted underachievers)
as the child advances in school. Referral for a comprehensive psychoeducational or neuropsychological evaluation may assist with accurate identification of high
ability and possible comorbid conditions, such as learning disabilities or attention-deficit/hyperactivity disorder.
Finally, the primary care provider may be the first-line
professional to learn about the social or emotional maladjustment of the gifted child and refer families for effective psychological or psychiatric intervention.
Parenting
The primary care provider also is in an ideal position to
encourage appropriate parent-child interactions, to promote developmentally appropriate expectations for behavior, and to educate families about the unique social,
emotional, and academic needs of the gifted child. Parents may feel pressure to provide enriched experiences
and may feel the burden of time and financial investment.
The primary care provider can alleviate these pressures
by educating the family about normal child development,
linking the families to resources such as the National Research Center on the Gifted and Talented, and recommending appropriate educational programming. Research
suggests that family dynamics make a stronger contribution to the achievement outcomes of gifted children than
demographic variables. Specifically, parents who set high
and clear expectations promote higher achievement in
their children. Strong extended family relations also tend
to promote emotional health, social competence, and
self-efficacy. Finally, an authoritative parenting style,
characterized by both flexibility and firmness, contributes to greater academic achievement in children who are
gifted (Neihart, 2006). The primary care provider may
coach parents from diverse backgrounds about these key
components of effective parenting (Table 52-2).
Educational Programming
The primary care provider should become familiar with
state and local definitions guiding the provision of gifted
programming. Definitions may be obtained from state
departments of education or the National Association for
Gifted Children. Because identification of students eligible for gifted educational programming may vary from
school district to school district, the primary care provider also may consult with district school psychologists
about identification procedures and gifted programming
specific to a given school. Research clearly indicates that
gifted students require accelerated learning experiences
to maintain interest and high achievement. Therefore,
in addition to educational programming, the primary
care provider may become familiar with extracurricular
opportunities, such as summer programs and weekend
college courses.
SUMMARY
Current conceptualizations of giftedness highlight the
cognitive and noncognitive components necessary for
gifted products, including, for example, high intellectual ability, creativity, persistence and motivation, and
self-efficacy. Although children who are gifted represent a heterogeneous group from diverse backgrounds,
those factors that promote healthy cognitive, social,
and emotional development are largely the same and
include supportive families that set high expectations
for academic achievement; individualized, accelerative
educational programs that address areas of strength
and weakness; and opportunities to interact with peers
who have similar abilities, interests, and motivation.
The primary care physician is in an ideal position to
guide parents of gifted children by first recognizing the
signs of gifted behavior early in development and referring for comprehensive psychoeducational or neuropsychological evaluation when indicated. The primary care
physician also may provide families with guidance on
REFERENCES
Bain SK, Bell SM: Social self-concept, social attributions, and peer
relationships in fourth, fifth, and sixth graders who are gifted compared to high achievers. Gifted Child Q 48:166-178, 2004.
Baum S: Gifted but Learning Disabled: A Puzzling Paradox. Reston, VA,
Council for Exceptional Children, 1990. ERIC Digest No. E479.
Baum SM, Renzulli JS, Hbert TP: Reversing underachievement: Creative productivity as a systematic intervention. Gifted Child Q
39:224-235, 1995.
Bloom B: Developing Talent in Young People. New York, Ballantine,
1985.
Borland JH, Wright L: Identifying young, potentially gifted, economically disadvantaged students. Gifted Child Q 38:164-171,
1994.
Callahan CM, Kyburg RM: Talented and gifted youth. In DuBois
DL, Karcher MJ (eds): Handbook of Youth Mentoring. Thousand
Oaks, CA, Sage, 2005, pp 424-439.
Cornell DG: High ability students who are unpopular with their peers.
Gifted Child Q 34:155-160, 1990.
Dixon FA, Lapsley DK, Hanchon TA: An empirical typology of
perfectionism in gifted adolescents. Gifted Child Q 48:95-106,
2004.
Dole S: The implications of the risk and resilience literature for
gifted students with learning disabilities. Roeper Rev 23:91-96,
2000.
Ford D: Nurturing resilience in gifted black youth. Roeper Rev 17:
80-85, 1994.
Gardner H: Intelligence Reframed: Multiple Intelligences for the 21st
Century. New York, Basic Books, 1999.
Gordon EW, Bridgall BL: Nurturing talent in gifted students of color.
In Sternberg RJ, Davidson JE (eds): Conceptions of Giftedness,
2nd ed. New York, Cambridge University Press, 2005, pp 120146.
Grantham TC: Multicultural mentoring to increase black male representation in gifted programs. Gifted Child Q 48:232-245, 2004.
Gross MUM, van Vliet HE: Radical acceleration and early entry to
college: A review of the research. Gifted Child Q 49:154-171,
2005.
Kaiser CF, Berndt DJ: Predictors of loneliness in the gifted adolescent.
Gifted Child Q 29:74-77, 1985.
Kulik JA, Kulik CC: Meta-analytic findings on grouping programs.
Gifted Child Q 36:73-77, 1992.
McCoach DB, Kehle TJ, Bray MA, Siegle D: Best practices in the identification of gifted students with learning disabilities. Psych Schools
38:403-411, 2001.
Minner S: Initial referral recommendations of teachers toward
gifted students with behavioral problems. Roeper Rev 12:78-80,
1989.
Minner S, Prater G, Bloodworth H, Walker S: Referral and placement
recommendations of teachers toward gifted handicapped children.
Roeper Rev 9:247-249, 1987.
Moore JL, Ford DY, Milner R: Recruitment is not enough: Retaining African American students in gifted education. Gifted Child Q
49:51-67, 2005.
Neihart M: Dimensions of underachievement, difficult contexts, and
perceptions of self. Roeper Rev 28:196-202, 2006.
Neihart M, Reis S, Robinson N, Moon SM (eds): The social and emotional development of gifted children. What do we know? Waco,
TX, Prufrock Press, 2002.
513
514
Judy Galbraiths The Gifted Kids Survival Guide for Ages 10 and
Under and Judy Galbraith and James R. Delisles The Gifted
Kids Survival Guide: A Teen Handbook (Minneapolis, Free Spirit
Publishing) offer guides to the myriad issues faced by children and
adolescents who are gifted, including identification of appropriately
challenging educational programs and the social and emotional aspects of being gifted. These guides also include extensive lists of
resources (books and Web sites) for parents and children.
53
ADAPTATION AND
MALADAPTATION
TO SCHOOL
Terrill Bravender
In the 21st century, the United States is an informationdriven, highly technologic society, and education is the
key to success. The U.S. Department of Labor estimates
that 12 of the 20 fast-growing jobs will require at least
a bachelors degree, and an additional five will require
other specialized training. The importance of education is also reflected in current unemployment statistics. In the second quarter of 2006, the unemployment
rate was 7.0% among those who have not completed
high school, 4.3% among high-school graduates, 3.7%
for those with some college, and 2.1% for those with
a college degree or higher (Bureau of Labor Statistics,
2006). For those who are employed, the differences in
salaries are even more pronounced. In 2004, the median income was $22,000 per year for full-time workers
with less than a high-school diploma, $31,000 for those
with a high-school diploma, and $51,000 for those with
a bachelors degree (Internet Staff and Population Division). In addition, there are positive associations between income and health, and the level of education,
independent of income, also plays an important role in
determining overall health status.
Adaptation to school is complex, and problems in
this area can result from a broad range of influences.
Such problems may occur in conjunction with diagnoses
covered in other chapters, such as attention deficit disorder, specific learning disabilities, and psychiatric diagnoses such as anxiety or depression, but these comorbid
diagnoses do not have to be present. The term maladaptation to school refers to a spectrum of behaviors that
run from school disengagement to school avoidance and
ultimately to school dropout. When school-related behavior problems do arise, parents may look to a variety
of health care providers for impartial evaluation and
guidance. The clinicians primary role is to identify or to
exclude medical, developmental, psychological, or other
issues that may have an impact on behavior in school,
although excluding a problem may be as important as
identifying a problem. Even when a specific problem is
not identified, parents will often look to a trusted clinician for help. The providers role then is to act as an
impartial advocate for the child and to assist the family in developing appropriate school attendance and behavior strategies. Throughout the evaluation, it is useful
to remember that there are many influences on school
EVALUATION
The evaluation should begin by eliciting the specifics of
the school problems, not just he hates going to school.
One should assess whether these are new or persistent
problems, whether the problems encompass all subjects or just specific classes or teachers, and whether
the child is disruptive only at school or also at home.
Routine questions about past and current medical history as well as a medication history may be important.
Family history is an important component of the assessment and should include questions about other family
members school experiences and parental expectations
about school and school attendance. Attention should
also be paid to histories of mental illness, incarceration,
substance abuse, and discipline practices. Assessments
of the home environment may be revealing. Appropriate sleep and media use are important determinants of
school engagement and attendance, and these should be
explored thoroughly. Additional home environment assessments should include who lives in the home (permanently and transiently), how available the parents are to
their children, and what sorts of family routines are established. A succinct dietary history should be obtained.
If previous developmental or educational testing has
been performed, the parents should be asked to provide
copies of the evaluations for inclusion in the medical
record. A directed physical examination is important,
with particular care paid to the childs growth and developmental parameters. The childs mood, affect, and
behavior in the office should be assessed to help screen
for depression, severe anxiety, or hyperactivity. Routine
hearing and vision screening should be performed.
A variety of physical, developmental, and behavioral
issues may have an impact on adaptation to school and
are summarized in Table 53-1. Although hidden medical diagnoses having an impact on school engagement
are fairly rare, one must keep a broad differential diagnosis in mind. Some issues may be apparent, with the
school-engagement effects hidden (such as with chronic
515
516
Behavioral Issues
Chronic illness
History of prematurity
Recurrent or persistent
otitis media
Hearing or vision loss
Medication side effects
Seizure disorder
Lead poisoning
Iron deficiency anemia
Hypothyroidism
Somatization disorders
Developmental Issues
Learning disabilities
Intellectual disability
Attention deficit disorder
Family Issues
Chronic illness in family member
Substance abuse (in family
member)
Physical or sexual abuse
Exposure to violence in home
School Issues
Poor fit for students temperament
SCHOOL DISENGAGEMENT
Vignette
Jordan is a bright 15-year-old boy in ninth grade who
presents to his pediatrician after his parents found
marijuana in his bedroom. He has not done well in
school this year, failing three classes and barely passing
the remainder. Previously social and outgoing, he has
recently been spending most of his time at home alone
in his room. His parents became concerned, but their
work demands had recently increased, and they had
little time to investigate. He had a successful middleschool experience, making good grades in advanced
classes and participating on the school football and
lacrosse teams. Unfortunately, most of Jordans friends
have gone to different high schools. He was unable
to join the football team this past fall because his
parents were not available to provide transportation.
When lacrosse season started in the spring, he felt
that the transportation situation had not changed, so
he told his parents he was not interested in playing.
In a conference with Jordan and his parents, Jordan
agreed to cease using marijuana if he were able to
join the lacrosse team at his high school. His parents
agreed that they would assist in finding appropriate
transportation to and from practices as long as his
grades improved and he remained drug free.
There has been significant interest recently in the importance of childrens sense of connection to school.
Referred to varyingly as positive orientation to school,
school attachment, school bonding, and, more recently,
school connectedness, it has been studied by use of
promoted through systematic interventions. Interventions designed to promote school bonding and implemented in elementary school can have enduring effects
in reducing risky adolescent health behaviors in high
school (Hawkins et al, 1999). Other programs designed
to promote school connectedness have emphasized selfdiscipline (rather than external, punitive controls) and
have been able to significantly reduce incidents of fighting and acting out in class while still maintaining classroom decorum (Freiberg, 1989; McNeeley et al, 2002).
Interestingly, the more intensely the self-discipline
measures were implemented, the better the students
behavior.
School connectedness is mediated by a number
of variables that can be divided into system variables
and individual-level variables and are summarized in
Table 53-2.
System Variables
Teachers who are empathetic, are consistent, encourage self-management for discipline issues, and allow
students to make decisions can improve their classroom
management and thus improve students feelings of
connectedness. Harsh discipline, such as zero tolerance policies for alcohol infractions, have been shown
to decrease connectedness. These policies usually mandate expulsion for first offenses and are designed to
improve school safety. However, students who attend
such schools are likely to report feeling less safe than
those students who attend schools with more moderate discipline policies. Smaller schools seem to promote
more connectedness than larger schools do, yet classroom size does not show such consistent effects. One
explanation for this finding is that classroom sizes are
rarely large enough to inhibit development of coherent
social units. When schools become too large, though,
it may become difficult for teachers to know all of the
students and provide a warm, caring atmosphere for so
many people. School connectedness is higher in schools
that are racially or ethnically segregated and lowest in
schools that are integrated (McNeeley et al, 2002). It has
been noted that when schools are integrated, friendships
tend to self-segregate within individual racial and ethnic
groups. When friendship patterns are segregated in this
manner, students of all racial and ethnic groups feel less
connected to school. Further compounding the problem is that minority students may disproportionately
Individual variables
517
Positively Influence
Negatively Influence
Empathetic teachers
Consistent discipline
Student self-management for discipline
Students involved in decision making
Smaller schools
Higher grades
Extracurricular activities
Younger students
Male students
Nonminority students
Harsh discipline
Zero tolerance for minor infractions
Difficult classroom management
Larger schools
Lower grades
Skipping school
Older students
Female students
Minority students
518
be assigned to lower-track classes together, thus exacerbating the segregated friendship patterns. Whereas
some have advocated segregation of schools by race and
gender to enhance educational experiences for girls and
minorities, there is a potential danger in the fact that
an unequal distribution of resources typically follows
school segregation. Further, the National Longitudinal
Study of Adolescent Health has demonstrated that some
schools that are highly integrated also have high levels
of school connectedness. What differentiates these particular schools is an area ripe for future research.
Individual Characteristics
Students who participate in extracurricular activities,
such as sports, clubs, or performing arts groups, feel
more connected to their schools, as do those who get
higher grades. Lack of school connectedness is associated with higher rates of skipping school. Female students and members of minority groups demonstrate
lower levels of school connectedness. Interestingly, students school connectedness decreases as they get older,
and there seems to be a significant drop-off between elementary and middle school. This is clearly a critical
period for intervention and prevention efforts.
Despite the best efforts of schools and students, there
occasionally is simply a poor fit between a particular
student and teacher. A childs individual temperament
may play a role in this and should be further investigated, as discussed in detail in Chapter 7.
Management
The goals of management include preventing further disengagement (which can progress to truancy and dropout)
and promoting improved school connectedness. Specific
interventions should be tailored to any underlying issues
identified and to each specific situation. It is crucial that
any underlying comorbid conditions (such as attention
deficit disorder or depression) be treated appropriately.
General intervention guidelines are as follows.
Behavioral Interventions
For disruptive students, behavioral contracts between
teachers, parents, and the student can be effective.
Positive reinforcement and consistency are essential for
success. Children who are too disruptive to the other
students may need to be placed in a special classroom
with more structure.
Developing Strengths
A lack of connectedness to school can significantly affect childrens self-esteem, further alienating them from
participating in academic work and extracurricular activities. These children should be encouraged to develop
specialties in areas of strength or interest and encouraged to apply these areas of special strength to the
school environment.
Educational Services
These services are important, particularly for students
with diagnosed learning disabilities. Special education
focused on skill development as well as language, occupational, and physical therapy may be indicated.
Counseling
Individual counseling should be focused on a students
gaining insight into the relationship between his or her
behavior and possible underlying emotional difficulties.
It may also assist with the underlying anxiety about
school participation that often accompanies school
disengagement.
SCHOOL AVOIDANCE
Vignette
Maggie, a 9-year-old healthy girl, presented to her
pediatrician for abdominal pain and dizziness. She had
been seen by other members of the medical practice
twice in the past month for similar problems, and
her mother had taken her to a local urgent care for
evaluation the week before. Maggie indicated that
pain was located near her bellybutton but could not
describe it any further. She had no history of vomiting,
diarrhea, or constipation and had no ill contacts. The
pain tended to start soon after awakening and tended
to resolve by the time they sought medical attention.
The pain did not bother her on the weekends. Further
history revealed that Maggies parents had recently
separated, and Maggie and her mother had moved to
a new apartment in a different school district. When
asked about school, Maggie stated that she wanted to
go to school but that she couldnt because her stomach
hurt too much. She has missed so much school that
her teacher has begun sending schoolwork home, and
Maggies mother wonders if she should hire a tutor to
teach Maggie at home.
School Refusal
School refusal may be distinguished from truancy by the
following features:
1. Severe difficulty in consistently attending school,
often resulting in prolonged absences.
2. Severe emotional distress when faced with having to
go to school. This may be manifested by fearfulness,
temper tantrums, or complaints of physical illness
without an obvious organic cause.
3. The child remains at home during school hours with
full knowledge of his or her parents.
4. The child does not exhibit significant antisocial
behaviors, such as delinquency, substance abuse,
disruptiveness, or risky sexual activity (Berg et al,
1969).
School refusal affects boys and girls equally, and children of all levels of socioeconomic status are equally
affected. Although school avoidance may occur in
isolation, there are high rates of comorbid psychiatric
diagnoses. Anxiety disorders are quite common, as is
depression, whereas conduct and oppositional defiant
disorders are uncommon. There are three peak ages at
onset of school avoidance behaviors:
1. At school entry (ages 5 to 6), which is often related to
separation anxiety.
2. At entry into middle school (ages 11 to 13), which is
the typical age for complex school avoidance presentations that involve anxiety and affective dysregulation.
3. High school (ages 14 and older) is more associated
with truancy, and school avoidance at this age is
more likely to be associated with serious psychiatric
illnesses.
Typically, children will begin complaining of vague
problems about school or sometimes will not even mention school but will complain of physical symptoms.
These physical complaints may include abdominal pain,
headaches, dizziness, or nausea for which no physical
cause can be found. These vague complaints related to
going to school may then progress to complete refusal
to attend school or to remain at school despite the best
efforts of parents and school staff. Most children will
state that they want to go to school but are unable to do
so because of their symptoms. The childs symptoms are
usually present on mornings before school and quickly
disappear if the child is allowed to remain at home.
Some parents may find it difficult to accept that the
origins of the childs physical complaints are rooted in
psychological distress. Parental anxiety that there may
be a hidden, serious medical condition will only serve
to increase the childs anxiety and worsen the problem.
This emphasizes the importance that a full medical examination be conducted to rule out any organic cause
of the symptoms (Elliott, 1999). Some children may actually have a physical illness (such as gastritis) that is
related to school avoidance. Treatment of such medical problems is important, but in many cases, simply
519
Management
Interventions should be tailored to each child. A variety
of behavioral, psychodynamic, cognitive, or pharmacologic approaches may used separately or in combination.
This authors bias is toward use of a strict behavioral
approach that is mainly exposure based, but it should
also include interventions designed to teach relaxation
and self-calming techniques to affected children. In
most situations, an immediate return to school should
be emphasized to help reduce the reinforcement of being
home. If a child does develop a physical illness requiring
school absence, the home should be made as unentertaining as possible. The child must remain in bed and
may not watch television, read books, play games, or
interact with a parent. The reason given to the child is
that if he or she is too sick to go to school, he or she is
too sick for these other activities.
In conjunction with behavioral interventions, the
school day may need to be modified, particularly during the initial exposure phase. Any modifications (such
as shortening the school day) should be written in a contract and agreed on by teachers, school administrators,
clinicians, and parents. Modifications may also include
minimizing exposure to particularly stressful areas and
should emphasize those aspects of school that the child
finds to be positive. Once the contract is in place, the student should not be allowed to negotiate the terms. Homebound tutoring, online class work, and home schooling
should be avoided because these convey the message
that staying home is an appropriate alternative. If home
schooling does become necessary, it should be conducted
only in a time-limited manner, with a contract written
that includes a date for school re-entry (Freemon, 2003).
Other specific interventions for various clinical situations are as follows.
1. If a child is fearful of school for a good reason, such
as being bullied, or has legitimate fears of being
harmed, these fears need to be taken seriously and
520
Truancy
Intentional, unauthorized absence from school, or truancy, is a problem that affects most school districts in
the United States. The prevalence of truancy is difficult
Management
Truancy interventions are similar to those involved with
school dropout because chronic truancy is a path that
often leads to dropout. Whereas individual behavioral
management certainly plays a role (particularly involving behavioral contracts developed by parents, school
personnel, and other care providers), the most important interventions are programmatic in nature. Truancy
reduction programs vary as much as the schools and
districts that they serve. These programs may involve
school attendance review boards, alternative schools,
distance learning initiatives, individual case managers, and even the court system in conjunction with social services. Although many of these programs have
shown short-term success in reducing truancy rates, the
long-term effects of these programs are unknown. Unfortunately, despite such ongoing efforts at decreasing
truancy and its eventual outcome of school dropout,
dropout rates in the United States have not changed in
the past 2 decades.
SCHOOL DROPOUT
Vignette
Bobby is a 17-year-old with a long history of attention
deficit disorder and academic difficulties. His high
school recently instituted a 2-year foreign language
requirement for graduation. Bobby has failed first-year
Spanish three times and is now refusing to take it yet
again in his senior year. Why should I bother? he
asks. Theres no way I can graduate now, anyway,
since I have to have 2 full years. Instead of starting
twelfth grade, he has been working at an automobile
repair shop near his house. Bobby says that the owner
thinks Bobby would make a good mechanic, but there
is no way for him to get the training he needs without
a high-school diploma.
Before the American Civil War, most elementary education was offered in common schools, which, although publicly operated, were not necessarily publicly
funded, and parents often paid some form of tuition.
In the period after the mid-19th century, the majority
of the United States offered publicly funded primary
school education, usually serving children through the
age of 14 or 15 years. The high-school movement of
the early 20th century dramatically improved access
to secondary schooling, and the number of publicly
funded high schools increased dramatically between
1910 and 1940 (Goldin, 1999). The first compulsory
education law in the United States was passed by Massachusetts in 1852. Mississippi was the last state in
the country to establish compulsory education laws
in 1918. Although the ages at which students are required by law to attend school vary by state, children
are required to begin school at the age of 5, 6, or
7 years and must attend through the age of 16, 17, or
18 years. There are movements currently, in many
states that do not already require it, to extend compulsory education to the age of 18 years. Despite the
legal requirement to attend school, dropout is, unfortunately, a frequent outcome of school maladaptation.
There are numerous negative consequences to school
dropout, including higher rates of unemployment,
lower wages when employed, and lower general health
status regardless of income.
Data on dropout rates must be reviewed with caution, realizing that differently defined rates are often
reported. The event dropout rate refers to the percentage of students who left high school between the beginning of one school year and the beginning of the next
without earning a high-school diploma or its equivalent, such as a Graduate Equivalency Degree (GED).
In 1972, the high-school event dropout rate was 6.1%.
This rate slowly trended downward until 1990, when it
was 4.7%. Despite small year-to-year fluctuations, this
rate has been essentially unchanged since that time, and
the event dropout rate in the 2004 was also 4.7%. This
means that almost 1 of every 20 high-school students
521
Management
Prevention efforts are critical, particularly given that
individual-level interventions have shown little benefit.
An examination of the reasons that youth drop out
of school can help guide such programs. These reasons are summarized in Table 53-3. The most common
reason, given by more than half of dropouts, is that
they simply did not like school. Other more concrete
reasons include failing school, being suspended, job
conflicts, and having friends who also dropped out of
school (U.S. Department of Education, 1990). These
reasons should be viewed as the final outcome of a
long process of disengagement from school. Academic
failure, disengagement from extracurricular activities,
and high numbers of school absences are all interrelated, and such problems may begin to be manifested
as early as first grade (Kemp, 2006). Thus, ideal interventions should be seen as prevention efforts focused
on these longer term disengagement issues. Unfortunately, programs that focus on individuals at risk are
522
Male
Female
58
46
52
44
33
17
38
25
32
18
14
22
19
18
12
13
9
13
15
20
16
8
3
5
5
5
5
31
24
23
14
14
12
17
11
SUMMARY
Adaptation to school is an important predictor of academic success. Students who experience maladaptation
to school are at risk for school avoidance, truancy, and,
eventually, dropout. Recent research into adaptation,
often referred to as school connectedness, has found
that a feeling of connection to school not only is indicative of academic success but also predicts fewer
risky behaviors and less truancy. Despite the many
efforts aimed at dropout prevention, dropout rates in
the United States have not changed during the past
2 decades. Regular screening for school adaptation
and attendance is an important component of clinical
interactions, and prevention of school dropout is critical. Although screening and management often focus
on individual students, prevention efforts should be
focused on system variables, with particular attention
paid to promoting school connectedness and offering
alternative pathways to school completion, such as
vocational education.
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Henry KL: Whos skipping school: Characteristics of truants in 8th
and 10th grade. J School Health 77(1):29-35, 2007.
Hurt H, Malmud E, Brodsky NL, Giannetta J: Exposure to violence:
Psychological and academic correlates in child witnesses. Arch
Pediatr Adolesc Med 155(12):1351-1356, 2001.
523
54
525
Neurochemistry
Evidence from studies examining brain structure (neuroimaging), brain function (neuropsychology, functional
imaging studies), and responses to medications (psychopharmacology) suggest the importance of dopamineand norepinephrine-mediated frontostriatal pathways
in the pathophysiology of ADHD. Psychostimulants
commonly used to treat symptoms of ADHD have been
found to influence both dopaminergic and noradrenergic systems. Nearly all medications effective in treating
the symptoms of individuals diagnosed with ADHD
have been demonstrated to directly or indirectly increase
dopamine activity in frontostriatal pathways. Neuropharmacologic studies support the concept of ADHD as
a disorder of hypodopaminergic function or dopamine
insensitivity.
DEVELOPMENTAL TRAJECTORY
OF ATTENTION SKILLS
Any individuals ability to regulate her or his level of
attention, activity, and impulses evolves from infancy
through adulthood. Both neurologic maturation and
real-life experiences have an impact on the rate of change
and the precision of these skills. In addition, level of motivation and intelligence also alter ones ability to selectively attend to a specific environmental stimulus. As a
result, a childs attention regulatory skills must be evaluated within the context of the childs chronologic and
developmental age. With increasing neuromaturation,
ones ability to inhibit or to override routine or reflexive behaviors in favor of more controlled or situationappropriate and adaptive behaviors generally improves.
In some situations (e.g.,inhibition tasks), young children
526
Alerting/Arousal
To demonstrate attention to any specific environmental stimulus, an individual must maintain alertness to
detect salient stimuli in the environment. A childs ability to disengage, shift, and re-engage attention typically
develops throughout infancy. For example, even at
3 months of age, parents report being able to distract
an upset child with exposure to a novel stimulus; but as
interest and attention wane, a childs distress returns,
suggesting that distress reduction may be the result
of shifting of attention, not reduction in the noxious
stimulus.
Regions of the right frontal and parietal cortices and
the norepinephrine system appear to be critical in maintaining focus on a particular object or person (Posner
and Rothbart, 2005). Studies of individuals with epilepsy have demonstrated that midline structures are also
necessary for arousal. This model also suggests that
alertness (focus on one specific item) leads to quieting
of other brain activities by the release of norepinephrine,
resulting in an increased signal-to-noise ratio in specific
brain areas.
Inhibition
A childs ability to inhibit inappropriate behaviors
(response inhibition) typically increases with age. One
common task thought to measure response inhibition in
the clinical setting is the go/no-go paradigm, in which
children are asked to respond to every stimulus except
one (e.g., respond to all letters except Z). A childs ability to refrain from responding to the no-go stimulus is
used as a measure of response inhibition. During the
preschool and school-age years, response inhibition
tends to improve for most children.
Neuroimaging studies using the go/no-go paradigm
have demonstrated signal increases in several brain regions (ventral prefrontal cortex, inferior frontal cortex,
and anterior cingulate gyrus) with development; children show reduced brain activity on this task compared
with adults, although the brain activation in these same
regions increases when inhibition is required (Casey
et al, 2001; Vaidya, 2005). In children far more than
in adults, basal ganglia structures also appear to be involved in response inhibition. Children diagnosed with
ADHD who behaviorally show a high rate of errors of
commission, or false alarms, demonstrate significantly
lower activity than do control children in their basal
ganglia region activity during performance of a go/
no-go task (Durston, 2003). However, when children
diagnosed with ADHD took stimulant medication to
address symptoms of inattention and impulsivity, their
basal ganglia activity more closely resembled that of
Attentional Control
In the real world, children (and adults) are expected to
selectively focus on relevant tasks while simultaneously
suppressing information that is irrelevant or misleading
at that time. One task used to study this component of
attention is the Stroop paradigm. In this task, participants are asked to identify the color of ink in which a
word is written. The task requires inhibition of word
reading because reading the word is a more automatic
response than saying the color (e.g., saying red when
the word blue is printed in red ink requires inhibition of
reading blue). Neuroimaging studies implicate that the
anterior cingulate cortex is particularly important for
detecting and resolving this attentional conflict.
Shifting attention is measured by tasks such as the
Wisconsin Card Sorting Task. This task requires parti
cipants to change the sorting rule they are using as a
result of the positive and negative feedback they receive on the basis of their responses. Typically, healthy
children learn to shift their behavior and their implicit
categories when the rules change. Adults adjust more
quickly than do children. Adults with dorsolateral prefrontal cortex lesions have impaired performance on
these tasks. In addition, adults with frontal lobe lesions
perform this task quite similarly to a typically developing
3-year-old child.
ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER AS A DIAGNOSIS
The core features required for diagnosis of ADHD
have been revised during the past half-century with
each iteration of the Diagnostic and Statistical Manual
of Mental Disorders (Tables 54-1 and 54-2). ADHD
is currently diagnosed on the basis of the presence of
behavioral symptoms of inattention or hyperactivityimpulsivity. These domains are dissociable but frequently co-occur. To ensure that the core symptoms are
pervasive, clinical diagnostic criteria must be observed
in at least two settings. To ensure that the symptoms
are profoundly disruptive, diagnostic criteria currently
require that an individual is functionally impaired.
To ensure that the symptoms are persistent, the criteria require that they have been present for at least
6 months and began before the age of 7 years. Finally,
the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR),
requires that the symptoms are not attributable to another primary disorder (DSM-IV-TR, 2000).
Most researchers and clinicians follow the framework
outlined in the DSM-IV-TR (2000) in making the diagnosis of ADHD (see Table 54-1). Four specific subtypes
of ADHD are outlined in the DSM-IV-TR:
1. ADHD, combined type (accounting for 85% of those
with ADHD)
2. ADHD, predominantly inattentive type
3. ADHD, predominantly hyperactive-impulsive type
4. ADHD, not otherwise specified
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Citation
Comments
1902
1930s
1960s
1970s
1980
1990s
2000s
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Epidemiology of ADHD
There is considerable variation in the prevalence of diagnosis with ADHD between countries and even between
different regions within the United States. This variance
is thought to stem from the differences in the ratio of
physicians to people in the region and the differences in
applying diagnostic criteria. In the United States, ADHD
is estimated to affect 3% to 7% of school-age children
(Rappley, 2005; Satcher, 1999). Boys are more often described as meeting criteria for ADHD, but the reported
male-to-female ratio varies widely (Rappley, 2005).
ADHD symptoms have their onset in preschool or
early childhood. Many symptoms persist through adulthood. In individuals identified with ADHD as children,
the rate of persistence to adulthood has been reported
to be as high as 50%. On occasion, a person who has
underachieved throughout life reaches adulthood and
is then diagnosed with ADHD (Okie, 2006). A recent
national survey in the United States found an estimated
prevalence of ADHD of 4.4% of U.S. adults. The investigators emphasized that adult ADHD symptoms often
coexisted with a range of other mental health disorders. The majority of adults were untreated for ADHD,
although many were under treatment for the other comorbid mental health or substance-related disorders
(Kessler, 2006).
529
Clinicians Role
A major challenge for the clinician is that many medical,
behavioral, and learning problems can present as weaknesses of attention regulation. A major task is quantifying
the pervasiveness, persistence, and impact of inattention
and overactivity. It is important to identify treatable diagnoses for the cause of attentional problems (Table 54-4).
It is also important to determine whether medical or psychotherapeutic treatment is necessary, whether there is or
is not an identifiable cause. Key components of a clinical
assessment for ADHD include a comprehensive history, a
thorough physical examination, and a review of collateral
information, such as school performance and testing results from other observers. Gathering of a comprehensive
history includes a review of prenatal, perinatal, early childhood, extended family, and psychosocial factors. This history may also uncover possible comorbid conditions (Table
54-5). A thorough physical examination (see Chapter 76)
should include a detailed neurologic examination and
confirmation of a childs normal vision and hearing. No
specific physical or laboratory findings are pathognomonic
of a diagnosis of ADHD; hence, recent clinical guidelines
do not suggest any particular routine medical assessment
to confirm or to rule out a diagnosis of ADHD.
530
Table 54-4. Differential Diagnosis of Attention-Deficit/Hyperactivity Disorder and Possible Symptom Overlap
ADHD Symptom Potentially
Caused by or Overlapping with
Another Concern
Alternative Diagnosis
to Consider
Inattention
Hearing impairment
Visual impairment
Seizure disorder
Sleep disorders: sleep
apnea and narcolepsy
Anxiety disorders*
Excessive worries
Fearfulness
Talks excessively
Anxiety disorders*
Bipolar disorder
Excessive worries
Fearfulness
Grandiosity
School failure or
underachievement
Learning disorders
Adjustment disorder
Psychosocial stressors
Fidgety
Anxiety disorders*
Tic disorder
Stereotypical movement
*Anxiety
disorders including generalized anxiety disorder, obsessive-compulsive disorder, and post-traumatic stress disorder.
Data-Gathering Approach
School related
Fewer disruptive classroom
behaviors
Improved quality of work
Improved work completion
(in class; homework
returned)
Home related
Improved efficiency
of homework
Improved completion
of chores
Decreased impulsive safety
concerns
Self-reported
Improved self-esteem
Improved relationships with
peers
Self-perception of improved
efficacy of homework and
daily tasks
Obtain by standardized
report
Communication book
Review of report cards
Review of standardized
assessments
Standardized reports
Parent report during clinical
interview
Quality of life
questionnaires
Standardized reports
Self-report during clinical
interview
the European Society for Child and Adolescent Psychiatry, and the Scottish Intercollegiate Guidelines Network
describe a range of desirable outcomes for children
being treated for ADHD (Table 54-6).
A wide range of therapies have been advocated to
address attentional problems in children and adults,
including demystification (see Chapter 86), behavioral
interventions (see Chapter 87), and psychoactive medications (see Chapter 90). Recent studies suggest that dietary changes, including reduction in food additives and
improvements in nutrition, might benefit children with
ADHD. Mind-body therapies (including but not limited to meditation and biofeedback) have been shown
in some studies to offer benefit to children with ADHD.
Complementary and alternative medicines have not been
shown to improve symptoms or outcomes.
The first step, demystification, teaches the child, adolescent, or adult and the family about attentional issues
by use of a nonpathologic approach (see Chapters 86
and 89). Levine has developed a series of tools helpful in
this process, but the general approach is to discuss the
patients areas of relative strength and weakness and to
make attentional problems a characteristic to improve
rather than a source of shame (see Chapter 44).
Behavioral Approaches
At present, behavioral approaches are a starting place for
addressing global attentional issues, especially in preschool
but also in school-age children. Behavioral approaches
have been shown to be better than placebo in multiple trials.
Examples of behavioral strategies suggested for working
with children with ADHD and their families include contingency management (e.g., point/token reward systems;
time-out; response costs) and psychoeducation in home
and school settings. Although it is efficacious for some
comorbid symptoms (e.g., anxiety symptoms), cognitivebehavioral therapy including self-monitoring and verbal
531
532
Pharmacologic Interventions
Numerous studies have suggested that medications, particularly psychostimulants, have an important role as
part of a treatment plan for children, adolescents, and
adults who have been carefully diagnosed with ADHD.
All medications should be initiated in trial mode while
baseline data are collected from as many sources as possible, at least home and one teacher. Careful attention to
the nature and severity of adverse side effects is crucial for
ultimate decisions about the use of medication. A reasonable approach to decisions about medication is to choose
measurable target outcomes before the medication trial
and to evaluate progress toward those outcomes with
treatment. Several doses and formulations of medications
may be required. Positive change should be demonstrated
for medication to be continued. However, a favorable response to a stimulant is nonspecific and does not prove
the diagnosis (Carey, 2000). Long-acting medications
seem preferable to short-acting preparations to maximize blood levels of medication, to minimize decreased
attention as medication wears off, and to eliminate the
embarrassment of going to the school nurse for midday
medication. Children should be seen regularly twice to
four times per year to monitor vital signs, growth side
effects, and comorbid conditions. The visit is an opportunity to make sure that academic and social successes
are tracking with attentional improvement. A trial off of
medication to determine whether the child or adolescent
is still benefiting is desirable to some families. If children
are not making progress toward target outcomes or if
their academic or social experiences remain unfavorable,
other interventions must be put in place on a timely basis.
Approaches to the use of medication and treatment options are comprehensively reviewed in Chapter 90.
SUMMARY
Evidence from neuroscience, neuropsychology, and
genetics is refining our clinical understanding of the
neurologic bases of attention and disorders of attention. Both genetic and environmental factors have an
impact on attention abilities. Clinicians assessing children with attentional problems should gather key historical information in more than one setting (including
home and school settings) and use explicit diagnostic
criteria to make an accurate diagnosis. In addition, they
should carefully consider alternative reasons for a childs
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55
DIFFERENCES IN LEARNING
AND NEURODEVELOPMENTAL
FUNCTION IN SCHOOL-AGE
CHILDREN
Melvin D. Levine
536
Attention
Dysfunctions of attention are, in all likelihood, the most
common neurodevelopmental problems affecting children. Weaknesses of attention are especially incapacitating and are likely to have broad although often subtle
and insidious impacts on day-to-day performance. Neurodevelopmental dysfunctions of attention are covered
in Chapter 54.
Memory
As children proceed through school, there is a growing
and potentially incapacitating strain on one or more
of the numerous and varied components of memory
(Levine, 2002). Students are expected to be increasingly selective, systematic, and strategic in contending
THE NEURODEVELOPMENTAL
CONSTRUCTS
The
attention
controls
Higher order
cognition
Social
cognition
An Individuals
Neurodevelopmental
Profile
Language
Temporalsequential
ordering
Memory
capacity
Spatial
ordering
Neuromotor
function
Signs of Dysfunction
Short-term memory
Active working
memory
Consolidation in
long-term memory
Retrieval from
long-term memory
537
Language
Linguistically competent children have a distinct advantage in school because much of what gets taught is
encoded in literate language. All of the basic academic
skills are conveyed largely through verbal expression.
Many important thinking skills are conveyed and
applied through language (Nelson, 1996). Therefore, it
is not surprising that children with language dysfunctions are susceptible to tumultuous academic careers
(Paul, 2001).
There exist multiple forms and levels of language dysfunction. These are summarized in Table 55-3 (see also
Chapter 72). Some children have problems with phonology, so that they are hampered in their appreciation
and manipulation of discrete language sounds. They
may have trouble discriminating between and forming
associations with the sounds of their native language.
Problems with phonologic awareness have been studied
extensively in recent years and have been identified as
one of the most common forms of learning disorder in
childhood. Affected students have difficulty perceiving
some or many of the 44 language sounds (phonemes) in
the English language (Runge and Watkins, 2006). They
may as well suffer from deficits in their phonemic awareness, their sense that words are made up of individual
language sounds and can be taken apart into these and
re-blended at will, another requisite for fluent decoding and accurate spelling. Children with weaknesses
of phonologic and phonemic awareness may be forced
to overrely on visual and context clues during reading.
Many of them find it hard to hold language sounds
in active working memory firmly enough to break a
word down into its component sounds and re-blend
538
Discourse
Expressive
language
Receptive
language
Common Manifestations
Difficulty processing, retaining, and
manipulating language sounds, leading
to trouble decoding words, spelling,
learning a second language
Trouble understanding word meanings,
taking its toll on vocabulary growth and
reading comprehension
Problems understanding and formulating complex sentences, impairing
ability to follow directions and verbal
explanations, also undermining reading
comprehension
Poor processing and retention of language
delivered in large amounts (extended
passages, chapters, lectures)
Deficient encoding of thoughts into words
and sentences, dysfluency, poor writing,
lack of verbal participation in school
General weakness affecting ability to
interpret accurately and with sufficient
speed of the spoken or written language
language levels becomes vital for success during secondary school. Students who proceed through high school
lacking higher language sophistication often experience
failure and commonly also develop signs of behavioral
maladjustment or emotional instability.
A distinction can be made between receptive language
dysfunctions (those affecting comprehension) and expressive language dysfunctions (those thwarting language
production or communication). Children with primarily
receptive language problems may have serious difficulty
following instructions in the classroom, understanding
verbal explanations, and interpreting what they read.
Those with expressive weaknesses are likely to display
weaknesses of word retrieval; despite an adequate vocabulary, their dysphasias make it hard for them to recall
exact words on demand. This impairment can make it
embarrassing and difficult for an affected student to participate in class discussions or to come up with precise answers on a quiz. Still others with expressive dysfunctions
have trouble formulating sentences, using grammar effectively, and organizing spoken (and often written) narrative. Children with expressive language problems are
likely to be hesitant when they speak. They may overindulge in circumlocutions. Their spoken narrative is often
lacking in cohesive ties; it sounds as if they are reading a
list of sentences when they talk. Words such as then,
as soon as, before, and next are used sparsely (if
at all), resulting in a lack of narrative cohesion.
Some students with verbal dysfluency are noticeably
passive, taciturn, and consistently nonelaborative in
their communications. When asked what he or she did in
school today, such a student is likely to respond stuff!
Sometimes a child with expressive language dysfunctions speaks fluently with peers and family members,
making use of limited vocabulary and simple or repetitive syntactic patterns. These same students may be poor
at using more literate language.
Language dysfunctions range from blatant to subtle
to barely discernible. They are frequently diagnostically
elusive. Some students with mild language difficulties
function reasonably well in school until they are required to master a second language. Other students with
language dysfunctions may succeed until they reach late
elementary or middle school, when language becomes
increasingly decontextualized. That is, they can do well
when language is used to describe familiar contents.
When it becomes less predictable, such as when a teacher
describes events that occurred long ago and far away, a
language-impaired child may experience a steep decline
in comprehension.
Students with notably strong language function may
make use of their linguistic facility to overcome other
learning problems. For example, it may be possible to
verbalize ones way through the mathematics curriculum, thereby overcoming latent confusion over certain
primarily nonverbal concepts (such as ratio, equation,
and circumference).
Spatial Ordering
Most spatial data enter minds through visual pathways,
but some are mediated through nonverbal conceptualization or propriokinesthetic pathways. Shape, position,
Temporal-Sequential Ordering
The appreciation and application of time and sequ
ence is an important neurodevelopmental function
(Marshuetz, 2005). Students need to be able to preserve
and to manage a vast range of practical and abstract
sequences. They must tell time, process and produce
multistep explanations and procedures, and register
lengthy sequences in short-term memory. The curriculum demands the preservation of serial order in spelling,
in narrative, and in mathematical algorithms. Therefore,
an inability to work with sequences is likely to be associated with problematic writing, with mathematical deficiencies, and with generalized organizational
problems.
Children who have difficulties with temporalsequential ordering may be delayed in learning to tell
time. They can also become confused over multistep
inputs of various types. Thus, it is not unusual for a
child with temporal-sequential disorganization to experience trouble following multistep instructions and
processing complex sequential explanations. Sequencing weaknesses often result in the delayed mastery
of multiplication facts as well as the performance of
multistep computations. Over time, such a dysfunction can interfere with a students ability to organize
tasks in stages and to allocate time effectively. Thus,
it is not unusual for children with temporal-sequential
539
Neuromotor Function
A childs motor skills can play a significant role in a wide
range of academic and nonacademic pursuits (Denckla,
1985). Productivity in school becomes very dependent
on efficient writing skills. The motor aspects of writing, known as graphomotor function, activate capacities
that differ from fine motor function. In fact, it is not
at all unusual for a student to display good fine motor function (such as in art and in repairing a bicycle)
in the presence of poor graphomotor function. Because
writing demands rapid and precise graphomotor coordination, it is not surprising that students with certain
forms of dysfunction are prone to substantial academic
underachievement. Such students have been described
as having developmental output failure. They seem to
have far more trouble with productivity than with learning. The graphomotor dysfunctions that affect writing
can be divided into eight subtypes, which are described
as follows.
1. Some children have finger agnosia; they have trouble localizing their fingers in space while they write.
There appears to be a breakdown of propriokinesthetic (re-afferent) feedback, resulting in poor appreciation of the precise location of the point of the
writing utensil at any particular instant. Because of
their impaired tracking, these children need to maintain their eyes very close to the page. Ultimately, their
writing becomes agonizingly slow and laborious.
Often these students develop a fistlike pencil grip
that causes them to write with their wrists and their
elbows rather than the distal joints of their digits.
The wrists and elbows clearly have wider excursions
during writing, so that propriokinesthetic feedback
will be less subtle. Regrettably, the awkward pencil
grip itself is a liability, making writing agonizingly
slow, uncomfortable, and laborious. In particular,
these students are likely to have trouble with lengthy
writing, such as is needed to complete book reports
in junior high school. In addition, children with finger agnosia tend to have other neurodevelopmental
dysfunctions resulting in broad delays in academic
performance.
540
2. Graphomotor production deficits affect many children, who have difficulty implementing the coordinated motor movements for writing. It is inordinately
difficult for them to decide which muscles to facilitate
(and which to inhibit) to form specific letters. It is
hard for them to assign certain muscles to the stabilization of the writing utensil and others to its movement. They are motorically indecisive. During the
early grades, they often exhibit an unstable pencil
grip (occasionally dropping the pencil in the middle
of a sentence). Eventually they compensate, often
by developing a perpendicular, excessively tight and
distal (or hooked) grasp as a means of overstabilizing the utensil, which can result in awkward, laborious movement. Many of these students also display
an oromotor production deficit, resulting in speech
articulation defects as well as writing problems.
3. Some students harbor a previsualization dyspraxia.
They have difficulty visualizing and therefore planning the configurations of letters and words they are
about to form. Because they do not have a clear and
consistent visual plan or blueprint, their written output tends to be poorly or inconsistently legible. Often
the same problem they experience when visualizing
letters impedes the ability to visualize entire words.
Consequently, they frequently exhibit spelling errors
as well as legibility problems. Their spelling errors
are likely to be phonetically correct but visually
poor approximations (e.g., brawt for brought).
Of interest is the fact that many children with previsualization weaknesses fluctuate in their picturing
of letter configurations. As a result, their writing is
inconsistent; while forming a letter, they often (but
not always) forget the gestalt of that letter. Therefore, their writing is marked by hesitation, retracing,
and erratic letter formation.
4. Some students have procedural memory dyspraxias. They are unable to recall and therefore to plan
the precise sequences of motor movements required
to form letters. These children also show letter formation inconsistencies, a poor writing rhythm, and
erratic legibility. Their motor sequential recall may
fluctuate from word to word or even letter to letter. They (as well as students with previsualization
weaknesses) commonly prefer printing (manuscript)
to cursive writing. Often students with procedural
memory dyspraxias also endure difficulties in mathematics as a result of their weak recall of the multistep
procedures in that content area.
5. Visual-motor dyspraxia occurs in children who have
a great deal of difficulty using visual information to
program a motor response. In this case, memory is
not required. The child must copy from a board or
a book with the information remaining in front of
him or her. Some youngsters will have great difficulty
making use of visual configurational data and the act
of writing. They are likely to have trouble copying
quickly and accurately in school.
6. Verbal-motor dyspraxia is found in students who
appear to have tremendous difficulty listening and
writing at the same time. They may experience
extreme agony in trying to take notes in high school
or in college. Some of these youngsters have underlying language problems. Others have difficulty with
immediate verbal memory or active working memory.
In many cases, they are students with good language
and memory abilities who simply are unable to integrate verbal inputs with motor responses.
7. Pseudomotor dysfunction is encountered in children whose ideational fluency far exceeds the normal capacity of their fingers to transcribe thoughts
on paper. Sometimes these students have excellent
verbal abilities, fertile imaginations, and notable
verbal fluency. Graphomotor output simply cannot
keep pace with the accelerated rate of their thought
processes. Sometimes these children exhibit stammering or stuttering during their preschool and early
elementary school years. This, too, is a manifestation
of a disparity between rapid ideational fluency and
relatively slow motor (i.e., oromotor) speed. When
they are able to decelerate their thought processes,
both articulation and writing are likely to improve
substantially.
8. Sometimes graphomotor abilities are compromised
by functional undermining. In this case, one or more
of the nonmotor components of writing are siphoning so much effort that motor precision is compromised. If a student has to struggle inordinately with
the simultaneous memory demands of writing (as
described previously in this chapter), letter formation
may be secondarily compromised. That same student
may be able to write a list of words legibly, that is,
when he or she does not have to deal with multiple
other simultaneous demands.
A student with a writing disability may suffer from
one or more of the eight basic graphomotor dysfunctions. Many such students excel at fine motor activities
that do not involve writing. Thus, a child with a procedural memory dyspraxia or with finger agnosia may be
an excellent artist or mechanic despite difficulties with
writing. Alternatively, a student may have eye-hand
coordination problems but good motor memory and
nonvisual finger localization. Such a child may be excellent at writing but clumsy or awkward when it comes
to artistic endeavors, building a model, fixing things, or
working with a computer.
Some children harbor underlying gross motor dysfunctions with or without fine motor or graphomotor
incoordination. They may exhibit generalized gross motor delays or highly specific deficits (Sugden and Keogh,
1990). Some cannot program accurate motor responses
based on the processing of certain kinds of input data.
For example, some of them have difficulty using visualspatial information to guide their gross motor actions.
Consequently, they are inept at catching or throwing a
ball. They simply do not make accurate judgments or
estimates about trajectories in space. Others are poor at
using inner spatial data, so they have trouble interpreting proprioceptive and kinesthetic information emanating from their muscles and joints. They are said to be
lacking in body position sense, an impairment that compromises activities requiring balance and keen awareness of ones body movements. Still other children show
541
542
Social Cognition
A students social abilities are stringently tested throughout the school day. There exists a discrete neurodevelopmental function of social cognition. Some children
are extremely adept in their social cognitive abilities,
whereas others exhibit debilitating social skill deficits.
Social skill variations are discussed in detail in Chapter 38.
An account of a childs social abilities is a critical component of any complete description of his or her neurodevelopmental profile.
ACADEMIC IMPACTS
The neurodevelopmental functions enumerated here
are represented in varying clusters (of strengths and of
weaknesses) within individual children. In fact, there
are so many different combinations of dysfunctions
operating in such diverse environmental and cultural
contexts that an endless variety of performance and
behavioral patterns is encountered. This heterogeneity
constitutes further justification for avoiding the simplistic labeling or pigeonholing of struggling school-age
children. Clusters of neurodevelopmental dysfunctions
commonly result in academic delays, most conspicuously in the basic skills of reading, spelling, writing,
and mathematics.
Reading
Reading can be significantly impaired in a child who
struggles with language processing, especially at the
phonologic and semantic levels. Problems with sentence comprehension and discourse likewise can thwart
reading comprehension, especially as the demands for
understanding complex text intensify through secondary school. Attention and various forms of memory
also exert their influences, as students have to ferret
out key details and recall the relevant contents of the
top of the page while reading its last several lines so as
to splice together the overall meaning (active working
memory).
Spelling
Language also plays a pivotal role in the acquisition
of accurate spelling abilities. Students with serious
phonologic or semantic deficits are likely to be poor
spellers. Weak spelling can also be found in those who
have problems with pattern recognition, visualization,
or rule application.
Writing
Written output demands the integration of multiple
neurodevelopmental functions, including graphomotor
skill, retrieval memory (for spelling, rules, facts, letter
formation), expressive language, higher order cognition
(to generate rich thoughts), and organizational abilities.
A shortfall in any one of these areas can compromise
writing and lead to output failure, often accompanied
by a recurring refusal to do homework.
Mathematics
Mathematics calls for its unique blend of neurodevelopmental functions. Some children fail in this area
because they lack the long-term memory needed to
recall math facts automatically and precisely; others
have trouble with procedural memory (e.g., recalling
the steps in long division). Math difficulties also ensue
in the presence of weak pattern recognition or poor
active working memory. Language also is a key player
in math, and there are children who have trouble with
the complicated semantics of the subject as well as difficulty at the sentence level (so important in word problems and in processing a teachers verbal explanations).
Some students encounter problems because they have
trouble visualizing while solving word problems and
grasping the spatial elements in mathematics (such as in
measurement and in geometry). Finally, math demands
a substantial level of attention to detail and prolonged
focusing, which may cause children with attentional
dysfunction to founder.
NONACADEMIC IMPACTS
In some instances, children with neurodevelopmental
dysfunctions harbor excessive performance anxiety, overt
clinical depression, or both. Sadness, self-deprecatory
comments, diminished self-esteem, chronic fatigue, loss
of interests, and sometimes even suicidal ideation may
set in. Not uncommonly, children with neurodevelopmental dysfunctions lose motivation. As a result of their
repeated failures, they harbor a diminished sense of selfefficacy (Schunk, 1991) and come to feel that it is futile
to expend effort.
Many studies have documented a relationship between learning disorders of various types and juvenile
delinquency. The so-called JD-LD link can occur on
many levels. Highly impulsive children may be more
likely to commit crimes. Those who experience excessive academic failure and embarrassment may feel a
need to engage in macho acts aimed at impressing a
peer group because they are unable to acquire respect
through other means.
There is an intimate association between language
dysfunctions and delinquent behavior. In some instances,
543
Vignette
At age 12, Joel, a sixth grader, became increasingly difficult for his parents and teachers to handle. He was starting
to act out in school and failing to hand in assignments in English, social studies, and mathematics. His father and his
English teacher insisted that Joel was a slacker, just plain lazy. A school social worker decided he had oppositional
defiant disorder.
Joel was interested only in his small gaggle of friends and his array of video games. He insisted that he could not
stand school. This boy was a very good reader, although he seldom read independently. Joel would come alive during
class discussions, as he has strong opinions that were eloquently stated; his verbal fluency is a prized asset. But he had
problems in math since third grade; by sixth grade, he still did not know his math facts. Whenever he would seem
to have mastered them, he would go on to forget them almost entirely. However, Joels greatest academic difficulties
were seen when he had to write; he despised writing in any form. Although he was able to copy from the board, Joel
could not or would not tackle written reports or stories. He became overwhelmed when he tried to do so. Joel was
able to spell words accurately on a spelling quiz but then would misspell the same words in a paragraph. He also had
trouble recalling rules of punctuation and retrieving facts he needed in an essay. There was a gaping disparity between
the wealth of Joels ideas in a class discussion and the impoverished thoughts he could transcribe on paper. His
writing was reminiscent of that of a second- or third-grade student.
Joel was evaluated by a team including a developmental-behavioral pediatrician, a psychologist, and an educational
diagnostician. After history taking, testing, and careful examination of work samples, all concurred that this boy was
having serious problems with recall from long-term memory, especially when he had to deploy this function rapidly
with precision and also when he had to engage in simultaneous recall (as during writing). Joel revealed abundant
strengths, especially in the language, spatial ordering, and social domains.
Joel was demystified so he could understand his difficulties as well as his strengths. He was taught various
mnemonic strategies and encouraged to do his writing in stages, first brainstorming over a tape recorder and then
using a step-by-step approach toward a finished product. After that, Joel showed steady improvement in writing,
although mathematics remained a challenge for him. Joel was not labeled by the clinical team or his school. There
was a marked change in Joels moods, and he seemed motivated. He told his parents he was thinking of becoming a
journalist.
ASSESSMENT
Children with possible manifestations of neurodevelopmental dysfunction require meticulous multidisciplinary
evaluations based on differential diagnoses appropriate
for chronologic age and grade level. It is unlikely that
any single professional can assess adequately the diverse
sources and broad effects of academic underachievement. An optimal evaluation team should consist of a
pediatrician or nurse, a psychologist or psychiatrist, and
a psychoeducational specialist. The last should be either
a special educator or an educational psychologist who
can undertake a fine-grained analysis of academic skills
and subskills. Other professionals can become involved
as needed in individual cases. These additional clinicians
might include a speech and language pathologist, an occupational therapist, a pediatric neurologist, and a social
worker. The exact composition of teams and additional
consultants depends largely on local needs and accessible resources in the school and in the community.
544
Description or Examples
Rate adjustment
Volume adjustment
Complexity adjustment;
prioritizing
Staging
Format shift
Affinity use
Curriculum change
Device use
a ssessment has been performed, it is especially important to explain a childs dysfunctions and strengths
to that child. This explanation should be provided in
nontechnical, optimistic, concrete, and nonaccusatory
terms. Children can also be given an opportunity to read
about neurodevelopmental dysfunction in its varied
forms (Levine, 1990, 1994; Levine and Clutch, 2001).
Parents and teachers also need to become knowledgeable (Levine, 2001).
Demystification
Tutorial programs are commonly used to bolster deficient academic skills. Reading specialists, math tutors,
and other such professionals can make use of diagnostic
MANAGEMENT
Developmental Therapies
Considerable controversy exists regarding the efficacy of
treatments to enhance weak neurodevelopmental functions. It has not been demonstrated convincingly that
it is possible to improve substantially a childs graphomotor skills, active working memory, problem solving
proficiency, or temporal-sequential ordering abilities.
Nevertheless, some modes of developmental therapy are
widely accepted. Speech and language pathologists commonly offer intervention for children with language dysfunctions. Occupational therapists strive to improve the
motor skills of certain students with writing problems or
gross motor clumsiness. Recently, there has been considerable interest in social skills training that usually takes
the form of small group sessions in which school-age
children are helped to become more aware of the dynamics of social interaction. Coaching has become another promising option for intervention. Students receive
ongoing advice on their approaches to tasks as well as
their plans for the future; they learn to think strategically
while getting to know their own best ways of learning.
545
Advocacy
Children with developmental dysfunctions require informed advocacy. They must have their rights upheld
in the school, in the family, and in the community.
A physician can be especially helpful in advocating for a
child in school. Some children, for example, are devastated by retention in a grade. The likelihood of benefit is
minimal. A physician may need to represent the rights of
a child in opposing such grade retention as well as other
acts of public humiliation. A physician may also need to
advocate strongly for a child to receive services in school
or to benefit from modifications in the curriculum. Physicians can also advocate by becoming vocal citizens of
their communities. Serving on a school board, for example, a physician can exert a major influence on local
policy and on the allocation of resources to school-age
children with special educational needs.
Curriculum Modification
Medication
When learning difficulties are complicated by family problems or identifiable psychiatric disorders, psychotherapy may be indicated. Clinical psychologists
or child psychiatrists are able to offer long-term or
Asset Management
546
over the years. The pediatrician may be an ideal professional to assume this responsibility. With time, new
questions inevitably emerge, as a childs neurodevelopmental dysfunctions evolve while academic expectations
undergo progressive change. Because children with neurodevelopmental dysfunctions represent such a heterogeneous group, no two call for identical management
plans. Nor is it possible to predict with certainty at age
7 what the needs of a youngster will be when he or she
is 14. Consequently, affected children and their families
require vigilant follow-up plus individualized, objective
advice and informed advocacy throughout their years
in school. They can also benefit from discussion of a
childs eventual career directions (Levine, 2005).
SUMMARY
Many children and adolescents face chronic frustration
in school because they harbor subtle differences in learning. When properly evaluated, they are found to have
one or more neurodevelopmental dysfunctions. These
specific weaknesses, in such areas as attention, memory,
language, or spatial ordering, may interfere with the acquisition of traditional academic skills and may compromise seriously a childs overall academic productivity. In
addition, when unrecognized and improperly managed,
the dysfunctions can result in behavior problems, low
self-esteem, affective disorders, and delinquent tendencies. Pediatricians can play a role as an integral part of
a team, helping to elucidate and manage these dysfunctions while uncovering contributing medical problems
and complications. The pediatrician also can help demystify affected children and their parents, so that they
can understand their issues. As well, a pediatrician can
be vital in providing long-term follow-up care for these
differences in learning.
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Cambridge University Press, 1996.
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Schunk DH: Self efficacy and academic motivation. Educational Psychologist 26:207, 1991.
Shaw L, Levine MD, Belfer M: Developmental double jeopardy:
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Sugden DA, Keogh JF: Problems in Motor Skill Development.
Columbia, SC, University of South Carolina Press, 1990.
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*These
These
Part VII
56
OUTCOMESPHYSICAL
FUNcTIONING
RECURRENT AND
CHRONIC PAIN
Ashley is a 16-year-old girl with chronic daily headaches that have been nonresponsive to prophylactic
migraine medications. Ashley misses several days of school each week and is no longer participating in
competitive sports. She is also spending less time with peers. Ashley has developed a significant sleep
disturbance in which it is taking her several hours to fall asleep at bedtime. She feels ineffective in her ability
to manage headaches and holds a belief that she cannot participate in school and other important daily
activities when she has head pain. Her parents feel overwhelmed by worry about her health and well-being.
An estimated 15% to 25% of children and adolescents
suffer with recurrent and chronic pain conditions
(Perquin et al, 2000; Roth-Isigkeit et al, 2005). These
conditions may be part of an underlying chronic medical
condition, or the pain itself may be the primary problem. A variety of recurrent and chronic pain conditions
are commonly seen in pediatric offices and clinics. Evaluation and management of these conditions can present
challenges for the pediatrician because of the unclear etiology, the fact that sensible treatments often fail, and the
high level of child and family distress. In this chapter,
we review the significance of recurrent and chronic pain
for children, adolescents, and their families; the etiology
and natural history of recurrent and chronic pain problems; and evaluation and management approaches.
bowel syndrome, chronic daily headaches, musculoskeletal pain, and complex regional pain syndrome.
Chronic pain may or may not be symptomatic of underlying, ongoing tissue damage or chronic disease. It
can persist long after an initial injury has healed or other
event has occurred (typically longer than 3 months) and
no longer serves a useful warning function. Children may
experience pain related to conditions such as arthritis,
cancer, nerve damage, and Crohn disease. Cancer-related
pain and pain associated with life-limiting medical conditions, as in end-stage diseases, are other forms of serious chronic pain. Chronic and recurrent pain may be
the problem itself, as in Ashleys case, without underlying, clearly identifiable metabolic, structural, inflammatory, or degenerative etiology, as in pain associated with
functional dysregulation syndromes, including irritable
548
EVALUATION
The evaluation of the child with recurrent or chronic
pain complaints often falls on the office-based pediatric practitioner. All children with chronic pain that
is interfering with functioning in day-to-day life can
benefit from attention to the psychosocial as well as the
biomedical aspects of their pain. Evaluation and management of these problems can be complex and timeconsuming. Physicians often fear that they are missing
an organic explanation, despite lengthy, expensive, and
sometimes invasive workups. It can be difficult to identify the red flags in the history, physical, and laboratory
investigations that may suggest additional investigation
is needed. Table 56-1 presents an overview of diagnosis
and management strategies, with use of abdominal pain
as an example. There are no standard laboratory tests
that are recommended for evaluation of chronic pain
conditions. Rather, a comprehensive evaluation focused
on identification of any comorbidity, such as anxiety
disorder, depression, or pervasive developmental disorder, somatic, and psychosocial contributors is needed.
The initial evaluation and explanation to the child
and family are important and set the stage for effectively addressing the pain problem. A biopsychosocial
framework is helpful in explaining to the family that
all pain has physical and psychological contributors.
Therefore, any comprehensive evaluation and treatment
plan should address both. It is also important to communicate to the patient and family that success should
be measured not just by pain relief but by improvement
in function. Extra attention should be given to communicating sensitively with parents who will need to buy
into the evaluation and treatment plan because they
play a critical role in decreasing pain and improving
function for their child. It is often helpful to describe
pain as a neurobiologic system that can continue with
circuitry in the brain even after the reason for the initiation of the pain has long been gone (hence reasons
for lack of findings despite multiple tests). It can be
explained that the best way to alter these neural pain
matrices (pain patterns in the brain) is through physical
action (e.g., going to school) and changes in emotion
and thinking.
549
Treatment
Education of patient and family about the reasons for the pain,
with use of language describing temporarily dysfunctional
nerve signaling
Enhancement of coping skills and development of a plan for
improvement of function
Enhance sleep (good sleep hygiene; psychological and
pharmacologic methods for sleep induction and maintenance)
Cognitive-behavioral therapy, hypnotherapy, relaxation
strategies, biofeedback
Consider Iyengar yoga, physical therapy
School re-entry plan and plan for increasing academic, social,
and physical activities (use of behavioral incentives, desensitization, approximating increasing function in graded steps)
Develop a plan for eating if a food/eating aversion or panic has
developed
Somatic treatments: consider massage therapy, abdominal heat
Other treatments: acupuncture, art therapy, aromatherapy,
music therapy, and other creative ways to enhance coping
and to reduce stress
Medication
See Table 56-4
Assessment of Pain
Accurate assessment of childrens pain should include
evaluation of quality, duration, frequency, intensity,
and location of the pain as well as environmental variables that may affect pain and the impact of pain on
childrens functional status. When possible, asking children directly is the best way to learn about their pain.
For older children and adolescents, numerical pain
scales, such as 0 to 10 rating scales, will be appropriate;
for younger children, faces rating scales, which depict
pictures of faces with different gradations of pain, are
useful to elicit childrens self-reported pain intensity. It
is also important to learn what factors make pain worse
and what helps, temporal qualities, description of the
550
pain experience, and what treatment strategies (including medication and nonpharmacologic treatment) have
been tried and failed and what has helped. Pain diaries
may be useful for obtaining estimates of the frequency
and duration of pain as well as possible patterns (e.g.,
differences between school days and nonschool days)
and triggers (e.g., exams, performance stress). If a diary
is to be used, it should be for a short time only to understand more about the pain so that the child does not
focus on the pain for the purpose of recording it.
Psychosocial Assessment
Some clinicians have recommended that psychosocial
assessment begin as soon as noncoping occurs, meaning
that a child begins to miss school or to curtail participation in regular activities because of pain. Whereas the
primary care physician should gather psychosocial information as part of the clinical evaluation of the pain
problem, a referral to a psychologist or psychiatrist for a
psychosocial assessment can greatly extend this inquiry.
We believe the process of how the physician makes the
referral for a psychosocial assessment is critical to the
subsequent acceptance of psychological conceptualizations for symptoms and to management approaches and
thus should be done with appropriate care. Patients and
their families are more likely to accept a psychological
referral and not feel abandoned by their physician if it is
presented early and as a routine procedure in all cases of
persistent pain causing disruption of normal activities.
It is critical that professionals avoid dichotomization between organic and psychogenic causes of pain and pre
sent the psychosocial assessment along with the physical
investigation and follow-up. This procedure avoids the
trap of waiting for psychosocial assessment as a last resort after all other physical attempts to understand the
problem have failed.
Psychosocial assessment may consist of clinical interviews, record keeping, and observation of the interaction
among family members. A detailed clinical interview
551
MANAGEMENT APPROACHES
Counseling by the Physician
Management usually starts with counseling by the physician and may include referral for other services if these
are needed and available. It is wise to limit unnecessary
referrals because it can help reduce cure-seeking and can
discourage multiple medical investigations with unclear
benefit. Brief counseling from a physician can be of great
help to children with recurrent pain and to their parents. Some suggested content of this counseling follows.
Compliment the parents on their tremendous efforts to
help the child and let them know it is no longer necessary to treat the pain as an acute problem and that the
good news is that further diagnostic tests are not needed
for now. Reassure the parent and child, however, that
you will continue to monitor for changes in symptoms
on a routine basis. It can be helpful to set up routine
follow-up visits with the child (every 2 weeks or so) to
continue to monitor and to provide counseling.
Meeting separately with the child and parents allows
both parties to speak freely about issues, events, and
emotions when the other party is not present. Counseling can be directed toward sources of stress and other
triggers of pain. Time should be spent with the parents
to help establish a reduction of attention paid to pain
symptoms, in favor of increased attention paid to functional improvement. Table 56-3 lists suggested pain
management guidelines for parents.
Perhaps the most important element of treatment
that can be provided in counseling is around a return to
normal activity. Clear, graded plans for increasing activity should be constructed with the child and parents. It
can be explained to children and parents that functional
improvement often precedes rather than follows pain relief. It is important to prescribe setting of concrete goals
and expectations around activities like school because
many parents struggle and feel ineffective in trying to
push their child to do more. Having the child hear this
552
message about return to normal activity from the physician can be extremely helpful. Parents can be encouraged to provide incentives for the childs efforts toward
functional improvement, such as earning special privileges for reaching a school attendance goal.
Some physicians have training in relaxation, biofeedback, hypnotherapy, and related approaches, which are
effective and empirically validated tools for pain management. If they can be offered in the physicians office,
this can be of great value to the child. If these approaches
cannot be offered in the office, you may consider referral for psychological treatment.
Medications
The goals for pharmacologic treatments may include
prevention by treating acute pain well, reduction of somatic contributors (e.g., inflammation), facilitation of
nighttime sleep, treatment of comorbid psychological
disorders including anxiety and depression, and reduction of neural transmission. The use of most medications for childhood chronic pain is based on anecdotal
evidence rather than on controlled clinical studies. For
example, medications aimed at re-regulating the neural
signaling mechanism, such as low-dose amitriptyline,
although used often in clinical practice, have never
undergone empiric investigation in children with nonheadache chronic pain. Several case studies report success in treating children with complex regional pain
syndrome (previously referred to as reflex sympathetic
Referral
The majority of children with chronic or recurrent pain
can be successfully managed in the pediatric office.
Chronic and recurrent pain is most often managed with a
combination of behavioral and psychological treatments,
complementary therapies, and physical rehabilitation
approaches, with fewer children requiring medications.
553
Medication
Indication
Nonsteroidal anti-inflammatory
drugs
Tricyclic antidepressants
Ibuprofen
Inflammation, analgesia
Amitriptyline (Elavil)
Citalopram (Celexa)
Escitalopram (Lexapro)
Mirtazapine (Remeron)
Neuroleptics
Quetiapine (Seroquel)
Chlorpromazine (Thorazine)
Risperidone (Risperdal)
Beta blockers
Propranolol
Muscle relaxants
Cyclobenzaprine
(Flexeril)
Baclofen
Tizanidine (Zanaflex)
Lidoderm patches
Antiseizure medications
Gabapentin (Neurontin)
Pregabalin (Lyrica)
Topiramate (Topamax)
Topical agents
-Adrenergics
Benzodiazepines
Clonidine patches
Sleep medications
Diphenhydramine (Benadryl)
Melatonin
Desyrel (Trazodone)
Zolpidem (Ambien)
However, children with complex pain complaints, excessive disability, or comorbid psychiatric disturbance
may require referral for specialized pain care. In general,
these options will typically include referral to a pediatric
pain clinic, mental health provider, physical therapy, or
complementary and alternative therapies.
Children who receive care in a multidisciplinary pediatric pain clinic are typically offered a multicomponent
treatment involving psychological therapies, physical
therapy, and medication management under the philosophy of a rehabilitation approach to treatment.
In this approach, pain is accepted as a symptom that
might not be eradicated, and efforts are directed toward
improvement of functioning. As functioning and coping skills are improved, pain often remits as well. The
Special Notes
Use low dose at night
Lower gastrointestinal tract
upset
Newer drug, less sedating
than citalopram; lower
gastrointestinal tract upset;
needs close monitoring
Studied in adults with
fibromyalgia
Purported to have lower side
effect profile than venlafaxine;
studied only in adults; needs
close monitoring
Needs close monitoring
Psychiatry consult needed
Psychiatry consult needed
Psychiatry consult needed
Sedating, low side effect profile
Studied in adult populations
Can impair memory,
concentration
Helpful when child has high
body focus
Infrequently used in pediatric
populations
Up to 3 patches, on 12 hours
and off 12 hours
Useful with opioid withdrawal
Not good for sleep, blocks stage
IV sleep; rarely used
Recommended for short-term
use only
Over-the-counter supplement,
low side effect profile
Sedating
No data available on long-term
use
specific structure of each program differs; some provide inpatient rehabilitation, whereas other programs
exclusively treat children on an outpatient basis. For
example, the effectiveness of an inpatient residential pediatric pain program involving physiotherapy and psychological therapy was recently evaluated in a group of
adolescents with chronic pain and pervasive disability,
and good support was found for this multicomponent
treatment (Eccleston et al, 2003). We refer the reader to
Zeltzer and Schlank (2005) for a listing of pediatric pain
and gastrointestinal pain programs in the United States,
Canada, and internationally.
Referral for psychological treatment is often very helpful but may be difficult to arrange in many communities. It can be useful to talk with physician colleagues
554
about their relationships with mental health care providers to identify recommended clinical psychologists,
psychiatrists, social workers, or counselors. Many mental health professionals do not have adequate training
in pain management or in a biopsychosocial model of
care. For identification of appropriate mental health
providers, it is useful to inquire about their experience
with children and adolescents, with treatment of children with medical problems, and in use of cognitivebehavioral therapy. The best referral options will have
affirmative responses to each of these areas of inquiry.
There have been numerous studies that focus on
treatment of recurrent and chronic pain, especially
abdominal pain and headaches, with psychological
interventions. About a dozen controlled trials of psychological therapy for children and adolescents with
chronic pain were recently reviewed (Eccleston et al,
2002). These authors concluded that there is strong
evidence that psychological therapies, principally relaxation and cognitive-behavioral therapy, are effective in
reducing the severity and frequency of chronic pain in
children and adolescents. The cognitive-behavioral therapy interventions primarily involved brief, standardized
treatments in which children were taught specific coping
skills (e.g., positive self-statements, relaxation).
For example, in a recent study, cognitive-behavioral
family intervention was compared with standard pediatric care for recurrent abdominal pain (Robins et al,
2005). Children in the cognitive-behavioral family intervention group received five 40-minute sessions and were
trained in relaxation skills and positive self-talk, and
parents were taught to limit secondary gains from sick
behavior. The standard medical care group received customary medical treatment consisting of follow-up office
visits, education, support, and medications as deemed
appropriate by the treating physician. Children who
received the cognitive-behavioral intervention reported
significantly less pain after treatment and at 1-year follow-up compared with children receiving standard care,
providing support for the use of cognitive-behavioral
family interventions in children with abdominal pain
(Robins et al, 2005).
Referral to physical therapy can be an important element of treatment for many children with chronic pain.
If a child is extremely deconditioned, physical therapy
can serve as one method in working toward a return
to normal activities. Physical therapy and rehabilitation approaches typically focus on body conditioning,
desensitization, enhancement of flexibility, and strength.
Body conditioning may also be accomplished through
gym, pool, Pilates, or yoga, although these approaches
have not yet undergone empiric evaluation.
There have been several descriptions of intensive physical therapy and rehabilitation programs for
the treatment of complex regional pain syndrome in
children. In one study, 103 children diagnosed with
complex regional pain syndrome were entered into an
intensive physical therapybased exercise program in
which they participated in treatment for 5 to 6 hours per
day for a period of 6 to 8 weeks (either as inpatients or
SUMMARY
Recurrent and chronic pain in childhood is a frequent
presenting problem and may be due to chronic disease or
to functional causes. Most children will have no serious
or easily treatable physical cause of the pain. Instead,
a biopsychosocial understanding of the pain is needed
for evaluation and management of the problem. Primary
care physicians can help prevent and relieve childrens
pain. An approach that establishes trust, rapport, and
acceptance by the child and family will facilitate functional recovery. Detailed clinical interviews with child
and parent are important to identify possible psychosocial and family factors that may contribute to problems
in coping with pain. Counseling by the physician should
focus on guiding the child in a return to normal activity and aiding parents in encouraging adaptive coping
REFERENCES
Borsook D, Becerra LR: Breaking down the barriers: fMRI applications in pain, analgesia and analgesics. Mol Pain 2:30, 2006.
Campo JV, Perel J, Lucas A, et al: Citalopram treatment of pediatric recurrent abdominal pain and comorbid internalizing disorders: An exploratory study. J Am Acad Child Adolesc Psychiatry
43:1234-1242, 2004.
Drossman DA: What does the future hold for irritable bowel syndrome
and the functional gastrointestinal disorders? J Clin Gastroenterol
39(Suppl):S251-S256, 2005.
Eccleston C, Malleson PN, Clinch J, et al: Chronic pain in adolescents:
Evaluation of a programme of interdisciplinary cognitive behaviour therapy. Arch Dis Child 88:881-885, 2003.
Eccleston C, Morley S, Williams A, et al: Systematic review of randomised controlled trials of psychological therapy for chronic pain
in children and adolescents, with a subset meta-analysis of pain
relief. Pain 99:157-165, 2002.
Fearon P, Hotopf M: Relation between headache in childhood and
physical and psychiatric symptoms in adulthood: National birth
cohort study. BMJ 322:1145, 2001.
Hunfeld JA, Perquin CW, Duivenvoorden HJ, et al: Chronic pain
and its impact on quality of life in adolescents and their families.
J Pediatr Psychol 26:145-153, 2001.
Langeveld JH, Koot HM, Loonen MC, et al: A quality of life instrument for adolescents with chronic headache. Cephalalgia 16:
183-196; discussion 137, 1996.
Lee BH, Scharff L, Setbna NF, et al: Physical therapy and cognitivebehavioral treatment for complex regional pain syndromes.
J Pediatr 141:135-140, 2002.
Mikkelsson M, Sourander A, Salminen, JJ, et al: Widespread pain
and neck pain in schoolchildren. A prospective one-year follow-up
study. Acta Paediatr 88:1119-1124, 1999.
Palermo TM: Impact of recurrent and chronic pain on child and family
daily functioning: A critical review of the literature. J Dev Behav
Pediatr 21:58-69, 2000.
555
57
COLIC: PROLONGED
OR EXCESSIVE CRYING
IN YOUNG INFANTS
William B. Carey
Vignette
A frantic, disheveled mother has brought her 4-week-old infant to the pediatrician for a visit. Doctor,
we cant stand all this crying any more. He has been yelling ever since we brought him home. He will
not let me put him down. I have to carry him around all the time. I am exhausted. My husband and
I are fighting about what to do. Please help us now. We cannot wait until he is three months old.
DEFINITION
There is no standard definition of colic. Pediatrics texts
and advice books for parents usually (but not always)
present a brief section on a phenomenon variously designated by terms such as paroxysmal fussing in infancy,
infantile colic, evening colic, or 3-month colic.
Usual descriptions of colic indicate that the condition begins soon after the infant comes home from
the newborn nursery and is likely to persist until he
or she is 3 or 4 months of age. The crying is characterized as intense, lasting for up to several hours at a
time, and usually occurring in the late afternoon and
evening. The affected infant is typically pictured as
drawing up the knees against the abdomen and expelling much flatus. He or she can appear hungry but
is not quieted for long by further feeding or other
attempts at soothing. The infant eats well and grows
normally, however. The usual explanation offered is
that the crying is caused by abdominal pain of intestinal origin.
The standard textbook description in the preceding
paragraph is inadequate on several counts:
1. Without a more precise definition of the duration of
the crying, it can be extended to apply to almost all
young infants at one time or another.
2. Such imprecision makes most studies of the phenomenon of questionable value. Writers on the subject
558
DIFFERENTIAL DIAGNOSIS
Because the phenomenon under discussion is prolonged
or excessive crying in otherwise well young infants,
this condition must be distinguished from two others:
normal crying and secondary excessive crying resulting
from faulty feeding techniques or physical problems in
the infant.
Normal Crying
Figure 57-1. Im sensitive and irritable. Please stop jiggling. (Photograph by H. Belluci.)
559
MANAGEMENT
Most advice dealing with the management of prolonged
or excessive crying is unreasonably pessimistic about the
effectiveness of professional intervention. This defeatism
is unjustified; appropriate measures are usually successful
in reducing crying to acceptable amounts in 2 to 3 days.
History
Management begins, as elsewhere in pediatrics, with an
adequate history. The first step is to define the symptom:
the intensity, duration, and frequency of the crying. Parents often say that the baby is too gassy or too hungry, and the clinician must sift the evidence to discover
that the crying is the real problem. A good way to make
the parents description of the infant more precise is to
ask for a detailed narration of the infants typical day or
for a diary of the crying. Information about the infants
temperamental characteristics can usually be adequately
based on brief descriptions of the infants sensitivity, irritability, intensity, and soothability, but the clinician or
researcher may choose to use a more detailed questionnaire (see Chapter 78). Having the parents demonstrate
their soothing techniques during the examination can be
helpful in revealing practices that require modification.
The rest of the medical history should be obtained
in the usual manner but with an enrichment to include
parental concern about the pregnancy and the child and
anxieties related to their own experience as children or
with rearing previous children or to inadequate family
support and other stresses. Family psychosocial stressors
should be sought and dealt with appropriately, but they
will not necessarily be found, and if uncovered, they are
not necessarily causative of or resulting from the prolonged crying.
Physical Examination
The physical examination seldom reveals anything useful in regard to the diagnosis or management of the crying but is an absolutely necessary part of the procedure.
Most parents are doubtful about reassurance that is not
preceded by a careful assessment of the infant. For example, a hasty prescription of sedative drops over the
telephone is generally not successful.
Laboratory tests, however, are usually not necessary
and should not be performed unless specifically indicated
560
Counseling
Counseling has proved to be the most effective method
available for helping parents cope successfully with prolonged crying (Carey, 1994). Standard lectures on infant
care and simple empathy with the distress of the parents have not been shown to be successful. Counseling
should be individualized to the particular situation and
should include these main topics:
1. The infant is not sick. The physician should reassure the parents that the physical examination has
not revealed any problem in the infants health.
The crying may mean distress but is seldom due to
pain. Antecedent fears about the infant and anxieties
resulting from the crying can be allayed. Counseling
about prolonged or excessive crying and its management should avoid the medical model that there
is probably something, as yet unconfirmed, wrong
with the infants gastrointestinal tract, nervous system, allergic responses, or general viability. Similarly,
the parents must be unburdened of unjustified worry
or guilt about their caregiving abilities. Reassurance
about their competence is helpful. Pertinent psychosocial stressors that possibly have contributed to the
crying should be discussed.
2. Education about infant crying. A comparison of the
particular infants crying with the average for the
age should be followed by an educational discussion
that includes information such as the following: All
young infants are irritable and fussy and cry to some
degree, the average in this period being 2 to 3 hours a
day. Normal infants vary in how much they cry, how
intense the crying is, how sensitive they are to stimuli, and how easily soothed they are. Many parents
do not know that fatigue is a common reason why
infants cry. Infant crying affects parents feelings and
behavior, such as marital satisfaction and self-esteem.
Parents react differently to infant crying, with varying amounts of guilt, anger, and fear and with stimulation, attempts at soothing, and often overfeeding
of the infant. Thus, excessive crying is probably the
result of a poor fit between the infants needs and
predispositions and the present parental response.
3. The excessive amount of crying can be reduced. As
stated, parental handling of the infant may require
alteration. Parents with fussy infants usually are doing
too much or doing the right things at the wrong times
and they need to shift their tactics. They usually will
be successful if they soothe moreas with a pacifier,
repetitive sound, swaddling, swinging, and a heating pad or hot-water bottleand stimulate lessas
with decreasing picking up and feeding the infant
in response to every cry. Parents need to learn to be
more selective as to when they pick up their crying
infant and to refrain from responding to every whimper. This does not mean a lessening of expressions
of affection. A quiet, dimly lit environment with a
minimum of unnecessary handling and correction of
Other Measures
The use of medication for temporary relief of excessive crying is controversial. Drugs are usually unnecessary. In extreme cases, however, such as with serious
sleep deprivation in the parents, medication may have
a place in management. The most often recommended
drugs are phenobarbital elixir, 10 mg three times daily,
PROGNOSIS
Standard pediatric texts and conventional wisdom repeat the notion that colic usually goes away by itself by
3 or 4 months of age and that little can be done to alter that fate. However, clinical experience and reported
studies (Barbero et al, 1957; Carey, 1968; McKenzie,
1991; Taubman, 1988; Wolke et al, 1994) indicate that
excessive crying in young infants can be sharply reduced
within a few days in most instances if appropriate steps
are taken. Some infants and some situations take longer,
but virtually all respond to suitable management. Conversely, with inappropriate care, the prolonged crying is
likely to continue until 3 or 4 months of age.
Some short-term consequences are commonly seen.
A temperamental predisposition to be irritable or sensitive will probably continue to be evident for at least the
next few months and probably longer. Parental overattentiveness to the infant or more serious destabilizations
of maternal functioning may still be present unless the
family and their professional advisors have been able to
561
PREVENTION
No investigation has yet proved that any particular
early measures will reduce the subsequent occurrence of
colic or excessive crying. Some theoretical possibilities
deserve mention.
We do not know how to alter the apparently predisposing temperamental or physiologic factors. We are
not even fully certain which are the most important. It
may become possible, however, by the use of a measure such as the Brazelton Neonatal Behavioral Assessment Scale or some derivative of it to identify infants in
whom excessive crying is particularly likely to develop.
So far, no such evidence has become available. Furthermore, traits determined in the newborn period have so
far been shown to have very low stability.
It is possible to educate all parents, even starting prenatally, about infant crying and soothing. Some have
no idea that even completely normal young infants cry
about 2 hours or more a day. Parents often are unaware
of the importance of infant fatigue and that a tired infant usually does better if not picked up.
The alert clinician also deals with parental anxieties whenever they are expressed. Concerns revealed
prenatally or in the newborn nursery can lead to inappropriate handling of the infant if they are not resolved
satisfactorily.
SUMMARY
Much of the general public and many primary care
physicians regard colic as an incomprehensible and
unmanageable condition that brings great distress to
families. Unlike most discussions of this subject, this
chapter reports that prolonged crying in young infants
is sufficiently understandable in most cases to allow a
rational approach that is usually effective. The strategy
is to lessen the poorness of fit between the irritable or
sensitive behavioral predisposition of the infant and the
particular handling techniques of the family.
562
REFERENCES
Barbero GJ, Rigler D, Rose JA: Infantile gastro-intestinal disturbances:
A pilot study and design for research. Am J Dis Child 94:532,
1957.
Barr RG: The colic enigma: Prolonged episodes of a normal predisposition to cry. Infant Mental Health J 11:340, 1990.
Barr RG, Hopkins B, Green JA (eds): Crying as a Sign, a Symptom &
aSignal Cambridge, Cambridge University Press, 2000.
Blum NJ, Taubman B, Tretina L, et al: Maternal ratings of infant
intensity and distractibility. Arch Pediatr Adolesc Med 156:286290, 2002.
Brazelton TB: Crying in infancy. Pediatrics 29:579, 1962.
Carey WB: The effectiveness of parent counseling in the management
of colic. Pediatrics 94:333, 1994.
Carey WB: Cows milk formula and infantile colic [letter to the editor]. Pediatrics 84:1124, 1989.
Carey WB: Colic: Primary excessive crying as an infant-environment
interaction. Pediatr Clin North Am 31:993, 1984.
Carey WB: Clinical applications of infant temperament measurements.
J Pediatr 81:823, 1972.
Carey WB: Maternal anxiety and infantile colic: Is there a relationship? Clin Pediatr 7:590, 1968.
Lester BM, Barr RG (eds): Colic and Excessive Crying. Report of the
105th Ross Conference on Pediatric Research. Columbus, OH,
Ross Products Division, Abbott Laboratories, 1997.
58
The feeding of infants and children by caregivers is a primary focus of their mutual interactions that is affected
by many factors including the cultural setting, parental
experience, the childs developmental level, and temperament. Parents experience a variety of satisfactions and
worries and frequently turn to their medical caregivers
for help. Concerns about the content and amount of the
food consumed are frequent and include issues such as
rate of weight gain, spitting up, fussiness, food dislikes,
and pica. Opportunities for anticipatory guidance and
prevention of behavior problems are numerous.
v ariables. To encourage a pleasurable experience associated with feeding, the child-parent dyad must find a
common ground to maintain a nurturing encounter.
Individual variation in both child and parent temperaments guides the feeding interaction. Early in a childs
life, effective parents learn to respond to subtle feeding
cues that reflect hunger, satiety, and the desire to feed
slower or faster. Infants and children often develop predictable patterns of feeding behavior, and parents participate by developing good observation skills and reading
the infants cues accurately. Whereas many parents naturally learn the value of monitoring and responding to
behavioral cues, others benefit from a supportive family
member or health care professional who can guide the
process (Satter, 1990).
Multiple events in early childhood ensure the development of a sense of basic trust. The achievement of
this psychological task requires predictable, pleasurable,
and secure feelings. At around 3 months of age, the child
learns to anticipate feeding routines and is more interested in the feeding activities of others. The enormous
pleasure derived from sucking when fed by a responsive
caregiver and the self-satisfaction that comes later with
independent feeding fuel the development of basic trust.
The introduction of solid foods between 4 and
6months of age is a nutritional and social landmark.
Solid foods provide the infant with an opportunity
to explore new textures, smells, colors, and tastes of
foods. Other than the requirement at 6 months for
additional iron found in some solids, nutrients in breast
milk alone are adequate for the first 12 months for fullterm infants. Solids, however, promote development by
encouraging the use of new motor skills, visual milestones, and social behaviors. At around 6 months of
age, tongue thrusting behavior decreases as the ability to chew emerges, head and trunk control allow the
infant to sit upright, and the ability to reach for and
grasp objects develops in association with hand-eye
coordination skills. Steady sitting is associated with
readiness for the use of a cup. A pincer grasp and effective hand-eye coordination are requirements for eating
finger foods. The infant has more control over choice
of food type and amount with exploration and experimentation during feeding.
Similar to play in late infancy and among toddlers,
feeding explorations are often accompanied by messy
563
564
B
Figure 58-1. Typical toddler messiness.
tables and messy kids. Self-discovery and mastery of individual tasks inevitably require a messy environment
(Fig. 58-1). Parental response to the events modulates
the childs experience with exploration in general and
with feeding specifically. Parents should be encouraged
to respect the childs quest for autonomy and mastery
over feeding. Parents can be advised that although new
foods tend to be rejected initially, preference for novel
foods increases with repeated exposure (Sullivan and
Birch, 1994). Clinicians should be sensitive to temperament differences that may guide a childs interest, tempo,
and responses to new foods.
Feeding is central to the development of autonomy
in the second and third years of life. Motor skills (to
independently discover, prepare, and pick up food),
language skills (to express desires for food now!), and
psychological development (to convey needs through
strong feelings, to be a ggressive and egocentric) come
together in the toddler to make feeding, at times, a
dramatic family event. Independent feeding at this age
can be viewed as one component of a childs journey
toward self-regulation, self-determination, and psychological separation. Sleeping, playing, verbal expression,
and toilet training are other components of this same
journey. As with all these emerging skills, learning
about feeding occurs at different rates, and setbacks (or
regression) may follow intercurrent events in the family
(Hammer, 1992).
Parents are most responsive to guidance around nutritional concerns when they can be framed in the context of developmental skills (Dixon and Stein, 2006).
This approach to anticipatory guidance (and feeding
problems) encourages parents to respond to a childs
cues and needs at a particular developmental age. As
illustrated in Table 58-1, the most significant changes
and challenges to feeding occur in the first 3 years when
the ground rules for feeding change frequently with
emerging neurodevelopmental milestones.
565
Behavioral-Developmental Abilities
Newborn2 months
Primitive reflexes (rooting, sucking, swallowing) facilitate feeding and quickly become organized into a whole
pattern of behavior; hunger cry initiates feeding interaction; minimal vocal, visual, or motor activity during
feeding
More alert and interactive during feeding; explosive cough to protect self from aspiration; beginning ability to
wait for food; associates mothers smell, voice, and cradling with feeding; hand-to-mouth behavior quiets infant,
increases interest in mouthing activities
Readiness for solids; excellent head and trunk control; reaching for objects; raking grasp; increased hand-to-mouth
facility; loss of extrusion reflex of the tongue; may purposefully spit out food as part of food exploration;
adaptation to introduction to solids may be affected by infants temperament
Sits alone with a steady head during sitting feedings; chewing mechanism developed; holds bottle; vocal eagerness
during meal preparation; much more motor activity during feeding
Finger food readiness; thumb-forefinger grasp (i.e., inferior pincer); grasps spoon but cannot use it effectively; feeds
self crackers and so on; enjoys new textures, tastes; emerging independence
Increasing determination to feed self; rim pincer grasp; drops food off highchair onto floor to see where it goes;
holds cup but frequently spills it; more verbal and motor behavior during feeding
Demands to feed self without help; decreased appetite and nutritional requirements; improved cup use (both hands);
uses spoon, fills poorly, turns at mouth; can use spoon as extension of hand; messy play
Eats rapidly, short feeding sessions; wants to be motorically active (too busy to eat); fairly good use of spoon and
cup; enhanced ability to wait for food; plays with food to elicit response from parent
Feeds self, using combination of utensils and fingers; verbalizes eat, all gone; asks for food; negativism emerges,
says no when really wanting offered food; wants control of feeding situation
Uses fork; ritualistic, repetitive at mealtimes; food jags, all one food at a time; dawdles; likes to help set and clear
table; may begin to help self to refrigerator contents
Spills little; uses utensils well; washes hands with minimal help; likes food preparation; reasonable table manners
when eating out
Serves self; choosy about food; resists some textures; begins to request foods seen on television ads (especially junk
food); makes menu suggestions; likes to assist in washing dishes; helps in food preparation
Uses knife; assists in preparing and packing own box lunch; can be responsible for setting and clearing table; aids
younger siblings request for food or drink
Does dishes independently and willingly; increases pressure to buy junk food; interested in, often critical of, and
attempts to negotiate about daily menu; manages money for school meal ticket
Enjoys planning and preparing simple family meals; wants supplemental spending money to buy snacks when away
from home; more reticent to try new foods; resists kitchen chores
2-4 months
4-6 months
6-8 months
8-10 months
10-12 months
12-15 months
15-18 months
18-24 months
2-3 years
3-4 years
4-5 years
5-6 years
6-8 years
8-10 years
Modified from Dixon SD, Stein MT: Encounters with Children: Pediatric Behavior and Development, 4th Ed. Philadelphia, Elsevier Mosby, 2006.
566
psychosocial evaluation. Caution should be taken in assuming that a behavioral or interactional problem is the
cause for underfeeding. A common form of mild failureto-thrive can be seen in infants and toddlers who exhibit a transient but dramatic weight loss after a series of
common intercurrent infections. These frequent febrile
illnesses may be associated with irritability, painful oral
lesions, sore bottoms, and anorexia. Even though the
infant or toddler may recover quickly from the illness,
feeding patterns may not rebound as efficiently, especially when a parent perceives the child as vulnerable or
fragile. A parent at risk for depression, substance abuse,
or other significant psychosocial stress may not adapt
effectively to the childs changing feeding behaviors. Attentive observations of parent-child interactions in the
office, a 2-day nutritional diary, and a clear explanation
of the effect of illness on appetite and temporary weight
loss begin the evaluation and treatment process.
does not respond to these techniques or when the feeding interaction is chaotic and stressful, an examination
of maternal-child interactions and stresses in the family
is usually helpful.
Regurgitation may also be a sign of overfeeding. At
other times, the only clinical clue may be excessive weight
gain. Caution in infancy is recommended because many
breastfed infants are chubby in the first year. Bottle-fed
infants who gain more than 1 ounce each day or who
consume more than 35 ounces of formula each day may
be overfeeding. In early childhood, overfeeding is usually
responsive to education of parents about appropriate
weight gain and alternative ways to comfort and soothe.
A similar approach is appropriate for older children after an evaluation of the familys mealtime behaviors, the
food quantities and types available to the child, and the
childs functional psychosocial status (see Chapter 61).
ALTERNATIVE DIETSNUTRITIONAL
AND BEHAVIORAL CONSIDERATIONS
For a variety of reasons, some parents and older children
choose to consume foods in a pattern outside the cultural mainstream. These alternative diets are embraced
567
SUMMARY
Healthy feeding patterns and feeding associated with
physical and behavioral symptoms during childhood
can be understood in the context of a childs development and parent-child interactions. This chapter reviews the components of the parent-child dyad that
affect the feeding process with an emphasis on attachment, temperament, the environment, and the parents
psychological health. Cultural factors (e.g., co-sleeping)
and social trends that have an impact on feeding are
discussed. Common feeding concerns that parents bring
to pediatricians are reviewed from the perspective of an
interaction between a childs development, physiology,
and parental responses.
REFERENCES
American Heart Association, Dietary Recommendations for Children
and Adolescents: A Guide for Practitioners. Pediatrics 117:544559, 2006.
Davis CM: Self-selection of diet experiment: Its significance for feeding in the home. Ohio State Med J 34:862, 1938.
Dixon SD, Stein MT: Encounters with Children: Pediatric Behavior
and Development, 4th ed. Philadelphia, Elsevier Mosby, 2006.
568
59
DISORDERED EATING
BEHAVIORS:
ANOREXIA NERVOSA
AND BULIMIA NERVOSA
Eric Sigel
OVERVIEW
The eating disorders represent one of the most complex
biopsychosocial illnesses that children and adolescents
experience. They are challenging to understand and not
easy to treat. Youths who are struggling with an eating
disorder are often secretive about their illness, so parents and health care providers often do not recognize
it until there are serious medical effects. This chapter
outlines the context in which eating disorders develop,
explains the differences between the eating disorders,
and increases the clinicians ability to recognize and to
treat eating disorders.
ETIOLOGY
In general, it is thought that patients have a genetic
susceptibility to development of eating disorders. Factors from the environmentstressors such as changes
at home or social pressure to be thininfluence the
biologic milieu, setting into motion a process that ultimately leads to the development of eating disorders.
Genetic Contribution
Evidence supports a genetic predisposition for development of eating disorders (Bulik and Tozzi, 2005). There
is a 7% incidence of anorexia nervosa in first-degree
relatives of anorexic patients compared with a 1% to
2% incidence in the general population. Twin studies
have shown a 55% concordance rate in monozygotic
twins compared with 7% in dizygotic twins. Twin studies estimate the heritability of anorexia nervosa (AN) to
be between 33% and 84% and that of bulimia nervosa
(BN) to be between 28% and 83%. A study of males
with AN showed a relative risk of 20% for first-degree
female relatives. Genomic regions on chromosome 1 for
AN and chromosome 10 for BN are likely to harbor
susceptibility genes.
Neurohormonal Contribution
Leptin, a hormone secreted by adipocytes that regulates energy homeostasis and satiety signaling, is abnormal in patients with AN (Chan and Mantzoros, 2005),
Psychological Factors
Traditional psychological theory has suggested several
factors that might contribute to the development of
eating disorders. Enmeshment of mother and daughter
to the point that the teenager cannot develop her own
identity (a key developmental marker of adolescence)
may be a predisposing factor. The teenager may cope
by asserting control over food, as she senses her lack of
569
570
control in the developmental realm. A second theory involves father-daughter distancing. As puberty progresses
and a girls sexuality blossoms, a father may experience
difficulty in dealing with his daughter as a sexual being and may respond by withdrawing both emotionally
and physically. The teenage girl may intuitively recognize this and subconsciously decrease her food intake to
become prepubertal again. A third theory is related to
puberty itself. Some teenagers may fear or dislike their
changing bodies. By restricting food intake, they lose
weight, stop menstruating, and effectively halt pubertal
development.
Societal Influence
Society has provided the message that being thin or muscular is necessary for attractiveness and success. Youths
are bombarded by images throughout all types of media
that highlight body types that are unrealistic to attain
but serve as models of beauty and masculinity. Messages
about fat being bad and ugly are pervasive, and modern
society has created readily available tools that contribute to the evolution of eating disorders, including fatfree foods, diet aids, and pro-anorexia Web sites that
teach youths how to have an eating disorder. Genetic
predisposition, psychological factors, and environmental
pressures combine to create a milieu that allows eating
disorders to develop in todays youth.
INCIDENCE
Among teenage girls in the United States, AN is the
third most common chronic illness. The incidence in
the United States has been increasing steadily since the
1930s. Most studies show that 1% to 2% of teenagers develop AN and 2% to 4% develop BN (Yager and
Anderson, 2005). Adolescents outnumber adults 5 to 1,
although the number of adults with eating disorders is
rising. The incidence is also increasing among younger
children. Prepubertal youths often have significant associated comorbid psychiatric diagnoses. Men represent
approximately 10% of the total eating disorder population, although recent studies show increasing prevalence
in men (Woodside et al, 2001). The increasing number
of men diagnosed with eating disorders correlates with
the increased media emphasis on muscular, chiseled appearance as the male ideal. Binge-eating disorder has a
1.1% incidence in teenagers.
Many youths engage in eating disorder behaviors. In
the recent Youth Risk Behavior Survey (Centers for Disease Control, 2006) of U.S. teenagers, 62% of girls and
30% of boys were attempting to lose weight during the
preceding 30 days of the survey. Twelve percent of youths
fasted for more than 24 hours to lose weight; 6.1% of
youths had used diet pills, powders, or liquids to lose
weight (8.1% of girls and 4.6% of boys). Self-induced
vomiting or laxative use (or both) is common; 6.2% of
girls and 2.8% of boys used one or the other. Fortysix percent of girls and 30% of boys reported at least
one bingeing episode during their lifetime. Although
the number of youths with full-blown eating disorders is
low compared with these practices, it is alarming that so
many youths experiment with unhealthy weight control
ANOREXIA NERVOSA
Demographics
Anorexia is found in all racial and ethnic groups (Shaw
et al, 2004), although diagnosis is more common in
middleupper middle class, white girls. Youths diagnosed
with AN are typically high achieving academically. Those
involved in gymnastics, figure skating, and ballet
activities that emphasize (and in which coaches often
require) thin bodiesare at higher risk for AN than
are children in sports that do not emphasize body image. Sudden changes in dietary habits, such as becoming
vegetarian, may be a first sign of AN, especially if the
change is abrupt and without good reason.
Diagnosis
Table 59-1 lists the diagnostic criteria for AN according to the Diagnostic and Statistical Manual of Mental
Disorders, 4th edition (DSM-IV). There are two forms
of AN. In the restricting type, patients do not regularly
engage in binge eating or purging. In the purging type,
classic AN is combined with binge eating or purging behavior (or both). Differentiation of the two is important because of differing implications for prognosis and
treatment. In addition, there is debate about criteria for
AN; some experts have argued to eliminate amenorrhea
as a specific criterion. Although patients may not demonstrate all features of AN, they may still exhibit the
deleterious symptoms associated with AN.
Clinical Presentation
Recognition of the clinical features of AN (Miller et al,
2005; Rome et al, 2003) is crucial, especially in assessing those with developmental disabilities who may not
be able to clearly state intentional weight loss. In addition, those with AN are often secretive about their
illness, and a clinician will need to recognize the symptoms and signs of AN first to arrive at a diagnosis. In the
teenager who is not ready to share his or her concerns
about body image, the clinician may find clues by carefully considering presenting symptoms. Any significant
weight loss should lead the clinician to consider AN,
and weight loss from a baseline of normal body weight
is an obvious red flag. Keeping up-to-date growth charts
is essential to help interpret any changes that may have
occurred (Fig. 59-1). In addition, AN should be considered in any girl presenting with secondary amenorrhea.
Physical symptoms are usually secondary to weight loss
and proportional to the degree of malnutrition and the
rate of weight loss. The body effectively goes into hibernation, becoming functionally hypothyroid (euthyroid
sick) to save as much energy as possible. Body temperature decreases, patients report being cold, and they
may present with cold and blue hands and feet. Patients
become bradycardic, especially in the supine position.
Dizziness, lightheadedness, and occasional syncope may
ensue, as orthostasis and hypotension secondary to impaired cardiac function occur. Left ventricular mass is
decreased (as all striated muscle throughout the body
loses mass), stroke volume is compromised, and peripheral resistance is increased, contributing to left ventricular systolic dysfunction. Patients can develop prolonged
QT syndrome and increased QT dispersion, putting them
at risk for cardiac arrhythmias (Panagiotopoulos et al,
2000). Hair thins, nails become brittle, and the skin is
dry. Lanugo develops as a primitive response to starvation. The gastrointestinal tract may be affected (Benini
et al, 2004). Inability to take in normal quantities of
food, early satiety, and gastroesophageal reflux can develop as the body adapts to reduced intake. The normal
gastrocolic reflex may be temporarily lost because of
lack of stimuli, leading to delayed gastric emptying and
constipation. Neurologically, patients may experience
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Laboratory Findings
Most organ systems can potentially suffer some degree
of damage in the anorexic patient (Table 59-3), related
to both severity and duration of illness (Miller et al,
2005). Initial screening should include complete blood
cell count with differential; serum levels of electrolytes,
blood urea nitrogen/creatinine, phosphorus, calcium,
Figure 59-2. Severe emaciation with characteristic physical findings of anorexia nervosa.
Differential Diagnosis
If the diagnosis is unclear (i.e., the patient has lost a significant amount of weight but does not have typical body
image distortion or fat phobia), the clinician must consider the differential diagnosis for weight loss in adolescents. This includes inflammatory bowel disease, diabetes,
hyperthyroidism, malignant disease, and depression. Less
common diagnoses include adrenal insufficiency and malabsorption syndromes such as celiac disease. The history
and physical examination findings should direct laboratory and radiologic evaluation.
573
Hematologic
Bradycardia
Postural hypotension
Arrhythmia, sudden death
Congestive heart failure (during
refeeding)
Pericardial effusion
Mitral valve prolapse
Electrocardiographic
abnormalities (prolonged
QT, low voltage, T-wave
abnormalities, conduction
defects)
Leukopenia
Anemia
Thrombocytopenia
Erythrocyte sedimentation
rate
Impaired cell-mediated
immunity
Endocrine
LH, FSH
T3, rT3, T4, TSH
Irregular menses
Amenorrhea
Hypercortisolism
Growth retardation
Delayed puberty
Gastrointestinal
Dental erosion
Parotid swelling
Esophagitis, esophageal tears
Delayed gastric emptying
Gastric dilatation (rarely
rupture)
Pancreatitis
Constipation
Diarrhea (laxative abuse)
Superior mesenteric artery
syndrome
Hypercholesterolemia
Liver function test results (fatty
infiltration of the liver)
Metabolic
Dehydration
Acidosis
Hypokalemia
Hyponatremia
Hypochloremia
Hypochloremic alkalosis
Hypocalcemia
Hypophosphatemia
Hypomagnesemia
Hypercarotenemia
Neurologic
Cortical atrophy
Peripheral neuropathy
Seizures
Thermoregulatory
abnormalities
REM and slow-wave
sleep
Renal
Hematuria
Proteinuria
Renal concentrating
ability
Skeletal
Osteopenia
Fractures
FSH, follicle-stimulating hormone; LH, luteinizing hormone; T3, triiodothyronine; rT3, reverse T3; T4, thyroxine; TSH, thyroid-stimulating hormone.
574
Outpatient Treatment
Once the need for inpatient medical care is ruled out,
practitioners and families together can pursue treatment
in the outpatient setting. It is generally recommended to
use a multidisciplinary team approach if it is available.
Overriding goals of treatment are to have patients achieve
at least 90% to 95% of their healthy body weight, resume menstruation, eat in a normal manner, and be free
of the persistent eating disorder thoughts that dominate
their thinking. Weekly goals should be discussed with
youths and their parents as well as with other team members. The initial goal is to reverse the catabolic state and
weight loss. Patients in general should increase calorie
intake 250 kcal every 2 to 3 days, depending on their
present calorie intake and degree of medical side effects,
until they start gaining weight consistently. Weight restoration goals can be 0.2 to 0.5 kg per week, which
often requires 2500 to 3000 kcal per day. The practitioner usually needs to recommend cessation of physical
activity as well. Activity can then be slowly introduced
back into the daily routine once a patient demonstrates
steady weight gain. Careful monitoring for medical instability and weight loss is important in determining
whether an increased level of care is needed at any time
Vignette
The parents of Jake, a 15-year-old boy, have been concerned about his energy level. He has recently started to get tired
easily, and although he continues tennis practice (#2 singles varsity squad), he falls asleep before all his homework is
done. He had a severe cold 3 months ago and has not seemed to recover his energy level. He lost about 10 pounds,
but he and his parents are pleased about that; he had been 75th percentile BMI, a bit overweight, and 2 years ago he
decided he needed to eat healthier and exercise. Talking with Jake alone, you discover that his moods are a bit flat, but
he is not depressed. He likes the fact that he has gotten skinnier but still is unhappy with the flabbiness of his stomach
and thighs; he wants a six-pack, which he has not been able to achieve despite doing 500 sit-ups per day. He eats
healthy foods, five times a day; he does not eat fast food or desserts anymore. On examination, his vitals are normal:
heart rate, 60 supine, 70 standing; blood pressure, 102/68; temperature, 96.5F. His height is 159 cm, 10th percentile;
weight is 45.2 kg, 10th percentile; BMI is 17.9, 20th percentile. Two years ago, he was 153.5 cm tall, 40th percentile;
weight, 53.7 kg, 75th percentile; BMI, 22.8. He is SMR 1 for pubic hair on genital examination.
Take Home Points
Commonly, parents are in search of a medical cause; certainly, with crossing height percentiles, one needs to consider
hypothyroidism or inflammatory bowel disease. His lack of puberty development/delayed puberty could be the cause
of his decreasing height percentiles. However, you, the clinician, recognize that the timing of his becoming more fit
corresponds to changes in growth parameters. He is overly focused on his body and has some signs of body image
distortion because he certainly does not have any apparent flabbiness on his abdomen. He has a major fat avoidance,
and although he is eating about 1800 kcal per day, his needs, playing 2 hours of tennis, would be at least 2750 kcal/
day. He is 90% of healthy body weight, so he does not meet full criteria for AN but has eating disorder not otherwise
specified. His moods are flat because of his poor nutritional status. Although it was not wrong for his parents to
encourage him to lose a little weight, he enjoyed the positive feedback and became chronically deficient in overall
calories and fat intake. His relative malnutrition then has caused both decreased height velocity and delayed onset of
puberty. Because he has not had significant weight loss, he has not experienced the typical symptoms associated with
rapid weight loss. Intervention with nutrition therapy, psychotherapy, and medical monitoring should help reverse the
physical impact of this eating disorder. The clinician needs to decrease his physical activity until his eating improves.
Outcomes: His moods improve after 2 to 3 weeks of nutritional rehabilitation; 6 months later, after he reaches a
healthy body weight, signs of puberty begin.
Rare Complication
Superior Mesenteric Artery Syndrome
As patients become malnourished, the fat pad between
the superior mesenteric artery and the duodenum may
shrink, compressing the transverse duodenum and causing vomiting and intolerance of oral intake, especially
solids. Diagnosis is made by an upper gastrointestinal
tract series, which shows to and fro movement of barium in the descending and transverse duodenum proximal to the obstruction. Treatment involves a liquid diet
or nasoduodenal feedings until restoration of the fat pad
has occurred, coincident with weight gain.
Long-term Issues
Amenorrhea
Amenorrhea is a general indicator of a womans overall health status, and return of menses is an important
marker of physical recovery from AN (if menarche has
occurred). Resumption of normal menses depends on increase of both body weight and body fat. Approximately
73% of postmenarcheal girls will resume menstruation
if they reach 90% of their IBW. An adolescent girl needs,
on average, 17% body fat to restart menses and 22%
body fat if she has primary amenorrhea. In general, target weights for return of menses are approximately 1 kg
greater than the weight at which menses was lost. This
may be mediated by the effect of low levels of leptin on
the hypothalamic-pituitary axis. Treatment styles differ, but a minimum weight goal for patients generally
should be 90% of the healthy body weight. If they remain at 90% for 2 to 3 months without restarting menses, the target weight should be increased to 95% IBW.
Signs of estrogen activation include a reappearance of
physiologic leukorrhea. There are no specific laboratory
evaluations needed for the presence of amenorrhea in
a patient with AN; however, if a youth has had sexual
575
576
Brain Changes
As malnutrition becomes more pronounced, brain
tissueboth white and gray matteris lost, and a concomitant increase in cerebrospinal fluid occurs in the
sulci and ventricles (Kerem and Katzman, 2003). Followup studies of weight-recovered anorexic patients show
a persistent loss of gray matter, although white matter
returns to normal. Functionally, there does not seem to
be a specific relationship between cognition and brain
tissue loss, although studies have shown a decrease in
cognitive ability as well as decreased cerebral blood flow
in the more severely malnourished states. Communicating to the patient and the family that brain tissue can be
lost can have a significant effect on the perception of the
seriousness of this disorder.
Psychological Intervention
Teaming up with a therapist is critical to help youths and
families recover from their eating disorder. Ideally, the
therapist specializes in working with youths as well as
with patients with an eating disorder. There are a variety of psychological approaches to youths with eating
disorders (Rome et al, 2003).
Family therapy is especially helpful with younger teenagers, whereas older teenagers tend to benefit more
from individual therapy, although both should be encouraged. Family therapy is an important means by
which to help families understand the development of
the disease and address the issues that may be barriers
to recovery. Both therapies are used in most treatment
programs, and recovery without psychotherapy is unusual. The average length of therapy is roughly 6 to 9
months, although some individuals continue therapy for
extended periods. Adjunctive modalities include art
and horticulture therapy, therapeutic recreation, and
massage therapy.
A newer family therapy approach, manualized family
therapy, developed in Britain by Maudsley and adapted
by Lock and Le Grange (Le Grange et al, 2005), has
shifted the therapeutic approach to youths with AN.
Traditional therapy allowed the adolescents to control
their eating and the parents to back off the food portion
of recovery. This manualized approach gives power and
control back to parents. Treatment is prescribed for
20weekly sessions. The first 10 are devoted to empowering parents, putting them in control of their childs
nutrition and exercise. Parents are educated about the
dangers of malnutrition and supervise each meal. The
next phase, sessions 11 to 16, returns control over
eating to the adolescent once the adolescent accepts the
demands of the parents. The last phase of treatment, sessions 17 to 20, occurs when the patient is maintaining
a healthy weight, shifting the focus away from the eating disorder and examining the impact that the eating
Nutrition Counseling
Appropriate nutrition counseling is vital in guiding a
patient and family through the initial stages of recovery. Careful instruction is important to help the teenager and family dispel misconceptions about nutrition,
identify realistic nutritional goals, and normalize eating.
Initially, nutrition education may be the most important intervention as the teenager slowly works through
his or her fears of fat-containing foods and weight gain.
The teenager begins to trust the nutrition therapist and
begins to restore body weight by eventually eating in
a well-balanced, healthy manner. To help address the
malnourished state, a multivitamin with iron and zinc
supplementation may be beneficial. Zinc has been found
to be depleted in those with AN. Supplementation helps
restore appetite as well as improve depressive moods.
Use of Medication
Use of psychotropic medications has been commonplace in attempting to treat AN, despite lack of solid
evidence. The most promising class of medication has
been the atypical antipsychotics. Several open label trials
(Mondraty et al, 2005; Newman-Toker, 2000) support
the use of atypical antipsychotics (risperidone, olanza
pine), which target specifically the body image distortion
that these patients experience. A recent pilot study, the
first randomized controlled trial of olanzapine in patients with AN, showed a decrease in rumination in
those who received olanzapine. Further studies need to
be done before there is enough scientific evidence to support the use of atypical antipsychotics.
Although vigorously studied, SSRIs repeatedly have
been shown not to be helpful in treating AN initially.
However, once the patient has achieved approximately
85% IBW, then SSRIs (fluoxetine, citalopram, or sertraline) help prevent relapse.
Outcomes
Outcomes in eating disorders, especially AN, have been
studied extensively (Fischer, 2003; Strober et al, 1997).
Most studies, however, have focused on specific inpatient treatment programs, and few have evaluated the
less ill patients who do not need hospitalization. About
40% to 50% of patients receiving treatment recover;
20% to 30% have intermittent relapses; and 20% have
chronic, unremitting illness. As time from initial onset
lengthens, the recovery rate decreases and mortality associated with AN increases.
The course of AN often includes significant weight
fluctuations over time, and it may be years until recovery is certain. Up to 50% of anorexic patients may
develop bulimia as well as major psychological sequelae,
including depression, anxiety, and substance abuse
disorders.
It is unclear whether age at onset affects disease
course. Shorter length of time between symptom onset
and therapy tends to improve outcome. Various treatment modalities can be equally effective. Favorable
outcomes have been found with brief medical hospitalization and long psychiatric or residential hospitalization. Higher discharge weight from the hospital seems
to improve the initial outcome. It is difficult to compare
treatment regimens because the numbers are small and
the type of patient and illness vary between studies.
Patients with eating disorders are at a higher risk for
dying than the general population. Meta-analysis has
shown the risk for dying to be 5.9% in patients with eating disorders; estimates vary between 0% and 18%, depending on the patient population studied and the length
of the study (Herzog et al, 2000). Death in anorexic patients is due to suicide, abnormal electrolyte levels, and
resultant cardiac arrhythmias.
BULIMIA NERVOSA
The typical bulimic is more impulsive, tending to engage
in risk-taking behavior such as alcohol use, drug use,
and sexual experimentation, compared with the individual with AN. Bulimic patients (Fairburn et al, 2000) are
often an appropriate weight for height or slightly overweight, and they get average grades. Some studies have
found that 50% of bulimic patients have been sexually
abused. Patients with diabetes also have an increased
risk for BN. In boys, wrestling and homosexual orientation predispose to BN.
577
Clinical Presentation
Symptoms (Mehler, 2003; Schneider, 2003) seen clinically are related to the mechanism of purging. Gastrointestinal problems are most prominent, with abdominal
pain being a frequent complaint. This can be due to gastroesophageal reflux, as the lower esophageal sphincter
is compromised by repetitive vomiting. Frequent vomiting may result in esophagitis or gastritis, as the mucosa is
irritated from increased exposure to acid. Early satiety,
involuntary vomiting, and complaints of food coming
up on its own are frequent. Less common but more
serious is hematemesis or esophageal rupture. Patients
may report bowel problems (diarrhea or constipation) if
laxatives have been used. Sialadenosis (parotid pain and
enlargement) may occur secondary to frequent vomiting. Erosion of dental enamel may result from increased
exposure to acidity during vomiting. Because comorbid
depression is common in BN, patients may report trouble sleeping and decreased energy. Lightheadedness or
syncope may develop secondary to dehydration.
Most purging methods are ineffective. When patients
binge, they may consume thousands of calories. Digestion begins rapidly. Although the patient may be able to
vomit some of the food, much is actually digested and
absorbed. Laxatives work on the large intestine, leading to fluid and electrolyte loss; calories eaten are still
absorbed from the small intestine. Use of diuretics may
result in decreased fluid weight and electrolyte imbalance but not a loss of calories.
578
available to patients with BN (Rome et al, 2003). Outpatient management is usually the first intervention,
with a multidisciplinary team. Medical hospitalization
is indicated for significant electrolyte disturbance, most
commonly related to hypokalemia; a potassium level
of less than 3.0 mEq/L indicates a need for inpatient
treatment. The binge-purge cycle is addictive and can
be difficult for patients to interrupt on their own. If
outpatient management fails, hospitalization can offer
a forced break from the cycle, allowing patients to normalize their eating, to interrupt the addictive behavior, and to regain ability to recognize satiety signals.
Medical monitoring consists of checking electrolyte
values periodically for patients who are purging and
monitoring weight trends. Observation for weight loss
and the symptoms associated with it is important, as
is monitoring for other psychiatric comorbidities. The
common symptoms that medical practitioners encounter are as follows.
Hypokalemia
Laboratory Findings
Vignette
A 17-year-old female patient was diagnosed with BN
4 months ago. You have admitted her to the hospital
twice for hypokalemia, with potassium levels being
1.9to 2.1 mEq/L. She insists that she vomits only once
per day. You have taken care of other bulimic patients
and have never seen that degree of hypokalemia,
despite reports of self-induced vomiting occurring three
or four times per day. You are puzzled. You decide to
review her history again. She insists that she does not
use laxatives, diet pills, or other dietary supplements.
Her self-induced vomiting occurs after a nightly binge
episode. As you dig deeper, you find that once means
one episode of purging. She typically will vomit, drink
water, vomit again, drink water, and so on until her
emesis is absolutely clear. This adds up to vomiting
8 to 10 times per episode.
Take Home Points
Treatment of BN depends on the frequency of bingeing and purging, the severity of biochemical and psychiatric derangement, and the chronicity of illness.
Similar levels of care described in the AN section are
Aside from being able to treat hypokalemia with supplementation, admission of patients to an inpatient setting
allows close monitoring of self-induced vomiting. Cessation of vomiting alone goes a long way to correcting hypokalemia and alkalosis (Rome et al, 2003). If
potassium concentration is less than 3.0 mEq/L, inpatient medical admission is warranted. General treatment
guidelines for hypokalemia are as follows: if potassium concentration is less than 2.5 mEq/L, intravenous
therapy is recommended; if potassium concentration is
2.5to 2.9 mEq/L, oral supplementation is suggested.
Typically, extracellular potassium is spared at the expense of intracellular potassium, so that a patient may
become hypokalemic several days after the serum potassium concentration appears to be corrected. Supplementation can be stopped once potassium levels are greater
than 3.5 mEq/L. Once serum potassium concentration is
corrected and remains normal 2 days after supplements
are stopped, the clinician can be confident that total
body potassium concentration has returned to normal.
A potassium concentration between 3.0 and 3.5 mEq/L
can be treated on an outpatient basis; a short course
of potassium supplementation is reasonable to pursue.
Many eating disorder specialists will not treat adolescents with chronic potassium supplementation because
it allows teenagers to treat the medical problem while
continuing to purge.
Fluid Accumulation
Many patients who abuse laxatives or vomit frequently may become chronically dehydrated. The reninangiotensin-aldosterone axis as well as the antidiuretic
hormone level may be elevated to compensate. These
systems do not shut down automatically when laxatives
are stopped, and fluid retention of up to 10 kg/week
may result. This puts patients at risk for congestive heart
failure and can scare them as their weight increases dramatically. A diuresis often occurs after approximately
7 to 10 days. Parents and patients should be advised
of this possible complication of initial therapy to help
maintain their confidence in the care plan.
Constipation
Constipation may be seen in chronic laxative abusers,
as the natural regulation of their gastrointestinal system
has been lost. Practitioners need to determine whether
a patient truly has constipation or is attempting to convince the practitioner in order to continue to purge. The
physical examination findings and radiographs can be
helpful in determining need for treatment. Practitioners
need to be judicious when treating laxative abusers and
should inform parents as to what they are prescribing.
579
Psychotherapy
Cognitive-behavioral therapy is the most common psychotherapeutic approach used to help bulimic patients
understand their disease and to offer suggestions for decreasing bingeing and purging. Dialectic behavior therapy, which teaches specific skills to patients confronted
by certain stressors, also may be used. Family therapy is
important as well to help empower the family in limit
setting and to help address any family dynamic that may
have contributed to the development of the eating
disorder.
Nutrition Therapy
Nutrition therapy guides patients in ways to regulate eating patterns so that they can avoid the impulse to binge.
Frequently, those with BN feel guilty about the previous
days binge, so they restrict eating the following day, until the impulse to binge eat appears again. Regular eating with three meals and two snacks per day, including
breakfast, is important to help break the binge-purge
pattern. Encouraging some satiety (fat) in the meal plan
will also help regulate appetite.
Medications
SSRIs (Mehler, 2003; Schneider, 2003) are generally
quite helpful in treating the binge-purge cycle. Fluoxetine
has been studied most extensively; a dose of 60mg/day
is most effective in teenagers. Other SSRIs are thought
to work similarly and are worth trying if the patient experiences side effects while taking fluoxetine. The course
of medication should continue until the patient is symptom free for at least 3 or 4 months.
Outcomes
With appropriate intervention, patients with BN tend
to recover more rapidly than do those with AN (Herzog
et al, 1999). However, relapse is common, and patients
should be monitored for extended periods. The mortality rate in bulimic patients is similar to that in anorexic
patients. Death usually results from suicide or electrolyte derangements. Bulimic patients also develop similar
psychological illness but rarely develop anorexia.
BINGE-EATING DISORDER
The diagnostic category of binge-eating disorder was
created in DSM-IV (Table 59-8). Officially, it is still
considered a research diagnosis. Studies show that most
adults who have binge-eating disorder (a prevalence of
2% to 4%) develop symptoms during adolescence.
Clinical Presentation
Binge-eating disorder most often is recognized in patients
who are overweight or obese. Eighteen percent of such
patients report bingeing at least once in the past year.
580
Patients with binge-eating disorder have an increased incidence of depression and substance abuse. By use of the
DSM-IV diagnostic criteria as a guide for evaluation,
the suspicion of binge-eating disorder should be raised
for any significantly overweight patient. Asking patients
about binge eating, which can be secretive, determines
the diagnosis.
Treatment
A combination of cognitive-behavioral therapy and antidepressant medication has been helpful in treatment of
binge-eating disorder in adults (McElroy et al, 2003).
Use of SSRIs for binge-eating disorder in adolescents has
not been studied; but in adults, fluoxetine and citalopram
help decrease binge episodes and improve depression and
the decreased appetite that contributes to weight loss.
This evidence suggests that SSRIs in adolescents with
binge-eating disorder may be helpful as well. Bingeeating disorder has been recognized only recently, and
outcomes have not been studied. Intervention with an
SSRI appears to help the binge eating, but little is known
about long-term prognosis.
SUMMARY
Clinicians need to be aware of the spectrum of eating
disorders as they commonly occur in adolescents as well
as in younger children. It is essential to screen all teenagers about body image and dieting behavior. Obtaining
history from parents is essential, as adolescents may be
reticent to discuss their illness. Being aware of the shortterm and long-term consequences of the eating disorders
is important to help treat youths and their families. Clinicians should be aware of resources in their community;
many larger cities have eating disorder treatment programs. Teaming up with specialists in the eating disorder fieldtherapists, psychiatrists, and dietitianswill
help the clinician provide the best services possible. Becoming familiar with outpatient management will help
the primary care provider feel confident being the primary medical person overseeing treatment of adolescent
patients with eating disorders, serving as a valuable
resource to families and patients alike.
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Golden NH: Osteopenia and osteoporosis in anorexia nervosa.
Adolesc Med 14:97-108, 2003.
Golden NH, Iglesias EA, Jacobson MS, et al: Alendronate for the
treatment of osteopenia in anorexia nervosa: A randomized,
double-blind, placebo-controlled trial. J Clin Endocrinol Metab
90:3179-3185, 2005.
Herzog DB, Dorer DJ, Keel PK, et al: Recovery and relapse in anorexia
and bulimia nervosa: A 7.5 year follow-up study. J Am Acad Child
Adolesc Psychiatry 38:829-837, 1999.
Herzog DB, Greenwood DN, Dorer DJ, et al: Mortality in eating disorders: A descriptive study. Int J Eat Disord 28:20-26, 2000.
Karlsson MK, Weigall SJ, Duan Y, Seeman E: Bone size and volumetric density in women with anorexia nervosa receiving estrogen
replacement therapy and in women recovered from anorexia nervosa. J Clin Endocrinol Metab 85:3177-3182, 2000.
Kaye WH, Nagata T, Weltzin TE, et al: Double blind placebocontrolled administration of fluoxetine in restricting- and restrictingpurging-type anorexia nervosa. Biol Psychiatry 49:644-652,
2001.
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60
FAILURE-TO-THRIVE
Patrick H. Casey
Failure-to-thrive (FTT) is a traditional term used in clinical settings to describe infants and toddlers who do not
grow at the expected rate for children of similar age and
gender (Fig. 60-1). This clinical problem, which usually comes to the attention of primary care pediatricians
and family physicians, is a diagnostic and therapeutic
challenge because of the broad array of medical and environmental causes. The current incidence of this condition is difficult to ascertain. Although population-based
data are not available, a community-based study found
prevalence of 3% to 4% in the first year of life (Skuse
et al, 1994). FTT occurs frequently, with an estimated
10% prevalence in outpatient settings (Altemeir et al,
1985). Certain clinical populations, such as low-birthweight preterm infants and children with developmental disabilities like cerebral palsy (Sullivan et al, 2005),
have a higher incidence, as much as 21% in preterm infants (Kelleher et al, 1993). Whereas older publications
suggest that FTT accounted for 3% to 5% of admissions to academic hospitals, 34.9% of hospitalized children younger than 2 years demonstrated some degree of
malnutrition (Hendricks et al, 1995). Although not well
documented, the prevalence of FTT may be increasing
because of the increasing number of preterm (12.5% of
all births in 2004) and low-birth-weight (8.1% in 2004)
infants with increased survival and perhaps higher rates
of neurodevelopmental disability (Horbar et al, 2002;
Wilson-Costello et al, 2005).
DEFINITION
The term failure-to-thrive is generally used to describe
an infant or toddler whose weight is abnormally two
standard deviations less than the mean (i.e., less than
the 5th percentile) for gestation-corrected age and sex or
whose weight crosses two major percentiles downward
on a standardized growth grid. In addition, the ratio of
weight to length is low, less than the 10th percentile.
Height, head circumference, and developmental skills
can also be affected, depending on severity, duration,
age at onset, and cause of the clinical condition.
All children who fit these criteria, whether because
of organic or nonorganic causes, are considered to have
FTT. The term abnormal in the definition has two implications. Children who are genetically short because they
have small parents are often normal, although they are
ETIOLOGY
Inadequate nutrition is recognized as the central cause
of FTT (Wright et al, 1994). Children with FTT may
suffer the biologic insult of calorie deprivation, whether
inadequate calories are delivered or more than normal
calories are required. Whether or not a biologic disease
is present, most children with FTT demonstrate catch-up
growth when adequate calories are provided (Bithoney
et al, 1989; Wright et al, 1998).
CLINICAL CATEGORIES
Pediatricians historically dichotomized the etiology of
FTT into organic and nonorganic causes. Organic FTT
includes any biomedical condition that is severe enough
to result independently in the growth problem. Disease in any organ system can cause FTT. Pediatricians
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Interactional Model
Whereas the term maternal deprivation was used almost
interchangeably with FTT decades ago, research and
experience have subsequently demonstrated that overt
neglect of the infant is infrequently associated with FTT,
and the use of that term is not appropriate. Clinicians
Chapter 60 Failure-to-Thrive
HOME AND SOCIETAL ENVIRONMENT
PARENT
Economic status
Knowledge
Health
Psychoemotional
state
Past life experience
CHILD
Appearance
Temperament
Neurodevelopmental
maturity
Ease of caregiving
Parent-child
interaction
FTT
Endocrine-cellular
dysfunction
585
Nutritional
deficiency
and theoreticians are increasingly using an interactionaltransactional model of the causation of FTT, except in
those infants with overt organic or nonorganic causes
(Casey, 1989; Frank and Zeisel, 1988). The model in
Figure 60-3 conceptualizes interaction at several levels.
The central cause of FTT is viewed as a breakdown in the
parent-infant interaction. The parent does not read or
respond to the infant appropriately, and the infant has
difficulty in eliciting attention and appropriate care from
the parent. This bidirectional problem ultimately results
in nutritional and nurturing deficiencies that then result
in FTT. Certain extreme physical, emotional, or social
problems in the parent cause unidirectional effects that
would result in FTT in any child. This parent-to-child
effect has dominated the literature on nonorganic FTT.
More commonly, minor or subtle abnormalities in physical, temperamental, or emotional aspects of the parent,
or all of these factors, combine with real or perceived
similar abnormalities in the infant to result in interactional FTT. For example, infants who are difficult to care
for, such as in feeding or soothing, place stress on the
parent-infant interaction. Infants who are unpredictable
and have difficulty signaling their needs can also impede
a mutually rewarding relationship. Such problems occur more commonly in premature infants, infants born
small for gestational age, drug-exposed infants, children
with difficult or placid and easy temperaments, and
children with neurologic dysfunction. Undernutrition in
infants may have an independent detrimental effect on
parent-infant interaction as early as the first 6 months
of life. Finally, the interaction between the parent-child
pair is viewed in the context of their microenvironment
and macroenvironment. Physical aspects of the home
provide the milieu in which the parent-infant interaction occurs. The number of people present in the home,
the physical adequacy of the house (such as heating,
cooling, and crowdedness), the homes organization,
and the availability of support all affect parent-infant
interaction and the parents ability to meet the infants
needs. Strengths (supports) and weaknesses (stressors)
DIAGNOSTIC EVALUATION
The diagnostic approach to a child who presents with
FTT requires a thoughtful medical, developmentalbehavioral, nutritional, and social evaluation to recognize
etiology, to develop a treatment plan, and to understand
586
Medical Evaluation
Growth Status
The presence of FTT is documented by applying the
definition described earlier, including current weight
status for gestation-adjusted age, weight compared with
length, and growth velocity over time. Accurate measurements of height, weight, and head circumference
with use of standard collection techniques are critical.
Growth charts developed by the National Center for
Health Statistics are recommended for reference; they
include the most recent reference growth data from a
representative national sample of children. Growth grids
for use with low-birth-weight preterm children based on
a longitudinal sample are available to provide reference
data for such children younger than 3 years (Sherry et al,
2003). The infants height, weight, and head circumference are plotted to determine the percentile for age (corrected for gestational age if necessary) and the percentile
for weight for height. Weight for age less than the 5th
percentile suggests undernutrition. Weight-to-height ratio less than the 5th percentile, even in a short child,
suggests acute recent malnutrition. Is the child gaining
weight at an average rate, paralleling the growth curve,
whether above or below typical weight and length
for age, or is there a gradual decrease in the velocity
of weight gain over time? Crossing percentile lines on
the growth grid suggests a growth velocity problem.
Velocity growth curves are available for use in assessing weight and length gain over time at various ages for
infants younger than 2 years.
The weight percentile usually decreases before a
change in the length or head circumference percentile in
a child with FTT. The length and ultimately head circumference percentiles also drop if the problem is severe and
chronic enough. Some term infants with weight, length,
or head circumference less than normal at birth (small
for gestational age) demonstrate a stable rate of growth,
with normal weight for length, but remain at less than
the 5th percentile for age. Often these children have had
a problem in utero that precludes typical growth; these
children do not have FTT. On occasion, a child demonstrates a normal weight-to-height ratio but a progressive
deterioration of length percentile. This situation suggests
an endocrinopathy or constitutional short stature. Some
children whose weight and height percentiles at birth
are greater than their ultimate growth potential cross
Perinatal
Labor and delivery complications, Apgar score
Birth weight, gestational age (small for gestational age?)
Neonatal
Length of stay
Specific problem, e.g., intraventricular hemorrhage, seizures,
hypoxia, extreme hyperbilirubinemia, infections
Postnatal Health
Growth trajectory and nutrition
Serious (e.g., meningitis) or recurrent infection (e.g., otitis media)
Recurrent symptoms, e.g., vomiting, diarrhea, wheezing, snoring
Chronic conditions, e.g., cerebral palsy, gastroesophageal reflux,
chronic lung disease, upper airway obstruction
History
The medical history and physical examination should
identify any condition or cluster of symptoms that negatively affects the infants growth potential (such as in
utero growth retardation), increases the childs basic
calorie requirement (such as chronic infection), decreases
the availability or use of calories (such as malabsorption),
negatively affects the childs ability or willingness to feed
(such as gastroesophageal reflux), or negatively influences
the parents ability to meet nutritional needs. An outline
for some important aspects of the history is presented in
Table 60-1. The medical history begins with the description of the development of the growth problem. How
do the parents perceive the problem and its cause, and if
both parents are present, how do they relate in describing
this problem? How old was the infant at the beginning
of the problem, and what medical conditions and symptoms were present? Were problematic feeding or behavioral styles present? A complete review of systems elicits
information about recurring symptoms that might have
been omitted from the general history. Organic problems that most likely result in FTT are gastrointestinal
diseases that result in recurring diarrhea and vomiting,
neurologic disease (particularly early cerebral palsy), and
Chapter 60 Failure-to-Thrive
chronic upper airway disease (otitis media) and obstruction (Bithoney and Newburger, 1987). A thorough past
medical history is established. Some past conditions, like
gastroesophageal reflux, may result in ongoing food aversion, even if the condition is not active. Children with no
medical cause of their FTT tend to have been smaller at
birth and to have had more illness than children who
grow normally (Altemeir et al, 1985). Birth weight, gestational age, and complications in the prenatal, perinatal,
and postnatal periods are noted. In utero toxin exposure
(e.g., alcohol, cigarettes, cocaine) and infection (e.g., acquired immunodeficiency syndrome, cytomegalovirus infection) are causes of FTT. Such conditions also increase
the burden of caring for the infant, which stresses the
parents ability to provide. For example, some premature
infants or infants who have been exposed to toxins can
be hyperirritable and demonstrate deficient responses to
visual, auditory, or tactile stimuli. Their unpredictable
behavior, difficulty in signaling needs, and problems in
coordinating suck and swallowing interfere with parentchild interaction and the feeding event.
The childs developmental milestones and progress
are substantiated. Children with FTT commonly demonstrate developmental delays and subtle deviations
from normal behavior (Raynor and Rudolf, 1996). A
description of the childs behavioral style and eating
ability and the presence of problems like colic is solicited. Normal children might have behavioral traits that
stress parents beyond their ability to cope (Bithoney and
Newberger, 1987). They might feed with difficulty, be
poorly able to modulate their moods and whine or show
other evidence of irritability, and be excessively clinging. In contrast, some children described as good babies might actually be withdrawn, depressed, or unable
to place normal demands on their environment.
Finally, a family history is obtained to detect inherited
problems such as cystic fibrosis, sickle cell disease, diabetes mellitus, or other endocrine, metabolic, neurologic, or
gastrointestinal diseases that can affect ultimate growth.
The physical size of the parents, siblings, uncles, aunts,
and grandparents assists in predicting growth prognosis.
Physical Examination
Careful evaluation for minor dysmorphic features can
suggest syndromes associated with short stature, such
as fetal alcohol syndrome or Russell-Silver syndrome.
Head size, configuration of the eyes and ears and mouth,
proportion of trunk to extremities, and abnormalities of
digits and extremities require particular attention. Specific organ diseases are sought, particularly those that
can be asymptomatic, such as chronic serous otitis media, congenital heart disease, or abdominal masses. A
neurologic examination evaluates the child for cranial
nerve or motor tract dysfunction, particularly abnormalities of muscle tone and peripheral reflexes. Cranial
nerve dysfunction associated with difficulty in swallowing can result in FTT. Hypertonicity and hyperreflexia,
sometimes prematurely diagnosed as cerebral palsy,
can actually result from progressive undernutrition
in infancy. Finally, the child is evaluated for evidence
of physical abuse, such as unexplained burns or skin
lesions, fractures, or retinal hemorrhages.
587
Laboratory Analysis
The results of the history and physical examination
guide the laboratory evaluation. A thorough history
and physical evaluation detect most organic causes
of FTT, and laboratory tests almost never contribute
to the diagnosis independently (Homer and Ludwig,
1981; Sills, 1978). When no significant symptoms or
physical findings are present, a stepwise laboratory
approach is recommended. Some conditions, like lead
poisoning, tuberculosis, and giardiasis, can be endemic
in certain geographic areas and require routine laboratory assessments. Laboratory evaluation can also be
useful to document nutritional status. The albumin
level is used to assess protein status in severe FTT.
Deficiency in minerals, particularly iron and zinc, can
have an independent detrimental effect on the development of FTT. Interpretation of growth patterns on
growth grids can assist in decisions about laboratory
evaluation. A child with a decreasing height growth
velocity with a symmetric weight-to-height ratio
might require bone age and thyroid studies and perhaps growth hormone evaluation. Conversely, these
endocrine studies are not warranted in a typical FTT
growth pattern.
An appropriate initial assessment in a child with
FTT with no obvious problems identified in the medical history and physical examination, seeking to identify
conditions that may be nonsymptomatic, includes the
following: complete blood cell count; urinalysis; brief
chemical panel including electrolytes, calcium, glucose,
and renal function; and serum zinc level in toddlers. If
concerns persist after a period of management, further
laboratory evaluation to be considered might include
sweat test, serologic screening for celiac disease, radiologic evaluation for gastroesophageal reflux, studies for
gastrointestinal malabsorption, and even brain scan in
the rare case of diencephalic syndrome.
588
Social History
There are few specific socioenvironmental causes of FTT
(e.g., extreme poverty, parent with intellectual disability
or psychosis), and there is no single set of factors that
routinely results in FTT. Most controlled research has
found no difference between families with children with
FTT and controls in maternal age, marital status, knowledge, stress, mental health, number of family members,
birth order of index child, or number of rooms in the
household (Wright and Birks, 2000). However, mothers
who have children with FTT report more negative perceptions of their own childhood and their relationship
with the childs father (i.e., arguments and separations)
MANAGEMENT
Need to Hospitalize
The first decision after the initial outpatient evaluation is
whether to hospitalize the child to initiate management.
Successful outpatient management of most children
with FTT has been demonstrated in settings with multidisciplinary groups (Bithoney et al, 1989; Casey et al,
1984; Wright et al, 1998). Physicians can attempt to
manage in outpatient settings children who are mildly
to moderately underweight (more than 60% average
weight for age) and mildly wasted (more than 80%
average weight for height), who constitute the majority
Chapter 60 Failure-to-Thrive
Nutritional Rehabilitation
Nutritional rehabilitation is at the core of the management of FTT (Table 60-2), whether it is inpatient or outpatient management (Frank and Zeisel, 1988). To allow
weight growth to compensate toward normal, one attempts to provide more than expected calorie intake for
average gain for age. Depending on the age of the child,
the following are the general goals of nutrition management: stabilize a feeding schedule to encourage the development of the rhythm of appetite/satiation; diminish
or eliminate between-meal junk foods and sweet liquids;
increase beneficial calorie intake with a goal of 130 to
150 calories per kilogram per day; encourage parents
to use positive reinforcement of positive eating behaviors and to avoid aggressive feeding styles. Enriched formulas (24 to 30 calories per ounce) with carbohydrate,
Table 60-2. Management of Failure-to-Thrive
Nutritional rehabilitationestablishing appropriate intake,
restoration, and maintenance
Improved parent-child interaction
Developmental stimulation of infant in some cases
Management of organic disease
Amelioration of social-family problems
Mental health support for parents when indicated
Regular follow-up
589
Age (months)
Grams/day
0-3
25-30
3-6
15-20
6-12
10-15
>12
5-10
590
FOLLOW-UP
All of these steps, along with ongoing monitoring in the
clinical setting, serve to provide the family an anchor
to the world to minimize social isolation. The relationship of the physician and other health care workers to
the family during this monitoring process is a supportive
PROGNOSIS
The outcome of children with FTT is predictably quite
variable, given the broad range of severity, age at onset, and etiology. Even in the absence of diagnosable
disease, children with FTT vary considerably in degree
of malnutrition, subtle neurodevelopmental abnormality, and quality of nurturance and stimulation of their
home environments, all of which independently contribute to ultimate outcomes in growth, development, and
behavior.
Most controlled follow-up studies of children with
FTT in this country and undernourished children in
developing countries generally document negative longterm effects on growth and cognitive development.
Most studies of children with FTT into school years
have found them to be shorter and lighter than controls
with a higher prevalence of stunting and wasting (Boddy
et al, 2000; Drewett et al, 1999). Also, many of these
long-term reports found that children with FTT functioned in the lower range of normal in cognitive measures, although lower than the control groups (Boddy
et al, 2000; Rudolf and Logan, 2005). Negative effects
of early FTT have recently been demonstrated on growth
status, cognitive status, and academic achievement at
8 years of age in a longitudinal cohort of low-birthweight preterm children (Casey et al, 2006). Longterm outcomes, of course, may be affected positively
by treatment. Several randomized controlled interventions have been performed with benefits on growth and
development with malnourished children in developing
countries, using nutrition and psychosocial stimulation
(Black and Dubowitz, 1991).
Concern has risen in recent years that children who
have poor weight gain in the early years of life, particularly if they have later rapid and excessive weight gain,
are at greater risk for an array of diseases in adult years,
including cardiovascular disease, obesity, hypertension,
and diabetes (Barker, 2003). Further longitudinal research will be required to confirm these associations;
this concern warrants caution by pediatricians in their
nutrition management approach.
SUMMARY
Most children with FTT can be expected to achieve
normal growth and developmental status. In contrast,
many children remain small and continue to be at risk
for long-term negative developmental and behavioral sequelae. Because of the variation in clinical subtypes and
etiologic contributors on the transactional spectrum, no
generalization of prognosis is adequate for an individual
child. Nutritional, family support, and childhood stimulation intervention will likely improve outcomes of children with FTT.
Chapter 60 Failure-to-Thrive
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61
Vignette
T. R. presented to the pediatric weight clinic at 16 years of age with a weight of 169 kg and a body
mass index (BMI) of 60 kg/m2. Her mother had an unremarkable pregnancy, labor, and delivery, with
the exception of gestational diabetes. T. R. had a birth weight of 3.7 kg and was euglycemic during
her first few days of life in the hospital. By 3 years of age, her pediatrician noted that her weight
and height were both accelerating above the 95th percentile, and at 6 years of age, her BMI was
30 kg/m2, well above the 95th percentile for age. At 12 years of age, she began attending a local
Weight Watchers program with her mother. Despite her efforts at dietary control and exercise, her
BMI continued to increase at a rate of about 3 kg/m2 per year. Her family history was remarkable for
diabetes, hypertension, and hyperlipidemia in both of her parents and all of her grandparents. Her
mother had a Roux-en-Y gastric bypass when T. R. was 14 years of age. Her review of systems was
positive for snoring, daytime somnolence, limited exercise tolerance, and oligomenorrhea.
She was an excellent student but shied away from after-school activities and was uncertain about
attending college after high-school graduation. On physical examination, she had hypertension,
acanthosis nigricans, and extensive striae. Laboratory studies revealed insulin resistance, normal
2-hour glucose tolerance test result, elevated total and low-density lipoprotein cholesterol levels, and
elevated alanine and aspartate aminotransferases. Her electrocardiographic and echocardiographic
recordings were normal; however, polysomnography revealed a markedly elevated apnea-hypopnea
index with multiple apnea events associated with oxygen desaturation. She and her mother
requested that she be evaluated for bariatric surgery. After a 6-month period of weight maintenance,
supported by dietary modification and limited exercise, she underwent a Roux-en-Y gastric bypass.
Postoperatively, she was prescribed a restricted diet, supplemented with protein, minerals, and
vitamins. Subsequently, she was able to reintroduce a wide variety of foods. Six months after
surgery, her weight was 110 kg, her BMI was 43, and all laboratory studies had normalized, including
polysomnography. As a valedictorian at her high-school graduation, 18 months after surgery, her
weight was down to 87 kg and her BMI was 35.4. With improvement in her self-esteem, she looked
forward to entering an out-of-state college soon thereafter.
PREVALENCE
The United States is experiencing a dramatic increase
in pediatric obesity. Since 1971, the prevalence of overweight has increased from below 5% to almost 20%
for non-Hispanic white children aged 6 to 11 years and
from just above 5% to 17% among 12- to 17-year-olds
(Ogden et al, 2002). Similar increases occurred for nonHispanic black and Mexican American youth. Although
the risk of overweight varies with gender, socioeconomic
status (SES), and ethnicity, these associations have weakened over time and, in some cases, reversed. Non-Hispanic
white boys 2 to 9 years of age of lower SES are at greater
592
DIAGNOSIS OF OBESITY
Body mass index (BMI) is the currently recommended
metric for the assessment of overweight in the pediatric
age group. Although methods exist for the estimation of
body fatness, including skin fold thickness, underwater
weighing, air plethysmography, and bioelectric impedance, these are not widely employed in clinical care.
In this chapter, the term obesity is used in reference to
593
a condition of excessive body fatness; the term overweight is used in reference to individuals or groups of
individuals whose BMI is in excess of the 85th percentile
for their age and gender.
BMI, calculated by the formula [BMI = weight (kilograms) divided by the square of height (meters)], should
be plotted on a standardized gender-specific percentile
curve by age, such as those currently available from the
Centers for Disease Control and Prevention (Figs. 61-1
and 61-2). BMI at or above the 95th percentile for age
and gender is defined as obese, whereas BMI at or above
the 85th percentile and below the 95th percentile is
defined as overweight.
DEVELOPMENT OF ADIPOSITY
Dietz (1994) has suggested that there may be three
critical periods in the development of obesity, corresponding to periods of adipose tissue proliferation:
gestation and early infancy, ages 5 to 7 years, and adolescence. The role of the prenatal period in the later development of obesity is still unclear, although metabolic
influences on the developing fetus, such as those that
occur in the presence of gestational diabetes, may have
long-term consequences (Whitaker et al, 1998). During
the first year of life, children tend to accumulate baby
fat, followed by a relative reduction in body fatness
during the next several years, followed again by an increase in their BMI beginning at 5 to 6 years of age
and continuing through puberty. Longitudinal studies
of risk factors for adult obesity have generally shown
that with increasing age, the overweight child or adolescent has an increasing likelihood of obesity in adult life,
thereby providing justification for counseling of any
child whose BMI exceeds the 85th percentile about risk
of later overweight.
ETIOLOGIC FACTORS
The multifactorial nature of child obesity suggests an
important interaction of genetic predisposition, family environment, and individual behavior. Whether the
etiology of obesity is more genetic or behavioral, the
clinical approach to the evaluation and treatment of
this problem requires that all factors be acknowledged.
Dietz and Robinson (1993) suggested that as in other
diseases reflecting an interaction of host and environment, the most appropriate perspective is that genetics
influences susceptibility to obesity but that the genetic
predisposition to obesity can be modified by attention to
environmental factors affecting calorie intake or energy
expenditure.
Factors influencing the development of body fatness
during childhood and adolescence include calorie intake
and energy expenditure. Although differences in calorie
intake or energy expenditure might account for differences in body fatness between individuals, it has been
difficult to consistently demonstrate such differences,
even in well-performed naturalistic studies. Small differences in daily food intake or physical activity, when
extended for long periods, may account for the excessive weight gain of some children.
594
BMI
34
34
32
32
95th
30
90th
28
30
28
85th
26
26
75th
24
24
50th
22
22
25th
20
10th
5th
20
18
18
16
16
14
14
12
12
kg/m2
2
kg/m2
3
10
11 12 13 14
Age (years)
15 16
17 18
19 20
Figure 61-1. Percentiles of BMI for boys 2 to 20 years of age. (From http://www.cdc.gov/growthcharts.)
595
BMI
34
32
34
95th
32
30
30
90th
28
85th
26
75th
24
22
50th
20
25th
10th
18
5th
28
26
24
22
20
18
16
16
14
14
12
12
kg/m2
2
kg/m2
3
10
11 12 13 14
Age (years)
15 16
17 18
19 20
Figure 61-2. Percentiles of BMI for girls 2 to 20 years of age. (From http://www.cdc.gov/growthcharts.)
596
motivation to make significant change in eating behaviors, dietary composition, and physical activity. There
is a growing interest in the application of motivational
interviewing techniques to pediatric obesity treatment
(Resnicow et al, 2006). Motivational interviewing uses a
nonjudgmental and supportive mode of communication
between physician and patient, designed to enhance motivation for behavior change, rather than the more traditional emphasis on the transfer of information about
healthy diet or exercise. The physician must engage in
active reflective listening to respond effectively to the
patients or parents questions and statements. Once
the patient or parent acknowledges both concern about
the problem of overweight and a belief that behavior
change will be effective in overcoming the problem, it
then becomes much more likely that goals for behavior change can be articulated, agreed on, and ultimately
achieved.
The pediatrician may wish to engage the consultation
of other clinicians in the treatment of his or her overweight patients. In particular, the use of pediatric specialists for assistance with the management of comorbidities,
such as diabetes, hypertension, sleep apnea, pseudotumor cerebri, and polycystic ovary syndrome, should be
considered. In caring for patients with very severe overweight, consultation with a pediatric obesity specialist
should also be considered, especially if the need for pharmacotherapy or bariatric surgery is under discussion.
DIAGNOSTIC EVALUATION
History
Less than 2% of overweight children have an underlying endocrinopathy, such as hypothyroidism or Cushing disease, or one of the recognized obesity syndromes,
such as the Prader-Willi or Bardet-Biedl syndrome
(Table 61-1). In general, nondysmorphic overweight
children with normal or above-average height, normal
intelligence, and normal gonadal development do not
require further laboratory investigation for underlying
genetic or endocrine disorders.
The childs past medical history should be reviewed
with attention to early hypotonia, feeding difficulties, or
Table 61-1. Examples of Obesity Syndromes
Prader-Willi Syndrome
Early hypotonia
Early feeding difficulty
Early failure-to-thrive
Developmental delay
Later profound hyperphagia
Bardet-Biedl Syndrome
Intellectual disability
Hypogonadism
Polydactyly
Retinitis pigmentosa
Optic atrophy
Cataracts
Microphthalmia
Colobomas
Physical Examination
A careful general physical examination should be geared
to the identification of underlying endocrine or other
syndromes and to the identification of problems that
may contribute to or be a consequence of the childs
obesity (Table 61-2). Patients with normal stature, normal cognitive development, and normal gonadal development are unlikely to have a primary endocrine or
genetic diagnosis underlying their obesity.
Given the increasing prevalence of many of the comorbidities of obesity in the pediatric age range, laboratory and diagnostic studies are indicated for all children
whose BMI exceeds the 95th percentile for age as well
as for children with BMI above the 85th percentile and
clinical signs of any comorbidities (Table 61-3).
Psychological Assessment
A psychological assessment of the child and family can
be very helpful and may provide important information
about the familys concerns and ability to participate in
further evaluation and in treatment. It is useful to observe the interaction of family members and to observe
their expressions of concern for and criticism or support
of the child in dealing with this problem. If the opportunity presents itself, it is also useful to note parents responses to the childs requests for food during the visit.
If there is any suspicion of child or family psychopathology, an experienced psychologist or family therapist
should be consulted during this process.
TREATMENT APPROACHES
Recent publications provide a series of recommendations for the management of overweight children and
adolescents. The Expert Panel on Child Obesity of the
Maternal and Child Health Bureau met in March 1997
and agreed on the use of BMI to assess overweight status
597
Goals
Treatment should aim for modest, gradual change over
time, with an emphasis on implementing small, permanent
changes in diet and activity. Families should learn to use
self-monitoring as a key component of the behavior change
process and should set reasonable targets for weight maintenance or weight loss, depending on the age of the child
and the severity of his or her overweight. Recommendations based on age and BMI are included in the new Expert Committee Report. Children 6 years of age and older
should be encouraged toward weight loss if their BMI is at
or above the 95th percentile, as should those 12 years of
age and older with a BMI between the 85th and 94th percentiles in the presence of a comorbidity. Children between
2 and 5 years of age should be encouraged to lose weight
only in the presence of a BMI at or above 21 kg/m2.
It is not always easy to set a specific target weight
for the child. One approach is to use the childs BMI
curve to identify the current thresholds for 85th percentile and 95th percentile BMI for age. The current height
is then used to calculate the weight loss that would put
the child at each of these thresholds. Such a goal may be
achievable with periods of weight loss alternating with
periods of weight maintenance.
Behavioral treatment should support change in diet
and exercise without placing the child at risk for calorie
insufficiency. Depending on the age of the child and the
severity of obesity, change in behavior may be used to
maintain a young childs weight, allowing linear growth
to proceed (producing a change toward lower degree of
overweight or fatness), or to foster moderate weight loss
in the older child ( to 1 pound per week) or adolescent (1 to 2 pounds per week). By closely monitoring
Fasting blood glucose concentration; if elevated, add 2-hour glucose tolerance test*
Insulin level*
Fasting lipids (total cholesterol, low-density lipoprotein, high-density lipoprotein, triglycerides)*
Liver function tests (aspartate and alanine aminotransferases)*
Abnormal levels of testosterone, free testosterone, dehydroepiandrosterone sulfate, and sex hormone
binding globulin, with normal levels of prolactin, insulin-like growth factor 1, thyroid hormones,
and 17-hydroxyprogesterone
Polysomnography, electrocardiography
Knee radiographs
Hip radiographs
Chest radiography, echocardiography
Computed tomography of the head
studies recommended for all patients with BMI greater than 95th percentile; all others if suspected by history or physical examination findings.
598
Family Involvement
Child and adolescent obesity is situated within a family
context. There are typically other family members who
have struggled with weight and whose experience can be
extremely valuable in helping develop a realistic set of
goals for the child and family. The tendency for families
to feel defeated by obesity comes from their unrealistic
expectation of dramatic and continued change.
The familys involvement is critical to the evaluation
and management of child obesity. Parents are often confused by what they have read and thought about the
origins of their childs obesity. Because obesity has both
strong genetic and behavioral contributions, parents often feel guilty about their childs obesity and may have
already experienced failure in trying to intervene. Because obesity is so resistant to intervention, the family
may feel hopeless and at a loss. Efforts to explain the
Behavioral Intervention
For families who appear to be reasonably functional
and motivated, the initial strategies are focused on gradual alterations in the childs eating and physical activity
(Table 61-4). These behavioral strategies include goal
setting, self-monitoring, record review, contracting,
praise, environmental control, cognitive restructuring,
anticipation, periodic reassessment, and maintenance.
Intervention does not require calorie counting
or specific calorie intake reduction. An alternative approach is to categorize foods as more or less desirable
and to use behavioral techniques that lead to the reduction of less desirable foods and encouragement of more
desirable foods. One such system of categorization, the
stoplight diet, categorizes foods as red light, yellow light, and green light (Epstein et al, 1994). By
identifying foods in this way, parents can support the
childs efforts to reduce intake of red-light foods and
increase intake of foods from the other two categories.
Gradual reduction in intake of red-light foods can be
rewarded and sustained in association with goals of
weight loss or maintenance.
A discussion of dietary approaches to weight management in children would not be complete without some
Cognitive restructuring
Anticipation
Reassessment
Maintenance
Set weekly challenging but achievable goals for change in diet, physical activity, and sedentary behavior.
Self-monitoring increases behavioral awareness of behavior change and facilitates reinforcement. Without
self-monitoring or monitoring by parents, it is impossible to assess progress in behavior change over time.
Daily review with a parent helps provide feedback and reinforcement for behavior change.
After setting of realistic and explicit goals each week, the parent and child contract for agreed on behavior
change. Rewards should be simple, easy to administer, and inexpensive. Rewards should be deliverable
immediately (i.e., weekly or daily).
Parents can learn to use praise as a powerful tool to reinforce and to maintain desired behavior change. Praise
should be specific to the behavior. Criticism and punishment are less effective and may be detrimental.
Parents can help by identifying factors within the environment that promote overeating or inactivity. Examples
of environmental control include removal of high-fat, high-calorie foods from the household, increasing the
availability of cut-up vegetables rather than chips or sweets for snack time, avoidance of television viewing
during mealtimes, reducing the amount of time indoors during daylight hours, and increasing the expectation
for daily physical activity.
Parents and children learn alternative ways to think about their beliefs and behaviors to reduce the tendency to
feel bad about their struggle with weight.
It is important to anticipate obesity-promoting situations and to plan specific strategies for parties, travel, and
holidays.
Periodic reassessment enables the child and family to identify lapses in desired behavior change and to reinstitute
previously successful strategies, before feelings of frustration and failure develop.
Ongoing reassessment of goals, strategies, and progress
mention of low-carbohydrate or lowglycemic index diets. Although the low-carb diet achieved enormous
popularity in the United States during the 1990s, its use
among children and adolescents has been more limited.
A lowglycemic index diet is one that emphasizes foods
that produce only a small increase in blood glucose concentration after consumption of a standard amount of
carbohydrate. Examples of high-glycemic carbohydratecontaining foods are highly refined grains and potatoes;
nonstarchy vegetables, legumes, and fruits produce
smaller increases in blood glucose concentration and are
considered to be low-glycemic foods. The stoplight approach has been applied in a study evaluating the feasibility of using a lowglycemic index diet for children 5
to 12 years of age (Young et al, 2004).
Unfortunately, there have been relatively few controlled studies of behavioral treatment for child and
adolescent obesity. A recent meta-analysis identified
treatment studies published between 1966 and 2005,
of which only nine studies met all of the criteria specified by the authors, including use of a described dietary
intervention, inclusion of a comparison group (either
untreated or treated with an alternative approach), and
use of weight change or BMI change as an outcome
(Gibson et al, 2006). These studies varied in duration
from 8 to 40 weeks and in duration of initial followup from none to 24 months and provided support for
energy restriction as being useful in short-term weight
loss, but no conclusions could be drawn with regard
to longer term weight loss or maintenance of weight
loss.
Epstein and coworkers (1994) have reported followup results of their family-based group treatment program. Combining subjects from a number of their
treatment studies, at the 5-year follow-up they found
that reinforcement of both child and parent behavior
or reciprocal targeting of children and parents yielded
better results than did a nonspecific control condition in
which children were reinforced only for attendance at
treatment meetings. Predictors of child success included
self-monitoring of weight, changing eating behavior
(eating fewer red-light foods and more selection of
low-calorie snacks), parent-reported use of praise, and
change in parent percent overweight. At the 10-year
follow-up, about one third had maintained a decrease
in percent overweight of 20% or more, and nearly 30%
were no longer overweight.
599
Surgery
Bariatric surgery includes any surgical procedure performed with the intention of inducing or supporting
weight loss among overweight individuals, including
procedures that foster a reduction in calorie intake by
restricting the size of the stomach or that induce a malabsorptive state by excluding varying portions of the
bowel. Although developed and modified over the years
to be used primarily with adult patients, these procedures have become increasingly applied to the treatment of severely overweight adolescents. The bariatric
surgery most commonly performed today is the Rouxen-Y gastric bypass, which combines elements of both
gastroplasty (15- to 30-mL pouch) and intestinal bypass
(75 to 150 cm). Recent improvements in laparoscopic
techniques and equipment have made it possible for the
Roux-en-Y to be performed with the laparoscope.
An alternative procedure, which does not permanently
alter the anatomy of the stomach and intestine, involves
placement of a band around the upper stomach with the
option of using saline injected into a subcutaneous reservoir to adjust the tightness of the band. Although adjustable gastric banding can be reversed by removal of the
band, its use in adolescent populations has been limited
by lack of Food and Drug Administration approval of
the device for patients younger than 18years.
In 2004, an expert panel of surgeons and pediatricians
developed a practice guideline for bariatric surgery in
adolescent patients (Inge et al, 2004). On the basis of evidence available at that time, the group recommended the
Roux-en-Y as having the best efficacy and safety of the
procedures available and stressed the importance of gathering additional data concerning other procedures, such
as the adjustable band. The importance of evaluating and
treating adolescents in a pediatric setting rather than in an
adult setting was also emphasized. The criteria for performance of bariatric surgery in adolescent patients emphasize physical and psychological maturity (Table 61-5).
Data concerning outcomes of bariatric surgery for
adolescents have begun to emerge in terms of outcome
and safety. A group of 10 patients, 15 to 17 years of age,
had a Roux-en-Y bypass at one center and had a mean
weight loss of 54 kg, with only one of the 10 failing to
achieve weight loss in excess of 10 kg; however, four patients suffered late postoperative complications, including an incisional hernia, cholelithiasis, protein-calorie
malnutrition, and small bowel obstruction (Strauss etal,
2001). Another series published in 2006 described 1-year
outcomes for 39 patients operated on at three centers between 2001 and 2003, ranging in age from 13 to 21 years
and all meeting the criteria described before (Lawson
et al, 2006). Postoperative weight loss produced a change
in mean BMI for the group from 56.5 kg/m2 to 35.8 kg/m2
with significant improvements in insulin sensitivity and
lipid profiles. Postoperative complications included one
death due to Clostridium difficile infection in a patient
also under treatment for osteodystrophy.
Drug Treatment
Only two drugs currently have approval of the Food and
Drug Administration for obesity treatment in the pediatric age group, sibutramine (age 16 years) and orlistat
600
Follow-up
The primary care provider should provide regular followup for the child who is involved in either an office-based
or a group treatment program. This follow-up can include periodic monitoring of the childs weight and
height as well as review of the childs self-monitoring
records for diet and physical activity. For the child who
is involved in a community-based, school-based, or
hospital-based group treatment program, the primary
care provider can provide added support, reinforcement, and encouragement to the child and family and
help the family monitor their goals and progress along
the way. Regular follow-up is suggested for at least
1 year and longer if possible.
PREVENTION
In 2003, the American Academy of Pediatrics issued
a policy statement emphasizing the importance of accurately identifying children who are overweight and
beginning efforts to increase physical activity and to
SUMMARY
Although it is not a new problem, obesity among children and adolescents has reached a level of prevalence
and severity never before seen in the United States and
throughout the world. As a result of this epidemic,
it is estimated that the current generation of U.S. children, born after the year 2000, will have a shorter
lifespan than that of their parents and that one third
of these children are likely to develop type 2 diabetes
during their lifetimes! Other comorbidities of obesity,
including hypertension, hyperlipidemia, nonalcoholic
steatohepatitis, and obstructive sleep apnea, are being
seen in a large number of overweight youth. A general
lack of physical activity, coupled with increasing use of
electronic media, and the increase in family meals eaten
out of the home, especially at fast-food restaurants, have
likely contributed to the problem. Treatment efforts
have been generally disappointing, except for intensive
family-based behavioral group programs, whereas efforts at prevention, particularly on a school or community basis, have shown short-term promise.
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Agras WS, Hammer LD, McNicholas F, et al: Risk factors for childhood overweight: A prospective study from birth to 9.5 years.
J Pediatr 145:20-25, 2004.
American Academy of Pediatrics, Committee on Nutrition: Prevention of pediatric overweight and obesity. Pediatrics 112:424-430,
2003.
Barlow SE, Dietz WH: Obesity evaluation and treatment: Expert committee recommendations. Pediatrics 102:e29, 1998. Available at:
http://www.pediatrics.org/cgi/content/full/102/3/e29.
Barlow SE, and the Expert Committee: Expert Committee recommen
dations regarding the prevention, assessment, and treatment of
child and adolescent overweight and obesity: Summary report.
Pediatrics 120:5164-5192, 2007.
Berkowitz RI, Wadden TA, Tershokovec AM, et al: Behavior therapy
and sibutramine for the treatment of adolescent obesity. A randomized clinical trial. JAMA 289:1805-1812, 2003.
Carey WB: Temperament and increased weight gain in infants. J Dev
Behav Pediatr 6:128-131, 1985.
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2000. Available at: http://www.cdc.gov/growthcharts/.
Dietz WH: Critical periods in childhood for the development of obesity. Am J Clin Nutr 59:955-959, 1994.
Dietz WH, Robinson TN: Assessment and treatment of childhood
obesity. Pediatr Rev 14:337-344, 1993.
Drucker RR, Hammer LD, et al: Can mothers influence their childs
eating behavior? J Dev Behav Pediatr 20:88-92, 1999.
Epstein LH, Valoski A, Wing RR, et al: Ten-year outcomes of behavioral family-based treatment for childhood obesity. Health Psychol
13:373-383, 1994.
Epstein LH, Paluch RA, Gordy CC, et al: Decreasing sedentary behaviors in treating pediatric obesity. Arch Pediatr Adolesc Med
154:220-226, 2000.
Erickson SJ, Robinson TN, Haydel F, et al: Are overweight children
unhappy? Body mass index, depressive symptoms, and overweight
concerns in elementary school children. Arch Pediatr Adolesc Med
154:931-935, 2000.
Gibson LJ, Peto J, Warren JM, et al: Lack of evidence on diets for
obesity for children: A systematic review. Int J Epidemiol advance
access. September 19, 2006. doi:10.1093/ije/dyl208.
Gortmaker SL, Must A, Perrin JM, et al: Social and economic consequences of overweight in adolescence and young adulthood.
N Engl J Med 329:1008-1012, 1993.
Inge TH, Krebs NF, Garcia VF, et al: Bariatric surgery for severely
overweight adolescents: Concerns and recommendations. Pediatrics 114:217-223, 2004.
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Johnson SL, Birch LL: Parents and childrens adiposity and eating
style. Pediatrics 94:654-661, 1994.
Lawson ML, Kirk S, Mitchell T, et al: One-year outcomes of Rouxen-Y gastric bypass for morbidly obese adolescents: A multicenter
study from the Pediatric Bariatric Surgery Study Group. J Pediatr
Surg 41:137-143, 2006.
Must A, Strauss RS: Risks and consequences of childhood and adolescent obesity. Int J Obes Relat Metab Disord 23(Suppl 2):S2-S11,
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Childrens Study. Int J Obes Relat Metab Disord 27:827-833,
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Resnicow K, Davis R, Rollnick S: Motivational interviewing for pediatric obesity: Conceptual issues and evidence review. J Am Diet
Assoc 106:2024-2033, 2006.
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body dissatisfaction among third-grade children: The impact of ethnicity and socioeconomic status. J Pediatr 138:181-187, 2001a.
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62
URINARY FUNCTION
AND ENURESIS
Ramzi Nasir and Alison Schonwald
Vignette
Jamal is 8 years old and his sister Shayna is 6 years old. Their mother is concerned about Jamals
frequent bed-wetting and Shaynas frequent daytime urinary accidents as well as nightly bed-wetting.
A detailed history and physical examination and a simple laboratory test enable the pediatrician to
exclude serious pathologic causes and confidently devise a therapeutic plan for each child.
Epidemiology
Like all areas of neurologic development, urinary continence progresses through a complex dynamic of biologic maturity and environmental opportunities. The
bladder holds urine by detrusor relaxation (mediated by
sympathetic fibers from spinal cord segments T10-L2)
and external urinary sphincter contraction (mediated by
the pudendal nerves from S2-4). Infant voiding is controlled by spinal cord reflex, with central nervous system
mediation. The sensation of bladder fullness is relayed
to the brain by afferent nerves in the bladder wall. By
2 years of age, 30% of children sense bladder fullness,
and by 4 years, all typical children detect the urge to void
(Jansson et al, 2005). Emptying of the bladder involves
detrusor contraction (mediated by parasympathetic cholinergic nerves from S2-4) and relaxation of the external
urinary sphincter. This centrally mediated process can
be suppressed voluntarily (Chapple and MacDiarmid,
2000).
Daytime dryness is usually complete by 3 years,
with nighttime dryness following within a year (Jalkut
et al, 2001). By 5 years, about 85% of children are dry
at night. Typical children older than 5 years void five to
eight times per day.
Prevalence of childhood daytime incontinence is estimated at 8% overall, with 13% of 4-year-olds affected,
decreasing to 4% in 13-year-olds and 2% in those older
than 18 years. Girls are about twice more likely to have
symptoms than boys are.
Excessive urine production can overwhelm an otherwise functional lower urinary tract, as seen with diabetes mellitus, diabetes insipidus, sickle cell disease with
reduced urine concentration, volume overload, and diuretic agents.
Bladder wall irritability may result from irritants
(e.g., bacteria, viruses, calciuria).
Constipation commonly causes enuresis, apparently
because the stool mass irritates the bladder and decreases
its storage volume.
Emotional stress, such as post-traumatic stress disorder, sexual abuse, or other major life changes, can lead
to regressive behaviors such as incontinence.
Functional voiding disorders are a heterogeneous
group of disorders that account for daytime incontinence
in most children. Typically, the findings on physical and
neurologic examinations are normal. Robson (1997)
suggested that the independent preschooler is more interested in his or her environment, ignoring the bodys
signal to void. Children with attention-deficit/hyperactivity disorder (ADHD) may have a higher incidence of
dysfunctional voiding symptoms, perhaps related to inattention to body signals.
Follow-up data suggest remission/improvement rates
of 60% to 91% of functional voiding symptoms within
a few years of medical attention (Hellerstein and Zguta,
2003; Saedi and Schulman, 2003; Wiener et al, 2000).
Retrospective studies link childhood urinary symptoms to
adult urinary symptoms, indicating potential long-term
morbidity.
The following categories are often used to classify
functional voiding disorders, although, practically, there
is frequent overlap in clinical presentations.
603
Evaluation
Children who fail to develop daytime urine continence
by 5 years or who develop incontinence after an interval
of complete dryness should be evaluated (Fig. 62-1).
History
A history should include review of the following signs
and symptoms.
A voiding diary with timing, presence of urgency, hesitancy, dysuria, quality of stream, hematuria, straining,
and squatting may suggest etiology. Urgency, frequency,
and dysuria are common with urinary tract infections.
Hesitancy, straining, and a weak urinary stream suggest
urethral obstruction. Children with labial adhesions or
vaginal reflux dribble urine shortly after leaving the toilet. Children with ectopic ureter or posterior urethral
valves may be constantly wet. Boys often have a drop
of urine in their underwear after using the bathroom;
however, the stain dries quickly and causes no distress
and thus is easily distinguished from enuresis.
Back pain and gait abnormalities with incontinence
suggest spinal cord disease and direct urgent neurologic
or neurosurgical evaluation.
604
Part VIIOUTCOMES
PHYSICAL FUNCTIONING
Yes
No
No
Yes
Neurologic
Cortical (e.g., epilepsy)
Spinal cord and
peripheral nerves
Psychiatric
Psychological trauma
Respiratory
Sleep apnea
Urine overproduction
Fluid overload
Diabetes mellitus
Diabetes insipidus
Other concentration
defects
Urinary tract infection
Anatomic
abnormalities
Ectopic ureter
Posterior urethral valves
Labial adhesions
Constipation
Specific behavioral
etiologies
Failure to spread the
labia during urination
Yes
Figure 62-1. Initial approach to a child with voiding difficulties (see text for details).
Physical Examination
A detailed physical examination is essential. Elevated
blood pressure might reflect renal dysfunction; signs of
fluid overload may indicate renal failure or congestive
heart failure. Palpation of the abdomen allows identification of constipated stool masses, and bladder percussion may find distention from outlet obstruction or
neurogenic disease. Examination of the back can detect
vertebral anomalies or cutaneous markers of spinal dysraphisms, such as hemangiomas or hair tufts. Neurologic
examination of the perineum involves assessment of the
sacral reflexes, including anal wink and cremasteric reflexes in boys. Rectal examination may be performed
in the cooperative child to confirm sphincter tone and
the extent of constipation. Neurologic examination of
the lower extremities can detect abnormalities related to
spinal cord disease (altered strength or gait, diminished
muscle stretch reflexes, and up-going toes).
confirmed with serum electrolyte determinations and osmolality. Glucosuria likely indicates diabetes mellitus; nitrites or white blood cells suggest a urinary tract infection.
Management
In most cases, history, unremarkable physical examination, and normal urinalysis suggest that the voiding
disorder is functional or behavioral (Fig. 62-2). Treatment of constipation often resolves urinary symptoms.
For children with concomitant daytime and nighttime
symptoms, address daytime symptoms first and then the
night symptoms, which may remit after daytime symptoms are treated.
Behavioral Approaches
All behavioral approaches require active participation
of the child. The child is expected to attempt to void at
regularly scheduled times every 2 to 3 hours, regardless
of the sensation of the need to go. Positive reinforcement encourages motivation. A wrist alarm watch that
sounds at set intervals minimizes child-parent conflict,
optimizes a childs sense of achievement, and may serve
as an additional reward for compliance with the plan.
In school, the assistance of the teacher to encourage the
child to go to the bathroom at routine intervals is essential. Regular voids can be scheduled around natural
breaks in the day, such as meals, recess, and snack. Arranging to use a private (nurses or staff) bathroom can
improve program adherence.
605
Behavioral approaches
Decrease family stress
Timed voiding
Sticker charts
Urge containment
exercises
No
Effective
Ongoing
monitoring
Yes
Anticholinergic therapy
May start anticholinergic therapy concurrently with behavioral approaches
if symptoms are severe or socially debilitating
No
Effective
(3-6 months)
Yes
Symptoms recur
1. Repeat course of
anticholinergic therapy
2. If symptoms recur after second
course of anticholinergic therapy
then
Repeat history and physical
Referral to urology
Figure 62-2. Initial assessment suggestive of functional voiding disorder (see text for details).
Stressful family dynamics must be addressed; resolution may take weeks to months. Parents may be frustrated with the childs incontinence, and their negative
affect may become an obstacle that prevents the child
from overcoming this problem. Instruct families not to
punish the child; the disorder is neither the fault of the
child nor under his or her voluntary control. Eliminate
arguing and disparaging remarks when the child has
an accident. Accidents should be handled in a matterof-fact manner, with the child taking responsibility to
change his or her clothes after wetting. Motivating strategies, such as a sticker chart for bathroom visits, can
help motivate and empower the reluctant child. With
significant family stress, we recommend a period of days
to weeks of cooling off before interventions begin,
when no discussion of accidents is allowed. Referral to
family therapy is indicated at times.
Children with functional incontinence may benefit
from urge containment exercises to increase the functional capacity of the bladder and to avoid detrusor
contractions at low urine volume. During urination, the
child stops and starts the urinary stream by contracting the muscles of the pelvic floor. Measurement of
Medication
Oxybutynin (Ditropan and Ditropan XL) is an antispasmodic, anticholinergic medication approved by the
Food and Drug Administration (FDA) for treatment of
overactive bladder. The short-acting preparation is approved for children older than 5 years; initial dosing is
2.5 mg twice daily, titratable to 5 mg three times a day.
The long-acting preparation is dosed at 5 mg once a day,
titrated to 20 mg once a day. Tolterodine (Detrol and
Detrol LA) is not FDA approved for children but is often
used in children intolerant to oxybutynin.
Anticholinergic agents can be used at the beginning of
therapy with behavioral approaches in children whose
symptoms are severe or socially debilitating and can be
added in those with urge symptoms failing to respond
606
Part VIIOUTCOMES
PHYSICAL FUNCTIONING
Genetics
Enuresis is heritable, usually autosomal dominant (although approximately 30% of cases are sporadic). If
one parent is affected, the risk that a child is affected
approximates 44%; if both parents are affected, that
risk nears 77%. Four chromosomes are linked to the
trait, but no candidate genes have been identified (von
Gontard et al, 2001).
Pathophysiology
Nighttime continence typically develops as several systems mature. With age, urine production during sleep
decreases, mediated by antidiuretic hormone. In addition, growing children have increased bladder capacity
as well as greater functional bladder capacity due to
neurologic development. Such adaptations and maturations may be absent in children with enuresis.
Monosymptomatic enuresis results from the complex
interaction of three physiologic processes: nocturia (excessive nighttime urine production); reduced nocturnal
functional bladder capacity, provoking detrusor contraction at lower than expected volumes; and difficulties with
arousal, preventing the child from appropriately responding to the stimulus to urinate. The extent of the contribution of any of these factors may be difficult to elucidate
in an individual child. Treatment strategies affect some or
all of these components. There is increasing interest in the
contribution of nocturnal calciuria to enuresis, and thus
it is a potential target for therapy (Aceto et al, 2003).
Medical disorders, such as nocturnal epilepsy and
obstructive sleep apnea, can present with bed-wetting.
Many neurologic disorders cause both diurnal and nocturnal incontinence as described before. Similarly, constipation can cause bed-wetting because of decreased
bladder capacity and increased irritability. There are
anecdotal reports of secondary enuresis associated with
pinworms and with the use of psychoactive medications,
such as selective serotonin reuptake inhibitors, valproate, and risperidone.
Enuresis can be due to psychological trauma, such
as child abuse, witness to violence, or other extraordinary stress (Fritz et al, 2004). Conversely, children with
enuresis express distress about their symptoms, and
treatment of enuresis can improve behavioral symptoms.
ADHD symptoms, such as inattention and hyperactivity, are more common in children with enuresis (Baeyens
et al, 2004), and enuresis may be more difficult to treat
in children with ADHD. In the majority of affected
children, enuresis resolves with age, suggesting developmental and maturational factors in its pathogenesis.
Treatment Guidelines
Medical disorders such as sleep apnea and epilepsy require appropriate referral. Constipation management
often ameliorates symptoms. Children with a history of
trauma should be referred for mental health evaluation
and treatment. In general, treat daytime bladder symptoms before addressing nighttime symptoms.
607
Behavioral approaches
Decrease family stress
Reward dry bed
No
Effective
(3-6 months)
Yes
Ongoing monitoring
Yes
No
Effective
(3-6 months)
Symptoms recur
Figure 62-3. Initial assessment suggestive of monosymptomatic nocturnal enuresis (see text for details).
Enuresis Alarms
Numerous studies, including randomized controlled trials, support the use of alarm therapy in nocturnal enuresis and indicate overall efficacy approximating 68%
(Glazener et al, 2005b). A typical alarm has a moisture
sensor (activated when it is exposed to a small amount
of urine) attached to the childs pajamas or underwear.
A speaker, connected to the moisture sensor, attaches to
the pajama top in the shoulder area. As the child urinates
during sleep, the alarm sounds or vibrates. Many children initially sleep through the alarm, requiring parents
to wake the child and walk the child to the bathroom to
complete voiding. In the first week, the size of the puddle
shrinks, and then during the following weeks, the child
begins to wake at the sound of the alarm as the urine
accident shrinks to a small spot. Within a few months of
consistent alarm use, the child begins waking spontaneously to urinate when the bladder is full or may sleep
through the night without urinating. We suggest a sticker
reward the first week for waking to the alarm with help,
the second week for waking without help, and the third
week for dry nights. The alarm should be used until the
child completes one full month of uninterrupted dryness.
608
Part VIIOUTCOMES
PHYSICAL FUNCTIONING
Desmopressin
This analog of antidiuretic hormone is approved by the
FDA for children over six years of age with nocturnal
enuresis. Administration of desmopressin before bedtime reduces urine production at night, counteracting
the nocturia in some enuretic children. Desmopressin
oral tablet formulation can be used daily, or on an asneeded basis for camp or sleepovers. Factors associated
with a good response to desmopressin include a history
of nocturnal polyuria and wetting less than once on a
wet night. The use of desmopressin intranasal preparation is no longer recommended due to the high risk of
hyponatremic seizures according to an FDA alert issued
in December 2007. Furthermore, the FDA recommends
that treatment with desmopressin tablets should be interrupted during acute illnesses that may lead to fluid and/
or electrolyte imbalance. All desmopressin formulations
should be used cautiously in patients at risk for water
intoxication with hyponatremia. (http://www.fda.gov/
Drugs/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders/ucm107924.htm). Symptoms of
hyponatremia (headaches, nausea, altered mental status
or seizures) should be discussed with families when prescribing this medication.
Hyponatremia risk can be reduced by preventing excessive fluid intake at night and by parental supervision
of administration to prevent overdose. A practical approach includes allowing 8 ounces of fluid at dinner and
another 8 ounces afterwards, without fluid intake two
hours before administration of the medicine at bedtime,
and for eight hours thereafter.
Anticholinergics
Anticholinergics can be helpful in cases of reduced functional bladder capacity at night or for a child with comorbid daytime voiding symptoms (i.e., urgency). A nighttime
dose of the short-acting preparation may be given with
the option of changing to the long-acting preparation if
enuresis occurs later in the night. Long-term administration is relatively safe, but monitoring for postvoid urine
residuals should be considered. Furthermore, constipation
induced by anticholinergic agents can worsen enuresis.
Imipramine
Imipramine in this scenario is dosed considerably lower
than when it is used for depression. The mechanism of action appears related to anticholinergic and central nervous
system effects. It is used for children older than 6 years at
an initial dose of 10 to 25 mg at bedtime. If the response
is inadequate after 1 week of therapy, the dose is increased
by 25 mg per day to a final dose that should not exceed 2.5
mg/kg per day or 50 mg at bedtime for 6- to 12-year-olds,
75 mg for children older than 12 years. In recalcitrant
cases, imipramine has been used in conjunction with desmopressin. Given the potential for cardiac toxicity, screening and follow-up electrocardiography and plasma drug
level determinations are recommended. In our practice, we
generally do not use imipramine; anticholinergics, desmopressin, and behavioral interventions are largely successful
with safer side effect profiles.
Approach to Nonresponders
Children who do not respond to enuresis therapies may
benefit from taking a treatment break for a few months,
with reassurance of the 15% yearly rate of spontaneous
resolution. If difficulties persist, urologic referral is indicated to assess the anatomy and function of the lower
urinary tract.
SUMMARY
Daytime incontinence and nocturnal enuresis are common pediatric disorders. The majority of cases can be
managed successfully by pediatricians after a thorough
history, physical examination, and urinalysis exclude
significant disease. First-line interventions involve behavioral therapies, starting with the formation of a caring
therapeutic alliance with the child and family. Several
pharmacologic agents can be used as adjuncts to behavioral strategies (including enuresis alarms), and specialist
referrals are reserved for patients with concerning presentations and failure to respond to studied interventions.
REFERENCES
Aceto G, Penza R, Coccioli MS, et al: Enuresis subtypes based on
nocturnal hypercalciuria: A multicenter study. J Urol 170:
1670-1673, 2003.
Baeyens D, Roeyers H, Hoebeke P, et al: Attention deficit/hyperactivity disorder in children with nocturnal enuresis. J Urol 171:
2576-2579, 2004.
609
Jalkut MW, Lerman SE, Churchill BM: Enuresis. Pediatr Clin North
Am 48:1461-1488, 2001.
Jansson UB, Hanson M, Sillen U, et al: Voiding pattern and acquisition of bladder control from birth to age 6 yearsa longitudinal
study. J Urol 174:289-293, 2005.
Kano K, Arisaka O: Efficacy and safety of nasal desmopressin in
the long-term treatment of primary nocturnal enuresis. Pediatr
Nephrol 21:1211; author reply 1212, 2006.
Robson WL: Diurnal enuresis. Pediatr Rev 18:407-412; quiz 412,
1997.
Saedi NA, Schulman SL: Natural history of voiding dysfunction. Pediatr Nephrol 18:894-897, 2003.
Van Leerdam FJ, Blankespoor MN, Van Der Heijden AJ, et al: Alarm
treatment is successful in children with day- and night-time wetting. Scand J Urol Nephrol 38:211-215, 2004.
von Gontard A, Schaumburg H, Hollmann E, et al: The genetics of
enuresis: A review. J Urol 166:2438-2443, 2001.
Wiener JS, Scales MT, Hampton J, et al: Long-term efficacy of simple behavioral therapy for daytime wetting in children. J Urol
164:786-790, 2000.
63
BOWEL FUNCTION,
TOILETING, AND ENCOPRESIS
Laura Weissman and Carolyn Bridgemohan
TOILET TRAINING
610
611
Awareness of urge,
correlated with visual and
auditory stimuli, plus
memory and habit, cause
person to seek toilet and
make other appropriate
preparations and
simultaneously cause
Levator ani
muscle
Internal
sphincter
External
sphincter
Warning
nerves
Stretched out nerves
that do not work
Body waste
Nerves
starting to have
feelings again
Body waste
hard and large
(like rocks)
Intestine
mostly
empty
Strong, thick
muscle
Normal intestine
(colon)
Space
between
rocks
Still a
few rocks
Stretched intestine
kept mostly empty, getting better
Muscle
thick and
strong again
Muscle that is
thin, weak, and
stretched
Waste not
too big
Intestine
getting too full
Stretched intestine
(megacolon)
Nerves give
good warnings
Back to normal
an intestine that works
Once a child has achieved the readiness skills, a stepby-step approach can be used to introduce, model, and
facilitate appropriate toileting behavior. A regular discussion in a story format can introduce and normalize
toileting behavior for the child. At the same time, the
toilet or potty seat can be introduced. This should be a
comfortable place to sit, and the child should have a
place to rest his or her feet. In the case of a potty chair,
612
this would be the floor; and with a toilet seat, this should
be a stool or other support. The child should have time
to sit on the potty or toilet either with or without a diaper or pull-up on and with no specific expectation for
voiding. As the child becomes comfortable, regular sitting times can be created. During this time, there can be
books or quiet activities to facilitate and to reinforce sitting. The optimal time for these sittings is approximately
20 to 30 minutes after meals as the gastrocolic reflex
increases the urge to defecate. When the child has success on the toilet or potty, she or he should be rewarded
with verbal praise or a small token. Over time, a child
will learn to request toilet time outside of scheduled sittings. This behavior should also be rewarded. When the
child is starting to use the toilet on a regular basis, the
diaper or pull-up can be removed and the child can move
to underwear.
Children learn how to toilet train at different rates.
Some children learn quickly in a few days, and others
may take a few months. If at any point in time a child is
resistant to toileting or demonstrates negative behaviors
around toileting, active training should be discontinued
temporarily. Research shows that constipation (Blum et
al, 2004; Schonwald et al, 2004) and difficult temperament traits are associated with challenges in toilet training (Schonwald et al, 2004).
TOILETING REFUSAL
In some ways, toileting refusal is a unique form of encopresis, so it presents its own challenges to treatment. In
young children who are resistant to toileting, toilet training
should be discontinued for a period of months and the
child returned to diapers. Younger children who have toileting refusal should also be assessed for constipation and
treated appropriately (Blum et al, 2004) before continuing
with training. For children with toileting refusal who are
developing typically and are older than 3 years, management is similar to that for children with encopresis but requires some modification. These children often have
acquired the basic skills needed for toilet training, but for
some other reason, whether it is related to constipation,
withholding, temperament, or other conflict, they have
been unsuccessful. As with young children, they should be
assessed for constipation and treated appropriately (see the
section on encopresis for treatment). Also evaluate medically for any contributing organic causes (refer to the encopresis portion of this chapter for details). The next step
to management involves a behaviorally based program to
desensitize a childs toileting aversion by decreasing anxiety around toileting. Start with whatever portion of toileting a child is willing to perform. For example, some children
will be stooling in a pull-on diaper or underpants at this
time. The first goal might be to have them stool in the diaper or underpants in the bathroom or on a specific mat or
while sitting on the toilet. The care provider can use a reward system to encourage completion of the goal. Once
the goal is obtained, a new goal is developed by use of a
stepwise approach. For example, a child may next sit on
the toilet wearing a diaper in which a small hole has been
cut. The size of the hole can be enlarged over time until the
child is no longer wearing a diaper. The specifics of the
Etiology
Encopresis is a complex disorder likely resulting from
physical vulnerability in the context of potentiating environmental and behavioral factors. The primary cause
is a physical predisposition to constipation, reduced bowel
regularity, and ineffective evacuation. In some cases,
there may be a history of painful bowel movement with
subsequent withholding. Children with attentional deficits, obsessions and compulsions, and oppositional behavior are more prone to encopresis (Joinson et al,
2006). Children with attention deficits may be less attuned to body signals around toileting and may have
trouble establishing a regular toilet routine. In addition,
individuals with challenging or difficult temperament
traits may be more prone to encopresis and toileting delays (Schonwald et al, 2004). Certainly, environmental
factors such as lack of access to the toilet, disorganized
home setting, and exposure to trauma or violence can
contribute to the development of encopresis. However,
a majority of children with encopresis do not have a history of emotional disturbance.
Diagnosis
Diagnosis of encopresis and constipation starts with a
thorough history and physical examination. In most
cases, this is sufficient to identify any organic disease.
613
History
Some patients do not present with encopresis until
school age, but many have had a history of stool withholding or initial toileting refusal. Some children may
have had a history of mild soiling, such as smearing, and
are not identified as having encopresis until the condition progresses to more frequent or larger accidents or
their soiling affects their functioning with peers or in
other settings.
In some children with constipation or encopresis, parents can target a specific illness or other situation that
may have immediately preceded withholding behavior.
Ask about frequency of symptoms, whether there are entire bowel movement accidents or just staining, consistency of bowel movements (hard, soft), size, and ease of
passage. A child with constipation and encopresis may
stool daily but pass only small, hard stools. Ask about
times that stool accidents occur. Most children soil between 3 and 7 pm or specifically after or on the way home
from school. Soiling at school is usually a marker of a
more severe problem. Very rarely do children soil during
sleep. Children with significant withholding may soil
just as they fall asleep when they finally relax. However,
nocturnal soiling can also be a sign of seizures.
Questions about urine accidents are also important.
Children with constipation may have urine accidents
caused by bladder spasms resulting from pressure to the
bladder. Girls with encopresis are also at risk for urinary tract infections from contamination or poor hygiene. In taking the history, ask about any previous
interventions tried. Take a diet history and include intolerances or allergies to any foods. Past medical history
should review any concerns about growth. Short stature
may be a clue to thyroid disease as a cause of constipation. A history of weight loss soon after introduction of
solids may be a clue for celiac disease. The neurologic
history should include questions about clumsiness or
newly acquired lower extremity problems, which might
be present in the case of a tethered cord. The gastrointestinal history should also include any history of explosive stools after retention or thin-caliber stools, which
may indicate Hirschsprung disease. The family history
should include questions about constipation, encopresis, colitis, irritable bowel syndrome, thyroid disease, or
similar concerns. Social history should include screening
for history of trauma or ongoing trauma. Sexual or
physical abuse is too important to miss. It is often difficult to ask about these sensitive questions, but they need
to be part of the history. The abuse may be from someone other than the parents, so ask about concerns for
the child with any other caregivers.
Physical Examination
Providers should complete a full physical examination
with focus on assessment of the abdomen and genitourinary and neurologic systems. The first part of the examination should include a look at the overall
appearance, including physical habitus and growth parameters, possible dysmorphism, and behavior and social interaction. Abdominal examination may reveal
fullness, distention, or a nontender sausage-shaped mass
614
Malformations
Anal stenosis
Partial imperforate anus
Neurogenic
Occult spinal dysraphism
Tethered cord
Tumor
Endocrine-metabolic
Multiple endocrine
neoplasia III
Thyroid disorder
Electrolyte imbalance
Neuromuscular
Muscular dystrophy
Hirschsprung disease
Medications
Sexual abuse
Diarrheal disease
615
Treatment
Clean Out
Once the diagnosis of encopresis is confirmed by thorough history and physical examination, a multimodal
treatment program ensues (Fig. 63-4). This requires
both medical management of the underlying constipation, if present, and behavioral intervention to encourage the child to use the toilet regularly. In fact, resolution
of encopresis is most dependent on diligent adherence to
a regular sitting regimen (Brooks et al, 2000).
Education
Encopresis can be emotionally overwhelming for a child
and family. Many families do not understand the underlying pathophysiologic mechanism of this disorder. As a
result, by the time most families seek medical attention,
the child may have been punished or continually reprimanded for accidents. The first step in treatment therefore is education to explain the cause and process of
encopresis. Explain the cycle of stool retention illustrated in Figure 63-2 and discuss how physical factors,
predisposition to constipation, and in some cases emotional or temperamental traits contribute to encopresis.
Let them know that there are many other children with
the same problem and that there are many things you
and they can do to make things better. Emphasize to the
family that this is not the childs fault and explain the
relapsing and remitting course of this disorder both before and after treatment. Although this portion of treatment may seem intuitive, it is integral to helping a family
remain with the treatment program. The family and
child may be quite frustrated by this time and have tried
No
Impaction?
No
Red flags?
Yes
Yes
Maintenance
medication
and behavioral
plan
Further
evaluation
Clean out
Yes
Clean out
successful?
No
Review
history and
physical examination
No
Regular follow-up
visits to review
medication and
plan
Improvement
in symptoms?
Yes
Continue
follow-up and
behavior plan
616
sodium phosphate.
Based on a table from Schonwald A, Rappaport L: Consultation with the
specialist. Encopresis: Assessment and management. Pediatr Rev 25:278-282,
2004.
Table 63-3. Medications Used for the Treatment of Constipation and Encopresis
Medication
Type of Laxative
Dose
Use
Comments
Fiber
supplement
Bulk-forming
agent
Depends on form
and brand
Mineral oil
Softener
Docusate
sodium
Softener
Lactulose
Osmotic
Magnesium
hydroxide
(milk of
magnesia)
Osmotic
1-2 mL/kg/dose
1-2 times daily
Monobasic
sodium
phosphate
enema
Osmotic, enema
Polyethylene
glycol
(PEG)
without
electrolytes
Osmotic
0.8 g/kg/day
Typically 8.5-17 g/dose
Every 17 g needs to
be mixed in 8 oz of water
or juice
Bisacodyl
Stimulant
Senna
product
Stimulant
Magnesium
citrate
Osmotic
PEG with
electrolytes
Osmotic
Maintenance
Once clean out is achieved, or if a child does not require
a full clean out, the next step is maintenance therapy
(Table 63-5). Many of the medications used for maintenance are the same as those used for clean out, such as
mineral oil or polyethylene glycol without electrolytes,
but at a lower dose. Other osmotic laxatives, such as
lactulose, or stimulants such as senna-based products
can also be useful. The goal of maintenance therapy is to
encourage regular evacuation of soft bowel movements
and to prevent recurrence of constipation. Often, medications need to be titrated to effect, and the dose may
change over time and with change in diet. The choice of
medication is often made on the basis of what a child
will take on a regular basis. Some children experience
gastrointestinal distress with stimulants or strong cathartics. Individuals have varied preferences for pills,
liquid preparations, or drinks. Polyethylene glycol without electrolytes is a good choice as it has minimal taste.
It can also be safely used up to 12 months (LoeningBaucke, 2002b). Mineral oil is another option, but the
taste is often more difficult to disguise and is best used
when cold and disguised in yogurt or pudding or flavored
617
Diet
Include a discussion of diet as part of education and
maintenance therapy. If possible, parents should encourage high-fiber foods including fruits, vegetables, and
whole grains as well as fluids. For very mild cases of
constipation, diet changes or a fiber supplement alone
may be all that is required.
Behavioral Plan
The behavior component of treatment is essential, but it
is not necessarily complex. A child requires a regimen of
regular sitting on the toilet for two reasons: first, to encourage the evacuation of stool; and second, to help the
child become comfortable with using the toilet. Initially,
a child may be resistant to sitting on the toilet for many
reasons. For one, the child may have developed a fear or
aversion to use of the toilet. In addition, the child may
have become overwhelmed by the long-standing nature
of the problem and is less willing to perform a sitting
task. The chronicity and nature of the disorder may have
also led to disrupted family dynamics and struggles between parent and child around use of the toilet. However, no matter what the source of the behavior, the plan
remains essentially the same.
The behavior plan includes motivating and rewarding a child for sitting on the toilet. The best time to sit is
20 to 30 minutes after meals as the gastrocolic reflex
encourages defecation; however, it is not necessary to
do it at this time only. It may be more convenient for
sitting to occur in the morning or directly after school.
Depending on the age of the child, she or he should be
encouraged to sit on the toilet one to three times a day
for 5 to 10 minutes at a time. The child may have a specific toy, book, or desired object during that time. The
child is not required to stool but should try if able. There
are many different ways to reward and to reinforce sitting behaviors. For preschoolers, a sticker chart can be
used as a reward, and special toys or books can be used
as reinforcers. For school-age children, stickers and
small sweets may also still be useful, but they can earn
special time or desired items by sitting. It is important to
try to minimize conflict during sitting times. The reward
system should be determined collaboratively with the
parent and child, and the child needs to voice his or her
agreement and understanding. The child then receives a
reward for performing the sitting task. If the child does
not perform the task, she or he should not be punished
or reprimanded. The child should be gently reminded
618
Other Therapies
As is common for all children with chronic medical conditions, parents often seek complementary and alternative therapies for their children. The literature is not
extensive in regard to complementary and alternative
treatment of encopresis. One review of nine randomized
controlled studies found that biofeedback did not provide an additional advantage compared with a standard
medical-behavioral approach. The authors also found
no advantage to prokinetics or acupuncture (Brooks
et al, 2000).
Outcome
Encopresis tends to be a relapsing and remitting disorder. Increased soiling and accidents are common during
times of stress, for example. Most children will improve
and many will have resolution of symptoms with treatment. The cure rate is variable but has been reported as
30% to 50% by 1 year and 48% to 75% by 5 years in
clinic samples of children with chronic constipation
(Loening-Baucke, 2002a). Outcomes vary, depending
on the medical complexity of the case as well as other
emotional and psychosocial factors involved. The longer the condition is present, the greater the impact on
child and family functioning and overall treatment. It is
important therefore to recognize and to treat this disorder as soon as possible. This also includes helping parents anticipate challenges to toilet training.
SUMMARY
The principles for successful toilet training include recognition of readiness skills and following a stepwise process that recognizes individual developmental, behavioral,
and temperamental variation. Management of toilet refusal includes ensuring soft stools and using a stepwise
approach with positive behavioral strategies. Encopresis
is common in the pediatric population and may or may
not be associated with constipation, withholding, or
toilet refusal. Encopresis is rarely caused by organic
illness, and careful history and physical examination are
usually sufficient to rule out organic disease. Management
of encopresis includes treatment and alleviation of constipation and the use of a structured sitting program with
positive behavioral strategies.
REFERENCES
Baker SS, Liptak GS, Colletti RB, et al: A medical position statement
of the North American Society for Pediatric Gastroenterology and
Nutrition. Constipation in infants and children: Evaluation and
treatment. J Pediatr Gastroenterol Nutr 29:612-626, 1999.
Blum NJ, Taubman B, Nemeth N: Relationship between age at initiation of toilet training and duration of training: A prospective
study. Pediatrics 111:810-814, 2003.
Blum NJ, Taubman B, Nemeth N: During toilet training, constipation
occurs before stool toileting refusal. Pediatrics 113:e520-e522,
2004.
Brazelton TB: A child-oriented approach to toilet training. Pediatrics
29:121-128, 1962.
Brazelton TB, Christophersen ER, Frauman AC, et al: Instruction,
timeliness and medical influences affecting toilet training. Pediatrics 103:1353-1358, 1999.
Brazzelli M, Griffiths P: Behavioural and cognitive interventions with
or without other treatments for defaecation disorders in children.
Cochrane Database Syst Rev 4. CD002240, 2001.
Brooks RC, Copen RM, Cox DJ, et al: Review of the treatment literature for encopresis, functional constipation, and stool-toileting
refusal. Ann Behav Med 22:260-267, 2000.
Joinson C, Heron J, Butler U, et al: Avon Longitudinal Study of Parents and Children Study Team: Psychological differences between
children with and without soiling problems. Pediatrics 117:15751584, 2006.
Levine MD, Bakow H: Children with encopresis: A study of treatment
outcome. Pediatrics 58:845-852, 1976.
Loening-Baucke V: Constipation and encopresis. In Lifschitz CH,
(ed): Pediatric Gastroenterology and Nutrition in Clinical Practice.
New York, Marcel Dekker, 2001, 551.
Loening-Baucke V: Encopresis. Curr Opin Pediatr 14:570-575,
2002a.
Loening-Baucke V: Polyethylene glycol without electrolytes for children with constipation and encopresis. J Pediatr Gastroenterol
Nutr 34:372-377, 2002b.
Reisner SH, Sivan Y, Nitzan M, Merlob P: Determination of anterior
displacement of the anus in newborn infants and children.
Pediatrics 73:216, 1984.
Rockney RM, McQuade WH, Days AL: The plain abdominal
radiograph in the management of encopresis. Arch Pediatr Adolesc
Med 149:623, 1995.
Schonwald A, Rappaport L: Consultation with the specialist. Encopresis: Assessment and management. Pediatr Rev 25:278-282, 2004.
Schonwald A, Sherritt L, Stadtler A, Bridgemohan C: Factors associated with difficult toilet training. Pediatrics 113:1753-1757, 2004.
Sharif F, Crushell E, ODriscoll K, et al: Current topic. Liquid paraffin: A reappraisal of its role in the treatment of constipation. Arch
Dis Child 85:121-124, 2001.
Yamada T, Alpers DH, Kaplowitz N, et al: Textbook of Gastroenterology. Philadelphia, Lippincott Williams & Wilkins, 2003.
64
Vignettes
Gregory
Gregory is 7 years old and is repeating first grade. He cannot sit still and has problems paying
attention. His parents say that he has always been like this, as long as they can remember. He was
recently diagnosed with ADHD, and his parents and teachers have seen some positive changes since
they started treatment. However, his parents are still having major problems at night, which the
medication is making worse. Gregory often refuses to get into bed, and even after they turn out the
lights, it can be hours before he is finally asleep. Both of his parents are exhausted and dread what
they call the beastly hours of the day.
Augustin
Augustin is 7 years old and was diagnosed with autism when he was 3 years old. He falls asleep with
little problem at 8:30 at night but invariably is awake by 3:00 in the morning. Most nights he does not
fall back to sleep until 5:00 am, although there are some nights when he is up at 3:00 am for the day.
He frequently falls asleep on the long bus ride home after school.
Sleep in Newborns
Newborns sleep approximately 16 to 20 hours per day,
generally in 1- to 4-hour sleep periods followed by
1- to 2-hour periods awake, and sleep amounts during
619
620
Micro sleep
environment
(sleep surface, bedding,
position)
Macro sleep
environment
(temperature, noise, light,
toxins, safety)
Sleep practices
(schedules, feeding,
napping)
Optimal Sleep
Health issues
(illness, medications,
nutrition)
Sociocultural
context
(values,
parenting practices)
Social-emotional
context
(attachment,
temperament,
maternal mental
health/stress)
Developmental
context
(sleep, cognitive)
621
622
Parasomnias
Parasomnias are defined as episodic, often undesirable
nocturnal behaviors that typically involve autonomic
and skeletal muscle disturbances as well as cognitive
disorientation and mental confusion. The most common parasomnias in childhood may be further categorized as occurring primarily during stage 4 slow-wave
or deep (delta) sleep (partial arousal parasomnias),
during REM sleep, or at the sleep-wake transition. The
partial arousal parasomnias, which include sleepwalking and sleep terrors, typically occur in the first third
of the night at the transition out of slow-wave sleep
and thus share clinical features of both the awake (ambulation, vocalizations) and the sleeping states (high
arousal threshold, unresponsiveness to the environment, amnesia for the event). Sleep terrors are typically
characterized by a very high level of autonomic arousal;
sleepwalking, by definition, usually involves displacement from bed. Both are more common in preschoolers and school-age children and generally disappear in
adolescence, at least in part because of the relatively
higher percentage of slow-wave sleep in younger children and probably also as a corollary of neurodevelopmental maturation. Sleep terrors are considerably less
common (1% to 3% incidence) than is sleepwalking
(40% of the population has had at least one episode).
Furthermore, any factors that are associated with an
increase in the relative percentage of slow-wave sleep
(certain medications, previous sleep deprivation, sleep
fragmentation caused by an underlying sleep disorder
such as OSA syndrome) may increase the frequency of
either of these events in a predisposed child (Sheldon,
2005). Finally there appears to be a genetic predisposition for both sleepwalking and night terrors, and it is
not uncommon for individuals to have both types of
episodes.
In contrast, nightmares, the most common REMassociated parasomnia in childhood, are very common, occur primarily during the last third of the night
when REM sleep is most prominent, generally include
vivid recall of dream content, and are more likely to
be triggered by anxiety or a stressful event. In general,
nightmares are fairly easily managed with a combination of behavioral, cognitive, and relaxation strategies.
However, frequent and persistent nightmares in a child
warrant further investigation of possible trauma, such
623
Narcolepsy
Narcolepsy is a rare primary disorder of excessive daytime sleepiness that affects an estimated 125,000 to
200,000 Americans (Dahl et al, 1994).
Narcolepsy is rarely diagnosed in prepubertal children, but retrospective surveys nonetheless suggest that
it frequently first is manifested in late childhood and
early adolescence. However, both pediatric and adult
patients with narcolepsy often delay in seeking medical
attention and are frequently labeled as having mood disorders, learning problems, and academic failure before
the underlying etiology is identified, as long as several
decades later. In about 25% of cases, there is a family
history of narcolepsy; secondary narcolepsy after brain
injury or in association with other medical illnesses may
also occur.
The cardinal and usual initial presenting feature of
narcolepsy is repetitive episodes of profound sleepiness
that may occur both at rest and during periods of activity (talking, eating). These sleep attacks may be very
624
and pharmacologic management strategies as well as referral to a sleep specialist may be warranted.
625
are clearly important to consider in assessing the bidirectional relationship of insomnia and chronic illness in children. Specific medical conditions that may
also have an increased risk of sleep problems include
allergies and atopic dermatitis, migraine headaches,
seizure disorders, other rheumatologic conditions such
as chronic fatigue syndrome and fibromyalgia, and
chronic gastrointestinal disorders such as inflammatory bowel disease. In addition, many over-the-counter
and prescription drugs have potentially significant effects on sleep and alertness in children, including direct pharmacologic effects, disruption of sleep patterns
(e.g., night wakings), exacerbation of a primary sleep
disorder (e.g., obstructive sleep apnea or restless legs
syndrome), withdrawal effects, and daytime sedation.
Drugs commonly used in children that may have effects
on sleep include psychotropic drugs such as stimulants
and antidepressants, antihistamines, corticosteroids,
opioids, and anticonvulsants.
Sleep disturbances often have a significant impact on
the clinical presentation and symptom severity as well as
on the management of psychiatric disorders in children
and adolescents. Virtually all psychiatric disorders in
children may be associated with sleep disruption (Dahl
et al, 1996; Owens, 2005). Studies of children with
major depressive disorder, for example, have reported
a prevalence of insomnia of up to 75% of depressed
adolescents. Sleep complaints, especially bedtime resistance, refusal to sleep alone, increased nighttime fears,
and nightmares, are also common in anxious children
and children who have experienced severely traumatic
events. Parents of children with ADHD consistently
report an increased prevalence of sleep problems, including delayed sleep onset, poor sleep quality, restless
sleep, frequent night wakings, and shortened sleep duration, although more objective methods of examining
sleep and sleep architecture (e.g., polysomnography,
actigraphy) have overall disclosed minimal or inconsistent differences between children with ADHD and
controls. Conversely, growing evidence suggests that
primary insomnia (i.e., insomnia with no concurrent
psychiatric disorder) is a risk factor for later developing psychiatric conditions, particularly depressive and
anxiety disorders.
The high prevalence rates for sleep problems found
in children with neurodevelopmental disorders such as
intellectual disability and autism spectrum disorders,
ranging from 13% to 85%, may be related to any number of factors, including intrinsic abnormalities in sleep
regulation and circadian rhythms, sensory deficits, and
medications used to treat associated symptoms (Johnson,
1996). The types of sleep disorders that occur in these
children are generally not unique to these populations
but rather are more frequent and more severe than in
the general population and typically reflect the childs
developmental level rather than chronologic age. Significant problems with initiation and maintenance of sleep,
shortened sleep duration, irregular sleeping patterns, and
early morning waking, for example, have been reported
in a variety of different neurodevelopmental disorders,
including Asperger syndrome, Angelman syndrome,
Rett syndrome, Smith-Magenis syndrome, and Williams
626
Snack
Caffeine
Evening activities
Television
Naps
Exercise
Bedtime and wake-up time should be about the same time everyday. There should not be more
than an hour difference in bedtime and wake-up time between school nights and nonschool
nights.
A 20- to 30-minute bedtime routine that is the same every night is important in setting the
stage for sleep. The routine should include calm activities, such as reading a book or talking
about the day, with the last part occurring in the room where the child sleeps.
A childs bedroom should be comfortable, quiet, and dark; a dim nightlight is fine. Children
also sleep better in a room that is cool (below 75). Avoid using a childs bedroom for
time-out or as a punishment. You want your child to think of his or her bedroom as a good
place, not a bad one.
A light snack (such as milk and cookies) before bed is a good idea. Heavy meals within an
hour or two of bedtime, however, may interfere with sleep.
Children should avoid caffeinated beverages in general and particularly for at least 3 to 4
hours before bed. Caffeine can be found in many types of soda, coffee, iced tea, energy
and performance drinks, and chocolate.
The hour before bed should be a quiet time. Avoid high-energy activities, such as rough play
or playing outside, or stimulating activities, such as playing computer games.
Keep the television set out of a childs bedroom. Children can easily develop the bad habit
of needing the TV to fall asleep. It is also much more difficult to control TV viewing if
the set is in the bedroom.
Naps should be geared to a childs age and developmental needs. However, very long naps or
too many naps should be avoided, as too much daytime sleep can result in a childs sleeping
less at night.
Children should spend time outside every day and get daily exercise.
Snack
Caffeine
Alcohol
Smoking
Sleeping pills
Do not drive drowsy
Wake up and go to bed at about the same time on school nights and nonschool nights. Bedtime
and wake time should not differ from one day to the next by more than an hour or so.
Do not sleep in on weekends to catch up on sleep. This makes it more likely that you will
have problems falling asleep at bedtime.
If you are very sleepy during the day, nap for 30 to 45 minutes in the early afternoon. Do not
nap too long or too late in the afternoon or you will have difficulty falling asleep at bedtime.
Spend time outside every day, especially in the morning, as exposure to sunlight, or bright
light, helps keep your bodys internal clock on track.
Exercise regularly. Exercise may help you fall asleep and sleep more deeply.
Make sure your bedroom is comfortable, quiet, and dark. Make sure that it is also not too
warm at night, as sleeping in a room that is more than 75 will make it difficult to sleep.
Use your bed only for sleeping. Do not study, read, or listen to music on your bed. Keep the
electronics (TV, computer, DVD player) to a minimum or, better yet, out of the bedroom
altogether.
Make the 30 to 60 minutes before bedtime a quiet or wind-down time. Relaxing, calm,
enjoyable activities like reading a book and listening to calm music help your body and
mind slow down enough to let you get to sleep. Avoid watching TV, studying, exercising,
or getting involved in energizing activities during the 30 minutes before bedtime.
Eat regular meals and do not go to bed hungry. A light snack before bed is a good idea; eating
a full meal in the hour before bed is not.
Avoid eating or drinking products containing caffeine in the late afternoon and evening. These
include caffeinated sodas, coffee, tea, and chocolate.
Avoid alcohol. Alcohol disrupts sleep and may cause you to awaken throughout the night.
Smoking disturbs sleep. Do not smoke at least 1 hour before bed (and preferably, not at all!).
Do not use sleeping pills or other over-the-counter sleep aids to help you sleep. These may be
dangerous, and the sleep problems often return when you stop the medicine.
Teenagers are at the highest risk for falling asleep at the wheel, so do not drive when you have
not gotten enough sleep.
SUMMARY
Sleep problems in children are highly prevalent and may
have a major impact on development, mood, and behavior. Differential diagnosis and systematic evaluation
of presenting sleep complaints are key; polysomnography should be considered to evaluate for sleep disordered breathing and movement disorders. All children
presenting with learning, attention, and behavior problems should be screened for primary and comorbid sleep
disorders.
REFERENCES
Dahl RE, Holttum J, Trubnick L: A clinical picture of child and adolescent narcolepsy. J Am Acad Child Adolesc Psychiatry 33:834841, 1994.
Dahl RE, Ryan ND, Matty MK, et al: Sleep onset abnormalities in
depressed adolescents. Biol Psychiatry 39:400-410, 1996.
627
65
REPETITIVE BEHAVIORS
AND TICS
Nathan J. Blum
Vignettes
A 4-year-old sucks her thumb at bedtime and while watching TV or riding in the car.
An 18-month-old bangs his head on his mattress each night as he is falling asleep. He has caused
erythema on his forehead but no bruising or swelling.
A 3-year-old has pulled out the hair on the left lateral side of her scalp and her eyebrows. She
tends to pull her hair while sucking her thumb.
A 6-month-old regurgitates his food, rechews it, and then swallows it or spits it out.
All of the children described in these vignettes are engaged in repeated and rhythmic behavior that at least on
initial appearance seems purposeless. These types of behaviors are often referred to as repetitive or stereotypic
behavior. Assessment of children with repetitive behaviors is complex because although this type of behavior is
a universal component of typical child development, repetitive behaviors can also occur across a wide spectrum
of developmental, emotional, and physical disorders. In
addition, the behavior itself may be a concern because it
causes tissue damage, is socially undesirable, or causes
the individual distress. The four cases described represent a range of behaviors with at least one that is very
likely to be benign and self-limited, one that is very concerning, and two others that require further assessment.
In this chapter, I briefly review the etiology of repetitive
behaviors and then discuss the assessment and management of these behaviors, including the ones described in
the vignettes.
ETIOLOGY
Both biologic and environmental factors are important
in causing or maintaining repetitive behaviors. Studies of infants have found that repetitive behaviors are
nearly universal phenomena that occur with a distinctive developmental progression. For example, hand
sucking occurs in most typically developing infants
within 2 hours of birth; foot kicking begins between 2
and 3 months of age; object banging and body rocking begin at approximately 6 months of age; and hand
clapping begins at 7to 8 months of age (Kravitz and
Boehm, 1971; Thelen, 1996). The nearly universal occurrence of these behaviors in the first year of life and
their distinctive developmental progression have led to
630
CLASSIFICATION
Classification of repetitive behaviors is a complex and
controversial topic. A system that adequately accounts for
all of the following facts has not been developed: (1) some
repetitive behaviors occur almost universally during typical child development; (2) some individuals experience repetitive behaviors as adaptive, whereas others experience
the behaviors as intrusive; (3) repetitive behaviors usually
appear not to have a function but in some cases serve
an important communicative function or serve to relieve
stress; (4) repetitive behaviors occur in many different
forms; and (5) the form of the behaviors occurring across
a wide range of developmental, medical, and psychiatric
disorders may be very similar in appearance.
The classification system for repetitive behaviors used
in the fourth edition of the Diagnostic and Statistical
Manual of Mental Disorders (DSM-IV-TR; American
Psychiatric Association, 2000) and The Classification
of Child and Adolescent Mental Diagnoses in Primary
Care: Diagnostic and Statistical Manual for Primary Care
(DSM-PC), Child and Adolescent Version (Wolraich
et al, 1996) is shown in Table 65-1. This system emphasizes some forms as separate disorders (e.g., trichotillomania) but lumps many other topographies together
under the category of stereotypic movement disorder
or ignores them entirely. For a repetitive behavior to be
classified as stereotypic movement disorder, it must be
viewed as purposeless and cause impairment. Repetitive
REPETITIVE BEHAVIORS
Sucking
Sucking of the hand, fingers, or thumb has been observed in utero as early as 29 weeks of gestation and
is a nearly universal phenomenon in healthy neonates
within hours after birth (Kravitz and Boehm, 1971).
Sucking is viewed as a biologically driven behavior that
develops into a habit in some children. Both genetic and
environmental factors contribute to thumb sucking as
one twin study found that 58% of monozygotic twins
were concordant for frequent thumb sucking compared
with only 33% of dizygotic twins (Ooki, 2005).
Thumb or digit sucking may be adaptive for many
infants and toddlers in that it may provide stimulation to
delay the onset of boredom during periods of low stimulation, and it may help soothe the child when he or she
is tired, sick, or upset. In some children, thumb sucking
may occur in response to emotional stress or anxiety,
but thumb sucking has not been found to be consistently associated with specific behavioral or emotional
disorders. The habit is usually harmless in infants and
young children, but it has been associated with a number
of sequelae when it persists, especially at high frequency
or intensity, beyond the age of 4 to 6 years. Some of the
most frequent sequelae of thumb sucking involve dental problems, such as an anterior open bite, decreased
631
Repetitive BehaviorsDisorders
Stereotypic movement disorder (307.3)
Motor behavior that is repetitive, often seemingly driven, and nonfunctional. The behaviors are clearly associated with social dysfunction
and stigmatization.
Trichotillomania (312.39)
Recurrent pulling out of ones hair, resulting in noticeable hair loss. Associated with tension before hair pulling and gratification or relief
after pulling.
Transient tic disorder (307.21)
Single or multiple motor and/or vocal tics that occur many times a day, nearly every day, for at least 4 weeks, but for no longer than 12
consecutive months.
Chronic motor or vocal tic disorder (307.22)
Single or multiple motor or vocal tics, but not both, have been present at some time during the illness. The tics occur many times a day
nearly every day or intermittently throughout a period of more than 1 year.
Tourette syndrome (307.23)
Similar to chronic motor or vocal tic disorder except that both multiple motor and one or more vocal tics have to be present at some time
during the illness.
Banging
Rhythmic banging behaviors, such as the banging of
ones hand or an object against a surface, occur commonly during the development of typical infants and are
not discussed further.
Head banging is the most dramatic banging behavior and the one that is most likely to elicit concern
from parents. Head banging involves the rhythmic hitting of the head against a solid surface, often the crib
mattress but sometimes harder surfaces. It occurs in
5% to 19% of children during the infancy and toddler years. Most often, it occurs when the child is tired
or alone, such as at bedtime, but it may also occur as
part of a tantrum (Sallustro and Atwell, 1978). Many
632
Description
Reminder therapy
and rewards
Elastic bandage
approach
Aversive taste
treatments
Intraoral
appliances
children who bang their heads have had other rhythmic behaviors, often body rocking or head rolling, earlier in infancy. Each episode of head banging usually
lasts for less than 15minutes, but episodes lasting a
few hours may occur. Although the frequency of head
banging declines rapidly after 18months of age, 1% to
3% of children continue the behavior after the age of 3
years, and uncommonly it persists into the elementary
school years.
Although most children who bang their heads do not
have physical illness, in some cases, the onset of head
banging has been associated with episodes of otitis media and with teething. In these cases, head banging has
been postulated to serve as a pain-relieving function.
Head banging when a child is relaxed is not a sign
of a developmental or emotional disorder. In addition,
this type of head banging does not cause injuries to the
brain, although occasionally it can result in callus formation or abrasions at the site of the banging. Typically
developing children who head bang during tantrums
do not usually injure themselves, although occasionally
they may make a mistake and bang on a surface that is
harder or sharper than they expect, causing a bruise or
laceration. They do not usually bang on this surface a
second time. Thus, with the exception of children with
severe developmental disabilities (most commonly autism) or bleeding disorders, head banging does not usually result in significant injury.
Treatment primarily involves reassurance of the parents
that head banging alone is not a sign of another disorder
and that injury is unlikely. If the child is banging against
a hard surface, padding the surface decreases the chance
of abrasions or contusions. In most cases, parents should
be counseled to ignore the behavior while it is occurring.
This is especially true for head banging during tantrums,
which may be inadvertently reinforced by the parent. This
may occur if the head banging results in parental attention
in the form of concern or punishment or causes a parent
to give into a childs demands in an attempt to stop the
head banging. In children with developmental disabilities,
Body Rocking
Body rocking occurs in most infants during the first year
of life. It usually begins around 6 months of age and has
been reported to occur most frequently when infants are
listening to music or are alone in their cribs. It usually
involves a rhythmic forward and backward swaying of
the trunk at the hips that occurs most frequently in a
sitting position but also in the quadruped position. It
can be gentle or violent enough to shake or even move a
crib. The peak prevalence has been variably reported to
be between 6 and 18 months of age, with a rapid decline
in the prevalence of the behavior after 18 months of age.
Most episodes of uninterrupted body rocking last for
less than 15 minutes, but Sallustro and Atwell (1978)
found that 12% of parents reported that their children
had episodes lasting 15 to 30 minutes.
Body rocking persists beyond the age of 2 years in
approximately 3% of typically developing children, and
its prevalence may increase again at school age. On selfreport measures, more than 20% of adults and college
students state that they engage in body rocking. A variety of functions of rocking behaviors have been proposed, including self-stimulation and tension reduction.
In children with developmental disorders and children
with visual impairments, body rocking has been associated with a lack of environmental stimulation.
In most cases, body rocking does not cause significant functional impairment or stigmatization. However,
cases in which rocking occurs throughout most of the
day, interfering with functional activities and causing
significant impairment or stigmatization, have been described in children and adults. These cases meet criteria
for stereotypic movement disorder.
Breath-Holding Spells
Breath-holding spells (BHS) are not typically thought of
as a repetitive behavior, but they do have some similarities to repetitive behaviors in their management. BHS
are reflexive events in which the child becomes apneic
at end-expiration. Typically, there is a provoking event
that causes anger, fear, frustration, or minor injury
and results in the childs beginning to cry. The crying
may be brief or prolonged and gradually intensifying.
In either case, the crying stops at end-expiration when
the child becomes apneic and cyanotic or pale. In some
cases, the spell resolves at this point as the child takes
a deep breath (simple BHS); whereas in other cases, the
event continues and the child may lose consciousness
and fall to the ground. On occasion, the child may have
a brief seizure. After the event, there may be a period of
drowsiness.
BHS are generally reported to occur in 4% to 5% of
the pediatric population. Rarely, they may begin in the
first month of life but most frequently begin between 6
and 18 months of age. Approximately half of children
will have resolution of their BHS by 4 years of age, and
it would be very unusual for the spells to persist beyond
8 years of age (Dimario, 1999).
BHS may be divided into three subtypes: cyanotic
spells, pallid spells, and mixed spells. Autonomic dysregulation is thought to play a role in all three subtypes.
Cyanotic spells are the most common, and the autonomic
dysregulation is thought to lead to inhibition of respiratory effort. In addition, abnormalities in pulmonary
reflexes may lead to ventilation-perfusion mismatches
that cause cyanosis. Pallid spells are related to an overactive vagal response leading to bradycardia or brief
asystole. Children with pallid BHS may be at increased
risk for having episodes of vasovagal syncope as adolescents or adults. Children with mixed spells may have
both inhibition of respiratory effort and bradycardia.
There is a genetic predisposition to BHS, with a positive
family history found in 20% to 35% of those with BHS
(Dimario, 1999).
The differential diagnosis of BHS includes seizures,
cardiac arrhythmias, and a brainstem tumor or malformation (e.g., Arnold-Chiari malformation). Anemia
may increase the frequency of BHS, and treatment with
ferrous sulfate (5 mg/kg per day) has been reported to
decrease the frequency of the spells (Daoud et al, 1997).
BHS have also been reported to occur with increased
frequency in children with familial dysautonomia and
Rett syndrome, but they would not be the sole manifestation of these disorders. Usually, the history of a provoking event and the presence of color change before the
loss of consciousness allow one to distinguish BHS from
seizures on clinical grounds, but electroencephalography is occasionally helpful. If a child has pallid spells,
one should consider obtaining an electrocardiogram to
evaluate the child for conditions associated with cardiac
arrhythmias, such as long QT syndrome.
BHS are frightening to parents. Treatment primarily
involves reassurance that the spells will not harm the
child and demystification of the events leading to the
loss of consciousness. Parents should understand that if
633
Nail Biting
Nail biting is uncommon in preschool children but is
common in school-age children, occurring in 30% to
60% of children at the age of 10 years. The incidence
then decreases to about 20% during adolescence and
about 10% during adulthood (Leung and Robson,
1990). During childhood, the incidence of nail biting is
similar in boys and girls; but during adolescence and
adulthood, more boys than girls bite their nails. Nail
biting is often thought to be an indication of tension
or anxiety. In some cases, the habit itself may be the
source of tension within the family. It has been reported
that monozygotic twins show concordance for the habit
about twice as frequently as dizygotic twins do, suggesting a possible genetic contribution (Ooki, 2005).
Nail biting is usually confined to the fingernails, and
most individuals bite all 10 nails equally. On occasion,
specific fingernails are bitten (or avoided) selectively,
and some individuals bite toenails. The bitten nails are
short and irregular. Sometimes the skin margins of the
nail bed or the cuticle are bitten. This may result in paronychia or, in cases of oral herpes, development of herpetic whitlow on the bitten finger. In severe cases, nail
biting may cause scarring of the nail bed, bleeding, and
damage to the dentition.
When specific stressors related to nail biting can
be identified, treatment should be directed at helping
the child to cope with these stressors. Efforts should
be made to be supportive of the child because punishments, nagging, and ridicule related to the nail biting are
likely to worsen the behavior or to create other difficulties in the parent-child relationship. Good nail hygiene
is recommended because the rough nail edges may be
irritating and worsen the behavior. In adolescents and
634
Rumination
Rumination is characterized by the regurgitation of food
into the mouth followed by rechewing and reswallowing or expulsion. Rumination has been described most
frequently in infants and in individuals with intellectual
disability, although recent reports have emphasized that
it can also occur in typically developing youth (Chial
et al, 2003; Khan et al, 2000).
Infant rumination syndrome is characterized by stereotypical and repetitive contraction of abdominal and
related muscles leading to the regurgitation of food as
described before. Typically, the onset is between 3 and
8 months of age, and the regurgitation is not associated
with signs of distress. Infant rumination syndrome is associated with severe sensory and emotional deprivation
causing failure-to-thrive and, if untreated, potentially
lethal dehydration and malnutrition. The diagnosis can
usually be made by observation of the feeding and the
rumination episodes and by the fact that it does not occur during sleep or when the infant is actively involved
in engaging activities. Exclusion of medical causes of
regurgitation, such as pyloric stenosis, esophageal obstruction, or gastroesophageal reflux, can usually be
done by history. Infant rumination syndrome should be
considered in the differential diagnosis of children diagnosed with gastroesophageal reflux as many infants
with rumination are initially misdiagnosed as having
reflux.
Infant rumination syndrome has been described
in both severely deprived home situations and neonatal intensive care units. In the latter setting, efforts to
promote parent-infant bonding and to make intensive
care units more responsive to the needs of infants have
made infant rumination syndrome rare. Treatment involves increasing the nurturing of the infant. This may
involve use of a temporary mother-substitute to hold,
comfort, and feed the infant while the mother is taught
to recognize and to respond to the infants physical and
emotional needs.
Rumination has been reported to occur in up to 10%
of individuals with severe intellectual disability living
in institutions (Fredericks et al, 1998). These individuals
need a thorough evaluation for medical conditions possibly associated with rumination, such as gastroesophageal
reflux, esophagitis, and anatomic defects. The possible
role of medications that may alter esophageal function,
such as antipsychotics and benzodiazepines, needs to be
considered. Complications associated with rumination
in these cases include weight loss, malnutrition, electrolyte disturbances, halitosis, and dental erosions.
As in infants, rumination is thought to begin as a
self-stimulatory behavior when it occurs in individuals
with intellectual disability. If rumination results in social attention or leads people to avoid asking the individual to engage in tasks, these responses may reinforce
the behavior. Increasing overall levels of environmental
stimulation and providing reinforcement for alternative behaviors may be effective interventions. A novel
behavioral intervention is food satiation, in which large
Bruxism
Bruxism refers to the grinding and clenching of teeth. It
is common in both children and adults. In children, the
incidence of bruxism has been reported to vary between
7% and 88%, with most studies reporting an incidence
between 15% and 30% (Cash, 1988). During childhood, bruxism increases in frequency, reaching a peak
between the ages of 7 and 10 years and then decreasing
after that. The peak at 7 to 10 years has been postulated
to be related to the mixture of deciduous and permanent
teeth that are present at this age.
Diurnal (daytime) bruxism should be distinguished
from nocturnal bruxism. Nocturnal bruxism is associated with both grinding and clenching of the teeth and
generates tremendous forces that produce audible grinding sounds. In general, each episode of nocturnal bruxism is brief, and during a night of sleep, an average of
42 seconds of bruxing occurs (Attanasio, 1991). In contrast, diurnal bruxism usually does not produce grinding
sounds (except in individuals with central nervous system dysfunction) because it is associated primarily with
clenching of the teeth, and the forces generated are less
than those produced during nocturnal bruxism. Diurnal bruxism is thought to be related to other oral habits
such as nail biting or lip biting and chewing on objects
as these behaviors tend to occur in similar settings.
Symptoms from bruxism are less common in children
than in adults. In children, the most common symptom
is pain on palpation over the muscles of mastication
(Cash, 1988). Other symptoms, such as dysfunction of
the temporomandibular joint, recurrent headaches, and
thermal hypersensitivity of the teeth, may be related to
bruxism in some cases. The most common sign of bruxism is abnormal wearing of the teeth. Hypermobility of
the teeth, injury to the periodontium, fractured teeth,
and pulpitis may also occur.
Investigations of bruxism have not identified clear
etiologic factors, and it is likely that its cause is multifactorial in most cases. Studies have centered on dental
occlusion problems and psychological factors. The role
of dental occlusal discrepancies in bruxism remains controversial. Whereas some studies have suggested that the
Picking
Picking behavior may involve picking at the skin or
nose. There has been little systematic study of nose
picking, although survey studies suggest that more than
90% of adolescents and adults report nose picking and
4% to 8% report eating what they picked (Andrade and
635
Trichotillomania
Trichotillomania is a disorder characterized by recurrent
pulling of ones own hair, resulting in alopecia (Fig. 65-1).
Typically, hair is pulled from the scalp, eyebrows, or
eyelashes, but hair pulling can involve any site in which
hair grows, including axillary and pubic hair. On occasion, hair may be pulled from dolls, pets, or other
materials. Many will tickle their lips or nostrils with
the hair, and 5% to 18% engage in trichophagia (Tay
et al, 2004). The DSM-IV classifies trichotillomania as
an impulse control disorder and requires that individuals
experience an increasing sense of tension before pulling
out their hair and a sense of gratification or relief when
pulling out their hair. However, both of these aspects of
DSM-IV are controversial as trichotillomania has also
been described as part of the obsessive-compulsive disorder spectrum of behaviors, and a significant portion
of individuals with clinically significant hair pulling do
not report this sense of tension and gratification (Bohne,
2005). Thus, the prevalence of trichotillomania depends
on the criteria used to make the diagnosis. Using DSM-IV
criteria, Christenson and colleagues (1991) found a lifetime prevalence of trichotillomania of 0.6% in college
freshman. However, hair pulling resulting in alopecia is
636
Habit Cough
Figure 65-1. Hair loss due to trichotillomania. Note the nonanatomic distribution of the hair loss and the hairs of multiple different
lengths. (Photograph courtesy of Dr. Albert Yan.)
637
638
Risperidone
Olanzapine
Ziprasidone
Typical Antipsychotics
Haloperidol
Pimozide
2-Adrenergic Agonists
Clonidine
Guanfacine
0.05-0.3 mg/day
or
0.003-0.01 mg/kg/day
in 3-4 doses per day
0.5-3.0 mg/day
or
0.015-0.05 mg/kg/day
in 2-3 doses per day
*Doses above these ranges are often accompanied by significant side effects.
639
Sustain Compliance
Habit inconvenience reviewhave individual review in detail all problems associated with target behavior.
Social support procedurefamily members and friends provide high levels of praise when a habit-free period is noted.
Public displayindividual demonstrates to others that he or she can control the target behavior in situations in which the behavior occurred
in the past.
doses higher than those listed in Table 65-3 are sometimes used, it is unusual to have a dramatic decrease in
tics at higher doses. In some cases, it can be difficult to
distinguish between a response to medication and the
natural waxing and waning that occurs with tics.
A small placebo-controlled trial of the dopamine D2
receptor blocker metoclopramide demonstrated that this
medication also decreased the frequency of tics (Nicolson
et al, 2005). Although this medication may be less likely
to cause the cognitive blunting and dysphoria that can
be seen with antipsychotic medications, it can cause the
extrapyramidal effects seen with antipsychotics.
The 2-adrenergic agonists clonidine and guanfacine
are less effective than antipsychotics in suppressing tics
but still may be used as the first-line medication because
they have fewer side effects. In addition, these medications may help decrease hyperactivity and are often used
in children with ADHD and a tic disorder. Maximum
efficacy of these medications may not be seen for 3 to 4
weeks; but even at this point, 50% to 75% of individuals report little or no improvement in tic symptoms. The
most common side effect of these medications is sedation, which, although it tends to decrease during the first
3 to 4 weeks of treatment, still limits the use of these
medications in some children. Rapid discontinuation of
these medications can produce rebound hypertension as
well as worsening of the tics, and thus the medications
should be tapered before they are discontinued.
Injection of botulinum toxin into the muscle group
involved in the motor tic or into the laryngeal folds in
the case of a vocal tic has been shown to decrease tic
frequency. Benefit is limited to the anatomic site of the
injections, and thus this treatment is most useful for individuals with one or two problematic tics. Injections
need to be repeated every 3 to 9 months. Adverse effects
include weakness of the injected muscle or loss of voice
volume when the laryngeal folds are injected (Scahill
et al, 2005).
Nonpharmacologic treatments for tics, including habit
reversal (see the section on habit reversal), relaxation
HABIT REVERSAL
Habit reversal is a multicomponent behavioral treatment (Table 65-4) that has been demonstrated to
beeffective for a wide variety of repetitive behaviors
including thumb sucking, nail biting, hair pulling, and
tics (Miltenberger et al, 1998). The components of the
treatment are designed to accomplish four goals: (1)to
increase the individuals awareness of the habit, (2)
to teach individuals a competing response to engage
in when they feel as if they are about to engage in the
habit, (3) to help sustain compliance, and (4) to facilitate
generalization.
Since the original description of the habit reversal,
modifications of the procedure have also been demonstrated to be effective. Studies that have evaluated
components of the original procedure suggest that the
training to increase awareness of the habit and the
use of the competing response are the most important
components of the treatment. The social support procedures may have particular importance in children. Other
studies have added components to the habit reversal
procedure, including progressive muscle relaxation, relaxed breathing, and visual imagery.
Studies of habit reversal in young children (younger
than 6 to 7 years) and those with developmental disabilities suggest that habit reversal may not be as effective
in these groups as in adolescents and adults. If a child is
not motivated to change the behavior or if the repetitive
behavior is resulting in significant conflict between the
parent and child, these issues need to be managed before
attempting to implement this treatment. Teaching patients the habit reversal procedures takes some time and
experience. Most often, patients are taught the habit reversal procedure by a behavioral psychologist, but other
clinicians interested in treating habits can learn to use
the procedure effectively.
640
to release endogenous opiates may maintain the behavior, and effective treatment with the opiate antagonist
naltrexone has been described (Thompson and Caruso,
2002). Other biologic variables may affect the likelihood that an individual will engage in self-injurious behavior. Increased rates of self-injurious behavior have
been suggested to occur in association with menstruation, physical conditions such as otitis media, fatigue,
and allergies. Although it is unlikely that these factors
directly cause self-injury, they could certainly decrease
ones tolerance for task demands or frustration and thus
alter the likelihood of a specific events triggering selfinjurious behavior.
For a review of the assessment and treatment of selfinjurious behavior, see Schroeder, Oster-Granite, and
Thompson (2002). Briefly, the treatment plan must first
protect the individual from significant injury. In some
cases, this may involve the use of helmets or even restraints, but these devices limit adaptive functioning and
thus are best used as temporary measures to protect the
individual until an assessment is completed and an effective treatment plan is implemented.
An assessment must include an evaluation of the potential communicative role for the behaviors. Although
in some cases the communicative role of the behaviors
may be clear to care providers, in many cases it is not.
When it is not clear, a functional analysis may be necessary. The procedure uses interviews in combination with
observation of the behavior across the day and in some
cases observation of the behavior under controlled conditions to identify its communicative function. When a
communicative function is identified, treatment should
focus on training the individual to use more adaptive
means for communicating his or her needs.
On occasion, a communicative function for the selfinjurious behaviors is not identified or the self-injury is
so severe that pharmacologic intervention is required.
Atypical antipsychotics are the most frequently used
medication in this situation. However, these medications must be used with caution because of their
potential for severe side effects (see Table 65-3).
Research into the use of other medications, such as
mood-stabilizing anticonvulsants, opiate antagonists,
serotonin reuptake inhibitors, and beta-blockers, may
allow more targeted pharmacologic treatment for selfinjury in the future.
SUMMARY
A wide variety of repetitive behaviors are common during childhood. They are often normal variations, such as
thumb sucking and rocking, requiring only reassurance
and counseling of adults not to reinforce the behaviors.
However, at times, repetitive behaviors may be a sign
that a child is experiencing significant distress, or the
behaviors may occur in conjunction with a significant
developmental, behavioral, or emotional disorder. In addition, the repetitive behaviors may become problematic
because they cause stigmatization, subjective distress, or
tissue damage. Evaluation of all of these possibilities is
necessary for clinicians to help families develop a plan
for effective intervention.
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American Psychiatric Association: Diagnostic and Statistical Manual
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Attanasio R: Nocturnal bruxism and its clinical management. Dent
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Cash RG: Bruxism in children: Review of the literature. J Pedodont
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Chial HJ, Camilleri M, Williams DE, et al: Rumination syndrome in
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641
Part VIII
66
OUTCOMES
DEVELOPMENTAL
MOTOR DEVELOPMENT
AND DYSFUNCTION
Paul H. Lipkin
Vignette
Daniel has been referred by his pediatrician for a neurodevelopmental consultation because of
concerns noted at his 9-month preventive care visit. At his 6-month visit, he was able to roll in both
directions and sit with two-arm support. He could grab a toy with each hand and transfer it from one
hand to the other. Dr. Gordon noted then that Daniels tone was slightly increased at his hips, but he
was meeting gross and fine motor milestones close to the usual time. At the 9-month visit, the office
staff administered developmental screening, and Dr. Gordon noted concerns in the area of gross
motor development. Daniel was unable to sit without support and could not crawl on his hands and
knees. He passed his screening in all other areas of development, including fine motor. During the
physicians examination, Daniels tone remained increased at the hips, and his deep tendon reflexes in
the legs were brisk. Dr. Gordon referred Daniel for further medical consultation and to a local physical
therapist and the county early intervention program.
At the neurodevelopmental consultation, Dr. Barthel confirmed Daniels delay in gross motor
development and found that Daniel had strong and persistent asymmetric tonic neck and tonic
labyrinthine reflexes and bilaterally increased hip adductor and ankle tone. She explained to Daniels
parents that his gross motor delay was due to cerebral palsy, primarily affecting his legs. A magnetic
resonance imaging scan was performed later, verifying that Daniel had periventricular leukomalacia.
Daniel began an active treatment program of physical therapy. He pulled himself to stand at 10
months, but did not sit without support until 15 months. By 24 months, Daniel was walking on his
toes with two-hand support. After medical treatment for the increased tone, Daniel began walking
independently at 2 years of age.
named toddler years with independent walking, climbing, and running. Fine motor development is centered
on shoulder, arm, and hand use, with refinement of
movement into small hand and arm movements such as
the pincer grasp of late infancy or throwing during the
toddler and preschool years. Delays in the acquisition
of these skills result from slow or disrupted maturation
of the nervous or musculoskeletal system, causing a
spectrum of motor disorders. These motor dysfunctions
range from mild motor coordination disorders to the
more severe disorders of central nervous systembased
cerebral palsy or peripheral motor systembased neuromuscular disease.
643
644
Week of Onset
(Approximate)
7
8-16
8-16
9-12
12-14
10-16
10-16
10-13
Adapted from de Vries JIP, Visser GHA, Prechtl HFR: Fetal Motility in the First
Half of Pregnancy: Continuity of Neural Functions from Prenatal to Postnatal
Life. London, Spastics International Medical Publications, 1984, pp 46-64.
645
fluid in a dark, restricted cavity to the experience of exposure to gravity; changing light, sound, and temperature;
and absence of spatial restriction. The adaptive roles of
these movements adjust with the environmental change.
Although the movements assist in fetal positioning during the intrauterine period, they play new roles after
birth (Einspieler and Prechtl, 2004). Alternating fetal
leg movements become the stepping reflex. Finger and
toe flexion become the newborns palmar and plantar
grasps. Lateral head movements turn toward stimulated
perioral areas as the rooting reflex used in the newborns feeding. Intrauterine sucking and swallowing of
amniotic fluid similarly serve in feeding. New responses
to the changed environment are identifiable in neonates.
New respiratory function requires the protective reflexes
of coughing and sneezing. Vestibular responses, including the tonic labyrinthine reflex and the Moro response,
assist in spatial orientation and protection.
In the first 2 months after birth, the predominant
observable spontaneous movements are the general
movements described in Prechtls method (Einspieler and
Prechtl, 2004, 2005). From term birth to 6 to 9weeks
of age, these movements are writhing in nature, small to
moderate in amplitude and speed. The writhing movements evolve into fidgety movements, small movements
of the neck, trunk, and limbs in an awake infant, of
moderate speed and variable acceleration. From 3 to 6
months, fidgety movements occur together with saccadic
arm movements, wiggling-oscillating, swipes, finger manipulation, reaching and touching, leg lifting, hand-knee
contact, trunk rotation, and axial rolling. The fidgety
movements persist until approximately 20 weeks, when
intentional antigravity movements dominate.
The brainstem-mediated primitive reflexes that
emerged during the intrauterine period peak or increase
in intensity during early infancy (Capute, 1986, Capute
et al, 1984). The Moro response that results in arm
abduction followed by adduction and flexion with sudden head extension is strongest at term. The ATNR, the
fencer posture of ipsilateral limb extension and contralateral flexion produced with lateral head rotation,
peaks at 8 to 10 weeks. The tonic labyrinthine reflex is
produced with head extension or flexion with the infant
and results in leg extension and shoulder retraction with
head extension or leg flexion and shoulder protraction
with head flexion. It peaks at approximately 5 weeks in
an infant lying supine and 20 weeks in an infant lying
prone. Other notable reflexes that can be elicited in early
infancy include the Galant, positive support response,
symmetric tonic neck reflex, lower and upper extremity
placing responses, stepping, crossed extension, and
downward thrust response (Capute, 1986).
At approximately 8 to 10 weeks after birth, the infants
pattern of movement alters. The changes now result in
new movement and activity centered on adaptation to
the extrauterine environment. Antigravity responses
emerge owing to advancing central neural development and increased muscle power (Prechtl, 1984). The
primitive reflexes are progressively suppressed and later
inhibited by higher cortical pathways by approximately
6 months post-term, allowing for the progressive emergence of volitional movement (Capute et al, 1982, 1984).
646
Mean Age
3.6
4.8
5.3
6.3
6.7
7.5
7.8
8.1
8.8
11.7
14.3
14.8
647
Mean Age
2.7
3
4.1
4.7
5.7
7.8
9.4
9.9
11
11.5
16
17.5
21.3
22.3
25.1
29.6
31.1
32.6
35.7
648
Gross Motor
In gross motor development, advancement occurs in
strength and balance. A child advances from walking
to running at 15 months. A child can creep upstairs and
descend them backward at this age. At 18 months, the
child can walk up the stairs with hand assistance and
may descend through bouncing on the buttocks. The
toddler becomes a facile climber onto higher surfaces
and in and out of chairs. A squatting position can be assumed and used during exploratory play. By 24 months
of age, the child can sit on a riding toy and propel himself or herself forward with his or her feet. The child
gains ease and speed in running and climbing, and these
are actively used in outdoor play. At 212 years, the toddler confidently climbs and descends stairs using two
feet per step while holding the railing. The toddler can
jump with two feet down a step. A large ball can be
kicked.
A 3-year-old ascends and descends stairs using alternating feet. The child can run faster and turn with ease,
pedal a tricycle (3 wheels at 3 years) with appropriate
steering, and kick a ball with greater force. Brief onelegged standing can be elicited, and cross-legged sitting
is observed. At 4 years, the child ascends and descends
stairs similar to an adult. Climbing slides, ladders, and
trees can be achieved. The 4-year-old typically advances
in riding skills to a four-wheeled bicycle with training wheels (4 wheels at 4 years). One-legged standing,
hopping, and jumping can be accomplished for several
seconds. By the time a typical child is 5 years old and
is entering elementary school, he or she is capable of
refined gross motor skills, allowing various indoor and
outdoor skills to develop for athletic activities, such as
ball play and gymnastics, or musical activities, such as
dance (Sheridan et al, 1997).
Fine Motor
After achieving development of the mature pincer grasp,
further skill development is observable through object
manipulation, easily incorporated into tasks observed at
home or tested by a developmental examiner. At this
point, fine motor development evolves into more advanced visual motor development, relying on these motor skills and visual perception and intellectual problem
solving. Developmental professionals use the monitoring
of fine motor development during the toddler years and
beyond in the evaluation of intelligence and prehension
and graphomotor skill. Adults observe the child using
these skills in play, daily living tasks, and learning.
Gesells early observations (Gesell et al, 1940) established patterns for childhood graphomotor development.
Current norms from the Capute Scales (Accardo and
Capute, 2005) establish that the average toddler can pick
up a large crayon and make a mark at 12 months. At 15
months, the toddler scribbles in imitation. The toddler
develops spontaneous scribbling by 18 months. At 24
months, the toddler holds a pencil and imitates a stroke,
and then draws specific horizontal and vertical strokes at
30 months. By age 3 years, the child draws a circle and
begins to draw a human figure. Continued graphomotor
development results in the child drawing increasingly
649
identified through physical stigmata, hypotonia and motor delay are important factors in the developmental pattern of affected children.
Developmental Surveillance
Pediatricians and other child health care professionals
perform developmental surveillance at every well-child
preventive care visit (American Academy of Pediatrics
Council on Children with Disabilities et al, 2006). Surveillance is defined as a flexible, longitudinal, continuous, and cumulative process whereby knowledgeable
health care professionals identify children who may have
developmental problems. Surveillance consists of five
components: (1) eliciting and attending to the parents
concerns about their childs development, (2)documenting and maintaining a developmental history, (3)making
accurate observations of the child, (4) identifying risk
and protective factors, and (5) maintaining an accurate
record of documenting the process and findings. Through
obtaining the developmental history based on the norms
of early motor development, and through the observation of a childs motor skills, the primary care provider can begin the process of early identification in the
medical home of children with motor disabilities.
The history and observation can help determine
whether a child has developmental delay, deviancy, dissociation, or regression in motor development (American
Academy of Pediatrics Council on Children with Disabilities et al, 2006; Capute and Accardo, 1996b).
Achild most commonly is found to be delayed in milestone attainment across several visits, or developmentally delayed, acquiring skills later than do age peers.
Other children may be noted to achieve milestones out
of the typical order, defining developmental deviancy or
deviation. In the spastic diplegia form of cerebral palsy,
a child may be noted to have deviancy in gross motor
development, as when a child rolls and crawls, but does
not sit. Deviancy also can be seen in fine motor development, as when a child with the spastic hemiplegic
form of cerebral palsy can grasp with the left hand, but
remains fisted on the right.
Developmental dissociation is commonly observable,
as when a child with delayed or deviant motor development has a different pattern of development in other
areas. A child with cerebral palsy may have delays or
deviancy in motor skills, while having better skills in
language and intellect. A child with intellectual disability or a child with an autism spectrum communication
disorder may have typical or mildly delayed motor development, while experiencing delays or deviancy in
attaining language skills. Finally, a child who plateaus
in motor development or frankly loses motor skills has
developmental regression, suggestive of a serious metabolic or neurodegenerative disorder, such as a leukodystrophy. Surveillance can be a powerful tool for the
pediatric health care provider for the early identification
of neurodevelopmental disabilities.
Developmental Screening
Developmental screening involves the administration
ofa brief standardized tool to identify children at risk for
a developmental disorder. Screening is performed when
650
SUMMARY
A childs motor development is a continuous process
from fetal life to maturity, evolving from development
of the central and peripheral nervous systems. Fetal
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67
CEREBRAL PALSY
Laurie Glader
and
Ann
Tilton
Vignette
David is a 7-year-old boy with spastic diplegic cerebral palsy. He was born at 29 weeks
gestation and had early difficulties with airway management and feeding. An ultrasound revealed
periventricular cystic formation, but no evidence of bleeding. David ultimately did well and was
discharged home from the neonatal intensive care unit at the gestational age of 38 weeks. He was
able to breastfeed and had no need for oxygen.
David developed a quick social smile and clearly indicated interest in his environment early on.
He developed good facility with his hands, playing with toys and feeding himself. He was delayed,
however, in his ability to sit, crawl, and pull to stand. A brain magnetic resonance imaging study at age
2 years indicated periventricular leukomalacia, and he was diagnosed with cerebral palsy.
Now in first grade, David is a happy student who participates in the regular academic curriculum.
He continues to have motor symptoms, primarily in his lower extremities. David walks with a walker
and wears ankle foot orthoses to optimize his gait. He has received botulinum toxin A (Botox)
injections on several occasions to reduce the tone in his calves. Drooling has been an indolent
problem, and his parents have spoken with the pediatrician about the possibility of starting
treatment with an anticholinergic medication. David also wears glasses for esotropia. He attends
multiple medical and therapeutic appointments for issues related to his cerebral palsy. Overall,
however, David is thriving and has frequent play dates with classmates after school.
DEFINING TERMS
Cerebral palsy (CP) is the most common motor disorder
in children; current prevalence estimates range from 1.5
to 2.5 of every 1000 live births (Surveillance of Cerebral Palsy in Europe, 2000). The definition of CP has
evolved over time, but has been updated more recently.
CP describes a group of disorders of the development
of movement and posture, causing activity limitations
that are attributed to non-progressive disturbances that
occurred in the developing fetal or infant brain. The
motor disorders of CP are often accompanied by disturbances of sensation, cognition, communication, perception, and/or behaviour, and/or by a seizure disorder
(Bax et al, 2005).
CP represents a group of movement disorders diverse
in their etiologies, but with the commonality that they
are caused by static change to the young developing
brain. A period of observation is required to make the
definitive diagnosis. If there is clinical indication of progressive symptoms, another diagnosis must be considered. Although the more recent definition preserves the
motor disorder as a prominent feature, it emphasizes
the likelihood of other impairments, which may be even
more significant functionally or developmentally.
This expanded definition includes a classification
scheme with reference to motor abnormalities, associated impairments, anatomic and radiologic findings,
and causation and timing. In this scheme, the movement
ETIOLOGY
CP encompasses a heterogeneous group of etiologies
and a wide variation in clinical presentation. Despite advances in medical care, CP seems to have been increasing
in prevalence since the mid-1970s because of advances
in neonatal care for premature infants. The risk of CP
is 90 per 1000 live births if the birth weight is less than
1500 g, and 50% of CP cases occur in infants with a
birth weight of less than 1000 g (Miller, 1998).
Neuroimaging supports the current thought that antepartum causes of CP, such as brain malformations, intrauterine vascular malformations, and infection, are far
more common than birth asphyxia (Truwit et al, 1992).
Although intrapartum asphyxia originally was thought
to be a major contributor to CP, it accounts for only
10% to 20% of cases (Nelson and Ellenberg, 1986).
The most frequent perinatal/neonatal etiologies in low-
birth-weight infants are periventricular leukomalacia,
periventricular hemorrhage, and cerebral infarction,
whereas in infants of normal birth weight, hypoxicischemic encephalopathy is most often the cause. Postnatal causes, such as meningitis, typically result in
653
654
Spastic
Diplegia: legs more involved than arms
Quadriplegia: all four extremities
equally involved
Hemiplegia: one-sided involvement,
usually arm more than leg
(Double hemiplegia: arms involved
more than legs, usually asymmetric)
Dyskinetic
Hyperkinetic or choreoathetoid
Dystonic
Ataxic
Mixed
83%
44%
6%
33%
17%
It is important for the general practitioner to recognize a child with evolving signs and symptoms of CP
(Table67-2). Generally, the diagnosis is made when a
child presents with delays in motor milestone acquisition and abnormalities of tone, coupled with specific
findings on examination that indicate a cerebral origin.
Even if skills are not delayed chronologically, they may
be qualitatively affected (e.g., a hemiplegic infant crawls
in an asymmetric manner). It is important to establish that there has been no loss of previously acquired
function or sign of progressive neurologic dysfunction,
eliminating neurodegenerative disorders that may masquerade as CP.
The history provides an important context for making
the diagnosis of CP. Details about birth, such as prematurity, complications of labor and delivery, or multiple
gestation, are red flags. Feeding difficulties are another
red flag. Poor latching onto the breast or bottle, choking while eating, or difficulty keeping food in the mouth
all may reflect oromotor dysfunction. Concerns about a
childs reduced or exaggerated response to sound or visual input are important to pursue given the prevalence
of sensory deficits in children with CP, as is any report
of stigmata of seizure activity.
On examination, the key to identifying an infant with
CP generally lies in the neurologic presentation. General
appearance may reveal dysmorphic features, which can
be helpful in identifying a genetic etiology. Most often,
however, a child with early signs of CP presents with
abnormal tone. Even in a child who ultimately develops
spasticity, tone may be diminished. Increased deep tendon reflexes, clonus, and persistent primitive reflexes are
classic hallmarks of upper motor neuron dysfunction.
Pathologic reflexes always should raise concern, such as
a crossed adductor response, in which tapping the reflex
on one leg elicits a response in the opposite leg. This
response indicates a lack of appropriate inhibition of the
655
1+
2
3
4
656
Oral Medications
Oral medications are often tried for relief of muscle
overactivity, although their usefulness is often limited
by their tendency to produce sedation and drowsiness,
along with exacerbation of gastroesophageal reflux, constipation, and hypoventilation or upper airway obstruction. The principal medications are benzodiazepines,
baclofen, tizanidine, and dantrolene sodium. The choice
of medication is empiric, and rigorous studies supporting their efficacy are sparse, with many trials dating
from the 1970s and 1980s (Gracies et al, 1997).
Benzodiazepines
The benzodiazepines increase -aminobutyric acid
(GABA)induced inhibition through their facilitative
action at GABA-A receptors, a major kind of inhibitory
synapse in the central nervous system (Simonds, 2005).
Diazepam is the most commonly used benzodiazepine
in clinical use. Its effectiveness in spasticity reduction in
children, especially children with athetosis, was shown
in trials from the 1960s. Clonazepam also has been
shown to be effective in children with CP.
Baclofen
The GABA-B agonist baclofen is widely used in children
with CP, although only a single placebo-controlled trial
of oral baclofen in CP has shown its ability to reduce spasticity and improve passive and active limb movements.
Tizanidine
Studies in adults have shown the clinical efficacy of tizanidine, an 2-adrenergic agonist, which acts on spinal
interneurons to inhibit release of excitatory amino acids.
Support for the use of tizanidine in CP is primarily based
on these adult studies and case reports in children.
Dantrolene Sodium
In contrast to other antispasticity medications, dantrolene exerts its effects at the level of the muscle, reducing calcium efflux and decoupling excitation and
contraction. Although there is physiologic evidence
supporting reduced force and spasticity, clinical and
functional improvement has not been as convincingly
shown.
Botulinum Toxin
Pharmacology
The bacterium Clostridium botulinum produces seven
serotypes of BTX, A through G, each of which is a proteolytic enzyme. Each serotype targets one or more of
the vesicle fusion proteins that allow acetylcholine vesicles to fuse with the membrane at the neuromuscular
junction. BTX prevents release of acetylcholine, weakening the muscle.
Two serotypes, A and B, are approved by the U.S.
Food and Drug Administration and by European regulatory agencies for use in humans. In the United States,
neither is approved for use in CP. Each serotype differs
in its exact target, duration of action, antigenicity, and
adverse effects profile. The clinical effects of injection are
usually seen within several days, with the peak effect at
approximately 4 weeks. There is a gradual loss of benefit
over time, as the nerve terminals recover, and the muscle
strengthens again. Reinjection is typically required at
3 to 6 months. Experience has shown the importance
of reinjecting no more frequently than every 3 months,
and keeping the dose to the minimum, to reduce the risk
of development of neutralizing antibodies. Switching to
the alternative serotype is possible if antibody-based resistance occurs, but may not provide long-lasting benefit
(Brin and Aoki, 2002).
Clinical Practice
In the CP population, the most appropriate candidate
for BTX injection is one for whom the weakening of
a few muscles has the potential to provide meaningful benefit in care, comfort, or function. Because it is
a focal treatment, BTX does not affect cognition, and
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Intrathecal Baclofen
The amount of baclofen needed to reduce tone can be
dramatically reduced, and adverse effects minimized, by
directly delivering it to the intrathecal space. Intrathecal baclofen is delivered with the SynchroMed infusion
system (Medtronic, Minneapolis, Minnesota). In this
system, a pump and drug reservoir are implanted subcutaneously in the abdomen, and a catheter is inserted into
the intrathecal space at the mid to upper thoracic level.
The pump can be remotely programmed with a handheld device, and the reservoir can be refilled percutaneously, usually every 12 to 24 weeks.
Intrathecal baclofen is most useful in patients with
significant muscle overactivity, with involvement of
multiple upper and lower muscle groups and lower extremity spasticity of 3 or greater on the Ashworth scale.
Screening is performed with a bolus infusion, with a
threshold of reduction of 1 unit on the Ashworth scale
being the usual standard for proceeding with pump
implantation.
Intrathecal baclofen has been shown in clinical trials
to reduce muscle overactivity, particularly in the lower
extremities, and to improve long-term function. The most
significant gains are in reduced spasticity, easier care and
transfers, and reduced pain, whereas the effects on ambulation may be unpredictable and variable. Complications
include infection, pump malfunction, catheter kinking
or breakage, and drug withdrawal. The family must be
educated about the signs of and response to withdrawal,
which may be life-threatening (Murphy et al, 2002).
658
Orthopedic Surgery
With the advent of better treatments and the recognition of the importance of early intervention, the need
for orthopedic surgery to correct fixed contracture in
CP has declined sharply, from 40% for children born
in 1990-1991 to 15% for children born in 1994-1995
(Hagglund et al, 2005). Nonetheless, even with early
tone intervention and optimal care, many children with
CP eventually require orthopedic surgery. Equinus or
equinovarus are the most common deformities, necessitating lengthening of the heel cords.
Seizure Disorders
Forty-three percent of children with CP have seizure disorders, most commonly children with spastic quadriplegia and hemiplegia where there is more cortical injury
(Russman and Ashwal, 2004). Control of seizures is crucial. Seizures can have a considerable effect on a childs
level of alertness and overall developmental presentation. Treatments vary in their effectiveness. They range
100%
43%
65%
28%
12%
38%
Neurobehavioral Concerns
Numerous neurobehavioral concerns arise in children
with CP. Typical manifestations include inattention,
internalizing behavioral problems, immature adaptive
skills, and self-injurious behaviors. Inattention may
be primarily neurologic, consistent with a diagnosis of
attention-deficit/hyperactivity disorder. It also may indicate subclinical seizures, depression, discomfort, anxiety,
or fatigue. The interplay between a myriad of medical realities can result in some of these maladaptive behaviors
such that they are of a secondary rather than primary
etiology. This situation demands a different approach
to treatment and knowledge of the potential associated
medical concerns. It can be challenging to elucidate the
etiology of neurobehavioral symptoms in a child with
CP, particularly if communication impairment exists.
The diagnosis of neurobehavioral origin is generally one
of exclusion, after other explanations, such as discomfort or fatigue, have been ruled out.
Hearing Impairment
Some degree of hearing loss occurs in 12% of children
with CP. Most commonly, hearing loss relates to a history of kernicterus, very low birth weight, meningitis, or
Visual Impairment
At least 28% of children with CP have some sort of visual impairment, and some studies place the prevalence
at closer to 40%. Patients with a history of periventricular leukomalacia seem to be particularly vulnerable to
visual impairment. The range of ophthalmologic problems encountered includes retinopathy of prematurity,
nystagmus, amblyopia, refractive errors, optic nerve
atrophy, and cortical blindness (Rudank et al, 2003).
All children diagnosed with CP must be screened by an
ophthalmologist. A functional vision assessment looks
for the presence of visual field cuts and behaviors, such
as the use of peripheral vision and gaze preference. All
of these can affect a child socially and academically.
Pseudobulbar Palsy
Pseudobulbar palsy, or deranged lower brainstem function caused by bilateral corticobulbar disruption, affects
the oromotor musculature in children with CP and is
present 38% of the time. From a functional standpoint,
it affects speech production and intelligibility, chewing,
swallowing, and drooling.
659
660
Gastrointestinal Issues
Numerous gastrointestinal issues are present in a child
with CP. Poor growth and nutrition are common
(Sullivan et al, 2000). The sequelae of malnutrition are
important to recognize. Endurance and ability of a child
to perform to the best of his or her developmental potential can be affected. Postoperative wound healing can
be compromised, and susceptibility to infection may be
increased.
Decreased oral intake may reflect underlying gastrointestinal disorders, particularly conditions relating to
dysmotility. A child with poorly controlled gastroesophageal reflux or constipation may be quite uncomfortable. Treatment of these underlying disorders can have
a marked effect on appetite. An appetite stimulant can
be effective sometimes as adjunctive therapy. Caloric enhancement and work with a nutritionist to optimize caloric goals can be central to helping a child to overcome
a malnourished state.
A common reason for decreased oral intake is oromotor dysfunction, which can be exaggerated by
challenges with overall tone and poor positioning.
Treatments to enhance oromotor control and safety include modification of food textures, feeding techniques,
and seating. A therapist with expertise in feeding can
play an invaluable role for a child struggling with oral
feeding. In more extreme cases, feeding orally cannot
be managed safely, and evaluation for direct enteral
feeds (e.g., placement of a gastrostomy tube) must
occur.
Many children with CP struggle with difficulty gaining weight; however, on occasion, obesity is a problem.
When it occurs, the child faces increased challenges to
overall motor activity and coordination. Again, involving a nutritionist to identify ideal caloric goals can be
quite useful.
Sleep Disorders
Sleep disorders are prevalent in children with CP. Etiologies include, among others, primary obstructive
sleep apnea; discomfort, which requires thorough
evaluation for a wide range of medical risks;
and a primary neurologic manifestation of sleepwake cycle abnormality or even seizures. Soporifics may be effective, but airway obstruction, pain,
and seizures must be ruled out before initiating
treatment.
DEVELOPMENTAL CONCERNS
Impact on the Child
A child with CP is at risk for various developmental
concerns, limitations in autonomy, and, subsequently,
compromised self-esteem (Table 67-7). Because of the
fundamental manifestations of CP, motoric delays or
disabilities are ubiquitous. Coupled with the prevalence
of intellectual disability, many children show significant
restriction in activity and social participation (Beckung
and Hagberg, 2002). Functionally, children can be
limited in their abilities to eat, dress, perform school
tasks, and participate in some forms of play. Oromotor
dysfunction can have a tremendous impact on speech
production, affecting a childs ability to communicate
effectively. Additionally, a child may be dependent on
assistance to eat. Children may be aware of their differences from peers. Matters that are usually private, such
as personal hygiene, may require assistance. Social relations, self-esteem, and mood are affected. As adolescents
approach adulthood, consideration must be given to
how safely they may be able to live independently, and
the realities of potential vocational opportunities.
One of the most important developmental concerns
for a child with CP is the ability to communicate.
A childs ability to communicate is crucial to how he or
she is perceived in the world and links directly to his or
her sense of autonomy. Communication impairment can
be underappreciated. This is particularly true in a child
with choreoathetotic CP, who may have tremendous mechanical challenges with speech production, but whose
cognition and receptive language skills may be strong.
Medical influences on communication in children
with CP abound. Receptively, a childs ability to understand and react to his or her environment may be
clouded by intellectual disability, visual or auditory impairment, seizures, inattention, discomfort, or fatigue.
Expressively, speech is affected by issues relating to
pseudobulbar palsy. Breath control provides the power
for speech and relies on a complex integration of many
structures in the head, neck, and trunk, which might be
altered in a child with CP. Breath volume may be decreased, the rate may be too rapid, and exhalation may
be poorly controlled. Craniofacial differences, such as
cleft lip or palate, also may interfere with speech production or breath control.
A multitude of augmentative technologies exist
to enhance a childs ability to communicate. These
Impact on Families
Having CP can affect virtually every aspect of daily life
for a child and his or her family. The stresses families
grapple with are wide ranging and include medical concerns for their child; interfacing with multiple medical,
therapeutic, and educational providers; managing multiple agencies (e.g., medical suppliers, nursing); coordination nightmares; financial hardship; multiple insurers;
exhaustion and lack of community supports or services.
The National Survey of Children with Special Health
Care Needs reflects concerning financial realities (Haflon
and Olson, 2004). According to the study, 39.5% of
families of children with special health care needs indicate their childs or youths condition impacts the
familys financial situation; 13.5% say they spend 11 or
more hours per week coordinating care for their child
or youth; 24.9% indicate they cut back on work because of their childs or youths condition; and 28.5%
indicate they stop working because of their childs or
youths condition. Understanding these stresses helps
the primary care provider guide families toward appropriate support services. This can include agency support
for funding and case management and psychosocial
support.
661
has been studied and has documentable benefits for improving balance and truncal strength. Music therapy,
massage, Reiki, and craniosacral therapy have been
studied to a lesser extent. Hyperbaric oxygen treatment
has been heavily sought by families of children with CP,
but further data is needed at this point to support its
utility.
SUMMARY
CP is prevalent. Primary care providers need to be aware
of its early manifestations and proactive in its identification and management. Initial workup should include
brain MRI as well as vision, hearing, and developmental assessments. A child with hemiplegia also should
undergo evaluation for coagulopathy. Knowledge of
commonly associated neurologic and medical complications allows for vigilant monitoring and early referral
for appropriate intervention. The developmental effects
of medical problems commonly associated with CP cannot be overstated, and early intervention is indicated to
support a child in exploring his or her full potential.
Although there currently is no cure for CP, prevention
and slowing of the associated medical and developmental complications can dramatically enhance the quality
of life for a child. Ultimately, the focus of care is to promote health, function, and independence for all children
with CP.
REFERENCES
Bax M, Goldstein M, Rosenbaum P, et al: Proposed definition and
classification of cerebral palsy, April 2005. Dev Med Child Neurol
47:571-576, 2005.
Beckung E, Hagberg G: Neuroimpairments, activity limitations, and
participation restrictions in children with cerebral palsy. Dev Med
Child Neurol 44:309-316, 2002.
Brin MF, Aoki KR: Botulinum toxin type A: Pharmacology. In Mayer
NH and Simpson DM (eds): Spasticity: Etiology, Evaluation,
Management, and the Role of Botulinum Toxin. New York, WE
MOVE, 2005, pp 110-124.
Carlson WE, Vaughan CL, Damiano DL, et al: Orthotic management of
gait in spastic diplegia. Am J Phys Med Rehabil 76:219-225, 1997.
Dorman J, Pellegrino L: Making the diagnosis of cerebral palsy. In:
Caring for Children with Cerebral Palsy. Baltimore, Brookes Publishing, 1998, pp 31-54.
Fennell EB, Dikel TN: Cognitive and neuropsychological functioning in children with cerebral palsy. J Child Neurol 16:58-63,
2001.
Gracies JM, Elovic E, McGuire J, et al: Traditional pharmacologic
treatments for spasticity, part I: Local treatments. In Mayer NH
and Simpson DM (eds): Spasticity: Etiology, Evaluation, Management, and the Role of Botulinum Toxin. New York, WE MOVE,
2005, pp 44-64.
Gracies JM, Nance P, Elovic E, et al: Traditional pharmacological
treatments for spasticity, part II: General and regional treatments.
Muscle Nerve Suppl 6:S92-S120, 1997.
Haflon N, Olson LM: Introduction: Results from a new national
survey of childrens health. Pediatrics 113:1895-1898, 2004.
Hagglund G, Andersson S, Duppe H, et al: Prevention of severe contractures might replace multilevel surgery in cerebral palsy: Results
of a population-based health care programme and new techniques
to reduce spasticity. j Pediatr Orthop B 14:269-273, 2005.
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68
INTELLECTUAL DISABILITY
Ellen Roy Elias and Allen C. Crocker
It has long been usual practice to refer to IQ measurements of 70 or less as compatible with intellectual
disability (or mental retardation). It is important to
acknowledge the imprecision of IQ determination, however, and to use approximately 70 to 75 or less as a
psychometric boundary. If taken literally, this determination would move many individuals from the borderline
normal range into intellectual disability, but the point is
well taken that preoccupation with small number differences does not do justice to the basic principles of this
field. At any age, 1% to 2% of the population tests in
the range of intellectual disability, with most (85% to
90%) falling in the area of mild disability.
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664
Chromosomal Abnormalities
Patients with chromosomal abnormalities, including
trisomy, duplications, deletions, and unbalanced trans
locations, generally present with the following constellation of findings: unusual facial appearance (dysmorphic
facies), unusual limbs, growth failure, anomalies involving internal organs (e.g., CNS dysgenesis, congenital
heart disease, renal dysplasia), and developmental/cognitive disabilities. Any child presenting to the developmental pediatrician with this constellation of findings
warrants a formal genetic assessment and genetic testing.
Unusual features may be quite subtle, such as mild webbing of the second and third toes or a bifid uvula, and
sometimes may be missed by providers not experienced
in dysmorphology examinations. This is why a formal
genetic consultation is often helpful. The developmental
pediatrician often has a good sense, however, that the
child does have unusual findings, and it is appropriate
to secure basic genetic testing if there is a suspicion of
a problem.
Advances in technology have led to a gradual change
in the recommendations as to which specific genetic tests
should be considered and are most likely to result in a
clear diagnosis. The following tests are recommended in
the evaluation of a child with cognitive/developmental
disabilities who also has other unusual features, growth
issues, or birth defects.
microarray (see next). Multicolor FISH testing is a useful technology that can help define further complex
chromosomal rearrangements.
Molecular Testing
Molecular testing is the direct DNA testing of a specific
gene to detect changes or mutations. Common examples
include testing for the specific changes that cause fragile
X syndrome (expansion of the CGG trinucleotide repeat
and methylation of the gene) and mutational testing to
detect changes in the MECP2 gene, which causes Rett
syndrome.
Molecular testing also can be helpful for certain conditions that are known to be associated with imprinted
genes, such as Angelman syndrome. Many patients with
Angelman syndrome have a deletion on chromosome
15 in the Prader-Willi/Angelman syndrome region, detectable by FISH or microarray. A subset of patients
have Angelman syndrome because the DNA has been
mismarked, however, or the patient has inherited two
copies of DNA from the father (uniparental disomy),
which appears normal on FISH testing, but is detectable
with methylation testing of the gene.
Metabolic Testing
Most metabolic disorders are rare, and it would not
be cost-effective or sensible to screen all children with
cognitive disabilities for all metabolic disorders. Certain
symptoms and physical features should trigger concern,
however, for the possibility of a metabolic disorder and
prompt additional workup (see Chapter 30). Clinical
findings that should increase suspicion for a metabolic
disorder include the following:
665
Certain metabolic disorders, such as Smith-LemliOpitz syndrome, have a spectrum of severity, and the
mild end of the spectrum may manifest with only cognitive disabilities and subtle features, such as second and
third toe syndactyly. The input from a clinical geneticist
and sometimes a metabolic geneticist is often helpful
with these patients because a simple blood test can
detect this disorder, which has a 25% recurrence risk in
future pregnancies (Elias et al, 1997).
Head Imaging
The technology of head imaging has seen major
advances in the past 10 years. There have been significant advances in computed tomography and magnetic
resonance imaging, the two major imaging techniques
that are readily available in most medical centers. These
advances allow very detailed visualization of subtle CNS
abnormalities, vascular malformations, and even metabolic derangements.
Because it is expensive, and often requires sedation in
young infants or older, less cooperative patients, head
imaging is not indicated in every child diagnosed with
cognitive disabilities. Imaging may be quite helpful,
however, in certain circumstances as detailed subsequently, and may provide the clues toward making a
correct, definitive diagnosis. A computed tomography
scan is helpful for eliminating acute pathology, such as
an intracranial hemorrhage or stroke or hydrocephalus,
but magnetic resonance imaging is the preferred study
in most cases because it allows for more detailed imaging and a much better view of the posterior fossa. The
following findings in a child with cognitive disabilities
should prompt the developmental pediatrician to consider obtaining head imaging:
Other Issues
Obtaining accurate and detailed information regarding
maternal obstetric history, pregnancy, delivery, and family history is essential. A maternal history of multiple
miscarriage or infertility increases the possibility of a
chromosomal or other genetic problem being present.
Use of advanced reproductive techniques, such as in
vitro fertilization (IVF) or gamete intrafallopian transfer (GIFT), is now believed to be associated with an
increased risk of disorders related to epigenetic errors
such as imprinting errors. If the medical history or family history reveals this information, consultation with a
geneticist may be indicated (Table 68-1).
666
Psychiatric Disorders
Various psychiatric disorders in the child, parents, or
both also can lead to a modified developmental course
and ultimate intellectual disability. Maternal schizophrenia can be such a setting, as can a serious intrinsic
psychic atypicality in the child. The autism spectrum
disorders are a group of disorders with multiple underlying etiologies, which in most instances manifest
behavioral/psychiatric and cognitive disabilities. Children with velocardiofacial syndrome also may manifest
cognitive disabilities and psychiatric disorders, such as
schizophrenia or bipolar disorder.
Many patients with intellectual disability have significant behavioral issues, such as hyperactivity, selfstimulatory or self-injurious behaviors, and sleep disorders
which are quite challenging for their families and themselves. The input of a child psychiatrist in the management of patients with dual diagnosis (i.e., intellectual
disability and psychiatric problems) can be particularly
667
Hereditary Disorders
(preconceptional basis; variable expression, multiple somatic effects, sometimes a progressive course)
Inborn errors of metabolism (e.g., Tay-Sachs disease, Hurler syndrome, phenylketonuria)
Other single gene abnormalities (e.g., neurofibromatosis, tuberous sclerosis, diverse syndromes)
Chromosomal aberrations, including translocation, fragile X syndrome
Polygenic familial syndromes, including some causes of autism
Mitochondrial disorders
32
(sporadic events affecting embryogenesis; phenotypic changes, usually a stable developmental disability)
Chromosomal changes, including trisomy (e.g., Down syndrome, microdeletion disorders)
Prenatal influence syndrome (e.g., intrauterine infections, drugs, unknown forces)
Multifactorial disorders (e.g., spina bifida)
11
(impingement on progress of fetus during the second half of pregnancy or in the newborn period; neurologic
abnormalities frequent, disability stable or occasionally with increasing problems)
Fetal malnutritionplacental insufficiency
Perinatal difficulties (e.g., prematurity, hypoxia, trauma)
18
(dynamic influences, operational throughout development; commonly combined with other disabilities)
Psychosocial deprivation
Parental neurosis, psychosis
Emotional and behavioral disorders
Autism, childhood psychosis
Unknown Causes
30
(no definite hereditary, gestational, perinatal, acquired, or environmental issues; or else multiple elements present)
*Experience of the Developmental Evaluation Center, Childrens Hospital, Boston (3000 children with intellectual disability).
Adapted from Crocker AC: The causes of mental retardation. Pediatr Ann 18:623, 1989.
668
669
People First organizations and others, such as Self Advocates Becoming Empowered, are assisting all of us toward
better understanding (Dybwad and Bersani, 1996).
Coordination of medical care also may be a major responsibility. The professions have traditionally underestimated the magnitude of parental contributions to the
success of a childs course (Crocker, 1997).
When one interviews families about the pressures felt
and the supports desired, the most prominent strategic
requirements are the following:
These reflect the diverse areas of activity and outreach enjoined by a family with a child who has a developmental disability. The search for special knowledge is
discussed in two books by and for parents: A Difference
in the Family: Life with a Disabled Child by Featherstone, and Since Owen: A Parent-to-Parent Guide for
Care of the Disabled Child by Callanan.
Particular regard is due for brothers and sisters, as
they grow up and help in households with children who
have intellectual disability (Powell and Gallagher, 1992).
These young individuals ultimately have the longest term
relationships with the child with intellectual disability,
and their understanding and support traditionally have
not received appropriate attention. Brothers and sisters
often must deal with alterations in the normalcy of family rhythm, competition for parental resources and attention, possible misconceptions about the origins or
670
Transitions
In the first full definition of developmental disabilities,
included in 1978 in Public Law 95-602, it was understood that the need for special services is lifelong.
School and agency programs tend to build discrete units
of activity oriented to particular age periodsinfancy,
preschool, school years, young adult, adult, and elderlywith limited provision for coordination of the
carryover periods. The two periods of transition for
young individuals with intellectual disability that prove
to be the most pressing are (1) movement from early
intervention services to public preschool at 3 years of
age, and (2) graduation of youth from education services (and entitlements) at 21 years into the potential
for further vocational training and employment as an
adult.
For youth and young adults in the latter circumstance, there are many chances for discontinuity. This
is an interval of notable personal challenge for intrinsic
reasons. Adolescents with mild and moderate disabilities
are confronted with difficulty in relating to their impetuous normal peers. Their thinking is often different than
that of typical teenagers, and behavior may be altered
by comorbid affective disorders, such as depression and
anxiety (Dekker and Koot, 2003). The emergence of
sexual feelings is bewildering because these are seldom
realistically acknowledged by parents or service providers (Murphy and Elias, 2006). Pubertal individuals with
a cknowledgment must be made at least to The Arc (national, state, local), United Cerebral Palsy Association,
Epilepsy Foundation, National Down Syndrome Congress, Parent to Parent, Federation for Children with
Special Needs, TASH, Association for the Care of Childrens Health, Alliance of Genetic Support Groups, National Tay-Sachs and Allied Diseases Association, and the
National MPS Society.
671
Individuals with these serious degrees of developmental disability raise special personal challenges. It is
axiomatic in human development (and in education)
that continued learning and progress are a fundamental response to adequate stimulation for all except those
who are in coma, but in these situations the gains can be
painfully slow, and the feedback not of the conventional
sort. Individual interactions have their own language and
their own special rewards. Most clinical psychologists
restrict the use of the term profound mental retardation
to individuals in whom the adaptive components are
extremely restricted, rather than using the IQ definition primarily. Profound disability is a more reasonable
term because in these individuals complexity of problems is the rule. Since the 1970s, the promulgation of
no reject programs for education, family support, and
general activities has allowed many quiet miracles of
personal triumph to occur; this refers to fulfillment for
the individuals with severe special needs as well as for
the individuals who relate to them or work with them.
On a historical note, individuals with developmental
disabilities, particularly on the more severe end of the
spectrum, were formerly placed in state residential institutions where they received basic shelter and care, but
very little in the way of individualized services or comprehensive medical care. This was referred to as congregate care. By the last quarter of the 20th century,
however, the pendulum of public opinion had shifted
away from institutionalization and toward a communitybased environment, where people with disabilities could
receive educational interventions, therapeutic services,
and good medical care while living at home with their
parents or in small community-based supportive homes.
The improvements in medical care have led to a significantly increased life expectancy, and improved quality
of life overall for individuals with intellectual disability
(Braddock et al, 2004).
672
REFERENCES
American Association on Mental Retardation: Mental Retardation:
Definition, Classification, and Systems of Supports. Washington,
DC, American Association on Mental Retardation, 1992.
Braddock D,
Hemp R, Rizzolo MC: State of the states in developmental disabilities. Ment Retard 42:356-370, 2004.
Callanan CR: Since Owen: A Parent-to-Parent Guide for Care of the
Disabled Child. Baltimore, Johns Hopkins University Press, 1990.
Committee on Children with Disabilities: The role of the pediatrician
in transitioning children and adolescents with developmental disabilities and chronic illnesses from school to work or college. Pediatrics 106:854-858, 2000.
Committee on Children with Disabilities: Identifying infants and
young children with developmental disorders in the medical home:
An algorithm for developmental surveillance and screening. Pediatrics 118:305-420, 2006.
Crocker AC: The causes of mental retardation. Pediatr Ann 18:623,
1989.
Crocker AC: Data collection for the evaluation of mental retardation prevention activities: The fateful forty-three. Ment Retard 30:303, 1992.
Crocker AC: Prevention of disability. In Wallace HM, Nelson RP,
Sweeney PJ (eds): Maternal and Child Health Practices, 4th ed.
Oakland, CA, Third Party Publishing Co, 1994, pp 705-710.
Crocker AC: The impact of disabling conditions. In Wallace HM,
Biehl RF, MacQueen JC, Blackman JA (eds): Mosbys Resource
Guide to Children with Disabilities and Chronic Illness. St. Louis,
MosbyYear Book, 1997, pp 22-29.
Dekker MC, Koot HM: DSM-IV disorders in children with borderline
to moderate intellectual disability, I: Prevalence and impact. J Am
Acad Child Adolesc Psychiatry 42:915-922, 2003.
Dybwad G, Bersani H (eds): New Voices: Self-Advocacy by People
with Disabilities. Cambridge, MA, Brookline Books, 1996.
Elias ER, Irons MB, Hurley AD, et al: Clinical effects of cholesterol
supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 68:305-310, 1997.
Featherstone H: A Difference in the Family: Life with a Disabled
Child. New York, Basic Books, 1980.
Kiernan WE: Vocational rehabilitation. In Levine MD, Carey WB,
Croaker AC (eds): Developmental-Behavioral Pediatrics, 2nd ed.
Philadelphia, WB Saunders, 1992, pp 734-736.
Lightburn A, Pine BA: Supporting and enhancing the adoption of
children with developmental disabilities. Children Youth Serv Rev
18:139, 1996.
Luckasson RA, Schaleck RL, Snell ME, et al; American Association on
Intellectual and Developmental Disabilities: Mental Retardation:
Definition, Classification, and Systems of Supports Manual. 2002.
673
69
676
Table 69-1. Diagnostic Features of Autism and Nonautistic Pervasive Developmental Disorders
Childhood
Disintegrative
Disorders
Pervasive
Developmental
DisorderNOS
>24
M>F
Marked
Very poor
Variable
M>F
Usually not
Variable
Fair
Marked (facts)
5-30
F >> M
Marked
Varies with
age
Very poor
NA
Very poor
NA
Poor to good
Variable
Frequent
Not usually
No
Unknown
Uncommon
No
Mild ID to
normal
Fair to good
Frequent
Yes
Severe ID
Common
No
Severe ID
Uncommon
No
Severe ID to normal
Very poor
Very poor
Fair to good
Feature
Autistic
Disorder
Asperger
Disorder
Rett
Disorder
0-36
M>F
Variable
Very poor
Usually >36
M>F
Usually not
Poor
Communication skills
Circumscribed interests
Usually poor
Variable
(mechanical)
Sometimes
Common
No
Severe ID to
normal
Poor to good
Family history of
similar problems
Seizure disorder
Head growth slows
IQ range
Outcome
ID, intellectual disability; NA, not applicable; NOS, not otherwise specified.
Adapted from Volkmar FR, Cohen D: Nonautistic pervasive developmental disorders. In Michaels R, Cooper AM, Guze SB, et al (eds): Psychiatry. Philadelphia,
Lippincott-Raven, p 4.
DEFINITIONS
The definition of autism has evolved over time. Presently, the American (DSM-IV) (American Psychiatric
Association, 2000) and international (ICD) approaches
to diagnosis of autism are the same. Social factors are
weighted more heavily than communicative or behavioral features because they are more strongly predictive
of diagnosis. The current diagnostic approach works
reasonably with two important exceptions (Volkmar
and Klin, 2005). Since the time this approach was originally proposed (Volkmar et al, 1994), there has been
a major effort to diagnose autism in the first year or
two of life, although it is clear that some children do
not exhibit all features of autism until around age 3.
Also, the issue of possible overlap of autism and Asperger syndrome remains a topic of debatewhether
Asperger syndrome is best viewed as high functioning
autism (Klin et al, 2005).
the other disorders in this group except for Rett syndrome, where male cases are only rarely seen.
Current approaches to the diagnosis of autism work
well around the world (Volkmar and Klin, 2005), but
treatment practices in relation to cultural and ethnic
differences have not received much attention (Ozonoff
et al, 2003). Within the United States, children living in
poverty may be less likely to be diagnosed with autism
(Mandell et al, 2006).
677
Table 69-3. Symptoms Differentiating Infants and Toddlers with Autism from Typical and Developmentally
Delayed Peers
First Year
Years Two
to Three
Social Interaction
Communication
Excessive mouthing
Aversion to social touch
Hand/finger mannerisms
Inappropriate object use
Repetitive interests/play
Unusual sensory behaviors
(hypersensitivity/hyposensitivity to
sounds, texture, taste, or visual
preoccupations)
Unusual attachment to objects (hard not
soft, the specific object is less important
than category of object)
Adapted from Chawarska K, Volkmar FR: Autism in infancy and early childhood. In Volkmar F, Klin A, Paul R, Cohen D (eds): Handbook of Autism
and Pervasive Developmental Disorders, 3rd ed. Hoboken, NJ, John Wiley, 2005, p 230.
Vignette
Autobiographical Statement of a 10-year-old Boy with
Asperger Disorder*
Developmental Change
In autism, the most classic presentation is typically
assumed to be between ages 3 and 5, although variability also is seen (Fig. 69-1) (Charman et al, 2005). Although infants are now being diagnosed with autism,
sometimes only some of the required diagnostic features
are present (e.g., motor mannerisms may not emerge until age 3) (Lord, 1995). Often by school age, increased
social interest has developed along with more sophisticated cognitive and communication skills (Loveland and
Tunali-Kotoski, 2005). In adolescence, some children
make gains, whereas others sometimes exhibit losses
(Shea and Mesibov, 2005). In Asperger syndrome and
PDD-NOS, outcome is probably better than in more
classic autism (Howlin, 2005). Poor outcome is characteristic of CDD and Rett syndrome.
Neurobiology
Genetics
Autism is a strongly genetic disorder. The risk for parents who have had one child with autism for having a
second is 2% to 10%. Monozygotic twins have substantially increased concordance for autism (around 90%),
120
100
Number of Cases
678
80
60
40
20
0
6
12
18 24 30 36 42 48
Reported Onset (months)
54
60
40
679
35
30
25
20
15
10
5
0
3
36
7 10 11 14 15 18
Age (in years)
19
Figure 69-3. Visual focus of an autistic man (black line) and a normal comparison subject (white line) shown in a film clip of a conversation. (From Klin A, Jones W, Schultz R, et al: Defining and quantifying
the social phenotype in autism. Am J Psychiatry 159:895-908, 2002.)
680
681
Uses
Adverse Effects/
Comments
Atypical
neuroleptics
(
Risperidone*)
Agitation, aggression,
stereotyped
movements
Sedation,
weight gain
Traditional
neuroleptics
(
Haloperidol*)
Stereotyped
mannerisms
Sedation,
extrapyramidal
symptoms,
tardive dyskinesia
Stimulants
(
Methylphenidate*)
Hyperactivity/
inattention
(in about 50%
of cases)
Many children
unable to tolerate
owing to agitation
and increased
stereotyped
movements
SSRIs
(Fluoxetine
*)
Repetitive behaviors/
mood and anxiety
problems
Agitation,
behavioral
deterioration
*Randomized,
Figure 69-4. Drawing made by a boy with Asperger syndrome, illustrating his interest in time. The drawing illustrates the history of the
universe from the moment of its creation (12:00 midnight) through
geologic time (e.g., the appearance of bacteria) (6:30 a.m.). It illustrates the patients interest (and knowledge) regarding this topic,
which tended to be all-encompassing, and his less-developed fine motor abilities. (From Volkmar F, Klin A, Schultz R, et al: Aspergers disorder: Clinical case conference. Am J Psychiatry 157:262-267, 2000.)
Drug Treatments
Pharmacologic interventions that address the core
social-communication problems have not yet been developed. There are effective treatments, however, for
the problem behaviors (agitation, stereotyped movements) that often interfere with learning (Scahill and
Martin, 2005). In the last several years, a series of welldesigned, placebo-controlled studies have appeared
(McCracken et al, 2002). As with any drug treatment,
the risk-benefit ratio should be considered as part of the
process of obtaining informed consent. Depending on
the agent chosen, baseline laboratory studies (tests of
liver and renal function, electrocardiogram, urinalysis,
blood count, weight, blood pressure) may be indicated,
and periodic examination for abnormal movements
may be performed (this is particularly important for the
682
Alternative/Complementary Treatments
Nonestablished treatments are used by many parents
particularly of younger children. Given the important
role of the primary health care provider, it is essential that parents be able to discuss such treatments in
a frank, open, nonhostile manner. The quality of the
evidence used to justify such treatments and potential
risks and benefits can be discussed. Parents should be
encouraged to pursue traditional treatments with demonstrated benefitspursuit of nontraditional treatments
should not come at the price of loss of treatments with
established potential benefits (Hyman and Levy, 2005;
Volkmar and Wiesner, 2004). Although limited in number, a few objective resources are available to physicians
(Jacobson et al, 2005).
Media attention is easily directed to dramatic claims
and may understandably arouse high levels of parental
interest. In a few instances (e.g., the more recent doubleblind studies of the gut hormone secretin), it was clear
that there was no significant improvement overall compared with placebo (Unis et al, 2002). The robust placebo
response rate in such studies underscores the importance
of controlled research. Occasionally, treatments are proposed that pose danger to the child (e.g., nutritional deficiencies have been observed with restrictive diets) (Arnold
et al, 2003). More commonly, the danger is of removing
children from programs with proven effectiveness.
683
Comment
Information on sensitivity
and specificity needed
Instrument/Developer
Format
Requires training in
administration and
score, 24-36 mo
Applicable over wide
age range (not just
preschool)
Requires some training,
can be used with
preschool children
Area of Difficulty
Possible Solutions
Marked social
difficulties
Challenges for provision of high-quality care in this population arise as a result of problems in social interaction and
communication and limited tolerance for change. Other
problems are posed by the more general problems individuals with disabilities have in obtaining quality health
care. As noted elsewhere, the nonverbal childs illness
may manifest as behavior change (Volkmar et al, 2006).
Table 69-7 lists obstacles to providing health care. It is
important to emphasize the central importance of regular
pediatric care, including well-child visits (to help the child
accommodate to the office setting), preventive care (including dental care), and concern by the pediatrician with
advocacy and provision of appropriate information. Accidents are the leading cause of death in this population,
and safety considerations should be paramount for parents
of younger children; as children become older, help with
behavior problems and then emerging sexuality becomes
more important (Volkmar and Wiesner, 2004). Information for parents and health care providers is increasingly
available (Batshaw, 2002; Exkorn, 2005; Powers, 2000).
Problems with
communication
Difficulties with
novelty
Difficulties with
organization/
attention
Adapted from Volkmar FR, Wiesner LA, Westphal A: Healthcare issues for
children on the autism spectrum. Curr Opin Psychiatry 19:361-366, 2006.
REFERENCES
Considerable progress has been made over the last decade in understanding autism and related disorders.
Advances in neurobiology and genetics have increased
understanding of the fundamental basis of the disability.
Earlier diagnosis and intervention have reduced the negative impact that autism can have on development. The
core features of these conditions pose important obstacles for provision of high-quality health care. Physicians
Amaral DG, Bauman MD, et al: The amygdala and autism: Implications from non-human primate studies. Genes Brain Behav 2:295302, 2003.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed, rev ed. Washington, DC, American
Psychiatric Association, 2000.
Amir RE, Van den Veyver IB, Wan M, et al: Rett syndrome is caused
by mutations in X-linked MeCP2, encoding methyl-CpG-binding
protein 2. Nat Genet 23:185-188, 1990.
684
Hultman CM, Sparen P: Autismprenatal insults or an epiphenomenon of a strongly genetic disorder? Lancet 364:485-487, 2004.
Hyman SL, Levy SE: Introduction: Novel therapies in developmental
disabilitieshope, reason, and evidence. Ment Retard Dev Disabil
Res Rev 11:107-109, 2005.
Jacobson JW, Foxx RM, et al (eds): Controversial Therapies for Developmental Disabilities: Fad, Fashion and Science in Professional
Practice. Mahwah, NJ, Lawrence Erlbaum Associates, 2005.
Kanner L: Autistic disturbances of affective contact. Nervous Child
2:217-250, 1943.
Kanner L: Follow-up study of eleven autistic children originally reported in 1943. J Autism Child Schizophr 1:119-145, 1971.
Klin A: Defining and quantifying the social phenotype in autism: Reply. Am J Psychiatry 161:933-934, 2004.
Klin A, Jones W, et al: The enactive mind, or from actions to cognition: Lessons from autism. Philos Trans Roy Soc Lond Series B
Biol Sci 358:345-360, 2003.
Klin A, McPartland J, et al: Asperger syndrome. In Volkmar F, Klin A,
Paul R, Cohen D (eds): Handbook of Autism and Pervasive Developmental Disorders, 3rd ed. Hoboken, NJ, John Wiley, 2005, pp 88-125.
Klin A, Saulnier C, et al: Clinical evaluation in autism spectrum disorders: Psychological Assessment within a transdisciplinary framework. In Volkmar F, Klin A, Paul R, Cohen D (eds): Handbook of
Autism and Pervasive Developmental Disorders, 3rd ed. Hoboken,
NJ, John Wiley, 2005, pp 772-798.
Lord C: Follow-up of two-year-olds referred for possible autism.
J Child Psychol Psychiatry 36:1365-1382, 1995.
Loveland KA, Tunali-Kotoski B: The school-age child with an autistic
spectrum disorder. In Volkmar F, Klin A, Paul R, Cohen D (eds):
Handbook of Autism and Pervasive Developmental Disorders,
3rd ed. Hoboken, NJ, John Wiley, 2005, pp 247-287.
Mandell DS, Ittenbach RR, et al: Disparities in diagnoses received prior
to a diagnosis of autism spectrum disorder. J Autism Dev Disord
37:1795-1802, 2007.
McCracken JT, McGough J, et al: Risperidone in children with autism
and serious behavioral problems.[see comment]. N Engl J Med
347:314-321, 2002.
Minshew NJ, Sweeney JA, et al: Neurologic aspects of autism. In
Volkmar F, Klin A, Paul R, Cohen D (eds): Handbook of Autism and Pervasive Developmental Disorders, 3rd ed. Hoboken,
NJ, John Wiley, 2005, pp 453-472.
Moeschler JB, Shevell M, et al: Clinical genetic evaluation of the
child with mental retardation or developmental delays. Pediatrics
117:2304-2316, 2006.
National Research Council: Educating Young Children with Autism.
Washington, DC, National Academy Press, 2001.
Ozonoff S, Rogers SJ, et al (eds): Autism Spectrum Disorders: A Research Review for Practitioners. Washington, DC, American Psychiatric Publishing, 2003.
Paul R: Promoting social communication in high functioning individuals with autistic spectrum disorders. Child Adolesc Psychiatr Clin
North Am 12:87-106, vi-vii, 2003.
Paul R, Sutherland D: Enhancing early language in children with autism spectrum disorders. In Volkmar F, Klin A, Paul R, Cohen D
(eds): Handbook of Autism and Pervasive Developmental Disorders, 3rd ed. Hoboken, NJ, John Wiley, 2005, pp 946-976.
Powers MD (ed): Children with Autism: A Parents Guide, 2nd ed.
Bethesda, MD, Woodbine House, 2000.
Prior M, Ozonoff S: Psychological factors in autism. In Volkmar FR
(ed): Autism and Pervasive Developmental Disorders. Cambridge,
Cambridge University Press, 1998, pp 64-108.
Rett A: Uber ein eigenartiges hirntophisces Syndrome bei hyperammonie im Kindersalter. Wein Med Wochenschr 118:723-726, 1966.
Rogers SJ: Developmental regression in autism spectrum disorders.
Ment Retard Dev Disabil Res Rev 10:139-143, 2004.
Rourke BP: The syndrome of nonverbal learning disabilities: Developmental manifestations in neurological disease, disorder, and dysfunction. Clin Neuropsychol 2:293-330, 1988.
685
70
HEARING IMPAIRMENT
Desmond P. Kelly
TERMINOLOGY
Although the term hearing impairment covers the range
from mild to profound hearing loss, the designation
deaf is generally reserved for children whose hearing
loss is in the severe to profound range, and who can at
best hear only a few prosodic and phonetic elements of
speech. Children who are hard of hearing, with hearing loss below the severe range, can at least partially
understand spoken language. Sounds consist of complex
combinations of pure tones that vary in frequency or
pitch (measured in Hertz) and intensity or loudness
(measured in decibels). Hearing is commonly measured
by pure tone audiometers, and the results of hearing
tests are graphically represented by means of pure tone
audiograms. Typical conversational speech occurs in the
range of 30 to 50 dB. The loudness and pitch of common
sounds and the functional impact of varying degrees of
hearing loss are illustrated in Figure 70-1.
Classification systems are usually based on the average
hearing threshold in decibels for pure tones presented at
500 Hz, 1000 Hz, and 2000 Hz. The range for normal
hearing is 0 to 15 dB. Although the threshold for classification as hearing impaired has generally been defined as
25 dB, most experts agree that any hearing loss greater
than 15 dB in an infant or young child could impede
speech perception and language development. Degrees
of hearing loss can be categorized as follows (American
Speech Language and Hearing Association, 2006):
Hearing loss is traditionally subtyped as either conductive or sensorineural, but frequently there is a combination of these components, or mixed hearing loss.
EPIDEMIOLOGY
Although profound hearing loss is rare, milder degrees
of hearing impairment, particularly conductive hearing
loss secondary to otitis media with effusion, are common.
Estimates of the prevalence of hearing impairment are
beset by inconsistencies in classification and reporting,
and vary in different regions of the world. In the United
States and England, the estimated incidence of deafness at birth (sensorineural hearing loss >35 to 40 dB)
is 1.3 to 1.8 per 1000 children. The prevalence of permanent sensorineural hearing loss increases to 2.7 per
1000 by 5 years of age and 3.5 per 1000 in adolescence (Morton and Nance, 2006). Five to 10 times as
many children experience lesser degrees of impairment
(Brookhouser, 1996). In underdeveloped countries,
sensorineural hearing loss is almost twice as common,
with greater risk of suppurative complications of otitis.
Although preventive techniques, such as immunizations
against rubella and Haemophilus influenzae type B,
and improved antibiotic and surgical interventions
687
688
Sound
Perception
125
-10
Hearing
threshold
250
500
1000
2000
4000
-10
10
10
20
20
30
Conversational
speech
Loud shout
Discomfort
LOUDNESS (dB)
Whisper
Functional Impact
of Hearing Loss
8000
30
40
40
50
50
60
60
70
70
80
80
90
90
-100
-100
110
110
120
120
FREQUENCY (Hz)
125
Hears conversation
as a whisper
250
500
1000
2000
4000
Laryngeal
Consonants
tones
m, n, g
s, f,
Vowels
oo
ay ee
Hears shout
as a whisper
Cannot
discriminate
any speech
sounds
8000
th
Whistle
Figure 70-1. Audiometric characteristics of speech sounds and functional impact of hearing loss. Audiograms A and C reflect mild and
moderate-to-severe hearing loss. Note the greater deficits in the higher frequency ranges that particularly affect appreciation of consonants.
Audiogram B, mild conductive loss, is notable for greater involvement at lower frequencies. (Adapted from data in Ballantyne J, Martin JAM:
Deafness, 4th ed. New York, Churchill Livingstone, 1984.)
ETIOLOGY
Genetic
Deafness can be inherited as an autosomally dominant
or recessive, or X-linked, condition, and can be an isolated trait or constitute one component of a recognizable
syndrome. More than 300 forms of hearing loss related
to syndromes with distinctive clinical features have been
described. Pendred syndrome is the most common.
Table 70-1 describes the more prevalent forms and their
clinical features. Most cases of genetic hearing loss are
nonsyndromic, however.
Molecular genetic testing has enabled identification
of more than 100 chromosomal loci and 65 genes as
sociated with nonsyndromic hearing impairment (Morton and Nance, 2006). Autosomal recessive patterns of
inheritance account for 70% to 80% of cases. Mutations
in the gap junction proteins beta 2 and beta 6 (GJB2
and GJB6) are known to cause hearing impairment, with
a mutation of GJB2, which encodes the Connexin protein
26 (one of the primary proteins involved in potassium
Acquired
Prenatal causes of hearing impairment include maternal
infections, such as toxoplasmosis, rubella, cytomegalovirus, and herpes simplex, and exposure to toxins, such as
alcohol, trimethadione, and mercury (Roizen, 1999). Of
these causes, cytomegalovirus is the most frequently identified. The most common perinatal cause of hearing loss
is extreme prematurity with its associated risks, including
hypoxia, acidosis, hypoglycemia, high levels of ambient
689
Inheritance
Relative Frequency*
Clinical Features
Alport syndrome
XL or AR
1%
Brachio-oto-renal
syndrome
Fabry disease
AD
2%
XL
1/40,000
AR
0.5%
AR
4-10%
Treacher Collins
syndrome
Usher syndrome
AD
1%
AR
4-6%
Waardenburg
syndrome (type 1)
AD
1-4%
*Relative
68
3
14
21
30
32
21
10
11
11
690
Language
In children who are profoundly deaf, the primary
impact is not merely that they are unable to hear
sounds, but that their ability to develop spoken language is impeded (Kennedy et al, 2006). Children who
are prelingually deaf are deprived of auditory memories, images, and associations. Not only are they unable
to communicate their thoughts and needs or readily
acquire information verbally, but also inner language
development, including the ability to translate experience into verbally mediated thoughts and memories,
is impeded. The role of standard language in thought
processes and intelligence has not been clearly established. Studies of deaf children show that they place
greater reliance than hearing children on visuospatial
short-term memory than on temporal-sequential coding (Marschark, 1993).
It is known that infants can recognize their mothers
voice from birth, and much of early parent-child interaction involves soothing talk and vocal interactions. It is a
marvel to realize that by 4 years of age the average child
has a complete grasp and knowledge of his or her native
language that has been assimilated without the aid of
any formal teaching. A child with profound deafness is
at a great disadvantage without appropriate efforts to
foster communication. Children whose hearing loss is
identified early (especially infants <6 months old) have
been shown to have significantly higher language developmental quotients than children identified at a later
age (Yoshinaga-Itano, 2003).
Cognitive Development
Determination of the intellectual abilities of children
who are deaf can prove elusive. Most of the cognitive
assessment instruments in common use are based on the
ability to read a standard language, and comparison of
verbal intelligence scores is not practical. On the nonverbal, or performance, sections of tests, children who
are deaf generally fall within the normal range of intelligence, but score consistently below hearing agemates (Marschark, 1993). Expression of many abstract
concepts depends on a system of symbolic language that
a child with deafness might not have had the opportunity to develop.
Although expert opinions have varied over the years,
it is now agreed that deafness per se does not impart
limitations to intelligence (Vernon, 2005). Children
who are deaf show qualitative differences, however, in
the interrelations among their abilities. In particular,
they are likely to be less competent in language abilities
and cognitive flexibility. Lack of auditory input also has
been associated with lower (but not pathologic) scores
in visuospatial praxis tasks and sustained attention
(Schlumberger et al, 2004). Measured levels of academic
achievement are generally lower for deaf school-age
children. Early schooling for children with deafness
concentrates heavily on development of communication
skills, leaving less time for instruction in other areas.
Leaders in deaf education also have voiced concern that
goals and expectations for students with deafness are
unnecessarily low. In reading comprehension, the mean
grade equivalent for 18-year-old students with deafness
in special educational settings has been reported to be at
the fourth-grade level, with math at the seventh-grade
level. There also is the risk that some children with deafness have difficulty with balance, equilibrium, and other
motor skills reflecting associated vestibular dysfunction
(Rapin, 1993).
In contrast, research has suggested the development
of compensatory skills in children deprived of hearing.
Some studies indicate more efficient visual processing
abilities. By use of brain electric activity mapping techniques, investigators have shown differences in cortical
organization between deaf and hearing children, with
the former generally showing compensatory changes in
the right hemisphere and visual processing areas (Wolff
and Thatcher, 1990).
Prevalence (%)*
Visual impairment
Developmental delay
Autism
Orthopedic impairment
Learning disability
Attention-deficit/hyperactivity
disorder
Intellectual disability
Emotional disturbance
Other health impairment
Other conditions
4.6
1.8
1
3.7
9.2
6.3
8.2
1.9
1
6.9
*Prevalence
Associated Challenges
The percentage of hearing-impaired school-age children with educationally significant associated disabilities is considerably higher than that for the general
population. The Annual Survey of Deaf and Hard of
Hearing Children and Youth continues to report such
difficulties in 43% of deaf children, with many of these
problems being related to the same factor that caused
the deafness (Table 70-3) (Gallaudet Research Institute, 2005). The term multiply-handicapped hearingimpaired children has evolved to describe this group.
Additional conditions include visual problems, epilepsy, cerebral palsy, intellectual disability, and specific
learning disabilities.
It is important to evaluate each child fully and to be
aware of conditions that might have an impact on development and performance. A child with deafness and
associated visual-perceptual deficits might have great
difficulty processing sign language and speech reading.
Such a child might be incorrectly classified as cognitively impaired. Although there has been a paucity of
research regarding attention deficits in children who are
deaf, a child who is reliant on visual input for learning and communication would be at double jeopardy
for learning problems if he or she had attention weaknesses. Studies at a residential school for children who
are deaf, using parent and teacher questionnaire ratings,
have suggested that although the overall prevalence of
attention deficits in children who are deaf is not higher
691
EVALUATION
Screening
The health professional must maintain an index of suspicion regarding hearing loss in infants and young children. Careful consideration of risk factors coupled with
astute observation and attention to parental concerns is
the key to successful early diagnosis. With the advent
of universal newborn hearing screening, the average age
at which hearing loss is diagnosed has decreased from
30 months to 2 to 3 months (Morton and Nance, 2006).
In its Year 2000 Position Statement, the Joint Committee on Infant Hearing (2000) endorsed early detection of,
and intervention for, infants with hearing loss through
integrated interdisciplinary state and national systems
of universal newborn hearing screening. More than
40 states have adopted legislation mandating universal
screening of newborns for hearing loss, and 5 states have
achieved universal screening without legislation.
It also is recommended that all infants who have
risk indicators for delayed onset or progressive hearing
loss should have regular assessment of hearing every
6 months until age 3 years. The Centers for Disease
Control and Prevention Early Hearing Detection and
Intervention (EHDI) program has set 1-3-6 goals
hearing screening before 1 month of age, diagnostic
audiologic evaluation for children with hearing loss
before 3 months of age, and early intervention for these
children before 6 months of age (Dorros et al, 2007).
The use of a high-risk register was previously
promoted to identify children at most significant risk
for hearing loss who should have evaluation of hearing and close follow-up. The factors originally recommended by the Joint Committee on Infant Hearing in
1990 and revised in 1994 and 2000 position statements
are listed in Table 70-4, and include factors related to
family history, prematurity, low birth weight, infections, trauma, or the diagnosis of a neurodegenerative
disorder. Because only 50% of infants or young children with profound hearing loss manifest one of these
risk factors, the clinician should still have a low threshold for ordering a full audiologic examination in any
child with language delays, regardless of the results of
newborn screening or the presence of risk factors. In all
situations, the health professional must initiate further
testing if there is any degree of parental concern, or any
suspicion of hearing loss.
692
Evaluation of Hearing
With appropriate equipment and professional expertise, reliable assessments of hearing can be performed
on children of any age. Antenatal diagnosis of hearing
loss in high-risk pregnancies is becoming an accepted
procedure.
In infants younger than 6 months of age, objective
measurement of hearing abilities by means of auditory
brainstem response testing is preferred. This procedure
makes use of surface recording electrodes and microcomputer averaging and enhancement of signals to extract the responses of the brainstem to sound. Potentials
evoked by up to 2000 separate auditory stimuli are
stored and averaged to produce one waveform, which
is analyzed for its overall morphology. This waveform contains seven peaks, of which three are analyzed
closely for latency and amplitude characteristics. One
of the most significant benefits of this test is that it does
not rely on the cooperation of the patient. There are
pitfalls, however, including subjectivity involved in interpretation of the waveforms, and the fact that other
conditions affecting the brainstem might result in abnormal waveforms. Conversely, because responses are
being measured below the level of the auditory cortex,
Medical Evaluation
If hearing loss has been confirmed, the medical evaluation should be directed toward establishing a cause and
ruling out any associated health problems that could
impede communication further or have long-term health
implications. Evidence of a potentially correctable condition such as middle ear dysfunction warrants consultation with an experienced otolaryngologist to elucidate
potential benefits of surgical intervention. Determination of etiology has important implications with regard
to genetic counseling and prognostication regarding
potential outcomes or associated physical problems.
Routine evaluation should include close attention to
vision status, given the vital importance of this sensory
Special Investigations
Computed tomography of the temporal bone or magnetic
resonance imaging can reveal Mondini dysplasia (an incomplete number of turns in the cochlea), which is seen
in Pendred syndrome, or other structural anomalies of
the inner ear, such as fistulae, which would have management implications. Genetic testing has become a crucial
component of the medical workup, with two thirds of
cases of deafness likely related to genetic causes, and new
gene mutations associated with hearing loss being discovered at a rapid rate. Diagnostic microarray panels are
now available that can test for 200 mutations in multiple
genes associated with hearing loss (Gardner et al, 2006).
Developmental Assessment
Formal assessment of cognitive, language, and social
abilities should be carried out by professionals who
have experience in testing children with hearing impairment. Tests of cognition include the Hiskey-Nebraska
Test of Learning Aptitude (specifically developed for
children with hearing impairment), the performance
scales of the Wechsler Intelligence ScalesFourth Edition
(WISC-IV), the Leiter International Performance Scale,
and the Kaufman Assessment Battery for Children.
Visuomotor tasks, including the Bender-Gestalt and
Developmental Test of Visual Motor Integration, also
are used frequently. Projective techniques can be helpful
(if not entirely reliable) in assessing emotional status,
in addition to use of instruments such as the Meadow/
Kendall Social-Emotional Assessment Inventory for
Deaf Children (Meadow, 1980).
693
Vignette
Mary was born at term without apparent medical
complications before the advent of universal newborn
hearing screening. She had frequent episodes of
otitis media during the first year of life. Her parents
are medical professionals. At 15 months of age, she
was not using any single words, and her parents
had concerns about her response to environmental
sounds. Behavioral audiometry indicated hearing loss,
and auditory brainstem response testing at the time
of myringotomy and insertion of ventilation tubes
indicated severe hearing loss in one ear and profound
loss in the other.
Mary was fitted with hearing aids and an FM system,
and was enrolled in an intensive program of speech and
language therapy, including the use of sign language.
Her parents decided at an early stage to promote oral
communication as much as possible. After initial gains
in language skills (using a limited 1-word vocabulary
consistently), there was regression in communication
abilities. Repeated testing indicated progression of the
hearing loss to a profound degree bilaterally. Marys
parents had her evaluated at numerous medical centers,
and she was deemed eligible for cochlear implantation.
At surgery, there was evidence of new bone formation
in the cochlea, suggesting an infectious etiology for the
deafness, probably bacterial meningitis (although there
had been no recognized symptoms of such an illness).
Immediately after the implant, Mary showed
improved perception of environmental sounds.
Language skills progressed slowly initially. Evaluation
at another center indicated a need for remapping of
the processor. Mary has since made steady gains. She
receives individual and group speech and language
therapy and separate weekly sessions of auditory-verbal
training. She has attended regular preschool classes
and is currently functioning well in a prekindergarten
educational program at a private school. Two years
after receiving the implant, her expressive language has
advanced to 2- to 4-word combinations. Receptively,
she is able to identify two-key verbal elements, such
as red book, without any visual cues. Her cognitive
abilities have been measured to be in the average range,
and she increasingly enjoys academic activities. There
are mild behavioral challenges with limit-testing and
occasional noncompliance. She enjoys social interaction.
Marys history highlights many key issues, including
the challenge of early diagnosis, the risks of progressive
hearing loss, multiple modalities of treatment, and the
large commitment of energy and resources by parents
seeking an optimal outcome for their child.
MANAGEMENT
Optimal outcome for a child with hearing impairment
is facilitated by attention to all areas of functioning
(Fig. 70-2).
Prevention
Preventive efforts are crucial, including rubella immunization and other measures to decrease the risk of
prenatal infections and minimize the other risk factors
694
Family
Perinatal
infections
Medications
Congenital
anomalies
(craniofacial)
Medical Support
Comprehensive Assessment
Primary Care
Thoughtful etiologic work-up
Assess for associated conditions
Routine health care to minimize
impact of recurrent health problems
(e.g., otitis media)
Anticipatory guidance
Audiology
Behavioral Audiometry
Brainstem Auditory Evoked Response
Communication/Language
Cognitive
Motor (Vestibular Function)
Specialty Care
Otolaryngology
Ophthalmology
Genetics
Advocacy
Remediation
Child
Parents
Family
Community
Hearing aids
Assistive devices
Amplified telephones
Telecommunication devices for deaf (TDD)
Closed captioning TV
Environmental modifications
(e.g., smoke alarms)
Cochlear implant
Education
Early intervention
Language communication
Mainstream with assistance
Classroom
Self-contained
Residential school
Vocational training
Figure 70-2. Steps to optimal outcome for a hearing-impaired child. An integrated multimodal approach to management aids adaptation
and achievement of full potential.
loss enable more accurate genetic counseling for parents who already have a child with hearing impairment
or who have members of their extended families with
deafness.
Medical Management
Routine health screening and prompt treatment interventions should be coupled with focused anticipatory
guidance. The primary care physician is in a unique
position to interpret findings of other specialists during
the diagnostic process and to function as care coordinator
(Dorros et al, 2007). Steps should include prompt referral
to the local early intervention entity; referral for otolaryngology and ophthalmology examinations; medical clearance for hearing aids or cochlear implants if chosen by the
family; and other medical referrals as indicated, including
genetics, neurology, and developmental-behavioral pediatrics. Other medical management interventions include
surgery by an otolaryngologist or continued ophthalmologic follow-up. The physician should ensure that there
are no delays in having a child who is deaf fitted with
hearing aids; the physician can consult with an audiologist in this regard.
Cochlear Implants
Cochlear implants can provide useful hearing to many
children with profound hearing loss. This treatment modality has received much attention and evoked considerable debate in recent years and is being performed with
increasing frequency. The device consists of an internal
component that is surgically implanted and an external
component that is worn by the child. Sounds are received
with mastering skills such as toilet training. The physician also might be called on to advise regarding treat
ment of more significant neurobehavioral problems,
such as attention deficits. Although controlled studies
are lacking, it seems that medications such as stimulants
have a similar spectrum of activity and efficacy in
children with hearing impairment.
Developmental Interventions
Three factors have been described that have central
implications for optimal development of children who
are deaf and should be incorporated into management
plans (Marschark, 1993). Early language experiences,
particularly linguistic interaction with parents from an
early age, are critical. These interactions result in gain of
facts, cognitive strategies, and social skills, and knowledge of self and a sense of being part of the world. The
second factor is diversity of experience that shapes basic perceptual, learning, and memory processes. Active
exploration of the environment and experience with
people promotes problem-solving skills and flexibility.
Social interaction is the third essential element. In addition to the cognitive functions of social interactions,
these relationships help to develop bases for exploration
and provide emotional support. Self-esteem, motivation,
and moral development are promoted.
Early intervention should focus on development
of communication skills for the child and the parents. Options include American Sign Language (ASL),
auditory-oral, auditory-verbal, cued speech, and total
communication. Opinions have differed among the deaf
community and educators regarding the most appropriate instructional methods. The first efforts at deaf education by French monks in the late 1700s expanded on
the native forms of sign language already being used
by individuals with deafness. The concept of oralism
subsequently came to the fore in the United States. This
approach uses lip reading and vocal expression rather
than manual signs and was advocated as offering the
best opportunity for integration of children who are
deaf into society. Acquisition of understandable speech
proves an almost insurmountable task, however, for
children with profound prelingual deafness without
treatment such as a cochlear implant.
In contrast, proponents of manual communication point out that children who are deaf may develop
a broader appreciation for language much earlier
through the use of signs and can more easily communi
cate with other individuals with deafness with whom
they might share a common identity (Ziring, 1983) or
with hearing individuals who have signing skills. Total
communication, which combines speech reading, manual communication, and oral expression, has emerged
as a compromise and is the predominant approach currently used in deaf education. There also is considerable
disagreement regarding sign language, however. There is
no universal sign language, with each country having its
own adaptations and forms of sign. In the United States,
ASL is a unique form of communication and a complete
language system of its own that is used by many members of the deaf community as an alternative to Signed
English or other manual communication such as finger
695
Education
The passage of Public Law 94-142, the Education for
All Handicapped Children Act, since reauthorized as the
Individuals with Disabilities Education Act (IDEA), has
had a significant impact on deaf education. Free public
education for all students who are deaf has broadened
the available services and opportunities. Part H of this
legislation mandates services from infancy, or the time
of diagnosis. Families are entitled to assistance from a
multidisciplinary team of professionals who can determine eligibility for services and work with the family to
develop an individualized family service plan. Ideally,
this team should consist of a physician with expertise
in otologic disorders, an audiologist, a speech-language
pathologist, and an educator. Primary care physicians
should consult and collaborate with this team in the
development of treatment and education plans.
As children approach school age, parents encounter
differences of opinion among professionals regarding
whether special school programs or mainstreaming in
regular school programs provides the better educational
environment. Residential schools for children who are
deaf have been the traditional means of providing education for children who have profound hearing impairment
and usually number teachers who are deaf among their
faculty. With interpreters and other increased services
for students who are deaf provided by public schools,
and the mandate for education in the least restrictive
environment, has come an increasing emphasis on mainstreaming of students who are deaf. Most children with
hearing impairment receive their education in regular
school settings. This mainstreaming does carry the risk,
however, of social isolation inherent in being one of a
small number of students, or the only student, who are
deaf in a school or classroom.
The final decision regarding which educational setting is most appropriate for the individual child is influenced by many factors, including the resources and
qualifications of professional staff in the different potential settings, the philosophy of educational approaches,
goals of parents and educators, and the capability of
the family to invest fully in the supportive components.
Regardless of the setting, it is crucial that young children
with hearing impairments receive appropriate intensive
training in language development.
Increasing numbers of students who are deaf are
pursuing higher education. There is a wide variety of
postsecondary education programs for students who
are deaf, and more than 1000 colleges and universities in the United States report supportive programs,
including note-taking and interpreter services and
availability of telecommunication devices. Gallaudet
University in Washington, DC, and the National Technical Institute for the Deaf in Rochester, New York,
serve more than half of the students who are deaf now
in college.
696
Habilitation
Many resources are available for maximizing hearing
potential. Hearing aids consist of a microphone for converting acoustic energy into electric energy, an amplifier
powered by a battery, and a receiver or earphone for converting the amplified electrical energy back into acoustic energy and channeling this into the childs ear canal.
If there is absence of the ear canal, a bone conduction
oscillator is used. The four different types of hearing aids
include body-worn (with a flexible cord leading from the
microphone and amplifier to the button-sized receiver,
used mostly by younger children), behind-the-ear (with
all components contained in a small curved case), inthe-ear (with all components contained within a plastic
shell fitted into the outer ear), and eyeglass aids (with the
components built into the frame). The amount of sound
amplification (gain) and the frequency response of the aid
can be varied depending on the characteristics of the individuals hearing loss. Generally, higher frequencies are
amplified more. Free-field FM systems can be used in the
classroom setting as an effective means of amplification.
These operate similar to a miniature radio transmitter
with a unit worn by the teacher transmitting the speech to
a receiver worn by the student that amplifies and transfers
it to small earphones or the students own hearing aid.
Other assistive listening devices and systems include
telephone hand set amplifiers or hearing aidcompatible
telephones. Closed-caption television supervised by the
National Captioning Institute (established by Congress
in 1979) has significantly increased access to news and
entertainment. Alerting and warning assistive devices
include those that convert the ring of a telephone into
a low-pitched warble, strobe light, or flashing household lamp. Similar devices are available for doorbells,
wake-up alarms (including vibrotactile devices), smoke
detectors, and adverse weather warning systems.
New technologic developments in our digital world
have reshaped the landscape for individuals with hearing impairment and have replaced earlier adaptive
techniques such as telecommunication devices for individuals who are deaf. Electronic mail communication
has become more prevalent and has more recently been
superseded by text messaging by mobile telephones,
which currently seems to be the preferred method of
communication among teenagers and young adults. Participation in social networking sites on the Internet also
is not limited by hearing abilities. Caution is warranted
with supervision to ensure the safety of children who
are already more vulnerable because of the challenges
of their disability. As technology continues to advance,
hearing impaired individuals should have increasing access to social communication with prototypes on the
horizon including devices such as glasses with a receiver
and processor that translates spoken input into printed
representations of words, displayed on a screen across
the bottom of the lenses.
SUMMARY
Profound hearing loss is rare, but milder degrees of
hearing impairment are more common. All clinicians
who treat children encounter patients with hearing loss.
Greater than 50% of childhood hearing impairment is
due to genetic factors, and more than 20% is due to prenatal, perinatal, or postnatal environmental influences.
The outlook for children with hearing impairment
has improved dramatically over recent decades. Increased knowledge related to the genetic basis of hearing
loss has facilitated more accurate diagnosis and genetic
counseling. Efforts at primary prevention, such as immunizations against the infectious agents responsible for
meningitis, and counseling regarding the negative effects
of exposure to loud sounds can decrease further the incidence of acquired deafness. Hearing impairment poses
significant challenges for language development, socialemotional adjustment, and academic achievement.
There are very positive outcomes, however, related to
early identification and intervention for children with
hearing loss.
Cochlear implants have revolutionized the treatment
of hearing impairment in childhood. New technology
has broadened the opportunities for communication for
individuals with hearing impairment. Physicians have a
critical responsibility to be alert to early signs of hearing
problems, and to ensure that children with these problems have access to all the advances in management that
would enable them to be successful.
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71
Although considered a low-incidence neurologic disability in children and adolescents, blindness and visual
impairment comprise a range of ophthalmologic and
central nervous system (CNS) conditions that can result
in significant morbidity for and remarkable adaptations
by affected children and their families. Excluding the
much more ubiquitous conditions of strabismus and
amblyopia, the prevalence of significant visual impairment in developed countries is approximately 1 to 3 per
10,000 children (birth to 15 years old). The prevalence
of visual impairment in American children younger than
5 years old is 0.42 to 0.86 per 1000 (Kirchner, 1989).
In Asia (excluding Japan) and Africa, the prevalence is
approximately 6 to 15 per 10,000 children.
It is estimated that each year, about 500,000 children
worldwide, most of whom live in underdeveloped regions, become blind or severely visually impaired. Of
the latter, it is estimated that approximately 40% have
conditions that are considered preventable. These preventable conditions include nutritional problems (e.g.,
vitamin A deficiency), bacterial infections (e.g., trachoma), parasitic infestations (e.g., Toxoplasma), and
endemic infections (e.g., onchocerciasis or river blindness). Other contributing factors are poverty and limited access to health care (e.g., amblyopia secondary to
long-standing refractive errors or strabismus), and some
recessive genetic conditions that are more prevalent owing to higher rates of consanguinity in some cultures.
For children and adolescents in developed countries,
the epidemiology of blindness is quite different and primarily related to underlying CNS disorders affecting
vision, complications of prematurity after prolonged
neonatal intensive care unit courses, and congenital/
genetic disorders of the eye. In the United States, approxi
mately half of children with visual impairment have
genetic/heritable conditions. Among preschool children
in the United States, the most prevalent conditions are
(1) cortical visual impairment, (2) retinopathy of prematurity, and (3) optic nerve hypoplasia.
Congenital causes include many types of cataracts,
metabolic disorders (e.g., albinism, Hurler syndrome,
Tay-Sachs disease), retinal dystrophies (e.g., Leber congenital amaurosis, retinitis pigmentosa), and sequelae
of congenital infections. Other congenital abnormalities include malformations of the eye and related brain
structures (e.g., coloboma, micro-ophthalmia or anophthalmia, and optic nerve hypoplasia). These abnormalities may be an isolated condition or part of a complex of
698
other congenital abnormalities, as occurs in certain syndromes (e.g., CHARGE association) and chromosomal
disorders (e.g., trisomies 13, 18, and 21). Perinatally
timed causes of visual impairment include hypoxicischemic CNS injury and retinopathy of prematurity
(ROP).
As the technology and quality of intensive care for
premature infants in developed countries has improved
over the past 50 years, the risk of a premature infant
acquiring ROP has become limited primarily to infants
with birth weights less than 1000 g, particularly those
with other severe complications of prematurity and its
treatments. Yet, as noted, ROP continues to be one of
the top three causes of visual impairment in children.
Medical understanding of the pathogenesis of ROP is
still unfolding; more recent research has documented a
complex interaction between genetic predisposition, immature retinal vascular endothelium, oxygen exposure,
and regulation of neovascularization by local levels of
vascular endothelial growth factor (VEGF) at the junction of vascular-avascular retina. Surgical treatments
(retinal cryotherapy and laser) aimed at the neovascular pathology have been shown to decrease the risk of
unfavorable outcomes (i.e., detachment of the visually
important posterior retina) by nearly half, when applied
at the optimal timing of the pathogenetic process. Surgical attempts to reattach already detached retinas (e.g.,
through vitrectomies) have not been associated with
significant improvements in visual outcomes. Even after the acute period is over, children with a history of
ROP remain at some risk for late complications, including myopia, decreased visual field, strabismus, cataracts,
and later retinal detachments.
Major postnatal causes of significant visual impairment include CNS infections, eye or brain damage secondary to accidental or inflicted trauma (e.g., shaken
baby syndrome), and tumors (e.g., retinoblastoma).
Amblyopia, a common cause of unilateral, mild-tomoderate visual impairment in children, is characterized
by reduced visual acuity and depth perception secondary to abnormal visual development caused by lack of
patterned visual stimulation during the critical early
developmental period of the brains visual pathways
(i.e., birth to 7 to 8 years old). Amblyopia is usually the
result of persistent uncorrected strabismus, unilateral
obstruction of vision (e.g., dense cataract), or significant discrepancies in refraction between the two eyes.
Treatment in young children is aimed at removal of any
Vignette
Billy is a 3-year-old boy who has been followed by
his primary care pediatrician for spastic quadriparetic
cerebral palsy and significant cognitive impairments
associated with severe perinatal hypoxia. He was
referred to a developmental-behavioral pediatrician
because of increased frequency and intensity of
behavioral outbursts over the past 6 months. In
response to the consultants careful survey of the
past history and review of systems, Billys mother
acknowledged frustration and confusion about his
vision. Billy always seemed to be alert to sounds, but as
an infant and toddler, he often failed to notice nearby
objects. During the past year, his visual recognition
of nearby toys and people had begun to improve, but
Billy still sometimes seemed to ignore stationary
objects that were on the tray of his wheelchair. He
apparently has no difficulty tracking the movements
of people or objects, especially if they are brightly
colored and highly contrasted against their visual
background. Neurologic assessment of the visual
system showed normal pupillary responses to light and
normal extraocular muscle function. On attempted
visual acuity assessment (using a picture symbol
system), Billys responses were inconsistent and
difficult to interpret. Based on his history of initially
poor acuity that improved spontaneously, associated
with an apparently intact anterior visual system
(normal pupillary responses), the likelihood of cortical/
cerebral visual impairment was discussed with Billys
parents, and two referrals were made: (1) a pediatric
ophthalmologist for further assessment of the visual
system and (2) a preschool teacher with specialized
training and experience in working with children with
visual impairments.
699
g enetics; associated eye, brain, and somatic complications; and developmental-behavioral implications.
700
Table 71-1. Common Eye Conditions and Their Syndromic, Visual, Neurologic, and Behavioral Associations
Oculocutaneous albinism
Deficient prenatal
production of melanin
pigment in retina, hair,
and skin. Results in
maldevelopment of
retina, hypoplastic
macula
Variable reduction in
corrected visual acuity
(20/40 to 20/400)
Anomalous routing of
optic nerve fibers to
contralateral side
Difficulties tracking
objects that are small
and rapidly moving
Variable difficulty
recognizing people at a
distance
Photophobia
Pendular nystagmus from
birth, most prominent
in infancy
Significant refractive error
Astigmatism
Strabismus
No direct effect on
mental development.
In early infancy,
infant may not make
eye contact with
others. Some may
show mild, transient
developmental and
fine motor delays
owing to difficulties
with tracking and
depth perception.
May have head tilt
Regardless of visual
function, with
appropriate functional
vision assessment,
low-vision aids, and
minor curricular and
classroom adaptations, most children
with albinism can be
successful students
May struggle with
stigma of appearing
different, especially
children of darker
skinned racial groups.
May become targets
of social ostracism or
bullying or both
Benefit from consistent
support from parents,
teachers, and accepting
peers
Comments
Advocacy and Parent
Support available from
National Organization for Albinism and
Hypopigmentation
(NOAH), PO Box 959,
East Hampstead, NH
03826-0959. Phone:
800 473-2310 (U.S.
and Canada), 603 8872310. Fax: 800-6482310. URL: http://
www.albinism.org
Condition
Genetics
Pathophysiology
Conditions Involving Multiple Regions of Eye or Brain or Both
Common Ocular/
Visual Problems
Ocular albinism
Microphthalmia
Variable
Deficient prenatal
melanin production
causes macular
hypoplasia. Deficient
melanin in skin and
hair is apparent only
microscopically
Can be unilateral
or bilateral
Unknown or sporadic
(e.g., part of CHARGE*
association)
Heightened susceptibility
of skin to ultraviolet
injury
Variable, depending
on associated CNS
abnormalities
Highly variable
Depends on associated
CNS abnormalities
Behaviors associated
with photophobia
(e.g., keeping eyelids
partially closed,
excessive blinking)
Other, depending on
associated anomalies
*CHARGE, Coloboma, Heart disease, Atresia choanae, Retarded growth/developmental anomalies, Genital anomalies and/or hypogonadism, and Ear anomalies and/or deafness.
Continued
Coloboma
701
Genetics
Pathophysiology
Comments
Ophthalmoscopic
features of macular
colobomas; abnormal
red reflex, large optic
nerve head, and white
retinal defect (bare
sclera)
Persistently elevated
intraocular pressure
secondary to inadequate drainage of
aqueous humor from
anterior chamber
Uncontrolled pressure
leading to corneal
clouding; irreversible
damage to the optic
nerve
Peripheral vision is
affected first; tunnel
vision at end stages
None specific to
glaucoma
Behaviors associated
with photophobia
(e.g., keeping eyelids
partially closed, excessive blinking)
When suspected by
primary care physician,
prompt referral to pe
diatric ophthalmologist
is indicated. For a pediatric patient, glaucoma
can be identified by an
eye examination under
anesthesia
Frequent rubbing of eyes Treatment for children
usually requires surgery
and sometimes medical therapy to control
intraocular pressure. If
treated early in course,
visual loss usually can
be prevented. Follow-up
includes monitoring for
and aggressive management of myopia and any
amblyopia
Condition
Common Ocular/
Visual Problems
702
Table 71-1. Common Eye Conditions and Their Syndromic, Visual, Neurologic, and Behavioral Associationscontd
Aniridia
AD in 66%. Sporadic
in 33%
Deletion or mutation of
a transcription factor
gene, PAX6 (on chromosome 11p), is often
present
May be associated with
deletion of Wilms
tumor gene, also on
chromosome 11p
Photophobia common
Congenital nystagmus
Possible cataracts
Possible glaucoma
Optic nerve hypoplasia
Corneal opacification
High risk for glaucoma
Sometimes associated
with facial, dental,
or skin anomalies
Continued
Peters anomaly
703
704
Table 71-1. Common Eye Conditions and Their Syndromic, Visual, Neurologic, and Behavioral Associationscontd
Condition
Genetics
Pathophysiology
Cataract
Cloudiness of crystalline
lens
Small opacifications
in the anterior or
posterior poles of lens
(polar cataracts)
generally do not cause
visual impairment
AR and X-linked
patterns also
possible
Can be unilateral or
bilateral
Nonhereditary forms
Congenital, dense
cataracts, if not
treated very early,
can produce severe
visual impairment and
nystagmus
Significant unilateral
visual impairment
secondary to cataract
can result in permanent visual loss owing
to severe deprivation
amblyopia
Variable, depending
on degree of visual
impairment and presence of associated
CNS abnormalities
Comments
Lack of a normal red
reflex by an infants
primary care physician
is an indication for
prompt referral to pediatric ophthalmologist
If the cataract is dense
and present at birth,
it is crucial to remove
it surgically before 2
months of age (preferably in first few weeks
of life) to prevent
irreversible, severe
amblyopia and to allow
near-normal visual
development
Untreated, later acquired
cataracts still can
cause lesser degrees of
amblyopia up to age
7-8 yr
The postsurgical aphakic
eye requires eyeglasses
or contact lens to allow
usable vision
After removal of a
unilateral cataract,
patching of the normal
eye is often necessary to
counteract the childs
natural tendency to rely
exclusively on that eye,
and prevent amblyopia
Common Ocular/
Visual Problems
Persistent hyperplastic
primary vitreous
Apparently sporadic
No behaviors specific to
persistent hyperplastic
primary vitreous
Often associated
with additional
developmental
disabilities
Sometimes associated
with fine and gross
motor and spatial
awareness difficulties
that are more
pronounced than in
comparably visually
impaired children
owing to other causes
Retinal Disorders
Retinopathy of
prematurity
Although primarily
nongenetic, genetic
factors may increase
vulnerability among
affected premature
infants
Retinal neovascular
proliferative disorder
limited almost
exclusively to
premature infants
May be associated
with cerebral visual
impairment
Continued
705
Multisystem syndromes
(e.g., Apert syndrome, incontinentia
pigmenti, osteogenesis imperfecta,
Smith-Lemli-Opitz)
Intrauterine infections
(e.g., rubella,
cytomegalovirus)
Vitamin deficiency
(A, D)
Eye trauma
Exposure to toxins
Acquired cataracts can
be associated with
radiation and steroids
Failure of normal involu- Leukocoria (white pupil)
tion of the primitive
hyaloid vascular system
during 7th gestational
month
Leads to formation of
Usually unilateral;
opaque fibrovascular
involved eye is usually
membrane on posterior
microphthalmic
capsule of lens
If untreated, pulling of
Also can be associated
ciliary body can later
with cataracts, glaucause glaucoma and
coma, retinal detachloss of the eye
ment, and amblyopia
Visual function varies
from adequate (after
cataract surgery and
rehabilitation) to impaired (if retina/optic
nerve involved)
706
Table 71-1. Common Eye Conditions and Their Syndromic, Visual, Neurologic, and Behavioral Associationscontd
Genetics
Pathophysiology
Deafness
Self-stimulatory eye
pressing is common
Severe myopia
Cerebral palsy
In middle childhood
(age 10 yr), neonatal
threshold retinopathy
of prematurity
(stage III or greater)
is associated with
functional limitations
in health attributes
and reduced healthrelated quality of life
Among children who
developed threshold
retinopathy of
prematurity, there
is greater overall
developmental
impairment among
children with a
poor visual outcome
compared with
children with better
sight
Astigmatism
Autism
Anisometropia
Amblyopia
Strabismus
Intellectual disability
Learning disabilities
Attention-deficit/hyperactivity disorder
Comments
For all retinal disorders,
research and support
through Foundation
Fighting Blindness,
11435 Cronhill Drive,
Owings Mills, MD
21117. Phone: (800)
683-5555. URL:
www.blindness.org
Condition
Common Ocular/
Visual Problems
Leber congenital
amaurosis
Retinitis pigmentosa
AD (20%), AR (20%),
XR (10%), and
sporadic (50%)
A group of inherited
disorders affecting
the retinal pigment
epithelium, causing
dysfunction of outer
portions of the rods
and cones, eventually
causing blindness
Approximately 20%
have associated CNS
disorders (e.g., seizure
disorders, intellectual
disability
, autism, and
motor disorders)
Some children
are extremely
photophobic
Wide heterogeneity of
associated neurologic
and somatic symptoms,
particularly when retinitis pigmentosa is part
of a syndrome
Variable, depending
on degree of visual
impairment and
presence of associated
CNS abnormalities
Joubert syndrome
Batten disease
Zellweger syndrome
Bardet-Biedl syndrome
Usher syndrome
707
Continued
Group of conditions
characterized by abnormal development of
photoreceptor cells in
retina, with secondary
degenerative changes in
several cell layers in the
retina.
Diagnosis may change
over time as other ophthalmologic or systemic
symptoms become
apparent; these include
retinitis pigmentosa,
Joubert syndrome, and
Alstrm syndrome
Genetics
Pathophysiology
Initial ophthalmoscopic
examination of retina
may appear normal.
Eventually see dark
bone-spiculeshaped
densities of pigment
and attenuated blood
vessels
Comments
Refsum disease
N/A
Nystagmus is usually
present in association
with any visual acuity
deficits
Visual field cuts may
range from significant
limitations in central
or peripheral fields to
subtle peripheral field
loss
Photophobia occasionally noted
Stability of visual function (no deterioration
over time). Nystagmus
and visual acuity
sometimes spontaneously improve over
time
Early symptoms of
septo-optic dysplasia
may include neonatal hypoglycemia,
temperature instability,
hyperbilirubinemia, or
failure to thrive during
infancy. All children
diagnosed with optic
nerve hypoplasia should
have cranial imaging to
check for integrity of
midline structures and
a referral to a pediatric endocrinologist to
monitor for emerging
hormonal deficits
Family Support
site: http://www.
focusfamilies.org/focus/
Condition
Common Ocular/
Visual Problems
708
Table 71-1. Common Eye Conditions and Their Syndromic, Visual, Neurologic, and Behavioral Associationscontd
Variable, depending on
associated conditions
Injury or abnormal
prenatal development
of optic radiations or
visual cortex or both
Variable, depending
on degree of visual
impairment and types
of associated CNS
abnormalities
709
*CHARGE, Coloboma, Heart disease, Atresia choanae, Retarded growth/developmental anomalies, Genital anomalies and/or hypogonadism, and Ear anomalies and/or deafness.
AD, autosomal dominant; AR, autosomal recessive; CNS, central nervous system; VEGF, vascular endothelial growth factor; XR, X-linked recessive.
Data from Bizzarro et al, 2006; Good and Hoyt, 1989; Good et al, 2001; Holbrook, 1996; Kipp, 2003; Levin, 2003; Palmer et al, 2005; Quinn et al, 2004; Stout and Stout, 2003; Thompson and Kaufman, 2003; Warren,
1994; Wright, 2008.
710
Table 71-2. Central Nervous System Conditions Often Associated with Severe Visual Impairment and Other
Developmental or Chronic Disabilities
Central Nervous System Disorders
(Classified by Cause)
Associated Neurodevelopmental
andOther Chronic Disorders
Intellectual disability, cerebral palsy,
behavioral problems, epilepsy,
endocrinologic disorders (e.g.,
hypothyroid, diabetes insipidus)
Hearing impairment, intellectual
disability,
behavioral problems, epilepsy
Hearing impairment, intellectual
disability,
behavioral problems, epilepsy, renal
problems, poor growth
Intellectual disability
, behavioral problems,
epilepsy, cardiac problems, cleft palate,
poor growth
Intellectual disability
, poor growth,
endocrinologic abnormalities
Intellectual disability
, cerebral palsy, chronic
lung disease, poor growth, hydrocephalus
Intellectual disability
, cerebral palsy,
hydrocephalus, epilepsy, behavioral
problems, hearing impairment
Intellectual disability
, cerebral palsy,
behavioral problems, epilepsy
Adapted from Kelly DP, Teplin SW: Disorders of sensation: Hearing and visual impairment. In Wolraich M (ed): Disorders of Development and Learning, 3rd ed.
Hamilton, Ontario, Canada, BC Decker Inc., 2003, pp 329-343.
711
Figure 71-1. This toddler enjoys reading and writing, both visually and
tactilely (Braille). Her Twin Vision book has the books original print and
pictures plus transparent Braille pages. This allows a sighted caregiver to
read aloud while the child with visual impairment reads along. (For more
information on Twin Vision books, American Action Fund for Blind
Children and Adults, Baltimore, MD, see www.actionfund.org.)
712
713
Several states have specialized early intervention programs for only infants, toddlers, and preschoolers with
visual impairments. Preschool-age children also may be
served in a community preschool or a public preschool
setting. Most primary schoolage children with visual
impairments are educated in their home schools. Another option for placement is a day or residential school
for the blind. About 8% of students with legal blindness
are educated in special schools, such as state schools
for the blind (American Printing House for the Blind,
1997).
714
especially if any additional disabilities are present. Additionally, infant assessments, such as the Bayley Scales
of Development, often used in neonatal units and in
clinical settings are not good predictors of later function for a child with visual impairment. Criterionreferenced, developmentally sequenced assessments,
such as the Hawaii Early Learning Profile, which offer
small steps of progression, seem to fit into programming best. Later, testing (e.g., IQ) is complicated by
verbal versus performance issues; often only the verbal
component is administered, giving a skewed picture of
what the child may be able to do. Standardized testing
scores are currently important criteria for educational
accountability at a national level; developing tests with
adaptations and timing appropriate for different levels
of mastery for children with various visual impairments has become a priority issue. Results still must be
reviewed with caution. It is imperative that personnel
trained to work with young children who have visual
impairment be included in any formal assessment procedure conducted by Child Find Teams at early ages
and by educational institutions; without access to this
special expertise, assessment teams are likely to make
educational planning decisions that fail to meet the
childs needs.
A team needs to provide a thorough medical, developmental, and academic evaluation of the student to determine needs. An optimally comprehensive evaluation
of the child with visual impairment involves assessments
by specialists from multiple disciplines, including the
pediatric ophthalmologist, pediatrician, TVI, and other
school personnel. Depending on the childs presenting
difficulties, other disciplines that may be crucial are occupational or physical therapist, COMS, social worker,
and speech-language pathologist. Synthesis of the evaluation findings requires effective communication between
all involved professionals. With this information, the
TVI is equipped to make recommendations for adaptations that allow optimal learning and skill development
within the childs natural environments and routines at
home, school, and community. Contrary to what primary care physicians often assume, the ophthalmologists expertise does not usually include knowledge
about the cognitive, educational, emotional, and social
implications of visual impairment in children.
Although the primary care physician does not need
to attain expertise in these areas, as the provider of
the childs medical home, he or she is well prepared
for the role of providing ongoing family support and
learning about developmental and special educational
resources for children with visual impairment in the community. Consultation with a developmental-behavioral
or neurodevelopmental pediatrician, particularlywhen
this subspecialist works in an interdisciplinary environment, is another way that the family can obtain
additional information about their childs unique
developmental strengths and needs; how the childs
visual function affects his or her behavior and learning; whether there are any genetic considerations; and
whether the nature of the childs eye or CNS conditions
suggest that further medical, metabolic, or genetic
workup is indicated.
SUMMARY
With proper identification, appropriate medical and family
supports, early referral to and the provision of educational
services, children who are blind and visually impaired can
experience learning and living to their full potential.
REFERENCES
American Foundation for the Blind. 2007. Available at: http://afb.org/
Section.asp?SectionID=44&TopicID=189&SubTopicID=4.
American Printing House for the Blind. 1997. Available at: www.aph.
org/
Anthony TL: Performing a functional low vision assessment. In
DAndrea FM, Farrenkopf C (eds): Looking to Learning: Promoting Literacy for Students with Low Vision. New York, American
Foundation for the Blind Press, 2000, p 32-83.
Bizzarro MJ, Hussain N, Jonsson B, et al: Genetic susceptibility to retinopathy of prematurity. Pediatrics 2006; 118;1858-1863, 2006.
Good WV, Hoyt CR: Behavioral correlates of poor vision in children.
Int Ophthalmol Clin 29:57-60, 1989.
Good WV, Jan JE, Burden SK, et al: Recent advances in cortical visual
impairment. Dev Med Child Neurol 43:56-60, 2001.
Holbrook MC (ed): Children with Visual ImpairmentsAParents
Guide, 2nd ed. Bethesda, MD, Woodbine House, 2006.
Huebner KM, Merk-Adams B, Stryker D, Wolffe K: The National
Agenda for the Education of Children and Youths with Visual Impairments, Including Those with Multiple Disabilities, rev ed. New
York, AFB Press, 2004.
Kipp MA: Childhood glaucoma. Pediatr Clin North Am 50:89-104,
2003.
Kirchner C: National estimates of prevalence and demographics of
children with visual impairments. In Wang MC, Reynolds MC,
Walberg HJ (eds): Handbook of Special Education Research and
Practice
, Vol 3. Low Incidence Conditions.
Oxford, Pergamon,
1989, pp 135-153.
Kirchner C, Schmeidler E, Todorov A: Looking at Employment through
a Lifespan Telescope: Age, Health and Employment Status of People
with Serious Visual Impairment. Mississippi State, MS, Rehabilitation
Research and Training Center on Blindness and Low Vision, 1999.
Koenig AJ, Holbrook MC: Learning Media Assessment of Students
with Visual Impairments: A Resource Guide. Austin, TX, Texas
School for the Blind and Visually Impaired, 1995.
Levin AV: Congenital eye anomalies. Pediatr Clin North Am 50:
55-76, 2003.
Nielsen L: Space and self: Active learning by means of the little room.
Copenhagen, Sikon, 1992.
Palmer EA, Hardy RJ, Dobson V, et al: 15-year outcomes following
threshold retinopathy of prematurity: Final results from the multicenter trial of cryotherapy for retinopathy of prematurity. Arch
Ophthalmol 123:311-318, 2005.
715
SUGGESTED READINGS
Holbrook MC: Children with Visual Impairments: A Parents Guide.
Bethesda, MD, Woodbine House, 2006. This book is authored by
an expert team of parents and professionals. It offers jargon-free
advice to parents of young children with visual impairments from
birth to age 7.
Lueck AH, Chen D, Kekelis L: Developmental Guidelines for Infants
with Visual Impairment: A Manual for Early Intervention. Louisville,
KY, American Printing House for the Blind, 1997. This manual
was written for professionals working with children with visual impairments from birth through 2 years of age. The manual includes
narrative chapters and developmental charts in the domains of socialemotional, communication, cognitive, and motor development.
Pogrund RL, Fazzi DL: Early Focus: Working with Young Children
Who Are Blind or Visually Impaired and Their Families, 2nd ed.
New York, American Foundation for the Blind Press, 2002. This
book addresses young children with visual impairments, including
children with additional disabilities. It addresses challenges and intervention recommendations in all developmental domains, including early literacy, daily living skills, and orientation and mobility.
716
Texas School for the Blind and Visually Impaired. Available at:
http://www.tsbvi.edu. This is a comprehensive website with
many instructive articles on topics related to visual impairment
in children, medical and educational approaches, and glossaries
of terms.
72
Vignette
Travis was a handsome, social 26-month-old child. His speech and language skills lagged far behind
those of his older sister when she was that age. His mother had discussed her concerns about Traviss
language development on several occasions with his pediatrician. The pediatrician insisted that boys
develop more slowly than girls, and besides his chatty sister spoke for him. Then, Travis began to
tantrum in frustration if he was not understood. His mother learned from a neighbor that she could
make her own referral to the publicly financed early intervention service program for evaluation.
The speech-language pathologist confirmed that Travis expressive language skills were
comparable to a child 14 months of age, although receptive skills and cognition were near age
appropriate. His hearing was rechecked despite a normal screen at birth and was found to be
adequate for speech perception. He was enrolled in a toddler communication group, 2 hours per
session, two sessions per week, with a speech-language pathologist. Slowly, Travis began to increase
his vocabulary and build grammatical skills. At 36 months of age, his vocabulary was greater than
250 words, and he was speaking in short phrases. At 48 months old, he had residual immaturities
in speech sounds, but had caught up with peers in all other domains of communication. At age
7years, his second grade teacher called his parents in for a conference because he still made some
articulation errors and his reading skills were below age expectations.
DEFINITIONS
Language is the symbolic and systematic communication
system through which humans share ideas, thoughts,
emotions, and beliefs. Language is symbolic because
meaning is conveyed through arbitrary sounds and
words, which have no direct connection to their meanings. Language is systematic in that each language has
its own distinctive rules, which govern the placement
of sounds in words and words in sentences. Order cannot be altered without changing the meaning or violating a rule. Using arbitrary signs and combinatory rules,
humans have the capacity to create and understand an
infinite number of messages.
Speech refers specifically to oral or verbal output of
language. Speech results from a complex interaction of
the respiratory system, larynx, pharynx, mouth structures, and nose. Alternative outputs of the language system are sign language and written language.
Language is subdivided into components to facilitate
description for clinical and research purposes. Receptive
language refers to the ability to understand or comprehend words, sentences, discourse, and conversation. Expressive language refers to the ability to produce words,
NORMAL DEVELOPMENT
Newborns show the social and auditory building blocks
for language development. At birth, they prefer to look
at the human face over other visual stimuli and to listen
to the human voice over other auditory stimuli. Infants
show the ability to discriminate similar speech sounds
(/ba/versus/pa/). They also can use the statistical properties of sound co-occurrences in continuous streams of
717
718
Definition
Examples
Phoneme
Phonology
Morpheme
Lexicon (vocabulary)
Syntax (grammar), also known
as morphosyntax
Semantics
Pragmatics
Definition
Speech sound
inventory
Articulation
errors
Phonologic
errors
Intelligibility
Stimulability
Fluency
Voice and
resonance
Type of
Vocalization
Stage 1 (birth
to 1 mo)
Vegetative and
reflexive
vocalizations
Stage 2
(2-3 mo)
Cooing
Stage 3
(4-6 mo)
Vocal play
Stage 4A
(6-8 mo)
Canonical or
reduplicated
babbling
Stage 4B
(8-12 mo)
Variegated
babbling
Description
Crying, fussing, coughing,
and burping
Normal phonation, limited
resonance
Vocalizations with closed
or nearly closed small
mouth
Sounds produced in the
back of the mouth
Primitive consonant-vowel
syllables without timing
of articulatory gestures
for adult consonants
Experimentation with
sounds, including
repetition of vowel-like
elements
Squeals, yells, raspberries,
and clicks
Adult-like vowels and
consonant-vowel
syllables without regularsyllable timing
Strings of repeated true
consonant-resonant vowel sequences (/bababa/,
/dididi/)
Large variety of consonants
and vowels within a
single utterance
Sentence-like intonation
(jargon)
They also begin to show emerging linguistic comprehension of common words such as no, mama, and daddy.
During the first year of life, infants learn to produce
the sounds of their native language (Table 72-3) (Oller,
1980; Stark, 1980). During the first 6 months, infants
learn how to control the mouth to produce vowels
and some consonants, loudness, pitch, and intonation.
During the second 6 months of life, infants learn how
to produce chains of syllables and the intonation patterns of sentences. At the end of their first year, infants
719
Table 72-4. Receptive Language Development: Average Age of Acquisition and Age Indicating Significant
Delay or Red Flag
Receptive Language Milestones
Significant Delays
and Red Flags
Birth to 1 mo
Birth to 1 mo, then again 3-5 mo
6-8 mo
8-10 mo
9-11 mo
9-10 mo
10-13 mo
12-16 mo
12 mo
2 mo
6 mo
10 mo
12 mo
15 mo
15 mo
15 mo
18 mo
18 mo
24 mo
30 mo
24-30 mo
36 mo
Table 72-5. Expressive Language Development: Average Age of Acquisition and Age Indicating Significant
Delay or Red Flag
Expressive Language Milestones
Significant Delays
and Red Flags
Cooing
Babbling
Nonverbal purposeful messages (requests with a reach; shows objects)
Pointing
Says 3 different spontaneous words
Vocabulary at least 35-50 words
Production of 2-word phrases (Mommy sock; No water)
Simple sentences (I want juice; Wheres my ball?)
Intelligibility to unfamiliar adult at >50%
Able to tell about a past event with parent asking questions
(personal narrative)
Able to tell or retell a familiar story
Fully intelligible to an unfamiliar adult (despite some immature
sounds, such as consonant clusters or /r/ and /l/)
Fully mature speech sounds
2-3 mo
6-8 mo
9-10 mo
10-11 mo
12-15 mo
18-22 mo
18-22 mo
24-30 mo
30-36 mo
24-30 mo
6 mo
10 mo
12 mo
14 mo
16 mo
24 mo
24 mo
36 mo
42 mo
36 mo
36-48 mo
48-54 mo
54 mo
60 mo
Up to 72 mo
>72 mo
DEVELOPMENTAL VARIATIONS
The rate of language and speech development varies, even
among children who ultimately exhibit normal skills.
Many children build a vocabulary of object names (ball,
dog, shoe) and progress from a clear one-word phase to
a clear two-word phase (Mommy shoe). Other children first learn fixed social expressions (thank you,
gimmedat, or whazat), using language to express
needs or to interact with others. They may not go
through a clear one-word and two-word phase. These
early stylistic differences do not seem to predict major
differences in later development (Bates et al, 1994).
Studies consistently document that girls are ahead of
boys during the early stages of language development.
720
Differences in vocabulary size and grammatical complexity are minor, however, equivalent to about 1 to 2
months of developmental progress (Fenson et al, 1994).
Because boys are more likely than girls to develop language disorders, a substantial delay in the early stages of
language development for boys or girls warrants prompt
evaluation, rather than watchful waiting.
Studies have found minor, stylistic differences in the
language development of first-born and later born children. These differences are likely related to differences
in the environments of children of different birth orders
(Hoff-Ginsburg, 1998). Children usually find great utility in speaking for themselves, however, rather than letting an older sibling guess what they want.
Children in bilingual households often show language
mixing in the early phases of language development. As
they acquire more language skills, they begin to segregate the two languages into separate systems. Their
developmental rate is not substantially delayed, however,
if the accomplishments of the two languages are added
together (Pearson et al, 1993). Substantial delay in bilingual children requires a comprehensive evaluation.
The rates of vocabulary and syntactic development
are associated with the amount of child-directed language in the environment of the child. On average,
parents in the lower socioeconomic strata provide less
child-directed language than middle-class parents (Hart
and Risley, 1995). As a group, children from the lower
socioeconomic classes show slower language development, reduced vocabulary, and less developed syntax
than children from middle-class families (Dollaghan
et al, 1999). Improvements in the quality and quantity
of environmental input can improve at least the shortterm prognosis (Huttenlocher et al, 1998, 2002).
DEVELOPMENTAL DELAY
A childs communication may be considered delayed
when it is noticeably behind age-matched peers. There
is no consensus on the degree of delay that is clinically
significant. For some purposes, the criterion for language delay is performance 1.5 to 2 standard deviations
or greater below the population mean on standardized
tests of speech or language. In some states, a developmental delay of at least 25% in one or more domains
of functioning, calculated from the ratio of developmental age to chronologic age, renders the child eligible
for early intervention services. Using this latter definition, a 24-month-old who is functioning at the level of a
17-month-old in at least one aspect of language development has a significant delay.
It is exceedingly difficult to predict which children
who show initial delays are destined to develop language
disorders. Approximately half of children delayed at
2 years of age catch up to peers by 3 years of age. Resolution of the delays has been weakly associated with
good receptive language and mature symbolic play
skills. For this reason, assessment of language in toddlers includes an evaluation of comprehension and play.
Language is used for a variety of purposes, including
expressing wants and needs, greeting others, describing
objects or actions, and answering questions. If the range
EVALUATION PROCEDURES
Assessment procedures vary as a function of the age,
cognitive level, and social characteristics of the children.
In addition, the purpose of evaluation must be considered in the selection of assessment procedures.
Screening
Screening establishes whether asymptomatic children
are at high risk for language or speech impairment.
Screening procedures rely heavily on parent reports or in
terviews because direct assessment of children at young
ages is time-consuming and not likely to produce representative samples of the childs capacities. The Early
Language Milestone (ELM) test, a test that is used as a
screening instrument in some pediatric practices, combines parent interview with direct observation. The Pediatric Evaluation of Developmental Status and the Ages
and Stages questionnaires include speech and language
items, and assess other domains using parent reports.
Diagnostic Testing
Diagnostic testing establishes the clinical status of the
child in terms of multiple aspects of communication
abilities and performance. In infants, toddlers, and
young preschoolers, the purposes of assessment are
identifying children with delays and disorders who
could benefit from early intervention services, determining eligibility for early intervention services, designing
intervention strategies and targets, monitoring the effectiveness of treatment, and educating parents about
strategies for facilitating communication development.
In older preschoolers and school-age children, the purpose of assessment is often to explain academic, social,
or communication difficulties, and to identify children
in need of therapeutic and support services. Children
with reading and spelling problems may have underlying
speech and language disorders. Children with behavior
difficulties may have comprehension and pragmatic deficits, or slow and effortful expressive language contributing to the behavior disorders. Evaluations at these ages
are used to establish the nature of intervention and specific target outcomes. As children get older, assessments
are more likely to provide insights into the prognosis for
future functioning. At all ages, language and speech assessments are prerequisites for monitoring progress.
Accurate assessment of infants and toddlers is challenging because of the low frequency of verbal output
and the difficulty that young children have in cooperating with clinicians. Informal observations, parent interview tools, and natural assessments play an important
role in the evaluation of young children. Formal assessments become more central to evaluation as the child
reaches preschool age and beyond. The specific assessment protocol should be individualized and usually integrates more than one approach.
Parent interviews
Child observations
721
Direct child observation is another strategy of evaluation for young children. The Communication and Symbolic Behavior Scales (CSBS) and the Autism Diagnostic
Observation Schedule combine parent interview with
professional observations of the childs social and communicative behaviors under semistructured situations.
They are valuable in the evaluation of children who may
be along the autism spectrum.
Criterion-Referenced Measures
Criterion-referenced tests measure what skills the child
has mastered from either the set of skills in development
sequence or from a curriculum used to treat children
Table 72-7. Norm-Referenced Comprehensive
Measures of Language and Speech
Age Range
Specific Instruments
Birth to
3 yr
Birth to
6 yr
Preschool
School-age
722
Specific Instruments
Receptive language
Expressive
vocabulary
Morphosyntax
Pragmatics
Language
comprehension
Plans (IFSP), and to monitor progress. Often criterionreferenced tests generate age equivalents or developmental quotients, rather than or in addition to scaled
scores. Examples of criterion-referenced assessments
are the Hawaii Early Learning Profile and the Battelle
Developmental Inventory, Second Edition.
Assessment of Speech
Tests are available to assess speech sound development.
These tests typically assess speech sound production in
single words, but not in connected discourse, and overestimate the childs overall speech abilities and level of
intelligibility for speech. Examples of such tests are the
Goldman-Fristoe Test of Articulation2 and the Photo
Articulation Test. Conversational analysis is a useful adjunct to identify children with a few selected articulation
problems or to characterize the speech problems that
emerge as words and sentences increase in length.
LANGUAGE DISORDERS
Causes
Table 72-9 summarizes the requirements for normal
language development. First, children need to interact
with responsive adults, ideally in an unstressed environment. Second, they must hear an ample corpus of
language. Third, they must use cognitive and neural
processes to derive meaning from sound and to learn the
combinatorial rules for sounds, words, and sentences.
Finally, they must be able to organize their pharynx,
tongue, mouth, and breathing apparatus to produce
speech quickly and accurately. Table 72-9 also provides
examples of problems within the social environment,
verbal environment, hearing apparatus, cognitive/neurologic system, and speech production mechanisms
that lead to language delays and disorders. These conditions constitute the differential diagnosis of language
and speech disorders. The main causes of language and
speech delay are unresponsive social interaction and impoverished verbal input, hearing loss, cognitive impairment (which may occur in isolation or in the context of
a neurologic or genetic condition), autism, and specific
language impairment (SLI).
Table 72-9. Causes of Delays and Disorders in Language and Speech as a Function
of Fundamental Requirements
Requirements
Social Interactions
Verbal Input
Hearing
Neural Processing
Speech Apparatus
Normal
Responsive
Adequate
Threshold <20 dB
across frequencies
Intact neural
pathways
Causes of delays
and disorders
Unresponsive social
interactions
Psychosocial
deprivation
Child abuse and
neglect
Stressful environment
Impoverished
verbal input
Hearing loss
Auditory neuropathy
Auditory processing
disorder
Cognitive impairment
Chromosomal or
genetic disorder
Neural injury
Seizure disorders
Autism
Specific language
impairment
Dysarthria
Childhood apraxia
of speech
Hearing Loss
Normal conversation averages 40 to 60 dB in intensity
and clusters in the range of 500 to 2000 Hz in frequency.
Some speech sounds, such as vowels and the consonants
/m, n, and b/, are relatively low frequencies and high intensity, rendering them easy to hear. Other sounds, such
as the consonants /s, f, and th/, are high frequency and
low intensity, rendering them more difficult to hear.
The degree of hearing loss and the range of frequencies affected determines the amount of speech readily
perceived (see Chapter 70). In mild hearing loss, the quietest sound that a person can hear is 25 to 40 dB. At this
degree of loss, some high-frequency speech sounds may
be difficult to detect, especially in background noise, and
other sounds may be distorted. In moderate hearing loss,
the quietest sound that a person can hear is 40 to 60 or
70 dB, depending on the specific standards used. With
this degree of hearing loss, many to all speech sounds
in normal conversations would be difficult to detect.
In severe hearing loss, the quietest sound that a person
can hear is 70 to 90 dB, and in profound hearing loss,
the quietest sound is greater than 90 dB. At these levels,
almost all conversational language cannot be perceived
without amplification.
Children with bilateral severe-to-profound sensorineural hearing loss generally have difficulty in comprehending and producing oral language. Their success at
learning language depends on multiple factors, including the extent of the hearing loss, the age of receiving
amplification for treatment, and the consistency of use
of amplification. Currently, many children with sensorineural hearing loss have their loss detected in the newborn period as the result of Universal Newborn Hearing
Screening. Data suggest that this public policy results
in better outcomes in some domains for children with
hearing loss than in the past, when losses were often
not detected until language delays were identified, often when children were 2 to 3 years old (Kennedy et al,
2006). Children with bilateral severe-to-profound sensorineural hearing loss may be candidates for cochlear
implantation, a prosthetic device that allows perception
of the auditory signal. Cochlear implantation dramatically improves the prognosis for speech and language
skills in children with profound hearing loss (Spencer
et al, 2003).
Children with mild-to-moderate hearing loss have
variable outcomes in terms of language. Some may
show normal vocabulary, sentence comprehension, and
723
Cognitive Impairment
Developmental delays in language learning are often the
presenting complaint for children with mild-to-moderate
overall cognitive impairment because language skills represent one of the early milestones in cognitive development. If cognitive impairment is severe and persistent, and
if adaptive behaviors are affected, the diagnosis of intellectual disability may be appropriate.
Children with mild cognitive impairment typically
show normal progression of speech and language skills
at a slow developmental rate. Vocabulary and grammar
are typically affected, although pragmatic skills may
be preserved. Abstract language concepts may present
severe challenges. Parents of children who function in
the range of mild intellectual disability are more likely
to have cognitive impairments than parents of children
of normal intelligence, and may not provide stimulating
verbal input, adding environmental factors to any genetic contributions to the language disorder. Early intervention services may improve the quality and quantity of
724
language input to children with mild cognitive impairment or mild intellectual disability, either by directing
services to the parents or to the children. In either case,
the services tend to improve the childrens skills.
Moderate, severe, and profound intellectual disability is often associated with a single biologic cause, such
as genetic disorders, metabolic diseases, or neural malformation. The prognosis for language skills depends on
the cause and is less favorable than for mild retardation. Social interactions with typically developing peers
and speech-language therapy may improve functional
communication, however. Treatment typically focuses
on promoting communication skills in different environments (e.g., at home; at school) and on improving
effectiveness of nonverbal communication for children with poor speech. Low-technology alternative or
augmentative means may be incorporated to help improve communication. A child might be trained to hit a
switch as a means of activating a tape recorder to offer
a social greeting. This approach provides a method for
teaching cause-effect relationships and for motivating
communication.
Autism
Autism is characterized by qualitative impairments of
communication. Autism should be considered in the differential diagnosis for children with primary language
delays or regression of skills in the language and social
domains (see Chapter 69).
In the most severe cases of autism, children totally
lack a means of communication, including verbal language, sign language, or gestures. They often use nonsymbolic communication, such as dragging a parent to
a desired object and whining until the parent figures out
what they want. Many children with autism eventually
may learn some rudimentary language, but they do not
engage in social interactions with others beyond making
requests or demands. They lack the ability to establish
a joint focus of attention. In moderately severe cases,
children with autism may show limited vocabulary and
grammar skills; poor pragmatic skills; and stereotyped,
repetitive, or idiosyncratic uses of language. At the mild
end of the spectrum, children may show an inability
to initiate or sustain a conversation with others. Their
ability to engage in conversational exchanges with peers
and unfamiliar adults is constrained because they cannot maintain the topic of conversation. Poor communication further compromises their social interactions,
limiting their ability to develop friendships with peers.
The prognosis for language and communication for
children with autism is evolving as the definition of the
disorder changes and intensive early intervention services become routine. In adults with autism who have
become successful communicators, pragmatic skills typically remain underdeveloped. They have difficulty understanding humor or metaphor. They continue to have
problems reading the social cues of their listener, modifying the topics of communication, and engaging in social interactions. Intonation remains flat or unchanging.
Neurologic Conditions
Distinctive patterns of language use have been associated with specific neurologic conditions. Hydrocephaly,
the abnormal accumulation of the cerebrospinal fluid
in isolation or in association with other disorders, such
as myelomeningocele, is associated with what has been
described as cocktail party chatter. These children
develop diverse vocabularies and appropriate syntax,
725
726
e xaggerated stress and intonation patterns, and articulate their own language clearly.
Other foci of intervention address specific areas of
deficit. The goal of treatment may be increasing the
childs vocabulary, varying the sentence structure, or
lengthening conversations. The techniques involve direct engagement with the child to facilitate learning.
Focused stimulation is a technique in which the speechlanguage pathologist provides an intensive level of modeling a target behavior, on the assumption that a child
with language delay needs a higher level of exposure to
terms and grammatical structures to learn them. A child
may be asked to show comprehension or to produce a
target structure in appropriate contexts. Modeling and
imitation are other useful strategies. Rules of grammar may be explained, then practiced using drill work
to teach structures. Subsequently, the speech-language
pathologist provides structured opportunities to use the
structures frequently in conversational exchanges in the
clinic and then in other environments (i.e., classroom,
playground, and home). This strategy increases the
likelihood that the child will generalize new abilities to
everyday situations.
The outcome of therapy varies. Children with mildto-moderate disorders are more likely to resolve their
difficulties than children with severe disorders. Currently, there is little evidence of which treatment strategies are the most effective for which types of language
disorders. Children who participate in speech-language
treatment show better improvement than children who
have no treatment. Additionally, children enrolled in
early intervention services show stronger language skills
and academic performance than children who did not
receive early intervention.
Articulation Disorders
The inability to produce sounds correctly in speech is
referred to as an articulation disorder. Children with articulation disorders typically exhibit errors on a small
subset of sounds (e.g., /r, l, s/). In most cases, there is no
Phonologic Disorders
When a child shows speech errors based on patterns or
implicit rules, despite the ability to produce the same
sounds correctly in other contexts, the problem is labeled a phonologic disorder. A child with this disorder
says pi for pig, although he or she can say go,
or tuh for tub, although he or she can pronounce
bee. These are examples of final consonant deletion.
The child seems to be applying an incorrect rule (e.g., it
is permissible to drop the last sound of a word), rather
than showing an inability to produce the sound correctly. When asked to imitate nonsense syllables (e.g.,
mib, bup), the child does not use the rule and produces the syllable correctly. When asked to imitate real
words (e.g., mob, beep), the child applies the rule,
and in this case drops the final consonant.
Most commonly, children continue to follow a rule
that was age appropriate at an earlier time. In some situations, they produce errors atypical of normal development (e.g., deletion of initial consonants). Children with
phonologic errors typically have moderate-to-severe
deficits in speech skills, which have a significant impact
on their overall intelligibility and communication effectiveness. Research has suggested that children with phonologic disorders need on average 21 to 42 sessions to
advance from being understood by unfamiliar listeners
less than 50% of the time to being understood 75% of
the time (Campbell, 1999).
Anatomic Disorders
Children with cleft palate are at extremely high risk for
phonologic disorders and language deficits. Even after
early and appropriate repair of an isolated cleft palate,
the children may exhibit unusual or idiosyncratic patt
erns of articulation. The main problem for these children
is that the velopharyngeal structures function abnormally, resulting in an inability to generate adequate intraoral air pressure for the production of consonants.
They may produce only consonants made in the back of
the mouth (e.g., /k, g, u/), or may use consonants that
do not appear in the English language (e.g., pharyngeal
fricatives and nasal snorts).
Some children have isolated velopharyngeal insufficiency for unknown reasons. These children are at risk
Neurologic Disorders
Dysarthria is a speech disorder associated with neuromotor disorders or dysfunction. Children with cerebral
palsy may present with dysarthria. High muscle tone,
poor coordination of motor movements, and poor coordination of respiration and sound production result
in slow muscular movements and limited range of motion. Dysarthric speech has a slurred and strained quality, affecting not only the accuracy of speech sound
production, but also rate, pitch, and intonation. Speech
therapy for such children can help them to slow the pace
of speaking, improve respiratory control for phrase production, and improve the intelligibility of their output.
For children whose speech intelligibility is severely compromised despite intact language skills, an assistive or
augmentative communication device, such as a picture
exchange system or a computer device, may improve
their functional communication.
Childhood apraxia of speech, known alternatively as
developmental verbal apraxia or dyspraxia, is a condition in which children have difficulty with the controlled
production of speech sounds. The presumed etiology is
neurologic in origin, although imaging studies do not
find consistent anatomic lesions. Criteria for diagnosis
vary among clinicians. The first symptoms of apraxia
may be a lack of expressive vocabulary despite normal
hearing, language comprehension skills, and social interaction skills. As expressive language emerges, speech
may consist of primarily vowel sequences, with very few
consonants produced, even in babbling. Affected children make errors in producing vowels and consonants,
and show enormous variability in terms of phonemes,
loudness, and related features. The inconsistency in
their production makes interpretation of their speech
very challenging. When they are able to produce a sound
correctly in a single word (e.g., /m/ in mom), they may
not be able to produce the same sound in other words,
particularly longer words (e.g., mama, moon, broom).
In some children, apraxia of speech seems to be an
isolated speech deficit. In other children, it is associated
with cognitive, learning, motor, or social-emotional
abnormalities.
Intensive levels of treatment are needed to help children with childhood apraxia of speech learn to produce
sounds in syllables of increasing complexity. Research
has suggested that children with apraxia needed on average 144 to 168 sessions to move from 50% of their
speech being understood by unfamiliar listeners to 75%
of their speech being understood, fivefold more sessions than needed for a phonologic disorder (Campbell,
1999). In the initial phases of treatment, each phoneme,
727
in increasing levels of complexity, must be taught because the child may have no ability to generalize production of the sound in one syllable to varied syllables.
Treatment integrates motor learning, strategies with
multimodality input, and language enrichment. Many
affected children have residual speech sound errors and
exhibit difficulties in comprehension and narrative skills
in school-age years.
Stuttering
Dysfluency is a disruption in the ongoing flow of speech.
Children between 3 and 4 years old frequently show developmental dysfluency, often repeating whole words,
phrases, or sentences. This dysfluency occurs as they try
to put more complex meanings into longer sentences,
while their proficiency in production remains limited. Fluency in a normal child improves at age 4, although many
adults display continued bursts of dysfluency when trying
to explain difficult material or speaking under stress.
Stuttering is the most common cause of significant
dysfluency, manifested by repetition of sounds and syllables and prolongation of vowels or consonants made
with a continuous airflow (e.g., /s, f/). Stuttering is often
accompanied by inappropriate pauses, repetitive facial
expressions, or other behavioral routines (i.e., arm jerks
or knee slapping). Approximately 1% of people stutter. The degree of stuttering varies across individuals,
ranging from a mild annoyance to a severe disruption
of speech. The degree of stuttering also varies within individuals, subsiding in relaxed conversation and flaring
on the telephone or during public speaking. Stuttering
disorders may co-occur with speech sound disorders or
language disorders or both. They also are common in
children and adults with developmental disabilities owing to cognitive impairments.
The cause of stuttering is unknown. Some cases are
associated with known neural injury, fueling the speculation that the disorder represents a neural timing disorder. Stuttering also is associated with anxiety, however,
and it remains unclear which is the primary cause and
which the effect. In most studies, individuals who stutter do not differ from control populations in terms of
anatomy, physiology, or personality.
Speech therapy started at very young ages has been
shown to improve stuttering. If stuttering is accompanied by behavior routines, treatment is indicated as
soon as possible. In young children, treatment typically
focuses on teaching family members to provide an environment to facilitate fluent speech behaviors. Total
elimination of stuttering is not a realistic goal. Intervention focuses on teaching compensatory strategies, and
becoming comfortable interacting and communicating
in different environments despite the disability.
728
SUMMARY
Language and speech are important developmental
skills. Most children acquire mastery of language by age
5 years and speech by age 7 years without specific instruction. Delays at age 2 years represent a significant
risk factor for speech and/or language disorders, but
prediction of which children will progress normally is
difficult. Language and speech sound disorders are prevalent in children, and can adversely affect other domains
of functioning, including learning, communication, and
social relationships, and response to therapy.
A child such as Travis in the vignette at the beginning of this chapter, who shows early delays, warrants
a prompt assessment. The fact that he is a second-born
male child is not adequate explanation for the degree of
delays. Proper diagnosis of the language and speech disorder entails formal and informal assessments of multiple domains of communication, and evaluation of play
and receptive language. Speech and language disorders
are generally caused by unresponsive social interactions
or inadequate verbal input, hearing loss, cognitive and
neurologic disorders including autism, specific language
impairment, and anatomic disruptions. Table 72-10
provides an approach to the assessment of a child with
language and speech delays based on this differential
diagnosis. The assessment evaluates cognition, social
skills, family history, physical examination, and neurologic examination. A team approach is ideal.
Proposed Evaluator
(s)
Hearing
Developmental status
Medical and
neurologic issues
Psychosocial conditionsquality of
social interaction;
amount of verbal
input
All evaluators
Social workers
Family history
General health
Growth parameters
Dysmorphic features
Skin
Neurologic examination
Quality and quantity of verbal input
Quality of social interactions, including warmth, responsivity, reciprocity, and safety
ABR, auditory brainstem response; ENT, ear, nose, and throat; OAE, otoacoustic emission; SLP, speech-language pathologist.
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73
Vignette
Thom, 8 years old, reportedly does well academically
and is a sweet kid. Although a good student, Thoms
mother explains that he is clumsy and sometimes
trips or falls for no reason. He did not learn to ride
a bike until this year. He cannot sequence a hop,
skip, and jump, and is poor at catching a ball. Thom
compensates for his poor body awareness by moving
slowly and cautiously on stairs and unstable surfaces.
Movements that others make automatically seem
to require greater conscious effort and planning.
Although Thom does well in school, his parents
worry about his self-esteem and wish he could
participate more in sports and the active play of his
peers. On examination, Thom has poor posture, low
trunk extension tone, and poor postural stability, as
evidenced by his slightly kyphotic posture. He has no
evidence of central nervous system impairment.
731
Performance Consequence
Secondary Issues
Vestibular-postural disorder
Poor balance
Low or low normal muscle tone
Mild-to-moderate postural instability
Primitive equilibrium responses
May exhibit delayed oculomotor control
(related to vestibular system influence on
ocular movements)
Poor motor planning when presented with
a novel task
Decreased bilateral coordination and
sequenced actions
Delays in activities of daily living
Poor handwriting
Difficulty conceiving complex motor actions
Difficulty planning and performing projected
action sequence
Dyspraxia
732
Vignette
Mornings tend to be stressful for the Towson family
because 4-year-old Bethanys sensory modulation
problems insert chaos into their everyday routine.
Although she is often the first to awaken, getting
dressed tends to be a battle because Bethany prefers
to stay in her soft nightgown and refuses to don her
preschool clothes, which feel scratchy. Despite her
mother using softeners to make new clothes more
acceptable to her, Bethany has a dresser full of clothes
that she refuses to wear. She does not wear socks with
seams; clothes that are stiff, textured, or rough; or
shirts with tags. She refuses to wear clothes washed
in smelly (fragrant) detergent. Breakfast also is a
struggle because Bethany rejects the foods that the
other family members enjoy. She prefers totally bland
and soft foods, stating that other foods do not feel
right or smell yucky. Although Bethanys parents
do their best to accommodate her pickiness, she often
arrives late at school, hungry and wearing her outfit
from the previous day.
children can be disruptive or inappropriate in social situations. In extreme cases, safety is a concern. One objective of intervention is to identify strategies that meet the
childs need for sensory input through socially acceptable
and safe activities.
Children with SMD have been shown to have a different pattern of physiologic response to sensory input.
McIntosh and colleagues (1999) found that children with
SMD exhibited heightened and sustained galvanic skin
response to a sensory stimulation challenge. Specifically,
their electrodermic reactivity showed higher magnitude
of response to tactile and visual inputs. This physiologic response was shown to correspond to childrens
behavioral overreactivity to sensation. Secondary issues
arise for these children because of their atypical behavioral response to sensory input. When touch and movement are aversive for the child, typical peer interactions
and play may be difficult to establish. Their temper
tantrums or aggressive behaviors may inhibit further
positive relationships with peers. Parents also may misinterpret the childs hyperactivity, irritability, or resistance to specific activities or environments. With limited
positive social interactions, the childs social-emotional
development is at risk (Table 73-2).
ASSESSMENT
Evidence that SPD is a causative factor in a childs performance or behavior problems can be extracted from
a detailed history and parent interview. Referral to an
occupational therapist for standardized testing can confirm the diagnosis.
History
The parents history of the childs birth and developmental milestones may reveal an unremarkable birth
and typical achievement of motor milestones in the first
years of life. The parents of children with SMD often
describe them as difficult, irritable, and anxious infants.
They describe an infant with persistent sleeping and eating problems. As toddlers and preschoolers, the parents
frequently describe a defiant, irritable, stubborn or rigid
child who does not tolerate certain activities or environments and resists transitions. Sleeping and eating problems may continue into the preschool years. By asking
about antecedent factors to specific instances of sleeping
or eating problems, patterns emerge suggesting that the
childs behaviors are associated with specific sensory experiences. Parents of children with SMD often describe
a passive child who seems reluctant to try new activities
and who struggles to learn new skills.
The interview also may reveal an association between
sensory experiences and reluctance to participate, avoidance, or noncompliance. Infants who originally were resistive to touch or refused certain food textures often
become less sensitive as they mature; however, they may
maintain the negative and defiant behaviors when these
are reinforced by adult attention or parents emotional
responses. The interview may reveal that sensory processing problems in infants become behavioral problems in preschoolers that are self-sustaining because
they create multiple layers of reactions from others.
733
Behavioral Consequence
Secondary Issues
Tactile hypersensitivity
Vestibular hypersensitivity
Gustatory/olfactory
Proprioception
Tactile
Vestibular
Questions
1.Does your child have trouble understanding what other people mean when they say something?
2.Is your child bothered by any household or ordinary sounds, such as the vacuum, hair dryer, or toilet
flushing?
3.Does your child respond negatively to loud noises, as in running away, crying, or holding hands over ears?
4.Is your child distracted by sounds not usually noticed by other people?
5.Does your child seem overly sensitive to sounds?
6.Does your child gag, vomit, or complain of nausea when smelling odors such as soap, perfume, or
cleaning products?
7.Does your child like to taste nonfood items such as glue or paint?
8.Does your child gag when presented with certain foods?
9.Does your child sometimes grasp objects so tightly that they break?
10.Does your child grind his or her teeth?
11.Does your child seem driven to seek activities such as pushing, pulling, dragging, lifting, and jumping?
12.Does your child seem to exert too much pressure for a task, such as slamming doors or pressing too hard
when using pencils or crayons?
13.Does your child have difficulty positioning himself or herself in a chair?
14.Does your child bump or push other children?
15.Does your child pull away from being touched lightly?
16.Does your child seem to lack the normal awareness of being touched?
17.Does your child react negatively to the feel of new clothes?
18.Does your child show an unusual dislike for having his or her hair combed, brushed, or styled?
19.Does it bother your child to have his or her face touched or washed?
20.Does your child avoid foods of certain textures?
21.Is your child excessively fearful of movement, such as going up and down stairs, or riding swings, slides,
or other playground equipment?
22.Does your child exhibit distress when he or she is riding on moving equipment?
23.Does your child have poor balance?
24.Does your child spin and whirl his or her body more than other children?
25.Does you child rock himself or herself when stressed?
Adapted from Parham LD, Ecker C: Clinical observations of neuromotor performance, evaluation of sensory processing and touch inventory for elementary school
children. In Bundy A, Lane S, Murray E (eds): Sensory Integration Therapy and Practice. Philadelphia, FA Davis, 2002, Appendix 7-IE.
A detailed history can identify problems in sensory processing. Table 73-3 lists potential interview questions.
Examination
An in-depth examination and extensive observations
are required to analyze sensory processing problems.
Referral to an occupational therapist, particularly one
trained in administering the Sensory Integration and
Praxis Tests (Ayres, 1989), is optimal for comprehensive evaluation and intervention. Table 73-4 lists standardized assessments administered by therapists that are
helpful in confirming this diagnosis and developing an
intervention plan. The examination can include assessment of neurologic soft signs to screen for possible SPD.
Table 73-4 also lists clinical observations and neurologic
soft signs associated with each SPD.
734
Type of Instrument
Diagnostic Tests/Scales
Observation
INTERVENTION
Occupational therapists are the primary professionals to
provide services to children with SPD; referral to speech
pathology or physical therapy services may be appropriate. Services are directed to the child, the family, and
other adults who teach or care for the child. A priority
goal of intervention is to promote the childs integration
of sensation and ability to show adaptive and organized
responses to sensory input (Ayres, 2005). Equally important goals are to help the child learn to compensate
for SPD, to help parents understand and reframe the
problem, and to modify the childs environments and
routines to improve goodness-of-fit. The intervention
plan should consider the childs multiple environments
(e.g., home and school), and should emphasize caregivers understanding of the problem such that they learn
to accommodate the childs sensory needs. Optimal timing for sensory integration intervention is 2 through
7 years of age (generally SPD is not identified before age
2 years). Children may receive services beyond 7 years if
more involved, identified at an older age, or according
to the familys preference.
Children with significant SPD may receive occupational therapy services at school and in a clinic.
Generally, these services complement each other; the
school-based occupational therapist helps the teachers
and aides accommodate to the childs sensory needs
and recommends modifications to the classroom environment and routines. The clinic-based occupational
therapist has opportunities to work directly with the
child and family to improve performance and behaviors through one-on-one sensory integration treatment.
Description
Intervention takes
place in a sensoryrich environment
Just right challenge
Child achieves an
adaptive response
Active engagement
Child directed
SUMMARY
Children with SPDs present with a range of behavioral and performance consequences. Identification requires history and examination, and when suspected,
735
REFERENCES
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perceptions of sensory processing disorders among kindergarten
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Ayres J: Cluster analysis of measures of sensory integration.
Am J Occup Ther 31:362-366, 1977.
Ayres J: Sensory Integration and Praxis Tests. Los Angeles, Western
Psychological Services, 1989.
Ayres J: Sensory Integration and the Child. Los Angeles, Western
Psychological Services, 2005.
Bruininks R, Bruininks B: 2006. Bruninks Oseretsky Test of Motor
Proficiency, 2nd ed. Circle Pines, MN, AGS Publishing, 2006.
Bundy A, Koomar JA: Orchestrating intervention: The art of practice. In Bundy AC, Lane SJ, Murray EA (eds): Sensory Integration:
Theory and Practice, 2nd ed. Philadelphia, FA Davis, 2001, pp
242-259.
Case-Smith J: The effects of tactile defensiveness and tactile discrimination on in-hand manipulation. Am J Occup Ther 45:811-818, 2001.
Cohn ES: From waiting to relating: Parents experiences in the waiting
room of an occupational therapy clinic. Am J Occup Ther 55:167174, 2001a.
Cohn ES: Parent perspectives of occupational therapy using a sensory
integration approach. Am J Occup Ther 55:285-294, 2001b.
Dunn W: The Sensory Profile: Examiners Manual. San Antonio, TX,
The Psychological Corporation, 1999.
Dunn W: The sensations of everyday life: Empirical, theoretical, and
pragmatic consideration. Am J Occup Ther 44:608-620, 2001.
Henderson SE, Sugden DA: Movement Assessment Battery for Children Manual. New York, Psychological Corporation, 1992.
Koomar JA, Bundy AC: Creating direct intervention from theory. In
Bundy AC, Lane SJ, Murray EA (eds): Sensory Integration: Theory
and Practice, 2nd ed. Philadelphia, FA Davis, 2002, pp 261-308.
Levine M: Cumulative neurodevelopmental deficits: Their impact on
productivity in late middle childhood. In Levine MD, Satz P (eds):
Middle Childhood: Development and Dysfunction. Baltimore,
University Park, 1984, pp 227-243.
Levine M: Motor implementation. In Levine MD (ed): Developmental
Variation and Learning Disorders. Cambridge, Educators Publishing Service, 1987, pp 208-239.
McIntosh D, Miller LJ, Shyu V, Hagerman R: Sensory modulation
disruption, electrodermal responses, and functional behaviors. Dev
Med Child Neurol 41:608-615, 1999.
Miller-Kuhaneck H, Henry DA, Glennon TJ: Sensory Processing Measure Main Classroom Form. Los Angeles, Western Psychological
Services, 2006.
Mulligan S: Cluster analysis of scores of children on the Sensory Integration and Praxis Tests. Occup Ther J Res 20:256-270, 2000.
Ottenbacher K: Sensory integration therapy: Affect or effect? Am J
Occup Ther 36:571-579, 1982.
Parham LD, Ecker C: Clinical observations of neuromotor performance, evaluation of sensory processing and touch inventory for
elementary school children. In Bundy A, Lane S, Murray E (eds):
Sensory Integration Therapy and Practice, 2nd ed. Philadelphia,
FA Davis, 2002 Appendix 7-IE.
736
Biel L, Peske N: Raising a Sensory Smart Child: The Definitive Handbook for Helping Your Child with Sensory Integration Issues.
New York, Penguin Books, 2004.
Kranowitz CS: The Goodenoughs Get in Sync. Las Vegas, NV, Sensory
Resources, 2004.
Kranowitz CS: The Out-of-Sync Child: Recognizing and Coping with
Sensory Integration Dysfunction. New York, Penguin Group,
2005.
Kranowitz CS: The Out-of-Sync Child Has Fun: Activities for Kids
with Sensory Integration Dysfunction. New York, Penguin Group,
2006.
Miller LJ: Sensational Kids: Hope and Help for Children with Sensory
Processing Disorder. New York, Penguin Group, 2006.
SPD Network: Available at: www.SPDnetwork.org.
SPD Parent Connections: Available at: www.KIDfoundation.org/
parentconnection.
74
The medical management of a child with multiple disabilities can present a very complex and challenging set
of issues to the pediatrician. Children with multiple disabilities fall under the classification of children with special health care needs (CSHCN). The formal definition of
CSHCN adopted by the American Academy of Pediatrics
in October 1998 is as follows: Children with special
health care needs are those who have or are at increased
risk of having a chronic physical, developmental, behavioral or emotional condition and who also require health
and related services of a type or amount beyond that required by children generally(McPherson et al, 1998).
The prevalence of CSHCN is astounding. More recent figures indicate that almost 13% of children in the
United States have special health care needs (SHCN),
which corresponds to greater than 9 million children
nationwide. Approximately 20% of U.S. households
have a child with SHCN. With a problem of this magnitude, caring for CSHCN is something that all pediatricians need to grapple with on some level. It is crucial
particularly for the developmental pediatrician to establish a set of strategies and a model for how to address
the needs of a child with SHCN to create a functional
medical home for the child and family.
COMPLEXITY OF DIAGNOSES
AND MANAGEMENT
A major challenge of caring for a child with SHCN is
that the child rarely has just one problem, but more often has at least several comorbid diagnoses. More than
half of children with cerebral palsy also have cognitive
disabilities (intellectual disability). Children with cerebral palsy also may have sensory deficits, including poor
vision or hearing impairment. A child might have more
than one sensory impairment; A child with CHARGE
(coloboma, heart disease, atresia choanae, retarded
growth and retarded development, genital hypoplasia,
and ear anomalies) syndrome might have visual impairment secondary to retinal colobomas and sensorineural
hearing loss. Table 74-1 presents common associations
of comorbid conditions. The importance of understanding these associations cannot be overemphasized because
the comprehensive evaluation of the child and referral
for appropriate services are contingent on recognizing
that more than one condition may coexist.
Even more challenging than the combination of physical plus cognitive disabilities, with or without sensory impairment, is the dual diagnosis combination of cognitive
disabilities plus behavioral disorders. Children with cognitive disabilities may display various mental health issues,
including significant depression, attention-deficit/hyperactivity disorder, and obsessive-compulsive disorder, which
may be more functionally disabling than the underlying
cognitive problems. Children with intellectual disability
at the more severe end of the spectrum may present with
extremely challenging self-stimulatory and self-injurious
behaviors and significant sleep problems, which may be
amenable to medication. Finding mental health providers who are knowledgeable and skilled in the behavioral
management of and psychopharmacology for children
with intellectual
disability
is often quite difficult.
Caring for a child with SHCN and multiple disabilities
can provide great satisfaction to the pediatrician. These
are children and families who really need their health care
providers. Numerous particular issues regarding the care
of CSHCN require special mention, however. A child who
is medically fragile requires a higher level of input from
the provider. Visits often last longer, and the number of
issues that need to be dealt with at each visit are more
numerous and more complex. Children with SHCN often
require more frequent visits to the health care provider
than typical healthy children. They also require hospitalizations at a much higher rate, with admission to regular
pediatric services and to the intensive care unit. During
hospitalizations, it is often crucial for the pediatrician
who knows the child and family best to be available for
difficult discussions about end-of-life issues, or for care
conferences to help plan future medical interventions.
Care coordination is an important part of the process.
Not only are multiple lengthy visits, hospitalizations,
and care conferences time-consuming, and often difficult to schedule, but they also are poorly reimbursed.
Because many CSHCN have Medicaid insurance rather
than private payers, the reimbursement to care providers for these services is often minimal. For this reason,
many physicians make a conscious decision not to care
for patients with SHCN, often leaving families searching for providers who are knowledgeable and willing.
Although CSHCN constitute an ever-increasing proportion of hospitalized children, very few pediatric training programs in the United States offer a consistent
737
738
Etiology
Cerebral palsy
Intellectual
disability
CNS dysgenesis
Anoxic injury
CNS infection
Chromosomal/syndromic disorder
Metabolic disorder
Kernicterus
CNS dysgenesis
Anoxic injury
CNS dysgenesis (septo-optic dysplasia)
Anoxic injury
Metabolic
Stroke
Anoxic injury
Metabolic disorder
Chromosomal abnormalities
Syndromic disorders
Metabolic disorders
See above
Syndromic disorders (tuberous sclerosis or Angelman syndrome)
See above for cerebral palsy
CNS dysgenesis (septo-optic dysplasia or occipital abnormalities)
Metabolic (peroxisomal) disorders
Syndromic disorders (CHARGE or Prader-Willi syndrome)
Chromosomal abnormalities (trisomy 13 or trisomy 21)
Anoxic injury
Syndromic disorders (CHARGE or Stickler syndrome)
Chromosomal abnormalities (trisomy 13 or trisomy 21)
Anoxic injury
Metabolic
Chromosomal abnormalities (22q deletion)
Syndromic disorders (Angelman syndrome)
Metabolic disorders (Sanfilippo syndrome or Smith-Lemli-Opitz
syndrome)
Anoxic injury
CNS dysgenesis
Hearing loss
Visual loss
Seizures
Intellectual disability
Hearing loss
Behavioral disorder
ETIOLOGY
As noted earlier, children with SHCN often present
with complex and multiple concurrent problems. There
may be a clear underlying etiology to the childs issues, such as documented anoxia at birth, closed head
trauma, or a confirmed genetic disorder. Often there
is not aclear underlying etiology for the childs medical and developmental problems, however. Intellectual
disability
and cerebral palsy have multiple causes and
are clinical descriptors, but are not etiologic diagnoses.
It is crucial for the physician caring for a patient with
intellectual disability
and cerebral palsy always to ask
whether there is a known etiology for the childs medical
issues. Obstetricians have been falsely blamed for birth
injuries, when there may be clear indication of a prenatal problem or genetic disorder that is the true etiology.
Having an index of suspicion is important, especially if
there is no history of difficulty at the time of delivery,
and no neonatal respiratory or feeding issues.
Making the correct diagnosis is important for many
reasons. Certain genetic diagnoses carry with them
known associated medical problems that may develop
in the future, and having a diagnosis allows the clinician to prognosticate accurately and intervene at an
earlier stage when those problems do develop. The correct diagnosis allows for more effective and appropriate
medical interventions.
Of great importance to the families is that having a
correct underlying diagnosis allows for appropriate genetic counseling and determination of recurrence risks. It
is a tragedy for a family to have a second affected child
with special needs, who has an underlying diagnosis that
could have been prenatally detected, because no one
thought to test the older child or make a correct diagnosis in a timely way. This situation has occurred frequently
for rare autosomal recessive disorders. Even for diagnoses as common as Down syndrome or spina bifida, many
families are unaware of their recurrence risks, of available means of prenatal detection in future pregnancies, or
of the possibilities of certain interventions to reduce the
recurrence risk, such as folic acid in neural tube defects.
Chapter 74 Children with Multiple Disabilities and Special Health Care Needs
Feeding Problems
Nutritional concerns are common in CSHCN. Feeding
disorders, in which the child is unable to consume safely
and efficiently a sufficient number of calories to grow
and adequate fluid volume to maintain good hydration
status, may be due to various underlying causes, including oromotor dyscoordination, low muscle tone, and anatomic abnormalities of the palate or airway or both.
Closely following the childs growth velocity and plotting weight, height, and weight for height are important.
Children who are unable to maintain a normal growth
velocity or who fall off the curve for weight and weight
for height may require caloric supplementation. Many
formulas now are available for children who require caloric supplementation, and caloric additives can be easily
added to the childs regular feedings. The caloric needs of
a child are associated with the childs underlying developmental status and motor function. A child who is overactive, or has spasticity, may have greater caloric needs
than a severely hypotonic child who moves very little.
Plotting the growth parameters on a standard growth
curve allows the clinician to determine if the childs
particular needs are being met in an appropriate way.
Also available are specialized growth curves for children
with specific genetic diagnoses, such as Down syndrome
and achondroplasia.
739
Feeding Tubes
A variety of options are available for a child who is
unable to consume adequate calories safely by mouth.
Nasogastric Tube Feedings
Nasogastric feeds can be safely accomplished for many
weeks to months. Generally considered a short-term
option, the primary caregiver needs to be taught how
to place the tube safely into the stomach. The child may
inadvertently pull out the tube or dislodge it from an
appropriate position, requiring it to be replaced frequently, a major disadvantage to this option. Children
fed via nasogastric tube may develop significant issues
with gastroesophageal reflux disease (GERD) (see later),
which complicate this feeding route. The feeds may be
given via a bolus, or may be run in more slowly using a
feeding pump. Children with lethal diagnoses (e.g., trisomy 18 or type II osteogenesis imperfecta) and children
who are medically fragile and not surgical candidates
can be fed via nasogastric tube for months toyears.
Nasojejunal Tube Feedings
Nasojejunal feeds are a good option for children who
manifest significant GERD with nasogastric feeds. The
end of the tube is advanced past the pylorus, and the
feeding cannot be easily refluxed or vomited. A nasojejunal tube requires placement by a radiologist to ensure
correct positioning. The major disadvantage to this feeding approach is that if the tube is inadvertently pulled
out, or pulled back into the stomach, it cannot easily be
replaced. Nasojejunal feeds are given continuously using
a pump and cannot be given as a bolus because they are
given directly into the intestine. This can be an issue for
a child who cannot receive feedings at certain times (i.e.,
when at school or out at the playground).
Gastrostomy Tubes
Gastrostomy tubes require surgical placement, but when
this is accomplished, they have the advantage of staying
in position and are not routinely pulled out by the child.
Feedings can be administered either via bolus feedings
or more slowly using a pump. Feedings also can be given
as a slow drip overnight, to catch up on calories and
fluids that a child might be unable to take in during the
day. Primary caregivers require teaching to learn how to
administer the feeds, and how to care for the skin around
the tube. GERD is a common problem in children who
are tube fed (see later) and may require treatment with
740
Gastrointestinal Complications
Gastrointestinal issues are common and may significantly complicate feedings. The gastrointestinal issues
most frequently encountered are discussed.
Gastroesophageal Reflux Disease
GERD is extremely common in children with abnormal muscle tone (spasticity and hypotonia). Symptoms
include gagging, retching, and often frank vomiting. If
chronic GERD has occurred, esophagitis may develop
and cause irritability, arching with feeds, and food
refusal. The mainstay of treatment for GERD is suppression of gastric acid production. Ranitidine (Zantac)
is often helpful, but stronger agents such as proton
pump inhibitors (omeprazole [Prilosec] or lansoprazole
[Prevacid]) are often needed.
GERD may be exacerbated by poor gastrointestinal
tract motility. Several agents enhance gastrointestinal
tract motility, including metoclopramide, bethanechol,
and erythromycin. The latter two are often difficult to
titrate and may cause gastrointestinal tract upset. There
may be significant side effects with metoclopramide,
including a lowering of seizure threshold, which may
become problematic. If the GERD is severe enough to affect weight gain and quality of life of the child, and medical management is ineffective, a surgical fundoplication
may be indicated. Previously considered a major surgical
intervention, the advent of newer laparoscopic surgical
techniques has allowed this procedure to be done less
invasively. Fundoplication may worsen problems with
oral secretion management, particularly in children with
severe sialidosis (drooling). There also may be increased
retching and gagging if the wrap is too tight.
Constipation
Constipation is common in children with motor disabilities, especially children with low muscle tone. It also is
associated with spina bifida and other myelodysplasias,
Respiratory Issues
Respiratory issues also are quite common among
CSHCN. The etiologies are multiple and include abnormalities of the airway and diseases of the lung. These are
addressed separately, but it is important to realize that a
child might have more than one respiratory problem.
Chapter 74 Children with Multiple Disabilities and Special Health Care Needs
Lung Diseases
Diseases of the lung also can cause significant respiratory issues. A commonly seen problem is recurrent aspiration pneumonia in a child with feeding/swallowing
dysfunction. The child often shows increased respiratory symptoms, such as noisy breathing or coughing
in association with feedings. The right upper lobe is
particularly affected in cases of aspiration pneumonia
because of the anatomic ease of aspiration at that site.
Evaluation with a modified barium swallow, often performed by a feeding therapist along with a radiologist,
is indicated for a child who has experienced recurrent
aspiration pneumonias.
Children born prematurely also are at risk for chronic
lung disease, following issues with surfactant deficiency
at birth. Difficulty tolerating upper respiratory infections is more common in former preterm newborns, and
many of these patients require consultation by a pulmonologist and long-term therapy with bronchodilators
and inhaled steroids. Supplemental oxygen often is required in children with airway issues or chronic lung
disease and recurrent respiratory infections. Some premature infants are discharged home from the nursery
on oxygen via nasal cannula and require this for some
time after birth; this is particularly true for patients who
live at high altitude. Other patients who are successfully
weaned from oxygen therapy may require intermittent
oxygen use in association with intercurrent illness. Children with congenital heart disease also may have respiratory symptoms and issues and require diuretic treatment
in addition to pulmonary medications and oxygen.
741
(i.e., respiratory syncytial virus infection) requiring endotracheal intubation and ventilation, and then cannot be
weaned off the ventilator and extubated despite numerous
attempts. Children with muscular dystrophies, congenital
myopathies, or other neuromuscular disorders (e.g., mitochondrial myopathies) may develop severe muscular
weakness of the respiratory musculature over time, requiring tracheostomy and long-term ventilatory support.
The decision to perform a tracheostomy is a major
one, which should be made after careful consideration
of the childs medical status and prognosis. Having a
tracheostomy significantly complicates the level of home
medical care that the child requires and may lead to the
need for home nursing support. Because of the shortage
of qualified home care personnel, much of the complex
medical management for CSHCN with a tracheostomy
falls to the parents to provide. Parents need to learn how
to care for a child with a tracheostomy, including how
to suction the tracheostomy, change the tracheostomy if
necessary, and care for the skin around it. No parent is
able to provide complex medical care to his or her child
around the clock, however, every day.
Caregivers and medical providers for a child with a
tracheostomy also need to be aware of changes in respiratory status that require evaluation and treatment.
These changes include symptoms such as increased respiratory rate and work of breathing; increase in tracheostomy secretions, particularly if associated with a
change in color of secretions (green or yellow secretions
often indicate bacterial infection); cough; increased oxygen requirement; and fever. These symptoms should
prompt evaluation, including culture of tracheostomy
secretions, possible chest x-ray, and consideration of
antibiotic usage.
Other specialized equipment that may be used for
respiratory support in CSHCN are biphasic positive
airway pressure (BiPAP) and continuous positive airway pressure (CPAP). Children with upper airway obstruction that is not ameliorated by tonsillectomy and
adenoidectomy often benefit from these interventions,
which are usually worn at night during sleep. Using
positive pressure to keep the airways open can be extremely beneficial to certain children, especially children
with craniofacial anomalies causing hypoplasia of the
midface and children with neurologic issues and weakness of the respiratory muscles who cannot keep their
air passages open on their own. Use of either BiPAP or
CPAP can improve symptoms to the point that tracheostomy sometimes can be averted. The use of these interventions is limited in children who are very small, for
whom appropriately sized masks are unavailable, and in
children with significant behavioral issues, who would
not leave the mask in place.
A more recent intervention that also can be extremely
helpful is the use of a vest, which is a mechanical device
that vibrates around the thorax and helps clear secretions. This technology is now replacing, and seems more
effective than, the older practice of chest physiotherapy.
This technology has been used for many years in children with chronic respiratory diseases such as cystic
fibrosis, and more recently has become available for
CSHCN. The development of smaller, child-sized vests
742
Vignette
Timmy was born at full term by vaginal delivery,
and noted at birth to have an open L4-5 level
myelomeningocele, an enlarged head circumference,
and bilateral clubfeet. His family lived in a rural
area, and the mother had not undergone prenatal
screening. Timmy was transported to a tertiary medical
center after birth, where he underwent neurosurgical
closure of his spina bifida and placement of a
ventriculoperitoneal shunt on day 1 of life. During his
first year of life, he was healthy and fed well, although
he had trouble transitioning to table foods of higher
texture, related to Arnold-Chiari malformation. He
required serial casting and eventual surgery for his
clubfeet. At age 1 year, he presented with lethargy,
vomiting, and mild stridor. A computed tomography
scan showed ventricular enlargement and he underwent
shunt revision with resolution of his symptoms.
His developmental milestones were met except for
gross motor skills, which were delayed. He has been
receiving developmental services through his local early
intervention program, specifically physical therapy to
help him ambulate with the assistance of ankle-foot
orthoses and a walker, and occupational therapy to
address his feeding issues.
Timmy has received routine pediatric care through
his pediatrician, and attends a multidisciplinary spina
bifida clinic every few months, where he is followed
by a developmental pediatrician, neurosurgeon,
orthopedist, and urologist. Timmy has a neurogenic
bowel and bladder, has problems with chronic
constipation, and has had one urinary tract infection.
Timmys physicians, his parents, and personnel at his
school all use latex precautions. Timmys mother takes
4 mg of folic acid per day, as do her siblings, to decrease
the risk of neural tube defects in future pregnancies.
Chapter 74 Children with Multiple Disabilities and Special Health Care Needs
The child with spina bifida has often undergone multiple surgical procedures. The more common of these
procedures and the associated medical equipment are
discussed next.
Ventriculoperitoneal Shunts
Approximately 85% of children with spina bifida and
some children with other disorders, such as multiple
suture craniosynostosis syndromes, have associated hydrocephalus requiring shunt placement. Children with
severe head injuries leading to increased intracranial
pressure, premature infants with severe intraventricular
hemorrhage, and children with genetic diagnoses associated with congenital hydrocephalus, such as aqueductal stenosis, also may require shunt placement. The
most common form of shunt is the ventriculoperitoneal
shunt. This shunt consists of tubing that is inserted into
one of the lateral ventricles and is connected to a shunt
reservoir and a one-way valve, allowing cerebrospinal
fluid (CSF) to drain out of the ventricle, but not back
into the brain. The fluid runs through subcutaneous tubing, which is passed over the ribs and inserted into the
peritoneal cavity, where extra tubing is placed to allow
for growth of the patient. A more recent development
in shunt technology is the programmable shunt. This
type of shunt allows the degree of shunt drainage to be
regulated (increasing or decreasing as needed), without
requiring an additional surgical procedure.
The major complications of shunts are malfunction
and infection. The symptoms of shunt malfunction are
related to increased intracranial pressure and include severe headache, vomiting, and lethargy. In an infant, the
symptoms are often lethargy, irritability, vomiting, and
a bulging fontanelle. Shunt malfunction may be acute or
more chronic, as with a distal shunt problem, such as
blockage of the tip of the ventriculoperitoneal shunt in
the peritoneal cavity, leading to cyst formation known
as a CSF-oma. Evaluation of possible shunt malfunction generally includes a head computed tomography
scan to evaluate the size of the ventricles and may include a shunt series (x-rays to look for discontinuity in
the tubing) or an abdominal ultrasound study if a distal
shunt problem is suspected. Intermittent shunt malfunction also may occur and be associated with a worsening
in school performance or personality changes.
Shunt infection often manifests with similar symptoms
to shunt malfunction, plus fever. It is often difficult to
determine if a child with a known shunt and fever is presenting with a shunt infection or fever from some other
source. If all other sites of infection have been ruled out,
and the child is presenting with symptoms suggestive of
shunt problems, a shunt tap is indicated, with analysis of
the CSF for possible shunt infection. The CSF studies associated with shunt infection generally show a less pronounced leukocytosis and lower glucose than is associated
with meningitis. The typical bacteria causing shunt infection are skin flora, such as staphyloccocal epidermitis. The
most common time for a shunt infection to manifest is in
the several-week period following a shunt revision. Treatment of shunt infection generally requires removing the
old shunt hardware and tubing and replacing with a completely new system, after the CSF has been sterilized.
743
A special complication of shunt dysfunction in children with spina bifida must include discussion of the
associated anomaly known as Arnold-Chiari type II
malformation, which is seen in children with myelomeningocele. Arnold-Chiari type II malformation is seen
on MRI as herniation of the cerebellum and brainstem
through the foramen magnum into the upper part of
the cervical spinal canal. With an acute shunt malfunction and increased intracranial pressure, this herniation
may become more pronounced, and blood supply to this
critical region may be compromised, leading to ischemic
damage of critical structures such as the respiratory
center in the brainstem and important cranial nerves.
Ensuing vocal cord paralysis, inability to suck and swallow, and paralysis of the abducens nerve are common
in children who have a Chiari crisis. Immediate shunt
revision is indicated in such a situation, which may lead
to improvement or resolution of these symptoms. Some
children may have permanent neurologic dysfunction
following a Chiari crisis, however, necessitating tracheostomy, ventilation, and feeding tube placement.
ACE Procedure
The ACE procedure, or bringing the appendix to the surface of the abdominal wall to create a stoma through
which medication such as GoLYTELY can be administered, can be an enormously helpful procedure for children with neurogenic bowel who have severe, chronic
constipation. The typical management of neurogenic
bowel relies on the concept of controlled constipation
and normal gastrocolic reflexes to train the child to
evacuate stool on a regular schedule. Some children cannot be regulated with this minimalist approach, however,
and develop severe obstipation, which can complicate
appetite and growth, and lead to a worsening of bladder
744
Ambulation Management
Various approaches are used, depending on the motor
level of the childs spinal defect. Children with lower
lumbar and sacral level lesions often may ambulate
quite well with the use of such minimal support as
ankle-foot orthoses. Children with mid to upper level
lumbar lesions often require more support. They may
be able to ambulate for short distances with the use of
more elaborate bracing support and crutches or walkers
or both. Children with higher level lesions are typically
wheelchair ambulators. Wheelchairs may be manually
operated or power-operated. The latter provide more
independence for the patient, but are very expensive.
The need for careful measurements by trained therapists
and equipment vendors to ensure the equipment fits the
child, medical orders from the physician for these pieces
of durable medical equipment, and the necessity for insurance prior approval, may delay and complicate the
time frame between when the equipment is first recommended and when the child actually receives it.
Scoliosis Management
Scoliosis is a common complication in children with vertebral anomalies and is often progressive. In contrast to
idiopathic scoliosis, which generally starts in the teenage
years and is more common in girls, the scoliosis associated
with spinal defects may be seen at a very young age and
in boys and girls. Conservative management with physical therapy and the use of spinal orthoses such as scoli
jackets are often part of the initial management. Surgical intervention is often required, however. The rapid
progression of scoliosis in a child with spina bifida, especially if it is associated with back pain, change in bowel or
bladder function, or neurologic changes in the lower extremities, may be the result of a tethered spinal cord. This
condition may require evaluation with MRI, and treatment may require intervention from the neurosurgeon.
Precocious Puberty
Precocious puberty is increased in incidence in children
with spina bifida, up to 20% (versus 1 in 1000 incidence
in the general pediatric population). The cause of this is
unknown, although it is thought possibly to be associated with hydrocephalus, a known risk factor for precocious puberty. Endocrine evaluation and treatment with
the gonadotropin-releasing hormone antagonist leuprolide acetate (Lupron) may be indicated.
Growth Issues
There may be concerns about growth at both ends of
the spectrum in children with spina bifida. Infants have
a higher incidence of feeding problems, inability to
transition to higher levels of textured foods, and slow
growth, related to Arnold-Chiari type II malformation.
Adolescents may develop problems with obesity, related
to decreased activity level and nonambulatory status.
Nutritional consultation is often helpful in both of these
situations.
Sexuality
Children with spina bifida have unique issues related
to sexuality. Because of neurogenic bowel and bladder
issues, they are often in diapers until a much older age
than is typical. Occasional incontinence of either urine
or stool may be devastating for a teenager. In older
patients, there are other concerns. A female patient
who is insensate may require alternative measures to
achieve sexual pleasure. A male patient may be unable
to achieve erection or ejaculation. These issues often require the intervention of a urologic consultant. Latex
sensitivity may complicate the use of condoms. An individual with spina bifida has a 5% chance of having
a child with a neural tube defect, and female patients
should be offered counseling and discussion regarding
folic acid prophylaxis and prenatal testing. These are
issues that are important for the pediatrician to discuss
with adolescent patients.
SUMMARY
Caring for CSHCN and multiple disabilities requires
great dedication, compassion, and some specialized
areas of knowledge. A physician who cares for these
Chapter 74 Children with Multiple Disabilities and Special Health Care Needs
745
SUGGESTED READINGS
American Academy of Pediatrics Council on Children with Disabilities:
Care coordination in the medical home: Integrating health and related systems of care for children with special health care needs.
Pediatrics 116:1238, 2005.
Batshaw ML: Children with Disabilities. Baltimore, Brookes Publishing,
2002.
Bent N, Tennant A, Swift T, et al: Team approach versus ad hoc health
services for young people with physical disabilities: A retrospective
cohort study. Lancet 360:1280, 2002.
Berman S, Rannie M, Moore L, et al: Utilization and costs for children who have special health care needs and are enrolled in a
hospital-based comprehensive primary care clinic. Pediatrics
115:e637, 2005.
Jones KL: Smiths Recognizable Patterns of Human Malformation.
6th ed. Philadelphia, Elsevier, 2006.
McPherson M, Arango P, Fox HB, et al: A new definition of children
with special health care needs. Pediatrics 102:137, 1998.
Medical Home Initiatives for Children with Special Needs Project Advisory Committee, American Academy of Pediatrics: The
medical home. Pediatrics 110(1 Pt 1):184, 2002.
Newacheck PW, Inkelas M, Kim SE: et al: Health services use and
health care expenditures for children with disabilities. Pediatrics
114:79, 2004.
Newacheck PW, Kim SE: A national profile of health care utilization
and expenditures for children with special health care needs. Arch
Pediatr Adolesc Med 159:10, 2005.
Rosenberg RN, Prusiner SB, DiMauro S, et al: The Molecular and
Genetic Basis of Neurologic and Psychiatric Disease, 3rd ed.
Philadelphia, Butterworth Heinemann, 2003.
Rubin IL, Crocker AC: Medical Care for Children and Adults with
Developmental Disabilities, 2nd ed. Baltimore, Brookes Publishing
Co, 2006.
Van Dyck PC, Kogan MD, McPherson MG, et al: Prevalence and characteristics of children with special health care needs. Arch Pediatr
Adolesc Med 158:884, 2004.
WEB RESOURCES
American Academy of Pediatrics: Available at: www.medicalhomeinfo.
org.
National Information Center for Children and Youth with Disabilities:
Available at: www.nichcy.org.
Part IX
ASSESSMENT
75 INTERVIEWING: A CRITICAL
SKILL
Esther H. Wender
looked at the effect of interviewing style on parents satisfaction and compliance, and documented the importance of skillful interviews (Francis et al, 1969; Korsch
et al, 1968). Although speaking directly with children
is important, research has not been done on this aspect
of interviewing. Investigators such as Ginott (2003) and
Gordon (2000) have carefully evaluated childrens responses to different styles of questioning, however, and
have written extensively about the strategies that seem
most effective.
In the sections that follow, vignettes are used to illustrate strategies that enhance effective interviewing
(Table 75-1). Throughout, the term patient may refer
either to the caregiver, usually a parent, or the child or
adolescent.
748
Part IX Assessment
3. If there are multiple family members present, sufficient chairs should be obtained to accommodate all.
4. It is often helpful to have younger children present
when parents are being interviewed. If old enough
to participate, they should be in chairs alongside the
parents. If too young to participate through conversation, toys and sufficient room should be provided
for the child to play while the parent is interviewed.
The toys should be chosen carefully to prevent excited
play that would disrupt the conversation. Drawing
materials are usually a good choice.
5. When the interview is emotionally charged, such as
when giving bad news, privacy must be assured, and
tissues should be available. In a hospital setting, this
means moving to a separate room away from the
bedside.
6. Finally, distractions, such as phones ringing or people knocking on the door, should be avoided whenever possible. Beepers should be put on vibration.
Room-in-use signs should be used to prevent unnecessary intrusions from outside.
behavior, and the caregiver does not feel free to discuss the history in the childs presence. Often in
developmental-behavioral pediatrics, the sensitive history is already known to the child, however, and may be
discussed in the childs presence.
When children are able to provide meaningful information about themselvesusually about age 9 years and
olderthey should be interviewed separately as well as
in the presence of the caregiver.
Empathic Support
Empathy is based on understanding, with sincerity,
anothers feelings or ideas. This understanding can be
expressed verbally or nonverbally. Following is an example of verbal empathy: The mother of a sick child
explains that her husband was out of town when her
child became ill. The clinician notes that her eyes begin to tear and responds, You must have felt awfully
alone. One can sense that this mother will be able to
reveal much more about the childs illness following
this support. Anonverbal response might be a hand
placed briefly on the parents arm and a facial expression of concern.
Empathy must be sincere to enhance the interview.
To understand someones predicament but not feel it
emotionally is more akin to pity than to empathy. Empathy is enhanced by, but does not require, sharing the
patients experience. One young physician related that
she never felt comfortable managing child abuse cases
until, being a parent herself, she came to understand
how feelings that lead to abuse could develop even in a
loving, caring parent. A genuine curiosity about people
and a willingness to listen to their thoughts and feelings
also promotes empathic understanding.
It is important for the clinician to understand the
barriers to providing empathic support. These barriers
include being too hurried or reluctant to abandon the
formal and factual communication style learned in medical history taking. Also, clinicians may be uncomfortable
with tears and other signs of emotion that are often elicited by empathic support. The skilled interviewer must
749
Clarifying Language
A skillful interviewer learns to adapt his or her language
to a style and complexity that is familiar to the patient.
The way one talks to a college graduate who is a scientist would be different than how one speaks to a manual
laborer with little education. It also is important for the
interviewer to be aware of words that have many shades
of meaning. Words that identify behaviors or emotions
are likely to be misunderstood or may mean different
things to different people. Words such as lazy, sensitive,
spoiled, or angry should be clarified when they occur
during an interview. The interviewer may ask, for example, What do you mean by lazy? or, What makes
you think Suzie is spoiled?
In developmental-behavioral pediatrics diagnostic
terms often mean something quite different to patients
than to clinicians. It is helpful to ask patients about their
understanding of terms such as retarded, autistic,or
hyperactive.
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Part IX Assessment
Active Listening
Active listening refers to a responseusually a statement on the part of the interviewerthat indicates the
interviewer is hearing the patient and understanding the
patients feelings. This is an especially effective technique when interviewing children. Consider the following example:
Clinician: How are you feeling today?
Patient (a 10-year-old boy hospitalized with cystic
fibrosis): I dont like that new intern.
Clinician: Oh? He seems pretty nice to me.
Patient: He poked me five times to get my IV started.
Clinician: Im sure he tried his best.
Patient: They shouldnt let him start my IVs. He
doesnt know how to do it.
Clinician: I bet it really feels good when your IV gets
started right the very first time.
Patient: Yeah!
The clinicians comment to this child acknowledges
the underlying wish that procedures would go smoothly.
A simple, supportive statement, such as I know it must
hurt, would not be as effective as this more active response indicating what a good experience would be like.
Mother: I was remembering the kids last week joking around, mimicking their father being heavyhanded. Mary was joking most of all. Maybe being
strict bothers her more than we think.
During this segment of the interview, the parents
are painting an idyllic picture of Mary. The clinician
just listens and observes closely. The slight change in
the mothers expression gives a clue about an intruding thought. Commenting on the changed expression is
often all one needs to do to encourage more meaningful
information.
Remaining Patient-Centered
Physicians see themselves as givers of expert advice, and
medical training reinforces that self-image. The advicegiving role seems to be successful when the patient is accepting and compliant. Two problems develop, however,
when the physician-patient interaction is based primarily
on the giving and accepting of advice. First, patients may
question or reject the advice, but remain reluctant to do
so openly because the physician occupies a position of
superiority. Instead, the advice is rejected covertly and
is manifested in noncompliance. Second, patients may
adopt a passive role in the management of health problems and fail to contribute to their own care. It is wise to
encourage the resourcefulness and independence of parents and patients. It also is important to solicit patients
ideas about their problem and its treatment.
One technique that fosters the patients independence
is to ask for their thoughts about the nature of the
illnesswhat caused it and how it should be managed.
Two useful questions are: What did you think might
be the problem? and What did you hope to get from
this visit? The patient might respond that he or she expected the clinician to determine the nature of the problem. A response to this might be: It is my job to find
out whats wrong, but sometimes parents have a notion
about what might be the problem, and it would be helpful to know about your thoughts.
In the following example questioning the parent
about her thoughts reveals concerns often categorized
as the vulnerable child syndrome (Green and Solnit,
1964).
Mother (of a 2-year-old with fever): He became ill so
suddenly!
Clinician: He has a fever of 103F, but I dont find
any signs of bacterial infection, so it is probably a
virus.
Mother: He seems to be breathing funny.
Clinician: Ive checked his lungs and heart, and both
are okay.
Mother: Why would he get sick so quickly?
Clinician: Viruses often affect a child that way.
Mother: Are you sure there isnt any infection?
Clinician: Yes. [Pause.] What do you think might be
wrong?
Mother: He was premature and had trouble breathing in the nursery. He was so sick! They had him
on a respirator for several days. I worry so that his
lungs are weak because of that.
751
Difficult Interview
In this section, the techniques already described are
brought to bear on three of the most commonly encountered difficulties in the interview situationthe patient
who talks too much, the patient who talks too little, and
the angry patient. The patient who talks too much produces frustration because the clinician cannot control
the interview, and precious time is used in unproductive
ways. Patients who talk too little provoke the clinician
into overly dominant participation, asking more and
more questions and even suggesting responses. Most
clinicians experience the greatest difficulty, however,
in handling the angry, demanding patient. This patient
provokes the clinician into a defensive stance and feelings of irritation and anger.
752
Part IX Assessment
Reticent Patient
Talking very little also may stem from the patients long
established style or reflect psychological factors operating in the particular interview setting. The patient who
is stylistically nontalkative has a long history of poor
verbal skill. Such people may have a limited vocabulary
and difficulties with grammar and syntax. These problems may be accentuated by low self-esteem in the presence of the more verbal clinician. If style is the basis
of the reticence, the clinician should resist the natural
tendency to ask more questions and instead learn to cultivate silences punctuated by facilitative phrases, such
as, Tell me more about that. Or Whats that like
for you? Empathic statements may be helpful, such as,
Iknow this must be hard to talk about, or Its difficult to find the right words.
When reticence is due to psychological factors,the
nontalkative response is usually based on lack of
trust, especially when psychosocial information is being sought. Patients with a history of problems with
authorities are particularly likely to be distrustful and
nontalkative. Increasing trust is usually a long-term
goal, but a more immediate technique is to comment
on the style of the interview (process) as it begins to
emerge out of the content. The following interview,
with a 16-year-old boy living in a drug rehabilitation
unit, referred because of stomach pain, illustrates this
technique:
Clinician: Tell me about your stomach pain.
Patient: What do you want to know?
Clinician: When did it start? What was it like?
Patient: I dunno. Just a pain.
Clinician: Could you describe it for me?
Patient: Nothing special.
Clinician: Does anything make it better or worse?
Patient: Nope.
Clinician: Ive asked several questions and you
havent said very much. I get the feeling this pain
hasnt bothered you.
Patient: Thats right. They made me come.
When it is clear to the physician that very little information is going to be offered, it is helpful, as illustrated
here, to comment on the style of the interaction. This
boys response confirms the hunch that his reticence
is due to psychological factors. It may not be true that
he is unconcerned about his pain, but this is the stance
he has chosen to take, and the history will continue to
beunproductive unless his feelings change. Sometimes
the confrontation of a process statement improves communication because the patient, after he has asserted his
rebellion, may experience less need to maintain it.
Angry Patient
Patients who are angry seem to aim that anger at the
clinician, but frequently these patients are frustrated
by their inability to affect what is happening to them.
They may be upset with the medical problem that has
so disrupted their lives and the low income that fails to
meet their needs. The anger often provokes a defensive
response in the clinician. It is important to avoid this
defensive reaction. The most useful technique is to recognize and then identify the demand that is implicit in
the expression of anger. While the patient is talking, it
helps to ask oneself, What does this person want? and
What does he or she want from me? The following
sequence illustrates this point:
Father: This hospital is run by a bunch of incompetents.
Clinician: Whats the problem?
Father: Weve been waiting an hour. My boy is in pain
and no one seems to care. They havent even given
him any pain medicine, though I begged them to.
Clinician: I can see he is in pain. The staff has instructions not to give medicines before he is examined, and
everyone has been tied up with a very bad accident.
Father: Ive seen several people just standing around.
Someone could have called another doctor. I asked
them to.
Clinician: I came as quickly as I could.
Father: Why didnt they call someone else?
Clinician: I dont know. [Pause.] What would you
like me to do?
Father: I know its not your fault. Ive been sitting
around here fuming, and I had to get it off my chest.
Some individuals are continually frustrated by their
inability to affect what happens to them and respond
habitually by making demands of others. Such individuals are usually ineffectual and have difficulty in accepting responsibility for their own choices. Instead they
find it easier to blame their frustrations on others. The
following interview illustrates a typical situation with
this type of parent, in this case, a mother of a 6-year oldboy with school problems. Attention-deficit/hyperactivity
disorder has been diagnosed, and treatment with stimulant medication has begun.
Mother: What am I going to do when the teacher
calls and wants me to take him home because she
cant handle him?
Clinician: Hopefully the medication will help, and
that wont happen anymore.
753
Mother: It happened last week. Sometimes the medicine doesnt help enough.
Clinician: Weve talked to the school about different
methods of handling him. They will put him with
the resource teacher when he is difficult.
Mother: Yeah, but shes not any good at managing
him.
Clinician: Is there anyone at the school who you think
can handle him well?
Mother: No.
Clinician: Well, then, maybe hes better off coming
home when that happens.
Mother: But I cant be around all the time just in case
they cant manage.
Clinician: What would you like to see happen?
Mother: I dont know.
Clinician: Do you see any alternatives other than
those weve discussed?
Mother: I guess I could let the school try their plan.
In the middle of this discussion, the clinician should
sense that he is responding with suggestions that the
mother repeatedly rejects. This style is best handled by
encouraging the parent to take responsibility for developing approaches to the problem.
754
Part IX Assessment
Motivational Interviewing
Motivational interviewing is a special approach that
employs most of the techniques discussed earlier, but
also employs some special strategies. The goal of motivational interviewing is to improve adherence with behavioral change recommendations. To accomplish this
goal, motivational interviewing helps patients explore
and resolve their ambivalence about change. When the
ambivalence has been identified, the clinician and patient
explore the negative and positive aspects of behavioral
change choices made by the patient and the relationship
between proposed behavioral change and the patients
personal values (change talk). Motivational interviewing has been studied in adult populations, but has
not yet been evaluated in children, where the parents
must be the focus of the approach. The technique shows
promise, however, in addressing behavioral change in
adolescents. The interested reader should explore the
SUMMARY
The interview is described as a conversation between
clinician and patient aimed at (1) establishing a relationship, (2) collecting information, and (3) imparting
information about diagnosis and treatment. Techniques
that enhance effective interviewing include providing
a supportive setting, deciding whom tointerview, and
initiating and supporting the relationship. The relationship is enhanced by (1) empathic support, (2) repetition
and review, (3) clarifying language, (4) attending to content and process, (5) use of active listening, (6) keeping
the interview interesting, and (7) remaining patientcentered. Interviewing a difficult patient is reviewed using these relationship-enhancing techniques. Suggestions
are given on how to question effectively and how best to
impart information or advice. In addition, strategies are
described to enhance the discussion of diagnostic conclusions and treatment plans. Finally, the more recently
developed area of motivational interviewing is briefly
described.
REFERENCES
Cole SA, Bird J: The Medical Interview, 2nd ed. St. Louis, Mosby, 2005.
Francis V, Korsch BM, Morris MJ: Gaps in doctor-patient communication: Patients response to medical advice. N Engl J Med
280:535-540, 1969.
Ginott H: Between Parent and Child: The Bestselling Classic That
Revolutionized Parent-Child Communication. New York, Three
Rivers Press, 2003.
755
Gordon T: Parent Effectiveness Training: The Proven Program for Raising Responsible Children. New York, Three Rivers Press, 2000.
Green M, Solnit AJ: Reactions to the threatened loss of a child: The
vulnerable child syndrome. Pediatrics 34:58-66, 1964.
Korsch BM, Gozzi EK, Francis V: Gaps in doctor-patient communication, 1: Doctor-patient interaction and patient satisfaction. Pediatrics 42:855-871, 1968.
Miller WR, Rollnick S: Motivational Interviewing: Preparing People
for Change, 2nd ed. New York, Guilford Publications, 2002.
Mumford E, Schlesinger HJ, Glass GV: The effects of psychological
intervention on recovery from surgery and heart attacks: An analysis of the literature. Am J Public Health 72:141-151, 1982.
Rollnick SR, Mason P, Butler C: Health Behavior Change. Edinburgh,
Churchill Livingstone, 1999.
Roter DL, Hall JA, Kern DE, et al: Improving physicians interviewing
skills and reducing patients emotional distress. Arch Intern Med
155:1877-1884, 1995.
Stewart MA: Effective physician-patient communication and health
outcomes: A review. Can Med Assoc J 152:1423-1433, 1995.
GENERAL REVIEWS
Coleman WL: The interview. In Levine MD, Carey WB, Crocker AC
(eds): Developmental-Behavioral Pediatrics, 3rd ed. Philadelphia,
WB Saunders, 1999, pp 663-676.
Dixon SD, Stein MT: Encounters with Children, 4th ed. St. Louis,
Mosby, 2005.
Korsch B: Talking with Parents. In Parker S, Zuckerman B, Augustyn
M (eds). Developmental and Behavioral Pediatrics, 2nd ed.
Philadelphia, Lippincott Williams & Wilkins, 2005.
76
Vignettes
Terri
Terri is a quiet 6-year-old girl, brought by her parents to the developmental-behavioral pediatrician
because they want to know the cause of her developmental delays and unusual behaviors. She has
a history of seizures, currently well controlled on anticonvulsants. Her parents describe her as slow
to warm up, socially limited in interactions with other children, and unable to communicate fully her
needs and wants.
When the pediatrician approaches her, Terri averts her gaze and stiffens. He offers his hands and
patiently waits until the child places her hands on his. Using a calm and reassuring tone of voice, he
prepares the child for each maneuver. She gradually calms and passively allows him to complete
the examination, including an examination of her skin using a Woods lamp. He notes several small,
hypomelanotic macules with irregular borders on her trunk and lower extremities. He also notes a
smooth, firm, flesh-colored plaque over her sacrum. The parents comment that their daughter had
never before allowed a physician to complete a comprehensive physical examination.
Jason
Jason is a 10-year-old boy who has been diagnosed with attention-deficit/hyperactivity disorder,
oppositional defiant disorder, and conduct disorder. He is on multiple medications. His mother brings
him to the pediatrician, asking whether he might have bipolar disorder. When the pediatrician enters
the room, Jason and his mother are sitting on opposite sides of the room. He shoots the pediatrician
an angry stare and does not offer his hand when she offers hers for a handshake. He glowers when
she asks him questions. His mother quickly answers for him. His mother enumerates his many
behavioral difficulties and cannot identify any of Jasons assets when asked directly. After the history,
the pediatrician asks Jasons mother to go to the waiting room so that she can complete a physical
examination.
Alone with the boy, the pediatrician fails to break the ice with her usual questions. After explaining
what she will do, she begins the physical examination by first asking to see his hands. He reluctantly
complies. She then asks him to squeeze her fingers. He seems to relish squeezing them a little too
hard. She laughs, compliments his strength, and playfully asks him to stop before he breaks her
fingers. She tests strength of multiple muscle groups of the upper extremities. Jason begins to
smile, and then to laugh, as he pushes and pulls against her resistance. His expression softens. She
offers him the opportunity to listen to his heart, which he accepts and enjoys. By the time she has
completed the physical examination, the glower is gone. She repeats questions that she had asked
previously. Jason admits he is angry because his father got custody of his younger brother and
his mother got custody of him. Now, he cries, he doesnt even have his brother as a buffer from his
mother.
Developmental-behavioral diagnosis is primarily
based on history. Some professionals in developmentalbehavioral medicine, such as psychiatrists and psychologists, have largely dispensed with the physical
examination. The information obtained during a physical
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Part IX ASSESSMENT
Nevertheless, the physical examination serves as a valuable component of the diagnostic workup in developmental-behavioral pediatrics for three reasons.
First, the examination may reveal subtle or previously missed findings that provide the explanation for
a developmental disorder. In the first vignette, the
examination provided information leading to the diagnosis of tuberous sclerosis. Second, the physical examination offers the clinician an opportunity to model for
caregivers approaches that promote calmness and cooperation. In the first
vignette
, the examination showed
how an uncooperative child could be gently encouraged
to cooperate. Third, the physical examination offers an
opportunity to create an emotional connection with a
child. Particularly after the physician has obtained a
long history in which the child has been only rarely involved, the physical examination allows the clinician to
link back with the child, using a combination of physical and nonphysical means. In the second vignette
, the
examination eventually relaxed the oppositional child
and allowed him to reveal his true feelings. The response
of the child to kind and supportive interactions in such
cases provides a wealth of information, often as relevant
to diagnosis as the physical findings.
When done skillfully, the physical examination contributes to the positive relationship between clinicians,
parents, and children, increasing the chances that the
child and family will participate in treatment planning
and adhere to the management plans. The physical examination may be particularly useful for generalists and
subspecialists in evaluating new patients and evaluating
new problems in established patients.
Chapter 76 The Laying on of Hands: The Physical Examination in Developmental and Behavioral Assessment
759
BEHAVIORAL OBSERVATION
Informal and semistructured behavioral observations
during the history and physical examination are essential to the diagnostic evaluation. We carefully observe
children from the moment we first see them. We typically have toys available in the examination room. How
the child plays, the activity level of the child, and the
childs attention span may be interpreted, with some
caution, from watching the child during the visit. Although a child may play differently in the clinic than
at home, observations of unstructured play are a useful
complement to parent and teacher reports. In addition
to insights into play skills and interests, free play offers
760
Part IX ASSESSMENT
Table 76-1. Behavioral Observations of Functional Abilities, Organized According to the Domains of Activity
and Participation from the International Classification of Functioning, Disability, and Health (ICF)
ICF Domain
Preschool Children
School-Age Children
Learning and
applying knowledge
Quality of drawings
Ability to identify letters and numbers and to count
Ability to remember the name of the reflex hammer
Activity level
Degree of impulsivity
Ability to handle frustrations, such as waiting or stress,
such as an otoscopic examination
Communication
Self-care
Mobility
Interpersonal
interactions
Stressed gaits
Fine motor control
Humor
Empathy
Initiation of conversation
Response to conversation
Nature of parent-child interactions
Abnormal Findings
A set of major and minor malformations may allow for
the diagnosis of a specific syndrome, such as Down syndrome, fragile X syndrome, fetal alcohol syndrome, or
Williams syndrome. Identifying the specific syndrome in
the case of children with multiple dysmorphic features
has implications for the assessment of current functioning, prognosis, and recurrence risk in the family. Chil
dren with abnormal findings should be referred for a
comprehensive genetic evaluation. Some major and
minor dysmorphic features do not point to a specific
diagnosis, but indicate possible abnormalities of brain
morphogenesis, and have implications for developmental evaluation and prognosis (Table 76-3) (Jones, 2006).
Interpretation of any specific finding must be made carefully because many of these features occur in a small
percentage of individuals with typical development.
Chapter 76 The Laying on of Hands: The Physical Examination in Developmental and Behavioral Assessment
761
Table 76-2. Possible Diagnostic Significance of Abnormal Findings in Growth and Sexual Maturation
Abnormal Findings
Possible Significance
Calorie deficiency
Endocrine abnormality
Genetic or constitutional causes
Fragile X syndrome, Weaver syndrome, Sotos syndrome
Abnormal brain development
Abnormal brain development, autism spectrum disorder
Thyroid deficiency
Table 76-3. Nonspecific Dysmorphic Features Associated with Anomalous Brain Development
Body Part
Dysmorphic Features
Pathogenesis/Possible Significance
Cranium
Microcephaly
Asymmetry
Hair
Eyes
Ears
Mouth
Possible Significance
Tonsillar hypertrophy
Alopecia
Ecchymoses over soft tissues
Bitten nails, cuticles, calluses
Characteristic scars
Discoloration of dorsum of hand, posterior molar acid
damage, parotid hyperplasia
Findings on dermatologic examination may be indicative of various neurocutaneous syndromes. In the first
vignette
at the beginning of the chapter, the findings
are consistent with the diagnosis of tuberous sclerosis.
Many other findings on the general physical examination are pertinent to developmental assessment. Table
76-4 presents examples of such findings.
Neurologic Examination
The neurologic examination is a crucial component of
the developmental assessment because it may provide
evidence for neurologic immaturity or focal neurologic
injury. A systematic assessment of the evolution of complex reflexes can indicate neurodevelopmental delay, such
as is seen in global developmental delay, or neurodevelopmental deviance, such as is seen in cerebral palsy. A
systematic approach, as in the Milani-Comparetti Motor
Development Screening Test, evaluates the childs posture and tone in many different positions, the development of motor skills, the evolution of primitive reflexes,
and protective responses to rapid movement (Trembath
et al, 1977).
Careful examination of cranial nerve function may
help in elucidating focal lesions. Table 76-5 provides
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Part IX ASSESSMENT
Possible Significance
Vertical nystagmus
Horizontal or rotary nystagmus
Brainstem dysfunction
Congenital abnormality, vestibular abnormality, medication side
effect
Intracranial mass effect, midbrain dysfunction, optic nerve
abnormality, medication side effect
Associated with ptosis and anhydrosis: Horner syndrome
(Note: 10% of children have subtle baseline pupil asymmetry)
Impaired sympathetic innervation, myasthenia gravis, cranial nerve
III dysfunction
Upper motor neuron dysfunction, cranial nerve VII dysfunction
Cranial nerve VI dysfunction
Esophoria or exophoria
Cranial nerve VII dysfunction
Stroke
Pupil asymmetry
Ptosis
Increased width of palpebral fissure
In-turning of eye or impaired abduction
Positive cover test
Upper and lower facial weakness
Isolated lower facial weakness
Possible Significance
Neuromuscular disorders
examples of some findings on cranial nerve examination with the corresponding significance (Maria, 2005).
Clues to developmental diagnoses may be provided by
abnormalities of tone, strength, coordination, or deep
tendon reflexes. Systematic examination of each of these
features should be included in developmental assessments. Table 76-6 summarizes key findings with their
corresponding significance.
SUMMARY
Many clinicians who complete developmental and behavioral assessments of children do not perform physical examination as part of their routine diagnostic
workup. Physical examination is a valuable feature of
the developmental-behavioral evaluation. The physical
examination may uncover the cause of a developmental
or behavioral problem, allowing families to know the
reason for the disorder, the prognosis, and the recurrence risk in other family members. Parents can observe
approaches to assist their children with developmentalbehavioral problems, such as maintaining composure,
complying with requests, and responding to positive
reinforcement. In addition, the laying on of hands facilitates the creation of a relationship between the clinician
and the child. When we touch our patients, we make a
REFERENCES
Dixon SD, Stein MT: Encounters with Children: Pediatric Behavior
and Development. Philadelphia, Elsevier Science Health Science,
2006.
Holden EW, Tarnowski KJ, Prinz RJ: Reliability of neurological soft
signs in children: Re-evaluation of the panels. J Abnorm Child Psychol 10:163-172, 1983.
Jones KL: Smiths Recognizable Patterns of Human Malformation.
Philadelphia, WB Saunders, 2006.
Maria BL: Current Management in Child Neurology, 3rd ed. London,
BC Decker, 2005.
Stinnett TA, Oehler-Stinnett J, Fuqua DR, Palmer LS: Examination of
the underlying structure of the NEPSY: A developmental neuropsychological assessment. J Psychoed Assess 20:66-82, 2002.
Trembath JT, Kliewer D, Bruce W: The Milani-Comparetti Motor Development Screening Test. Omaha, NE, Media Resource Center,
C Louis Meyer Childrens Rehabilitation Institute, University of
Nebraska Medical Center, 1977.
World Health Organization: (2003). International Classification of
Functioning, Disability and Health. ICF CHECKLIST website.
Available at: http://www3.who.int/icf/checklist/icf-checklist.pdf.
Accessed November 15, 2006.
77
GENERAL PRINCIPLES OF
PSYCHOLOGICAL TESTING
Raymond Sturner
tester to evolve into a skilled evaluator. A skilled evaluator not only administers tests reliably, scores accurately, and interprets soundly, but also remains sensitive
to way the childs behavioral style or coping capacities are displayed in the nonscored aspects of the test,
such as how the child manages moments of frustration
or recognition of a previous error. In such evaluations,
aspects of child-examiner interaction become markers
of difficulties that show up in other parts of the childs
life, and may help explain key difficulties underlying
presenting concerns.
PSYCHOMETRIC CONSIDERATIONS
Psychological tests result in statistically based conclusions
about the child, and as such require an understanding
of the underlying principles of measurement, which
are briefly reviewed here. An important resource to
be considered for an in-depth and current consensus
regarding test issues is the Standards for Educational
and Psychological Testing (1999), which reflects a
consensus of expert opinion.
763
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Part IX
ASSESSMENT
In medicine and research, test results generally are communicated using the standard deviations to describe the
probability that there are statistically and clinically significant differences in any experimental testing. The interval of a standard deviation is sometimes referred to as
a Z score. A T score is the Z score expressed in a different
numerical form (10 Z + 50). A standard score refers
to a convention where a mean of 100 corresponds to a
Z score of 0 and a standard deviation of 15 is a Z score of
1. For example, an intelligence quotient (IQ) is typically
described with a mean of 100 and a standard deviation
of 15. Because these tests have been carefully designed to
generate scores on the bell-shaped curve, the implication is
that 95% of children earn scores between 70 and 130. The
approximately 2.5% of children scoring higher than 130
are considered gifted. The approximately 2.5% of children
scoring lower than 70 are considered cognitively impaired
or intellectually disabled (see Chapters 68 and 81).
In the educational field, sometimes the range of scores
is divided into nine equal intervals known as stanines
(for standard nines). Standard scores are often accompanied by a confidence interval expressed as a percent (e.g.,
90% or 95% confidence level) indicating the degree of
certainty that the individuals score reflects his or her true
ability and not just random fluctuation. Standard scores
also are accompanied by a standard score range within
which the true score is likely to fall. This score is derived
from comparison with a population of age-matched
controls from the normative sample. If a child has the
Types of Scores
Some clinical questions require comparison of how well
the child does in different areas of functioning as measured by different tests. This comparison would not make
sense if the differences between the tests were due to idiosyncrasies of test construction and scoring, rather than
to the childs performance in two different constructs of
psychological functioning. Instead, scores are created
that follow a common, normal (also known as gaussian) distribution of results as illustrated by a curve in the
shape of a bell. In Figure 77-1, the well-known bell curve
is depicted divided into equal intervalscalled standard scoresthat can be used for all tests. Choice of
metric depends on how fine a gradation in performance
variability needs to be communicated.
Percent of scores
under each portion
of the normal curve
Standard deviations
(Z scores)
0.13%
4
Standard score
(mean of 100, standard
deviation of 15)
T scores
Stanine
Percent of scores
in each stanine
Normal curve
equivalent (NCE)
2.14%
2.14%
13.5%
34.2%
55
70
85
20
30
40
34.2%
13.5%
100
115
130
145
50
60
70
80
4%
7%
12%
17%
22%
17%
12%
7%
4%
10
20
30
40
50
60
70
80
90
0.13%
4
99
Figure 77-1. Depiction of the well-known bell curve. an individuals raw score can be converted to derived scores, which compare that individuals performance to the standardization sample. This figure shows the relationship of derived scores in a normal
distribution.
same score when tested one year (e.g., 94) and again the
next year (i.e., again 94), that indicates 1 year of normal
progress, rather than lack of progress. The narrower the
interval used in the measurement, the more likely it is
to show year-to-year fluctuation. The narrowest interval
generally used to show rank order in performance is the
familiar percentile score. Although they provide a familiar perspective on rank order, percentiles are not equalinterval standard scores and cannot be arithmetically
manipulated and cannot be used to compare results of
different subtests. Normal curve equivalents are based
on percentiles, but have been statistically converted to an
equal-interval scale. Only normal curve equivalents of 1,
50, and 99 correspond directly to percentiles.
Reliability
Reliability of a test refers to the tendency for its results
to be reproducible or consistent despite artifacts of testing conditions. Being tested a second time on a different
day is called test-retest reliability. Comparison of results
from different respondents or observers is called intertester reliability. The term reliability also may refer to
the consistency of a set of items in its tendency always
to go together when the test is performed on different individuals with similar problems. This characteristic is known as internal consistency. Validity, discussed
in more depth later, refers to the accuracy with which
a test measures the intended psychological process.
A test can be perfectly reliable and consistent, but not be
a useful or valid measure of what it is intended to assess.
A test can never be valid, however, if its measurement
cannot be counted on to give consistent results.
Often a simple correlation coefficient is used to describe the extent to which the scores on one instance of
measurement predict the score on a second administration, with 0.0 showing a total lack of association and
1.0 showing perfect agreement. When reviewing these
kinds of data, one not only should look for the highest
positive number for a correlation coefficient, but also
note the statistical significance of the correlation, which
takes into account the number of subjects that were
studied and the strength of the correlation.
When internal consistency refers to how each item relates to the total overall score, it is called an item-total
correlation. This correlation is used by test developers
to decide if items are redundant. To get a general sense
of how consistent all the items intended to measure the
same concept are within the test, split-half reliability
may be calculated by randomly choosing half of the
items and determining the average correlation between
the two halves. Cronbach may be thought of as an estimate of the average of all split-half estimates of reliability. It is derived from the average inter-item correlation.
Standard error is another indicator of reliability because it expresses the range within which the real score of
a test falls. A test score of 100 with a standard error of 5
suggests that the real score lies in the range of 95 to 105.
Validity
The most important thing to know about a test is
whether it actually does what it sets out to do. At the
outset, experts may make judgments regarding test
765
TYPES OF TESTS
The choice of the type of test or other approach to
evaluation depends on the type of clinical questions being addressed. For detailed reviews of individual tests,
readers are referred to comprehensive reviews, such as
the Mental Measurements Yearbook (Spies and Plake,
2005), the Handbook of Psychiatric Measures (Rush
et al, 2000), and childrens psychological Testing
(Wodrich, 1997). Two major categories of tests to consider are norm referenced and criterion referenced.
766
Part IX
ASSESSMENT
Adaptive Behavior
According to the American Association for Individuals
with Developmental Disabilities 2002 definition, limitations in adaptive behavior should be determined using
measures standardized in the general population and
disabled individuals. Limitations in adaptive behavior
are operationally defined as performance that is at
least 2 standard deviations below the mean of either (a)
one of the following three types of adaptive behavior:
conceptual, social, or practical, or (b) an overall score
on a standardized measure of conceptual, social, and
practical skills (American Association for Individuals with Developmental Disabilities). Conceptual skills
include receptive and expressive language, reading and
writing, money concepts, and self-directions. Social
skills include interpersonal, responsibility, self-esteem,
gullibility, naivet, follows rules, obeys laws, and avoids
victimization. Practical skills include activities of daily
living, occupational skills, and maintaining a safe environment. The Vineland Adaptive Behavior Scales
Revised may be the most popular adaptive behavior
measure. It is based on a large national normative
sample, uses an interview format, and has a teacher
evaluation version.
Problems of available adaptive measures include limited usefulness in planning interventions for children
(Reschly and Gresham, 1988); reliance on third-party
report, rather than direct observation over various settings and samples of time; and scoring based on typical performance, rather than peak performance, which
might be a better reflection of the childs potential
(Reschly and Gresham, 1988). These issues should still
be considered especially when there is a question regarding the reliability of the observer and are required for
diagnosis of intellectual disability.
767
environment of family and childcare or school. This assessment is especially necessary to get a closer look at the
how the child accomplishes activities of everyday living
and potential strategies for integrating intervention goals
into daily routines. This assessment can be done with an
assessor who shadows the child through part of a typical day aided by a standardized approach for documenting
progress. (see Murphy, 1987, for a review of this approach.) The Pediatric Evaluation of Disability Inventory
(PEDI), a functional measure, is an example of such a test
covering ages 6 months through 7 years and including a
Level of Caregiver Assistance and Modifications subtests.
The Toddler and Infant Motor Evaluation (TIME) for
children 4 months to 3 1/2 years old contains scales that
document not only the motor activities the child can accomplish, but also how the child does it. This differentiates
normal from atypical motor patterns and motor responses
the child may accomplish with examiner-prompted,
parent-facilitated or aide-facilitated movements.
The Leiter International Performance Scale is an important measure that has long been available to assess
cognitive abilities in children (ages 2 through 21 years)
with motor impairments, nonverbal hearing-impaired
children, and children who are nonEnglish speaking.
This test allows children to illustrate their understanding of concepts through a series of matching tasks that
can be responded to in various ways, including directing
eye gaze. This test was first devised in the 1930s, but
was revised and renormed in 1995.
Neuropsychologic Testing
Child neuropsychologic tests have clinical utility in situations where it is important to understand the childs
level of functioning in a wide range of domains, such
as memory, reasoning, attention, and language. Sophisticated neuroimaging techniques do not yet reveal
the impact on functioning determined through neuropsychologic testing. Questions that might be addressed
include: Does the child show signs of brain injury after a known trauma? How might a child be affected by
brain surgery? How can we monitor the progress of a
child who has sustained a known brain injury? Does the
child have evidence for a nonverbal learning disorder
(a sometimes subtle condition with implications for
learning and social functioning)?
A few neuropsychologic tests are commonly used
and warrant mention. The Halstead-Reitan (covering
ages 9 to 14 years) and the Reitan-Indiana (ages 5 to 6
years) Neuropsychological Test Batteries for Children
and Older Children were refined from studies on adult
patients known to have sustained brain injuries. Some
additional unique subtests were developed to assess
children. These tests include subtests that assess abstract
reasoning, conceptual ability, and language resembling traditional IQ tests, but have a greater emphasis
on subtests that emphasize motor speed and strength,
sensory awareness of bilateral and pattern recognition,
attention, laterality, and perceptual skills. The specific
items have been designed to capture distinct syndromes
of brain dysfunction. Patterns of performance have implications for localization of brain lesions and some
pathognomonic signs, rare signs, and symptoms that
768
Part IX
ASSESSMENT
Sampling System, used in some preschool and elementary schools (Meisels et al, 2001) (see also Chapter 82).
Measures of Attention
Although the DSM-IV-TR (Diagnostic and Statistical
Manual of Mental Disorders, 4th edition, Text Revision)
criteria for ADHD make no mention of psychological
test performance, many well-standardized parent and
teacher questionnaire measures are available to aid in
this diagnosis. The most useful child-administered tests
for diagnosis are cognitive and achievement screening
or diagnostic tests to determine the presence of learning
problems as a cause or result of inattentiveness.
Clinicians continue to attempt to diagnose ADHD by
direct testing of children. One approach has been to look
for patterns within intelligence test performance. In particular, it was suggested that children with ADHD had
more difficulty on three particular subtests (Arithmetic,
Digit Span, and Coding), so these subtests were averaged to create a Freedom from Distractibility index.
Numerous studies (Kaufman, 1994) show, however,
that this was not an accurate way to diagnose ADHD
as is the case with other psychological test measures of
executive functioning (Barkley and Grodzinsky, 1994).
Another approach that has been attempted to diagnose ADHD is the use of tests of vigilance and impulse
control, putative psychological processes underlying the
disorder. Continuous performance tests require that the
child focus attention in a laboratory-type setting for a
period of time on an auditory or visual stimulus with
occasional interruptions and background stimuli. The
child has specific instructions about when to push the
button, and the distractors may result in errors of commission or omission, which can be compared with established norms. Examples of continuous performance
tests include the Gordon Diagnostic System, Test of
Variables of Attention (TOVA), and the Conners Continuous Performance Test. These tests do not adequately
differentiate the performance of children with ADHD
from that of controls. They may not add significantly
to the diagnostic process because ADHD is a clinical
phenomenon, with multiple and diverse underlying psychological processes, many of which depend on specific
environmental conditions and contextual expectations
(see Chapter 54).
Projective Tests
In contrast to the previously described tests, projective
measures are not primarily based on norm-referenced
empiric research, but rather on a hypothesis that an
individual will project his or her feelings, thoughts,
needs, attitudes, and conflicts onto an ambiguous stimulus. Some popular projective measures include Rorschach inkblot technique, in which individuals tell what
they see in a standard inkblot; thematic apperception
tests, in which children make up stories about standard pictures illustrating people interacting; incomplete
sentences, in which children complete brief standard
sentence fragments covering latent themes; and drawing techniques, in which children are asked to draw a
person, family members, or a house, tree, and person
together. These techniques all have the advantage of
769
SUMMARY
Administering, obtaining, and interpreting psychological testing are important components of general and
developmental-behavioral subspecialty clinical practice.
Psychological testing represents an important approach
for the field of developmental-behavioral pediatrics to
ensure that a standardized, reproducible, and scientific
basis is built into clinical practice. Appropriate use of
a test requires attention to its psychometric properties,
including reliability, validity, sensitivity, and specificity.
Psychological tests are now available to address almost
all developmental-behavioral clinical issues, including
intelligence, learning, communication, motor skills, selfhelp skills, behavioral adjustment, temperament, and
other adaptive functions.
REFERENCES
American Association on Intellectual and Developmental Disabilities:
Available at: http://www.aaidd.org/. Accessed October 26, 2008.
American Educational Research Association, American Psychological Association, National Council on Measurement in Education:
Standards for Educational and Psychological Testing. Washington,
DC, American Educational Research Association, 1999.
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR).
Arlington, VA, American Psychiatric Association, 2000.
Barkley RA, Grodzinsky GM: Are tests of frontal lobe functions
useful in the diagnosis of attention deficit disorders? Clin
Neuropsychologist 8:121-139, 1994.
Gardner H: Frames of Mind: The Theory of Multiple Intelligences.
New York, Basic Books, 1983.
Kaufman AS: Intelligent Testing with the WISC-III. New York, John
Wiley & Sons, 1994.
Meisels SJ, Fenichel E: New Visions for the Developmental Assessment
of Infants and Young Children. Washington, DC, Zero to Three
Press, 1996.
Meisels SJ, Jablon JR, Marsden DB, et al: The Work Sampling System.
New York, Pearson Early Learning, 2001.
Murphy G: Direct observation as an assessment tool in functional
analysis and treatment. In Hogg J, Raynes N: Assessment in Mental
Handicap. Cambridge, MA, Croom Helm Ltd, 1987, pp 190-238.
Reschly DJ, Gresham FM: Adaptive behavior and the mildly
handicapped. In Kratochwill RR (ed): Advances in School
Psychology, Vol 4. Hillsdale, NJ, Erlbaum, 1988, pp 249-282.
Rogers R: Handbook of Diagnostic and Structured Interviewing. New
York, Guilford Press, 2001.
Rush AJ, Pincus HA, First MB, (eds): Handbook of Psychiatric Measures.
Washington, DC, American Psychiatric Association, 2000.
Sattler JM: Assessment of Childrens Intelligence and Special Abilities,
4th ed.San Diego, Jerome M. Sattler Publisher, 2001.
Spies RA, Plake BS: Mental Measurements Yearbook, 16th ed.
Lincoln, University of Nebraska Press, 2005.
Wodrich DL: Childrens Psychological Testing, 3rd ed. Baltimore,
Paul Brooks Publishing, 1997.
78
ASSESSMENT OF BEHAVIORAL
ADJUSTMENT AND
BEHAVIORAL STYLE
William B. Carey
BEHAVIORAL ADJUSTMENT
Challenge and Obstacles
The proficient evaluation by the pediatrician of behavior in children is a complex challenge. Much is expected
of the pediatrician. Ideally, every comprehensive pediatric appraisal and especially every investigation of a specific problem with possible developmental-behavioral
components, such as headaches or scholastic difficulties,
should include a clear picture of the childs behavioral
adjustment pattern; the physical, developmental, temperamental, and environmental factors interacting with
them; and a plan for possible alteration of these factors
for the benefit of the child. An astute clinician should
have the childs development and behavior in mind in
every encounter. Besides well-developed interviewing
and counseling skills, this expectation presumes an understanding of whether specific behaviors are normal,
and, if not normal, a judgment as to how severe they
are, why they have developed, and what to do about
them. These objectives represent a major shift for the
practice of pediatrics, which emerged a century ago
as the subdivision of medical science dealing with the
nutritional and growth problems and physical diseases
then prominent in childhood.
772
Part IX Assessment
773
774
Part IX Assessment
Diagnostic Techniques
The usual techniques for obtaining data about childrens
behavioral adjustment to be incorporated into whatever
classification system is used are observations, questionnaires, and interviews. Observations of the childs
behavior and of the parent-child interaction in the office setting can be highly illuminating to the diagnostic
process. These data are usually based on relatively brief
contacts, however, and might be atypical of the overall
picture. Long-term observations reported by teachers
and other caregivers can be more helpful. The physicians own observations can confirm or raise doubts
about the history, but are seldom sufficient to replace
the history as the basis of the diagnosis.
Questionnaires concerning the childs behavior can
make a useful contribution to the diagnosis if they are
descriptive and are used as part of the data-gathering
process, rather than by themselves as an oversimplified
diagnostic mechanism.
Interviewing is the pediatricians most powerful tool
for the assessment of behavior in children. No other
technique has the flexibility and subtlety of skillfully
allowing the parent or patient to describe and express
feelings about what is going on.
The two principal techniques for gathering diagnostic
information about behavior in common usage today are
(1) brief questionnaires for screening for psychopathology for the purpose of referral or longer ones for greater
detail, and (2) a comprehensive pediatric assessment primarily by interview that allows and promotes pediatric
management for most parental concerns about behavior.
775
Behavior
, Social
Competence
Relationships with
People:
How Well Does Child Get Along with People?
a) Excellent achievement
b) Good achievement
c) Average, satisfactory achievement
d) Underachievement, not failing; excessive striving
e) Poor achievement, failing; truancy
Comments:
a) Excellent self-esteem, self-care, and self-regulation
b) Good status in these areas
c) Variable, average status
d) Below average in some of these matters
e) Poor; problems in some or all these areas
Comments:
a) High but reasonable contentment
b) Comfortable feelings and thinking
c) Average mixture of concerns
d)Unsatisfactory; disturbing but not crippling feelings of fear,
anxiety, depression, anger, guilt; or reality distortions,
phobias, obsessions, compulsions, delusions; post-traumatic
stress disorder
e) Poor; major disturbance of feelings or thinking
Comments:
a) Highly effective coping
b) Generally effective coping
c) Satisfactory; average; variable
d) Unsatisfactory coping
e) Poor problem solving; excessive use of defensive strategies,
such as denial, giving up
Comments:
General Assessment
776
Part IX Assessment
(1997). Some screening scales requiring more time include the Child Behavior Checklist (Achenbach and
Edelbrock, 1983), Behavior Assessment System for
Children (BASC) (Reynolds and Kamphaus, 1992),
Brief Infant-Toddler Social and Emotional Scale
(BITSEA) (Briggs-Gowen et al, 2004), Ages and Stages
Questionnaire: Social Emotional (ASQ:SE) (Squires
et al, 2002), Devereux Early Childhood Assessment
Program (DECA) (LeBuffe and Naglieri, 1999), and
Vineland Socio-Emotional Early Childhood Scale
(Sparrow et al, 1998).
Some additional scales are designed to evaluate specific areas of function, such as coping, self-esteem, or
social skills or of malfunction, such as depression, inattention, or autism. The reader is directed to specific
chapters addressing these matters for more extensive
information. The question of the accuracy and ethics of
screening all teenagers with a brief questionnaire to discover early signs of depression is discussed elsewhere.
The proposed advantages of these behavioral rating
scales are as follows:
1. They gather information from the informants with
the greatest experience with the child.
2. They include some behavior not likely to be observed
by the clinician, such as sleep.
3. They are inexpensive and efficient.
4. Some available normative data allow determinations
of deviations.
5. They provide quantitative assessments concerning
qualitative aspects of behavior.
Perhaps the most important use of such a screening
scale by a pediatrician may be to facilitate communication between the physician and the parent or teacher, in
that it indicates the physicians concern for behavioral
issues and promotes discussion of them. Despite their
value in psychiatric research and practice, however, these
questionnaires all have significant problems that interfere
with their use in pediatric primary care, as follows:
1. The data produced are of little assistance in the identification and management of the common behavioral concerns parents bring to pediatricians, such
as sibling quarrels and resistance to toilet training.
Screening and referral for major behavioral problems
is only a small part of the appropriate mental health
role of the pediatrician.
2. Although various claims are made of their psychometric qualifications, no proof has been offered that
these questionnaires detect important abnormalities
any better than do a few appropriately phrased and
directed interview questions, or that they result in an
improvement in physician performance (Stancin and
Palermo, 1997). The true efficiency of these scales in
pediatric practice remains to be shown.
3. With rare exceptions, the available scales rate only
abnormalities and do not evaluate positive evidence
of behavioral adjustment, such as social competence
or self-esteem. The few questionnaires that evaluate
positive aspects include the Strengths and Difficulties
Questionnaire (Goodman, 2001) and Behavior and
Diagnostic Procedure
This chapter urges the view that pediatricians should
make use of a comprehensive child health profile, such
as the one outlined in this chapter, and that the best way
to obtain the necessary data is by parent interview as
supplemented with interview data from others, observations, and appropriate information from questionnaires.
Before undertaking the actual assessment of the behavioral adjustment, the clinician is well advised to take
two preliminary steps: defining the concern and clarifying the goals (Fig. 78-1).
CLARIFY GOALS
Help wanted? What kind? How much?
Yes
No
Serious?
Yes
Serious?
Moderate?
No
Minor
management
No
Evaluate
Evaluate interaction
temperament & with other factors:
interaction
physical, cognitive,
environmental
MANAGEMENT
Mental health
specialist
referral
Express concern
Offer other care
Monitor
Yes or maybe
Evaluate
Medical management
Educational planning
Minor?
No
Intervention on behalf
of child
777
STRESS FROM
TEMPERAMENTENVIRONMENTAL
INTERACTIONS
A) Social reaction style:
adapt, mood, approach
B) Work style: attention,
persistence, distractability,
activity
C) Situational reaction
style: sensitivity, intensity
1) Recognize problem
2) Reorganize parental
understanding, management
3) Relief for caregivers
PARENTAL
MISPERCEPTION
Inexperience?
Or parental
problem?
For inexperience
information.
Counsel or refer for
parental problems.
Figure 78-1. Algorithm for management of parental concerns about a childs behavior.
778
Part IX Assessment
779
Interviews
The best-known interview technique for obtaining temperament data is the one devised more than 50 years ago
by the New York Longitudinal Study by Thomas and
colleagues (see Chapter 7). Although this interview was
sufficient for the needs of the New York Longitudinal
Study, neither it nor any adaptation of it has found wide
usage in research or clinical practice (Chess and Thomas,
1996). Its flexibility makes it more sensitive to varying
situations, but it also is less capable of standardization.
Its length of 1 to 2 hours (plus 1 hours for dictation
and rating) allows great richness of detail to be developed in behavioral descriptions, but renders it impractical in any clinical and most research settings.
Nevertheless, clinicians can and often do use these
concepts in a much abbreviated form in practical situations. A much shortened interview of the clinicians
own construction can yield usable data as long as the
clinician resists the temptation to generalize too readily
from insufficiently comprehensive descriptions, such as
just one instance of a trait. A parental impression of a
trait should be supported by illustrations in several settings. Table 78-2 presents suggested areas of function
to investigate. The interview approach, adapted to the
particular needs of the occasion, is the most convenient
way to screen routinely for a poor fit or to obtain abbreviated temperament data when there is no need for a
more detailed analysis (Carey and McDevitt, 1995).
Observations
Daycare workers and teachers generally have extensive
contact with children, placing them in a good position
to form sound judgments of individual children. Pediatricians should make use of their contributions. Primary
care clinicians usually witness only brief, sometimes
atypical samples of behavior. There is still no standardized comprehensive observation technique for assessing
780
Part IX Assessment
Name of child:
Age:
Date:
Professional rater:
Parental informant:
ActivityAmount
of Physical Motion
High
Medium
Low
During sleep
During meals
During play
During car ride
During dressing
Rate of eating
While waiting
Going up, down stairs
Walking with family
Listening to music
Watching TV
Entering, leaving
house
Talking with parents
AdaptabilityFlexibility,
Ease of Adjustment to
Change
Medium Irregularity ? B
Sleeping times
Hunger times
Amount eaten
Food choices
Response to
parent
Bowel habits
Play schedule
Doing chores
Doing homework
Care of
possessions
Order in own
room
Keep
appointments
Hunger
Pain
Happiness
Anger
Surprise
Scolding
Disappointment
Praise
Likes and dislikes
Teasing
Disapproval
Discovery
New foods
New sitter
New place
New clothes
Visitors in home
Strangers
elsewhere
Unfamiliar
children
New toy, game
New group activity
Arrival social
event
New situation
Rhythmicity,
Predictability
Physical and
BehavioralRegularity
Regularity
IntensityEnergy
of Responses to
Approach/WithdrawalInitial
Reaction to
Novelty
Intense
Medium
Mild
High
Medium
Low
Distractibility
How Easily
External Stimuli
Affect Activities
Soothability during
pain or fear
While playing alone
Playing with friends
Household noises
Somebody walks by
By TV when reading
By conversation
when reading
Distractible
NondisMedium tractible
781
Sensory Threshold
Sensitivity to Stimuli,
Notices
Positive Medium Negative ?
On awakening
At bedtime
When tired
When hungry
During, after meals
Frustrated
Sick or injured
When corrected
During play
Asked to do chores
During chores
Denied permission
New visitors in home
Persistence/
Attention
SpanHow
Long Activities
Pursued
High
Medium Low
Changes in taste
Changes in lighting
Changes in sound
Water temperature
Room temperature
Texture of clothes
Odors
Soiled diapers
Soiled clothes
Minor injuries
Mild parental
disapproval
Comments-
Practice physical
activity
Interest in new
toy
Look at, read
book
Watch TV
Learning special
skill
Listening to
parent
Household
chores
Work on own
project
Doing homework
Care of pet,
garden
Difficult project
Resume task after
interruption
Resume play after
interruption
782
Part IX Assessment
8-12 yr
13-17 yr
18-60 yr
Name of Test
Authors
No. Items
Retest
Reliability
Alpha
References
Medoff-Cooper et al
76
0.69m
0.62m
95
0.86t
0.83t
Fullard et al
97
0.88t
0.85t
Thomas et al
72
NA
NA
Teacher Temperament
Questionnaire
Thomas et al
64
NA
NA
Teacher Temperament
Questionnaire short form
Behavioral Style
Questionnaire (BSQ)
Temperament Assessment
Battery for Children
Keogh et al
23
0.69-0.88
NA
100
0.89t
0.84t
Martin
48
0.53-0.81
0.6-0.9
Middle Childhood
Temperament
Questionnaire (MCTQ)
Adolescent Temperament
Questionnaire
Adult Temperament
Questionnaire
Hegvik et al
99
0.87m
0.82m
McDevitt and
Shacknai
Chess and Thomas
NA
NA
NA
In press
54
0.76m
0.82m
Behavioral-Developmental
Initiatives, 1998
Early Infancy
Temperament
Questionnaire (EITQ)
Revised Infant Temperament
Questionnaire (RITQ)
Toddler Temperament
Scale (TTS)
Parent Temperament
Questionnaire for Children
Other Principal Questionnaires Generally not Using New York Longitudinal Study Dimensions
Colorado Childhood Temperament Inventory (CCTI)
Infant Characteristics Questionnaire (ICQ)
Infant Behavior Questionnaire (IBQ)
Reactivity Rating Scale (RRS)
Emotionality, Activity, and Sociability Scale (EAS)
Dimensions of Temperament Survey (DOTS)
Toddler Behavior Assessment Questionnaire (TBAQ)
Childrens Behavior Questionnaire (CBQ)
School Age Temperament Inventory (SATI)
Infant, Toddler, and Preschooler Questionnaires
Temperament and Atypical Behavior Scale
*Retest
reliability and internal consistency (alpha) are given as median category (m) or total (t) values.
for research rather than for clinical use.
NA, data not available.
The EITQ, RITQ, TTS, BSQ, MCTQ, Adolescent and Adult Questionnaires, and scoring software may be obtained through Behavioral-Developmental Initiatives
(B-DI), 14636 North 55th Street, Scottsdale, AZ, 85254. Telephone 800-405-2313. Web address: www.b-di.com. Online assessment of patients can be approved by
registering at www.ipasscode.com/register.
Primarily
Questionnaires
With the increased recognition of the theoretical and clinical importance of temperament, and the lack of practical
ways of measuring it accurately by interview or observations, a series of parent and teacher questionnaires has
been developed. Table 78-3 lists a selection of the currently available scales. Most are intended for completion
by parents, but some are designed for ratings by teachers,
including the Temperament Assessment Battery for Children by Martin (1988). Table 78-3 does not include
(1) scales based only on observations, such as those by
Matheny or Brazelton; (2) techniques possibly assessing
temperament, but ostensibly measuring something else,
such as the Conners Parent and Teacher Rating Scales;
(3) scales in foreign languages; (4) unpublished scales;
and (5) earlier scales intended primarily for adults such as
those by Eysenck in 1956, Guilford and Zimmerman in
1956, Thorndike in 1963, and Strelau in 1972.
Sample items from a scale based on the New York
Longitudinal Study view, the MCTQ, are (1) Runs to
783
SUMMARY
Many pediatricians are unsure about how best to
evaluate the behavior of their patients. For assessment of
behavioral adjustment, this chapter does not encourage
the use of screening checklists designed simply to select
children for referrals, and it does not support the exclusive use of the categorical pathology diagnostic model.
Instead, it recommends a primary reliance on interviewing of the parent directed toward constructing a comprehensive descriptive behavioral profile with a limited use
of labels. For determinations of temperament in routine
care, a few interview questions generally are sufficient,
but in case of parental concern, a standardized questionnaire provides a fuller picture of the childs contribution to the interaction. This enhanced evaluation puts
pediatricians in a better position to fulfill their expected
role in dealing appropriately with parental concerns,
most of which do not need referral.
ACKNOWLEDGMENTS
My thanks to my colleague, Sean C. McDevitt, Ph.D.,
of Scottsdale, Arizona, for his helpful critical review if
this chapter.
784
Part IX Assessment
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University of Vermont, Department of Psychiatry, 1983.
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American Psychiatric Association: Diagnostic and Statistical Manual
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Brazelton TB: Neonatal Behavioral Assessment Scale. Philadelphia, JB
Lippincott, 1973 [Revised version published as Lester B, Tronick E:
The Neonatal Intensive Care Unit Network Neurobehavioral Scale
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Briggs-Gowen MJ, Carter AQS, Irwin JR, et al: The Brief InfantToddler Social and Emotional Assessment: Screening for SocialEmotional Problems and Delays in Competence. J Pediatr Psychol
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Carey WB: Some pitfalls in infant temperament research. Infant Behav
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Carey WB, Jablow M: Understanding Your Childs Temperament.
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Carey WB, McDevitt SC: Coping with Childrens Temperament. New
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Carey WB, McDevitt SC: The BASICS Behavioral Adjustment Scale.
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Chess S, Thomas A: Temperament in Clinical Practice. New York,
Guilford, 1986.
Chess S, Thomas A: Know Your Child. New York, Basic Books, 1987
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Brunner-Mazel, 1996.
Comfort M, Gordon PR, Unger DG: The Keys to Interactive Parenting
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Costello EJ: Primary care pediatrics and child psychopathology:
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Epstein MH, Sharma JM: Behavior and Emotional Rating Scale:
A Strength-Based Approach to Assessment. Austin, TX, Pro-Ed,
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Eyberg SM, Ross AW: Assessment of child behavior problems: The
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Goyette CH, Conners CK, Ulrich RF: Normative data on revised Conners parent and teacher rating scales. J Abnorm Child Psychol
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Horowitz SM, Leaf PJ, Leventhal JM, et al: Identification and management of psychosocial and developmental problems in communitybased, primary care pediatric practices. Pediatrics 89:480, 1992.
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Jensen PS, Knapp P, Mrazek DA: Toward a New Diagnostic System
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Keogh BK: Temperament in the Classroom. Baltimore, Brookes,
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Parents Evaluations of Developmental Status (PEDS). Nashville,
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Squires J, Bricker D, Twombly E: Ages and Stages Questionnaires:
Social-Emotional. Baltimore, Brookes, 2002.
Stancin T, Palermo T: A review of behavioral screening practices
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Wamboldt MZ, Wamboldt FS, Gavin L, et al: A parent-child relationship scale derived from the Child and Adolescent Psychiatric
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Wissow LS, Roter DL, Wilson MEH: Pediatrician interview style
and mothers disclosure of psychosocial issues. Pediatrics 93:289,
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79
DEVELOPMENTAL
SCREENING AND
ASSESSMENT: INFANTS,
TODDLERS, AND
PRESCHOOLERS
Martin T. Stein and Meghan Korey Lukasik
The fundamental principles of pediatrics can be conceptualized as promotion of optimal physical and psychological health, monitoring developmental maturation,
and effective use of the therapeutic relationship that
evolves over time. These three core concepts converge in
pediatric practice many times each day during the process of developmental screening.
Developmental screening refers to the process of
monitoring the maturation of the central nervous system
as the environment influences brain maturation. Motor,
language, social, and cognitive skills are documented
at a particular age and compared with the range of expected maturation. Early recognition of the importance
of developmental screening has its roots in the work of
Gesell, who developed a neuromaturational model for
clinical ascertainment of emerging skills. Although Gesell
viewedmaturation as primarily biologic, more recent
research supports the continuous interaction between a
childs social, physical, and emotional environment and
brain maturation (see Chapter 8). Synaptogenesis and
pruning is the process of forming new neuron connections and the loss of other neuronal connections that
constructs the brains architecture, especially in early
childhood. It is a product of interactions between a
childs experiences and genetic endowment.
DEVELOPMENTAL SURVEILLANCE,
DEVELOPMENTAL SCREENING,
AND DEVELOPMENTAL ASSESSMENT
Surveillance, screening, and assessment are different
methods used by clinicians to understand the development of children. Developmental surveillance is a flexible, longitudinal, continuous, and cumulative process
whereby a clinician identifies a child who may be at
risk for developmental delays or may have developmental problems (American Academy of Pediatrics, 2006;
Dworkin, 1989). To achieve effective surveillance,
a pediatrician thinks about a childs development at
each clinical encounter. The focus of surveillance is
on supporting healthy development, providing parent
786
Part IX ASSESSMENT
during an encounter that monitors early child development includes the following components:
1. Establishing the agenda: What concerns to you have
about your child?
2. Open-ended questions: What changes have you seen
in your childs development since the last visit?
3. Close-ended questions: Tell me about how your
child is talkingwhat words does your child use?
4. Pauses and silent periods allow the parent to collect
thought and express feelings.
5. Repetition of important phrases encourages further
exploration and clarification: Tell me more about
that.
6. Active listening involves undivided attention to what
the parent is saying through the clinicians words and
body (nonverbal) language.
7. Communication of trust and respect includes sensitive awareness of parents needs, expectations, and
concerns, and their resources and limitations.
8. Time with the patient will remain the currency of
medical care.
(Eisenberg
L: Personal communication, 2002)
Developmental surveillance may occur during a wellchild visit, an illness visit, when monitoring a chronic
physical condition, in the hospital or emergency department, and even when talking to a parent on the telephone. There are numerous opportunities in the work of
a primary care clinician that should encourage effective
surveillance for developmental monitoring or the determination of a potential problem (Table 79-1).
An alternative method of developmental surveillance
is the use of a developmental theme for each well-child
visit (Dixon and Stein, 2006). Rapid changes in neurodevelopmental capacities and behavior during childhood allow clinicians an opportunity to conceptualize a
unique developmental or behavioral theme at each wellchild visit. Recognizing that a child evolves along several
dimensions at any one time, specific strands of development emerge as prominent at particular, predictable
times. The clinical relevance of a topic at a moment in
time allows the clinician to review the full range of a developmental theme at a particular age. In this way, each
visit opens up new information and perspective at a time
when a particular theme is important to a family and
easy to see in a child. When the focus is on a specific developmental theme, the clinician is ready to take on concerns, problems, deviations from typical development,
and the issues of children in unusual circumstances.
Using this method of surveillance, questions to parents
and children, clinical observations, physical and neurodevelopmental examinations, and anticipatory guidance
may be guided by the developmental-behavioral theme.
In this way, surveillance for age-expected milestones
can be monitored in a broader context. Through focused observations, questions, and a few interactions, a
child can teach us what we need to know. These clinical
probes allow easy access to understanding what a child
and family is about. It is the children that allow pediatric clinicians to practice this form of developmental
surveillance.
787
Table 79-1. Examples of Opportunities for Developmental Surveillance in Primary Care Pediatrics
Presentation
The parent of a thriving 6-month-old infant is asked, Does he reach out for things?
Following a positive response, the pediatrician asks, Does he prefer one hand over
the other? The mother responds, Yes, he seems to use his left hand more
The parent of an 18-month old toddler, who was observed to walk well and climb
onto her mothers lap, is asked, Tell me about her use of words. The father
responds that she says only 2 words (dada and ba for milk)
A 20-month-old child was seen in the emergency department for a high fever,
rhinorrhea, and irritability. The clinician made a diagnosis of acute otitis media.
The clinician then asked the parent if there were any other concerns. When the
response was negative, the clinician followed with a few developmental screening
questions: When did he walk? How many words is he saying? Does he use
a cup and spoon to feed himself? The parent responded that the child does not
walk, and that she has been worried about limited use of his legs for a long time.
A screening neuromuscular examination revealed mild symmetric, increased tone
andhyperreflexia of all extremities
DEVELOPMENTAL SCREENING
Experienced pediatricians may perform a comprehensive interview and a standard neurologic examination,
including developmental milestones, as a method of
788
Part IX ASSESSMENT
way, the process of screening is an opportunity to communicate with parents about a childs developmental
strengths. Maintaining copies of the screening checklist
in the medical record has been used to monitor quality
assurance.
A potential disadvantage of relying only on a screening tool is that a parents agenda for the visit may be
missed by not permitting an individualized focus for
each visit. A checklist without a therapeutic interview
encourages an emphasis on content at the expense of
process and a false sense of completeness (Perrin and
Stancin 2002). In addition, a standardized screening test
may not be sensitive to cultural differences that have an
impact on developmental trajectories.
Pediatricians generally rely on developmental surveillance. Less than 25% of primary care pediatricians
routinely use a standardized test for developmental
screening during well-child visits (Sand et al, 2005).
The American Academy of Pediatrics recommends that,
in addition to developmental surveillance at each wellchild visit, a standardized developmental screening tool
should be administered at 3 visits during the first 3 years
of life: 9 months, 18 months, and 30 months (American
Academy of Pediatrics, 2006). These stages in a childs
early development represent a time when particular domains of developmental achievement may be accurately
assessed: gross/fine motor skill and early social skills at
9 months; early language and emerging social skills at
18 months, when signs of autistic spectrum disorder
may be detected; and expressive/receptive language at
30 months, especially among the 15% to 20% of latetalking toddlers at 24 months, many of whom are normal at 30 months (Table 79-2).
Developmental screening instruments are categorized in four areas: general developmental, language/
cognitive development, motor development, and autism
screening. Most of the tests rely on questions directed
to parents. Some tests include eliciting developmental
achievements from the child (see Table 79-2). A unique
form of general developmental screening is the Parents
Evaluation of Developmental Status (PEDS); the parent is asked specifically about concerns in eight developmental, behavioral, and learning domains. All of
the developmental screening tools, with the exception
of those that focus on autism, derive their organizing
framework from Gesells neuromaturational model of
developmental milestones. They are different with regard to age range, administration time, psychometric
properties, and number of milestones ascertained. It is
useful for primary care pediatricians to develop expertise in one test in each of the categories. To ensure the
regular use of screening tests, the staff and organization
of an office or clinic must be responsive to the routine
use of these tests, including scoring and follow-up.
DEVELOPMENTAL ASSESSMENT
Developmental assessment describes a comprehensive
evaluation of a childs skills, including cognition, communication, motor skills, daily living skills, and social
and behavioral skills. A developmental assessment typically includes one or more standardized tests. Although
professionals with specific training perform developmental assessments, understanding the essential elements of a developmental assessment allows pediatric
clinicians to provide parents with accurate information
and to make effective referrals (Fig. 79-1).
The selection and administration of appropriate
standardized tests are crucial components of a developmental assessment allowing comparison of one childs
responses with a clearly defined normative sample of
same-aged peers. A standardized test measures a sample
of behavior at a particular moment in time. Each test is
limited by what it was designed to measure, and no one
test captures all aspects of a childs functioning. Poor
cooperation and low motivation can affect performance.
Interviews with the child, parent, and other individuals
consistently involved with the child also are important
components of developmental assessment. Behavioral
observation during testing and in more familiar settings
(home, daycare, school) provides information about the
child in various environments and conditions. An informal assessment of play skills and the use of language
supplements standardized procedures. At the end of the
testing period, an opportunity is provided for the parents and professionals to review the results.
In most cases, a written report is generated using
language that is tailored to the intended audience (i.e.,
parents, teacher, pediatrician). A clear and concise written report serves as a valuable communication tool;
provides information about the childs current functioning; and, most importantly, can be used to direct
appropriate treatment recommendations and measure
progress following early intervention (Sattler, 1988).
Quality Control
In an effort to promote professional and ethical standards with regard to the administration of developmental and other psychological tests, the American
Psychological Association (2006) developed specific
guidelines. Most publishers of standardized tests have
adopted a standard language that consists of three levels
of user qualifications (levels A, B, and C). The definition of the levels of user qualification can be found on
789
790
Part IX ASSESSMENT
Age Range
No. Items
Administration Time
4-60 mo
30
10-15 min
Birth to 95 mo
100
3-24 mo
11-13
10 min
Brigance ScreensII
0-90 mo
8-10
10-15
Child Development
Inventory (CDI)
18 mo to 6 y
300
30-50 min
General
Developmental
Screening Tool
Ages and Stages
Questionnaires
(ASQ)
791
Psychometric
Properties
Scoring
Method
Cultural
onsiderations
C
Purchase/
Obtainment Information
Key
References
Risk categorization;
provides a cutoff score
in 5 domains of development that indicates
possible need for
further evaluation
English, Spanish,
French, and
Korean versions
available
Quantitative; scaled
scores in all 5 domains
are compared with
cutoffs to determine
need for referral
Newborg J: Battelle
Developmental Inventory, 2nd ed. Itasca, IL,
Riverside Publishing,
2004
Psychological Corp:
800-211-8378; www.
harcourtassessment.com
Quantitative; provides
age equivalents in each
domain and SDs
792
Part IX ASSESSMENT
Age Range
No. Items
Administration Time
Child Development
ReviewParent
Questionnaire
(CDR-PQ)
18 mo to 5 yr
10-20 min
0-6 yr
125
10-20 min
Infant Development
Inventory
0-18 mo
5-10 min
Parents Evaluation
of Developmental
Status (PEDS)
0-8 yr
10
2-10 min
3-36 mo
100
15-20 min
Physician-administered
standard examination of
movement, tone, and reflex
development; simple 3-point
scoring system
6-12 mo
15
5-10 min
8-18 mo
1-3 min
Language and
Cognitive Tools
Capute Scales (also
known as Cognitive
Adaptive Test/Clinical Linguistic Auditory Milestone Scale
[CAT/CLAMS])
Motor Screening
Tools
From American Academy of Pediatrics: Identifying infants and young children with developmental disorders in the medical home: An algorithm for developmental
surveillance and screening. Pediatrics 118:405-420, 2006.
793
Psychometric
Properties
Scoring
Method
Cultural
onsiderations
C
Purchase/
Obtainment Information
Key
References
Denver Developmental
Materials:
800/419-4729;
www.denverii.com
Studied in 86 high-risk
8-mo-olds seen in a perinatal follow-up program
and compared with the
Bayley scales; sensitivity
0.85 (moderate); specificity 0.77 (moderate)
Risk categorization;
delayed or not
delayed
Risk categorization;
provides algorithm to
guide need for referral,
additional screening or
continued surveillance
English, Spanish,
Vietnamese,
Arabic, Swahili,
Indonesian,
Chinese,
Taiwanese,
French, Somali,
Portuguese,
Malaysian, Thai,
and Laotian
versions available
Standardized on 1022
North American children
2-36 mo; correlations
high with Bayley Scales
of Infant Development;
sensitivity 0.21-0.67 in
low-risk populations
(low); specificity 0.951.00 in low-risk population (high) and 0.82-0.98
in high-risk populations
(moderate to high)
Quantitative
(developmental age
levels and quotient)
English, Spanish,
and Russian
versions available
Risk categorization
(normal/suspect/
abnormal
English version
available
Quantitative
(developmental age
levels and quotient)
English version
available
794
Part IX ASSESSMENT
Table 79-3. Frequently Used Standardized Tests of Development and Cognition in Young Children
Test
Age Range
Description/Comments
Administration Time
Publisher, Date
Bayley Scales
of Infant
and Toddler
Development,
Third Edition
1-42 mo
Measures multiple
developmental
domains: cognitive,
receptive, and expressive language; fine and
gross motor; socialemotional and adaptive
behavior
30-90 min
Harcourt
Assessments,
2005
Mullen Scales of
Early Learning
Birth to 68 mo
for cognitive
scales; birth to
33 mo for gross
motor scales
15-60 min
Peabody Picture
Vocabulary
TestIV
Stanford-Binet
Intelligence
Scale, Fifth
Edition
2 yr 6 mo to
>90 yr
Pearson
Assessments,
2006
Riverside
Publishing,
2003
2 yr 6 mo to 7 yr
3 mo (divided
into 2 age
bands)
WoodcockJohnson III
2 yr to >90 yr
2 yr to >85 yr
Approximately 5min
per subtest
Measure of general
30-60 min (depending
cognitive ability using
on childs age)
4 composite scores
(full-scale IQ, verbal
IQ, performance IQ,
processing speed
quotient)
Measure of intellectual
35-45 min for cognifunctioning, oral lantive, 55-66 min for
guage, and achievement
achievement
The Psychological
Corporation,
a Harcourt
Assessment
Company,
2002
The Riverside
Publishing
Company,
2001
Relationship to
Similar Measures
High correlations with
the WPPSI-III; high
correlations between
the language composite and a similar measure of receptive and
expressive language;
moderate correlations
for the motor composite and similar test of
motor skills
Good reliability with the
original Bayley and
other tests measuring specific areas of
functioning
795
796
Part IX ASSESSMENT
Woodcock-Johnson III
REFERENCES
The Woodcock-Johnson III (WJ-III) includes two sections: tests of cognitive abilities and tests of achievement
(see Table 79-3). These tests provide information about
intellectual functioning, oral language, and achievement. The WJ-III was developed for use with individuals 2 years to greater than 90 years old (McGrew and
Woodcock, 2001). Although the WJ-III is often selected
for school-age children, it is used less often among preschool-age children. The Bateria III Woodcock-Munoz
is the Spanish version of the cognitive and achievement
batteries that parallels the WJ-III (Riverside Publishing,
2006).
American Academy of Pediatrics: Identifying infants and young children with developmental disorders in the medical home: An algorithm for developmental surveillance and screening Pediatrics
118:405-420, 2006.
American Psychological Association. Available at: www.apa.org.
Accessed December 2006.
Bayley N: Bayley Scales of Infant and Toddler Development, Third
Edition, Administration Manual. San Antonio, TX, The Psychological Corporation, 2006a.
Bayley N: Bayley Scales of Infant and Toddler Development, Third
Edition, Technical Manual. San Antonio, TX, The Psychological
Corporation, 2006b.
Dixon SD, Stein MT: Encounters with Children: Pediatric Behavior
and Development, 4th ed. Philadelphia, Mosby Elsevier, 2006.
Dworkin PH: British and American recommendations for developmental monitoring: The role of surveillance. Pediatrics 84:10001010, 1989.
Gesell A, Amatruda CS: Developmental Diagnosis: Normal and Abnormal Child Development. New York, Hoeber, 1941.
Glascoe FP: The value of parents concerns to detect and address
developmental and behavioral problems. J Pediatr Child Health
35:1-8, 1999.
Handen B: Mental retardation. In Mash EJ, Terdal LG (eds): Assessment of Childhood Disorders, 3rd ed. New York, Guilford Press,
1997, pp 397-407.
Kanaya T, Scullin MH, Ceci SJ: The Flynn effect and U.S. policies: The
impact of rising IQ scores on American society via mental retardation diagnose. Am Psychol 58:778-790, 2003.
Lichtenberger EO, Kaufman AS: Essentials of WPPSI-III Assessment.
Hoboken, NJ, John Wiley & Sons, 2004.
McGrew K, Woodcock RW: Technical Manual. Woodcock-Johnson
III Tests of Cognitive Abilities. Itasca, IL, Riverside Publishing,
2001.
Mullen EM: Mullen Scales of Early Learning Manual. Circle Pines,
MN, American Guidance Service, Inc, 1995.
Pearson Assessment. Available at: www.pearsonassessment.com.
Accessed December 2006.
Perrin EC, Stancin T: A continuing dilemma: Whether and how to
screen for concerns about childrens behavior. Pediatr Rev 23:264275, 2002.
Piotrowski NA: Magills Encyclopedia of Social Science Psychology,
Vol 2. Pasadena, CA, Salem Press, 2003.
Plucker JA (ed): Human Intelligence: Historical Influences, Current
Controversies, Teaching Resources. 2003. Available at: http://
www.indiana.edu/~intell. Accessed December 2006.
Riverside Publishing. Available at: www.riverpub.com. Accessed
December 2006.
Roid GH: Stanford-Binet Intelligence Scale Fifth Edition, Examiners
Manual. Itasca, IL, Riverside Publishing, 2003a.
Roid GH: Stanford-Binet Intelligence Scale Fifth Edition, Technical
Manual. Itasca, IL, Riverside Publishing, 2003b.
Roid GH, Miller LJ: Leiter International Performance ScaleRevised.
Wood Dale, IL, Stoelting Co, 1997.
Sand N, Silverstein M, Glascoe PP, et al: Pediatricians reported practices regarding developmental screening: Do guidelines work? Do
they help? Pediatrics 116:174-179, 2005.
Sattler JM: Assessment of Children, 3rd ed. San Diego, JM Sattler
JM, 1988.
Wechsler D: WPPSI-III Technical Interpretive Manual. San Antonio,
TX, The Psychological Corporation, 2002a.
Wechsler D: WPPSI-III Administration and Scoring Manual. San
Antonio, TX, The Psychological Corporation, 2002b.
PARENT RESOURCES
The role of a childs pediatrician is to help a family understand what to expect in a developmental assessment.
Many helpful websites have been specifically designed
to support and educate parents about development in
young children. Zero To Three is a national organization with a website (www.zerotothree.org) that provides
information specific to developmental assessment, including New Visions: A Parents Guide to Understanding Developmental Assessment. This resource was
written by parents. It provides definitions of frequently
used terms, understanding the referral process, tips for
parents before and after an evaluation, and information
about public funding and laws. It also includes information about warning signs of an inappropriate assessment
(e.g., the expectation that a young child should be separated from the caregiver during an evaluation).
SUMMARY
Developmental surveillance, screening, and assessment
provide a framework for clinicians to incorporate their
knowledge about child development into pediatric practice. Surveillance of developmental progress, by obtaining a history of developmental milestones and focused
observations, is the core of pediatric medicine. As a
part of all pediatric clinical encounters, monitoring a
childs development promotes the exchange of knowledge between pediatricians and parents, while recognizing children who may be at risk of developmental delay.
Standardized questionnaires are the tools typically used
for developmental screening. Many experienced pediatricians rely on a comprehensive interview and a neurologic examination of developmental milestones.
An assessment of development refers to a more
comprehensive evaluation of motor, language, social,
and cognitive skills usually performed by a specialist.
This chapter reviews the principles of developmental
surveillance, screening, and assessment. Suggestions for
selecting methods and specific tests are made. Knowledge about developmental assessment tools promotes
communication about child development between pediatricians and developmental-behavioral pediatricians,
mental health professionals, and parents.
80
DEVELOPMENTAL
ASSESSMENT OF THE
SCHOOL-AGE CHILD
Kathleen Selvaggi Fadden
School Functioning
When assessing school functioning, it is helpful to examine performance and behavior history grade by grade,
starting with preschool. A child who is asked to leave
a preschool because of behavior concerns requires close
examination regarding the reasons, such as aggression
or separation anxiety. Repeating the kindergarten year
needs to be examined for whether academic, behavioral,
or social concerns were in evidence. Review of report
cards and standardized testing from all grades gives
valuable information. A child who does not have sound/
symbol recognition of letters or does not know simple
addition in first grade is at risk for learning problems.
Because a diagnosis of attention-deficit/hyperactivity
disorder (ADHD) requires that symptoms must be present before age 7, obtaining history about kindergarten
798
Part IX ASSESSMENT
A specific learning disability is assessed initially by evaluating any discrepancy between intelligence testing and
achievement testing (see Chapter 82). The Individuals
with Disabilities Education Act (see Chapter 98) ensures the right of all children to a free and appropriate education in the least restrictive environment, and
more recent legislation about minimum competencies
ensures that no child is left behind. Some children
may receive services by a special education teacher team
teaching in a regular education classroom (commonly
called inclusion), whereas others may require a separate
classroom or specialized school.
Under the Individuals with Disabilities Education
Act, diagnostic health services may be requested by the
school district, typically for ADHD or autism. Rarely
does a child hold an uncomplicated diagnosis, and in
addition to attention deficits or autism, learning deficits
and anxiety may be present. A comprehensive view of
the child is important.
Medical Issues
First, any treatable medical issues affecting development
must be assessed. Obtaining previous medical records is
important (e.g., a child who was being treated for lead
poisoning in one foster home should not be treated as
having ADHD in another foster home because of lack
of records). Sometimes simple issues, such as not having
breakfast and lunch, can be the cause of poor performance in the classroom. A specific medical diagnosis may
not cause developmental concerns itself; but the chronic
state could cause issues (e.g., children with type 1 diabetes
for 6 years have been shown to have deficits in long-term
memory and in attention, processing speed, and executive
skills with lower verbal and full-scale IQ scores noted if
severely hypoglycemic (Northam et al, 2001). For a premature birth, it is helpful to review the Nursery Neurobiologic Risk Score (Brazy et al, 1993), which rates seven risk
factors (ventilation, pH, seizures, intraventricular hemorrhage, periventricular leukomalacia, infection, and hypoglycemia) as being concerns for poor development.
An audiogram by an audiologist to ensure appropriate sensory input should be done because screening
tests can be inaccurate in a child with a developmental
concern. Similarly, an eye examination with dilation is
helpful to ensure acuity and rule out chorioretinitis or
Lisch nodules. If a vision therapist is being considered
for difficulty reading, psychoeducational assessment
should be recommended first, and although an eye examination also is indicated, vision therapy in the form
of eye exercises is not recommended (see Chapter 71).
Appropriate growth charts can be downloaded from
the Centers for Disease Control and Prevention website
to evaluate for body mass index, and specialty growth
charts can be found, including for children with Down
syndrome or for children internationally adopted from
China. A girl with short stature and specific deficits in
math may need to be checked for Turner syndrome.
Head circumference can be done in older children to
document the microcephaly of fetal alcohol syndrome
or megalencephaly, which is associated with learning
deficits (Sandler et al, 1996). Children with cyanotic
heart disease are at higher risk for learning disabilities. Ultraviolet (Wood lamp) testing can elucidate
the hypopigmented lesions in tuberous sclerosis or the
hyperpigmented lesions in neurofibromatosis (the axillary freckling of neurofibromatosis should be checked
for while auscultating the heart and lungs). A childs gait
should be observed for asymmetries and dyscoordination
or for sensory problems such as toe walking. Snoring
during REM sleep can herald sleep apnea, which can affect daytime attention. Assess sleep onset and duration.
Family History
Because many disorders have familial tendencies, it is
important to take a two generational family history.
Any history of medical, mental health, or learning difficulties should be ascertained, asking about each family
member separately, especially asking about any medication taken for a disorder, or medications that were
not tolerated. A child whose family members have a history of dyslexia or learning problems may need to be
watched more closely for the same. A family history of
early cardiac death or arrhythmia may have important
treatment implications. A family history of a maternal
aunt having a son with developmental delay and a maternal grandfather with an early onset of ataxia before
age 50 can be an indication of fragile X syndrome, the
799
NEURODEVELOPMENTAL TESTING
Neurodevelopmental testing goes beyond soft neurologic signs broadly indicative of dysfunction, such as
mixed dominance, synkinesia, finger agnosia, or dysdiadochokinesia. It is helpful to consider left brain (language processing) and right brain (visual processing)
functioning. Language processing includes input skills
(auditory processing, reading) and output skills (speech,
written language). Visual processing also includes input
skills (visuospatial and perception) and output skills
(visuomotor integration). Testing language and visual
processing for input and output skills summarizes neurodevelopmental assessment.
Although a child may be categorized as an auditory or
visual learner, many complex factors affect developmental assessment of a school-age child, such as attention
span, emotional factors, sensory processing, and environmental factors. Temperamental factors regarding
the goodness of fit between the child and parent or
teacher can have an impact on the childs development.
The goal of neurodevelopmental testing is frequently not
only the test results themselves, but also a description of
how a child approaches a task, and the childs length of
attention for a task, ability to shift sets, frustration tolerance, organizational skills, and processing speed, and
assessment of emotional state, especially anxiety. The
analysis of specific developmental complaints by Levine
(1994) greatly aids in understanding a childs strengths
and weaknesses.
Table 80-2 summarizes common assessment tools
for neurodevelopmental testing. Assessment tools
can be comprehensive in nature, where all aspects of
neurodevelopmental functioning is explored in one
test, or assessment tools can be for a specific skill
assessment. More comprehensive assessments include
the PEER, PEEX 2, and PEERAMID 2 and the Slosson test Einstein Assessment of School Related Skills.
Parts of these tests can be used to assess specific complaints, or the more specific testing tools can be used
(see Table 80-2). Many evaluators use a combination
of tools to test specific functioning. Commonly, the
Peabody Picture Vocabulary Test is used to ascertain
a verbal/cognitive level. The Wide Range Achievement Test may elucidate reading, writing, and math
deficits. The Diagnostic and Statistical Manual of
Mental Disorders should be used to determine common behavioral disorders, such as ADHD, pervasive
developmental disorders, depressive disorder, anxiety disorder, and oppositional defiant disorders with
the help of behavioral questionnaires obtained from
parents and teachers. Specific tests such as the Gilliam Autism Rating Scale also can support a diagnosis such as Asperger syndrome. Goodenough-Harris
scoring of a human figure drawing can estimate cognitive level, tap emotional functioning, and screen
graphomotor abilities. A Short Sensory Profile can
help assess a kindergartener with sensory processing
problems.
800
Part IX ASSESSMENT
Auditory sequence/
memory
Receptive
vocabulary
Visual processing
Academic
achievement
Comprehensive
Cognitive
School readiness
Autism
Learning style
Sensory
Test
Wide Range Achievement TestRevised
(WRAT)
Woodcock Reading Mastery Tests
Revised
Gray Oral Reading Test, Fourth Edition
Roswell Chall
Digit span: 4 by age 8, 5 by 10, 6 by 12,
7 by 14
Peabody Picture Vocabulary Test,
Fourth Edition
Bender Visual Motor Gestalt Test
House, tree, person drawing
Wold Sentence Copy Test
Gesell figures
Beery-Buktenica Developmental Test of
VMI
Wide Range Achievement TestRevised
(WRAT)
Pediatric Examination of Educational
Readiness
Pediatric Early Elementary Examination2
Pediatric Examination of Educational
Readiness at Middle Childhood2
Einstein Assessment of School Related
Skills
Kaufman Brief Intelligence Test, Second
Edition
Goodenough-Harris Drawing Test
Peabody Picture Vocabulary Test,
Fourth Edition
Battelle Developmental Inventory,
Second Edition
Gilliam Autism Rating Scale
Autism Behavior Checklist
Childhood Autism Rating Scale
Learning Styles Inventory
Short Sensory Profile
Vignette
Steven is an 8-year-old in the second grade who tells
you that he wants to read, but that he cannot sound
out words the way his classmates do. His mother
reports that Steven is smart and listens avidly when
material is read to him, even through the fourth-grade
level. Steven is noted to have difficulty reading even
level 1 books by himself. His mother is concerned
that this bright child was placed in the lower reading
group in his second-grade class. He cannot generate
rhyming words for you, and you suspect dyslexia. You
refer him to the school system for further testing and a
multisensory phonolinguistic reading program.
to be a visual processing problem with reversals, possibly cured by eye exercises. More recent research shows
that reading disability has a neurobiologic signature
on functional magnetic resonance imaging scans, and
it is characterized by difficulties with accurate or fluent word recognition and by poor spelling and decoding
abilities remediable by provision of an evidence-based,
effective reading intervention (Shaywitz and Shaywitz,
2005). Some children may hide their inability to read
and reach fourth grade without detection of the extent
of their disability. A careful history must be taken regarding a childs reading level, comprehension ability,
and fluency.
Facility in language correlates most to intelligence
and academic success. Language processing generally
has many components, including phonology (associating sounds with symbols), semantics (vocabulary development), morphology (word roots), syntax (word
order), discourse (larger volume of language), metalinguistics (grammatical expression), and pragmatics (social language) (Levine, 1994). Language output deficits
specifically can have a complex etiology. Word retrieval
problems are common, especially in children with attention deficits. Deficits in syntax and pragmatics may be
seen in children with residual autistic spectrum disorder
symptoms. Problems with written expression are frequently multifactorial because the child not only must
think of what to express, but also how to organize it,
how to spell it, how to make the letters, and how to
be legible. Written language expression is perhaps the
most difficult task of a school-age child. Children with
apraxia (poor motor planning of central origin) have
difficulty executing many motor tasks unless they are
overlearned. Motor apraxia can have a negative impact
on writing skills, whereas verbal and oral apraxia can
have a significant impact on speech development.
Children requiring repetition of instruction and
dampening of background noise may have deficits in
auditory processing. Formal central auditory processing
testing can be done by an audiologist in a soundproof
booth. Central auditory processing testing assesses how
a child hears and gives norms starting at age 8 on such
parameters as auditory sequencing, auditory discrimination, and auditory figure-ground (i.e., white noise such
as the paper shuffling in a classroom is pumped into the
soundproof booth, and the child needs to try to distinguish a teachers frequency to follow directions).
Vignette
Jason is having significant difficulty with sixth-grade
math so that he may need to go to summer school
because of failing grades. He is a verbally precocious
boy who has always gotten As and Bs on his report
card except for math, where he achieved Cs and
recently Ds. Last year, he started to show deficiencies
owing to poor organizational skills. He is noted to
Children with a nonverbal learning disorder have impaired ability to organize the visuospatial field, adapt to
new or novel situations, or accurately read nonverbal signals or cues (Thompson, 1996). They are unique in that
their language processing is quite strong, and so they are
usually quite capable in the classroom. In later years, however, weaknesses in visual processing and perceptual organizational skills lead to noticeable deficits in performance.
Appropriate visual acuity without strabismus needs to be
confirmed, but visual processing deficits are rarely due to
eye pathology per se. Deficits in visual processing tend to
be more subtle in presentation and may manifest in an
aversion for word searches and difficulty in blackboard
copying. Math skills requiring perceptual functioning are
problematic. Children frequently focus on details, but
miss the big picture, and miss classroom instructions, do
not finish their work, and misinterpret what needs to be
done. Poor perceptual skills lead to missed social cues
owing to lack of attention to facial expressions. Boys,
especially, who have coordination and motor planning
801
ANCILLARY ASSESSMENTS
Children who are delayed in input and output skills
and have global memory problems frequently have intellectual disabilities and should be referred to a psychologist for intelligence testing and adaptive testing.
Intelligence testing gives an IQ score, whereas adaptive testing assesses practical abilities such as self-care
and socialization (see Chapter 81). If there is concern
about a specific learning disability, psychoeducational
testing would be done, including intelligence testing
by a psychologist and achievement testing by a learning disabilities teacher consultant. Testing by a speechlanguage therapist may include scores for receptive and
expressive language and specific assessments for auditory processing and pragmatic or social language skills.
An occupational therapist assesses more carefully visual
processing and graphomotor skills and any issues with
sensory processing of the environment. A psychologist
could look more at emotional functioning by doing a
structured interview or projective testing. A family with
complex stressors may require a social worker to assist.
Comprehensive testing of all of these issues also can be
done by a neuropsychologist. Children with severe mood
disturbances, psychotic tendencies, or suicidal ideation
should be referred to a child psychiatrist. To understand
a child fully, comprehensive developmental assessment
with synthesis of the above-mentioned information can
be the key to vital intervention for a school-age child.
SUMMARY
Developmental assessment of a school-age child is a
complex process of synthesizing data to describe a
childs strengths and weaknesses in neurodevelopmental
areas important in learning. School functioning, medical issues, developmental-behavioral history, and family
history need to be assessed before testing. In a situation
unique to childhood, children change and grow so that
one developmental task may be problematic at a certain age and another problematic as the child gets older.
Neurodevelopmental testing can simplistically be divided into assessment of left brain functioning (language
and auditory processing) and right brain functioning
(visuospatial and novel stimuli processing). Evaluating
how the child can input and output information can
document a childs unique abilities. Helping parents,
teachers, therapists, and coaches to understand a childs
unique abilities can provide a nurturing environment in
which the child may thrive.
802
Part IX ASSESSMENT
REFERENCES
Brazy JE, Goldstein RF, Oehler JR, et al: Nursery neurobiologic risk
score: Levels of risk and relationships with nonmedical factors.
Dev Behav Pediatr 14:375-380, 1993.
Dunn R, Dunn K, Price GE: Learning Styles Inventory. Lawrence, KS,
Price Systems, 1989.
Hagan JF, Shaw JS, Duncan PM (eds): Bright Futures Guidelines for
Health Supervision of Infants, Children, and Adolescents, 3rd ed.
Chicago, American Academy of Pediatrics, 2007.
Hagerman PJ, Hagerman RJ: Fragile X-associated tremor/ataxia syndrome (FXTAS). 2007. Available at: http://fragilex.org/FXTAS.pdf.
Jellinek M, Patel BP, Froehle MC (eds): Bright Futures in Practice:
Mental Health Vol I. Practice Guide. Arlington. VA, National
Center for Education in Maternal and Child Health, 2002.
Levine MD: Educational Care: A System for Understanding and Helping Children with Learning Problems at Home and in School.
Cambridge, MA, Educators Publishing Service, 1994.
Lyon GR: Toward a definition of dyslexia. Ann Dyslexia 45:3-27,
1995.
Northam EA, Anderson PJ, Jacobs R, et al: Neuropsychological profiles of children with type I diabetes 6 years after disease onset.
Diabetes Care 24:1541-1546, 2001.
Sandler AD, Knudsen MW, Brown TT, et al: Neurodevelopmental
dysfunction among nonreferred children with idiopathic megalencephaly. J Pediatr 131:320-324, 1996.
Shaywitz SE, Shaywitz BA: Dyslexia (specific reading disability). Biol
Psychiatry 57:1301-1309, 2005.
Thompson S: Nonverbal learning disorders. 1996. Available at: http://
www.nldontheweb.org/thompson-1.htm.
81
ASSESSMENT OF
INTELLIGENCE
Helen Tager-Flusberg and
Daniela Plesa-Skwerer
reasoning, memory, counting), which was highly reliable and showed substantial validity in predicting academic performance (Binet & Simon, 1916).
The success of Binets work on measuring intelligence
is still evident today; the content of most current comprehensive intelligence tests (e.g., the Stanford-Binet and
the Wechsler scales) can be traced back to his original
ideas. At the same time, creators of intelligence tests generally acknowledge that scores on such tests reflect not
only intellectual abilities, but also motivation and adaptive personality factors (Wechsler, 1950). There also is
a clear role for the effect of cultural and social/familial
factors on test taking skills and attitudes toward the significance of academic achievement, which may influence
the assessment of intelligence in children.
DEFINING INTELLIGENCE
From the beginnings of intelligence research with
Galton and Binet, no unified definition of intelligence
has guided researchers or theorists in this area. Only
at the most general level of conceptualizing intelligence
has any agreement emerged, according to Sternberg and
Detterman (1986), who summarized the views held by a
wide range of contemporary theorists. The main themes
emphasized by these experts included the capacity to
learn from experience, the capacity to adapt to the environment, and metacognitive abilitiesunderstanding
and controlling ones own problem solving, reasoning, or decision making. At the same time, more than
two dozen additional attributes were mentioned (e.g.,
learning, reasoning, speed of processing, elementary
attentional and perceptual abilities), but no consensus
about their significance was reached.
Why is there no general agreement about how to
define intelligence? Differences among theorists can be
traced to several complex questions that can be raised
in the way intelligence is conceptualized intuitively and
empirically. First, should a definition of intelligence be
limited to a construct that defines individual differences,
or should it also reflect universal and relatively invariant
human capacities? Most theorists focus their definition
on individual differences, not including highly abstract
and universal cognitive abilities, such the capacity to
803
804
Part IX ASSESSMENT
Psychometric Models
Psychometric models of intelligence are generally concerned with the structure and organization of mental
abilities (Table 81-1). They focus on conceptions of intelligence that depend exclusively on the basis of intelligence tests as measures of individual differences, and
the models are derived from statistical manipulations of
scores obtained within and across IQ tests. Spearman
(1927), who is credited with being the inventor of
factor analysis, the major statistical method used by
psychometric theories, initiated this approach.
Spearmans model of intelligence emphasized the singular nature of intelligence, which he termed g for general intelligence, a trait that is normally distributed across
populations. Although individuals scores across numerous subtests of an intelligence battery may differ, one still
finds positive correlations across subtests. At a technical
level, g represents the first principal component of a factor analysis of subtest scores, accounting for the common
variance among the subtests. For Spearman, g was the essence of intelligencea single attribute, which he thought
of as a kind of mental energy. Despite years of debate
and controversy about what g might represent, it is a statistical reality that is obtained from different populations
with high and low levels of intelligence (Chabris, 2007),
and is reflected primarily in full-scale IQ scores. At the
same time, g accounts for only a portion of the variance
across subtests; the residual variance remaining on each
subtest was termed s by Spearman, to represent additional
specific factors of intelligence, such as spatial or verbal
ability, but these were of only incidental interest to him.
Other researchers in the psychometric tradition criticized the reductionist approach to intelligence, represented by Spearmans emphasis on g. For Thurstone
(1938), intelligence was best captured by a set of primary
mental abilitiesseven factors that included verbal comprehension, verbal fluency, inductive reasoning, spatial
visualization, number, memory, and perceptual speed.
This perspective is reflected in the specific subtests that
are found on comprehensive IQ tests. Scores on these
subtests, such as verbal reasoning or block design, are
highlighted to provide a profile of a childs strengths and
weaknesses across different types of measures.
Cattell (1971) took an alternative psychometric approach, emphasizing the hierarchical structure of intelligence. In his model and others based on it (Vernon,
1971), general intelligence consists of two fundamental
types of ability: fluid and crystallized intelligence. Fluid
intelligence is defined as the understanding of abstract
and sometimes novel relations that does not depend
on particular content. It is best measured on analogy
problems or series completion tasks, such as Ravens
Concept
Definition
Spearman
g
s
Primary mental abilities
Verbal comprehension
Verbal fluency
Thurstone
Guilford
Cattell
Inductive reasoning
Spatial visualization
Number
Memory
Perceptual speed
Structure of intellect
Operations
Contents
Products
Fluid intelligence
Crystallized intelligence
Computational Models
What kinds of cognitive processes underlie intelligent
behavior? This is the kind of question that motivates
computational models, which focus on the information
processing requirements of performance on tests of intelligence. These models draw on current research and
theory in the cognitive sciences, extending beyond the
intelligence test and focusing on elementary processes
involved in performance on basic cognitive experimental tasks, which correlate with scores on psychometric
measures of intelligence such as Ravens Progressive
Matrices. Hunt (1978) was the first to introduce a computational approach to intelligence. For Hunt, intelligence could best be defined as speed of processing.
Sternberg (1982) analyzed the set of mental processes
that were needed to perform on conventional intelligence
tests into four basic components: encoding the problem,
inferring relations among terms in the problem, mapping
the relations, and applying the relations to new situations. Sternberg found that individuals who scored higher
on intelligence tests took longer at the encoding or planning stage, but less time on later stages in the computational process. Although these kinds of models provide a
useful approach to understanding the cognitive processes
underlying intelligence, they do not say much about the
structure and organization of intelligent abilities.
Neuroscience Models
In recent years with the explosion of research in the neurosciences, there has been a parallel increase in interest in
exploring neurobiologic correlates of intelligence. These
805
newer models have their roots in the ideas initially proposed by Galton and Spearman, but those investigators
did not have the means to investigate differences in the
brains of individuals varying in intelligence. Current research on neurobiologic models rests on the assumption
that there is some single general measure of intelligence,
which is operationalized either as full-scale IQ score or
as g (Bartholomew, 2004).
Jensen (1991) speculated that g represents a common
underlying biologic resource pool, specifically, the speed
and oscillation of central nerve conductance. Some
evidence for this idea comes from studies showing that
full-scale IQ correlates significantly with speed of peripheral neural conduction (Vernon and Mori, 1992)
and with cortical evoked potential measures (Matarazzo,
1994). Other studies have found that IQ correlates positively with whole brain volume (McDaniel, 2005) and
negatively with the rate of cortical glucose metabolism,
as measured by positron emission tomography (Haier
et al, 1988). This latter finding suggests that individuals
with higher IQ scores may be using their brains more
efficiently as reflected in lower consumption of cortical
glucose. More recent research has attempted to identify
the specific neural mechanisms that underlie intelligence
using magnetic resonance imaging, with studies focusing
on white matter integrity (Schmithorst et al, 2005) and
specific regions of interest such as the prefrontal cortex
(Gray et al, 2003).
Although these findings are intriguing, the magnitude of the correlations obtained between IQ and these
various neurobiologic measures is modest, generally accounting for less than one quarter of the variance. These
findings also do not provide a theoretical model that
might account for how and why brains of more intelligent individuals might be related to higher levels of g.
806
Part IX ASSESSMENT
Concept
Definition
Gardner
Linguistic intelligence
Logical-mathematical
Sternberg
Spatial intelligence
Musical intelligence
Bodily kinesthetic
Interpersonal intelligence
Intrapersonal intelligence
Analytic intelligence
Creative intelligence
Practical intelligence
intelligence, which is concerned with combining experiences in novel ways; and practical intelligence, which is
concerned with how to manipulate and adjust to the environment in everyday contexts. Sternberg emphasized
how these systems work together in dealing with different problems in various contexts.
Although many investigators view the broader conceptions of intelligence that are manifest in these complex systems models as a real advance with important
educational implications, others raise the concern that
they may be too unconstrained, not allowing for rigorous
empiric testing. Neisser and coworkers (1996) suggested
that some of the intelligences in Gardners theory are
more appropriately designated as simply special talents.
Across all the perspectives on intelligence that have
been reviewed here, intelligence is primarily defined in
terms of individual differences. No serious consideration is given to developmental changes in either the
structural organization or processes involved in intellectual performance. A richer, more complex, and less
quantitatively oriented view of intelligence would result
from incorporating knowledge about developmental
changes in cognitive abilities into conceptions of intelligence (Ceci et al, 1994), moving the field away from a
static perspective on intelligence.
The administration of a comprehensive intelligence battery provides a valid and reliable assessment, yielding
information that is useful to clinicians and other professionals working with a child. A variety of such batteries are currently available, including the Wechsler scales,
Wechsler Preschool and Primary Scale of Intelligence,
Third Edition and Wechsler Intelligence Scale for Children, Fourth Edition (Wechsler, 2002, 2003); StanfordBinet Intelligence Scale, Fifth Edition (Roid, 2003);
Differential Ability Scales, Second Edition (Elliot, 2006);
and Kaufman Assessment Battery for Children, Second
Edition (Kaufman and Kaufman, 2004). The advantage
of using one of these batteries is that they have excellent
psychometric properties, and they provide updated norms
against which a specific childs performance can be evaluated. Most importantly, these batteries include valid
measures of numerous relevant constructs that provide
profiles of functioning across different subtests, including
Genetic Factors
Research on genetic influences relies exclusively on performance on intelligence tests that are typically used in
behavioral genetics studies to provide estimates of the
heritability of g, or general intelligence. Heritability is a
technical construct that refers to the percentage of variation of a particular trait, in this case g, in a population
that is associated with purely genetic differences among
those individuals. It is widely accepted that heritability
estimates for general intelligence are between 0.45 and
0.75, suggesting that about 50% of the variance of IQ
scores can be explained by genetic factors.
Studies of genetic influences on intelligence have now
moved beyond showing their existence toward identifying some of the specific genes that may be responsible for
its heritability, using the power of new molecular genetic
technology (Plomin et al, 1994). This research is complex
and challenging because genetic influences on intelligence
seem likely to involve multiple genes of varying effect
size, which have been called quantitative trait loci. Some
progress in finding quantitative trait loci for intelligence
is now being made by many different research groups,
and several candidate genes have been identified (Plomin
and Spinath, 2004; Posthuma and de Geus, 2006).
Environmental Factors
From the moment of conception, phenotypes are influenced by the interactions between the genotype and a
wide range of environmental effects. These can be divided
into two categories: biologic and social. It is well known
that prenatal and postnatal exposures to poor nutrition,
lead, and alcohol can have measurable effects on intelligence scores because they influence brain development.
Perinatal factors, such as oxygen deprivation, also are
associated with poorer cognitive outcome. Social-environmental influences on intelligence scores also have
been widely documented. IQ scores are significantly correlated with family and home variables, which may include important cultural influences, social and parental
occupational factors, schooling, and specific intervention
programs, such as Head Start (Neisser et al, 1996).
807
influences on intelligence. Some emphasize a more biologic perspective, arguing that the environment exerts
its influence as a result of genetically determined factors; that is, the environment itself is genetically loaded
(Scarr, 1992). Other, more balanced interactionists may
view biology as a set of genetically constrained cognitive potentials that are influenced and shaped as they
develop in the context of specific experiences.
Bronfenbrenner and Ceci (1993) have proposed
a more complex and ambitious interactionist model
that has a clear developmental focus, which they call a
bioecologic view. They hold that intelligence is a multiple resource system that is only imperfectly gauged by
intelligence tests. From the beginning, biology and experience are interwoven, but their relationship continually
changes; with each change, new possibilities are set in
motion, until even small changes may lead to cascading
effects over the course of development. Environmental
influences are specific to each type of cognitive resource
or potential in timing of onset and rate of development.
The genetic influences may be limited to cognitive traits,
but also could include temperamental and motivational
variables that exert an influence on measured intelligence (Ackerman and Heggestad, 1997).
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Part IX ASSESSMENT
Summary
The origins of intelligence testing date back to Alfred
Binets early work on developing measures to assess
childrens potential for academic success. This chapter
summarizes current theoretical views on how to define intelligence. Although controversy persists, there is
general agreement that intelligence includes the capacity to learn from experience, the capacity to adapt to
the environment, and the ability to use metacognitive
or problem-solving skills. Current models of intelligence
are presented and methods for assessing childrens intelligence using comprehensive test batteries are surveyed.
The chapter ends with a discussion of the factors that
influence test performance, individual variation in intelligence, and historical changes in test scores.
REFERENCES
Ackerman PL, Heggestad ED: Intelligence, personality, and interests:
Evidence for overlapping traits. Psychol Bull 121:219-245, 1997.
Bartholomew G: Measuring Intelligence: Facts and Fallacies.
Cambridge, Cambridge University Press, 2004.
Binet A, Simon T: The Development of Intelligence in Children (ES
Kite Trans.). Baltimore, Williams & Wilkins, 1916.
Bronfenbrenner U, Ceci SJ: Heredity, environment, and the question
how? A first approximation. In Plomin R, McLearn G (eds):
Nature, Nurture, and Psychology. Washington, DC, American
Psychological Association, 1993, pp 313-324.
Brown L, Sherbenou RJ, Johnsen SK: Test of Nonverbal Intelligence,
3rd ed. Austin, TX, Pro-Ed, 1997.
Cattell RB: Abilities: Their Structure, Growth, and Action. Boston,
Houghton Mifflin, 1971.
Ceci SJ, Baker-Sennett JG, Bronfenbrenner U: Psychometric and
everyday intelligence: Synonyms, antonyms and anonyms. In
Rutter M, Hay DF (eds): Development Through Life: A Handbook
for Clinicians. Oxford, Blackwell, 1994, pp 260-283.
Chabris C: Cognitive and neurobiological mechanisms of the law of
general intelligence. In Roberts MJ (ed); Integrating the Mind:
Domain General versus Domain Specific Processes in Higher
Cognition. Hove, UK, Psychology Press, 2007, pp 449-491.
DeThorne LS, Schaefer BA: A guide to child nonverbal IQ measures.
Am J Speech-Language Pathol 13:275-290, 2004.
Dweck CS, Mangels JA, Good C: Motivational effects of attention,
cognition and performance. In Dai DY, Sternberg RJ (eds):
Motivation, Emotion and Cognition: Integrated Perspectives on
Intellectual Functioning. Mahwah, NJ, Erlbaum, 2004, pp 41-55.
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EDUCATIONAL ASSESSMENT
Martha S. Reed
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Part IX ASSESSMENT
Age (yr) or
Grade
Skill Areas
Group Achievement*
California Achievement Test
Grade K-12
Grade K-12
Grade K-12
Grade K-9
Grade K-12
Grade K-12
Grade 9-12
Age 16
Individual Achievement
Diagnostic Achievement Battery2
Age 6-14
Age 12-19
Age 4.6-25
Age 5-18
Age 16
Age 4-85 or
grade PK-16
Age 5
Age 5 or
grade K-12
Domain Specific
Reading
Formal Reading Inventorysilent and oral
Gates-MacGinitie Reading Tests (group or
individual)silent
Gates-McKillop-Horowilz Reading
Diagnostic Testsoral
Age 6-19
Grade K-12
Grade 1-6
813
Age (yr) or
Grade
Readingcontd
Gray Oral Reading Test4
Gray Oral Reading TestsDiagnostic
Age 6-19
Grade 1-6
Grade 9-college
Age 5 or
grade K-12
Age 7-18
Age 3-9
Grade 9-college
Age 5
Skill Areas
Reading accuracy, reading comprehension
Paragraph reading, decoding (phonogram recognition and blending),
word identification and vocabulary, word attack (morphemic analysis,
contextual analysis, word ordering)
Reading vocabulary, reading comprehension, reading speed
Word identification
General vocabulary, syntactic similarities, comprehension, sentence
sequencing, mathematics vocabulary, social studies vocabulary, science
vocabulary, reading directions
Construction of meaningawareness of print, knowledge of vocabulary
relationships, discourse comprehension; knowledge of alphabetletter
naming, oral reading (letter-sound associations); conventions of
written languagebook handling, response to convention of print,
proofreading
Inferential comprehension, deductive comprehension, evaluating
arguments, drawing conclusions
Visual-auditory learning, letter and word identification, word
comprehension, passage comprehension
Age 5-16
Age 3-21
Age 3-10
Age 7-18
Age 6-18
Age 6.6-14.11
Age 8-18
Mathematics
Key Math Diagnostic Arithmetic
TestRevised
Age 5-22 or
grade K-12
Grade K-8
Grade 2-12
Age 3-9
Age 8-18 or
grade 3-12
*Other
examples of group achievement tests include the PSAT (Pre Scholastic Aptitude Test), grades 9-10; SAT (Scholastic Aptitude Test), grades 11-12 for college
entrance; ACT (American College Testing), grades 11-12 for college entrance; and GRE (Graduate Record Examination), graduate school entrance. These tests
typically cover vocabulary, verbal reasoning, reading comprehension, mathematics computation, and mathematics problem solving. The SAT examination also
includes a written composition.
disabilities has been based on models indicating a significant discrepancy between learning aptitude (IQ) and
academic performance. Although the validity of the
IQ-achievement discrepancy model for diagnosing
learning disabilities and determining eligibility for special education services is presently being questioned (see
section on new era of educational assessment and alternative assessment techniques), it is still widely used.
Within this model, criteria for eligibility for special education services and the diagnosis of learning disabilities
are set by individual states and vary widely. Some states
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Part IX ASSESSMENT
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Part IX ASSESSMENT
arts, history, and geography. In response to the mandates of the Goals 2000 Act, states adopted systems of
outcome-based education and measurement. Outcomebased education describes what a student should know
and at what level a student should be able to perform at
designated points during the educational process (North
Central Regional Educational Laboratory, 2006a). Individual states set standards for what students should
know and be able to demonstrate to progress to the next
grade stage (from grade 4 to 5, grade 8 to 9, and on leaving the system [exit criteria]). These exit tests are commonly known as high stakes testing.
The most recent federal legislation governing student
competency and school accountability is the No Child
Left Behind Act of 2001 (NCLB). The intents of the
NCLB Act are to eliminate achievement gaps prevalent
among minority and low-income populations; to raise
the achievement level of all students; and to hold states,
school districts, and schools accountable for demonstration of measurable progress toward improved student
outcomes (Yell et al, 2006). The end goal of the legislation is that all students will show proficiency in reading
and math by the 2013-2014. The NCLB Act includes the
following mandates (Wikimedia Foundation, Inc, 2006):
States must test all students, including those with disabilities, annually in reading and math in grades 3
through 8 and once during high school.
By the 2007-2008 school year, states must assess
students in science at least once during each of the
three grade spans: 3 to 5, 6 to 9, and 10 to 12.
States must determine levels of performance proficiency
and set standards for school demonstration of adequate yearly progress in raising the achievement
levels of subgroups of students, including minority,
low-income, and special education students, to levels of proficiency. All students must be included in
school accountability systems, and all students must
be proficient by 2013-2014.
States and districts must provide data on student
achievement by subgroup, inform parents in a timely
manner about the quality of their childs school,
disseminate clear and understandable school and
district report cards, and provide parents and the
public with an accurate assessment of the quality of
their teaching forces.
Schools receiving Title I funds that do not meet adequate yearly progress requirements for 2 consecutive
years will be identified as in need of improvement
and required to offer parents supplemental services,
such as tutoring or the option of sending their children to another public school within the district or
both. If a school continues in in need of improvement status, it will be required to take corrective
action, such as removing relevant staff, restructuring the schools management and internal organization, and appointing outside experts to advise
the school. These sanctions apply only to schools
receiving Title I funds.
States must implement a rigorous system for ensuring that teachers are highly qualified, and that all
students have access to highly qualified teachers.
Federal funding will support only educational procedures, materials, and strategies that are backed by
scientifically based research.
In addition to the NCLB mandates, individual states
have imposed their own sanctions on schools failing to
meet adequate yearly progress goals, including reducing
funding, eliminating teacher bonuses, and restructuring
or possibly closing schools.
The emphasis on outcome-based education and
standards-based learning and assessment has encouraged states and school districts to implement additional
systems of end-of-course tests in designated courses in
high school. Graduating with a high school diploma often depends on passing these tests. The specific courses
subject for end-of-course tests and the standards for
passing them are set by individual states. Some states
depend on end-of-course test scores alone for determining passing or failing a course, promotion, and high
school graduation; others use the test results as a heavily
weighted factor in calculating a students course grade,
but also include daily performance and attendance.
In addition to state shifts in systems of accountability and testing to conform with federal and state mandates, there have been changes in philosophies regarding
the validity of the use of intelligence testing and IQachievement discrepancy models for assessing learning
disabilities and determining eligibility for special education services (Fuchs and Young, 2006; Lyon, 1994).
Many professionals argue that traditional standardized
IQ tests merely assess what an individual has learned
or been exposed to (crystallized intelligence), and not
reasoning and problem solving ability. Gardner (1993)
and Sternberg (1988) present alternative definitions of
intelligence that do not fit the commonly used standardized instruments for measuring IQ.
In addition, research increasingly has indicated that
a discrepancy between cognitive functioning as determined by IQ tests and performance on standardized
achievement tests is invalid for identifying a student as
learning disabled. Studies have shown a lack of qualitatively distinct cognitive profiles that differentiate learning disabled from low-achieving students and have been
inconsistent in revealing a differential response between
learning disabled and low-achieving students to intervention (Fuchs and Young, 2006; Kovaleski, 2004;
Pasternak, 2002).
One new trend is to use response to intervention
(RTI) as a more valid determinant of learning disabilities. The reasoning is that many low-performing children have not have had the benefit of instruction that
meets their individual needs, and if a child responds to
specifically targeted and individually tailored remedial
intervention, that child cannot be diagnosed as learning
disabled. In other words, a child cannot be diagnosed as
disabled if he or she has not had the benefit of individualized special intervention. The RTI process is described
subsequently in the section on alternative assessment
techniques. The use of RTI has gained additional support from the Individuals with Disabilities Education
Improvement Act of 2004. The regulations of the Act
strongly encourage the use of RTI and prohibit states
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Part IX ASSESSMENT
For tests that determine a students eligibility for promotion to the next grade or for high school graduation, students should be granted, if needed, multiple
opportunities to show mastery of materials through
equivalent testing procedures.
Other issues pertaining to high stakes and proficiency
testing that have been brought before the federal courts
in assessing the legality of specific testing practices (National Conference of State Legislatures, 2006) concern
the following:
The educational basis and validity for established
passing or cutoff scores. When testing programs use
specific scores to determine passing or to define
reporting categories such as proficient, the validity of these specific scores must be established.
The significance of any fairness problems, such as
possible cultural biases in the test or test items or
discrimination that singles out students on the basis
of any disability.
The use of an educational test for a purpose for
which the test was not designed or validated. If a
student lacks mastery of the language in which a
test is given, that test becomes, in part, a test of
language proficiency. Unless a primary purpose of
a test is to evaluate language proficiency, it should
not be used with students who cannot understand
the language of the test itself as a measure of other
skills. Nevertheless, English as a second language
students are required to be tested after just 1 year
in a U.S. school, even though it has regularly been
shown that such students need at least 3 years of
instruction in English to become competently literate. Another example is states use of the SAT and
ACT to measure reading and math proficiency of
high school students. These tests were not validated
for that purpose.
Finally, the entire system of annual testing as mandated by NCLB is under criticism on numerous counts,
as follows (NoChildLeft.com, 2005):
1. Lack of convincing evidence that annual testing actually improves learning
2. Annual testing is expensive
3. Annual testing reduces the amount of time for learning
4. Annual testing creates pressure to teach to narrow
tests
5. Annual testing increases anxiety
6. Annual testing leads to cheating in some places
7. Annual testing diverts resources from capacity building to testing
8. Annual testing is a coercive strategy by which test
results are used as a form of supervision and management control
eliminate some, but not all, of the shortcomings of standardized achievement tests.
Criterion-referenced tests measure student performance in comparison to pre-established goals (standards), rather than to the achievement of other students
(norm referenced). They may be commercially produced
or locally developed by teachers and school systems, and
are designed to assess mastery of skills in very specific,
well-defined domains. The term criterion applies to the
specific skill or behavior being tested (i.e., addition with
regrouping). Student performance is usually reported as
the percent of items answered correctly, and frequently
a cutoff score is established to denote mastery. Criterionreferenced tests typically include multiple items sampling
the same skill and provide more reliable and useful information for purposes of diagnosis and instructional
planning. Locally developed tests also are more directly reflective of the curriculum being taught. Nevertheless, there
are no rules governing how many test items are sufficient
to measure a skill, requiring common cutoff scores across
domains, or designating common standards for judging
mastery. Interpretation is subject to wide variability.
Curriculum-based assessment evaluates student performance and educational needs using the materials
being employed for instruction (Fuchs and Fuchs, 1990).
Tests may be designed by individual teachers, school
systems, or developers of commercial instructional
programs such as reading series. Curriculum-based assessment, being directly tied to what is being taught, can
assist instructional planning in the regular classroom by
indicating deficiencies on materials already covered and
readiness for subsequent instruction. Nevertheless, the
focus is on short-term goals, and assessment may fail
to represent long-term teaching objectives, more global
integration of skills and conceptual understanding, or
general student progress. Also, performance indicators
cannot be generalized from one set of materials to another, which can cause problems if a student changes
schools or if a system adopts a new curriculum series or
textbook.
Curriculum-based measurement, a variant of curric
ulum-based assessment, focuses on long-term instructional goals. Tests are designed to reflect the end objective,
and the same test (or equivalent form) is administered
at regular intervals throughout the year. Student performance is graphed to determine the amount and adequacy of progress. At the same time, student responses
are analyzed to determine instructional needs. Although
curriculum-based measurement is sensitive to classroom
instruction, can indicate student progress toward longterm goals, and is less susceptible to content and administration variability than curriculum-based assessment,
it also has shortcomings. Similar to curriculum-based
assessment, evaluation results are not readily generalized. There are no established guidelines regarding the
subcomponents or subskills of long-term objectives that
should be measured, the format for assessing them, or
the rate of progress deemed satisfactory. Rate of student
progress also may be highly unstable depending on the
variation in the difficulty of steps toward the final goal
and student variables at the different administration
intervals.
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Part IX ASSESSMENT
instruction, and how well student performance is monitored during intervention and thereafter.
DEVELOPMENTAL, PROCESS-ORIENTED
ASSESSMENT: AN INTEGRATED PERSPECTIVE
Learning is a complex, evolving, cumulative, and interactive process (Levine et al, 1993; Levine and Reed, 1998).
Each child brings to school his or her own innate capabilities, temperament, and prior experiences, which continue
to evolve as they act on and are acted on by curriculum
materials, different teaching styles, changing educational
demands, and experiences beyond the school walls.
Figure 82-1 illustrates this interactive model of learning.
In addition to direct testing, a comprehensive educational
evaluation needs to include examination of the students
background, educational history, and daily work samples,
and the school environment (wallace and Larsen, 1978).
Educational assessment that leads to effective instructional
planning and management and makes the goal of successful inclusion in the regular education program a reality for
students with varying patterns of learning is a multifaceted
process requiring integration of information from several
sources. The result should be a descriptive profile of learning strengths and weaknesses from which a detailed program of instruction and intervention can be generated.
Family and developmental history may provide useful information regarding several parameters that can
have an impact on learning, and the childs pediatrician
can be a valuable member of the evaluation team. A review of school history and observations obtained from
past and present teachers can yield valuable diagnostic
information, especially when direct observation of the
child in the classroom is unfeasible: Does the child exhibit particular patterns of performance over time and
across subject areas? Are the problems long-standing?
When did they begin to emerge? Under what circumstances do they occur?
The student is another valuable source of information. Self-ratings and descriptions of abilities in subject
areas, modes of processing and expressing information, teaching techniques, materials that facilitate or
impede learning, methods of studying, athletic and
social skills, and general areas of interest can yield
clues to preferred learning styles, learning difficulties,
organizational skills, study habits, and metacognitive
awareness. Structured student interviews (Alley et al,
1981; Levine, 1988, 1994; Wiener, 1986) are a helpful
addition to a diagnostic educational evaluation. Even
simple comments made in response to questions about
school or to particular test items can be diagnostically
revealing.
Student
Core Functions
Affinities
interacting with
School
Content
Basic Skills
Context
yields
Performance
modified by
Experience
Physical
Factors
Social/Emotional
Status
Motivation
Interventions
Accommodations
A fine-tuned, direct examination of academic functioning is a four-dimensional process that (1) assesses
specific skill acquisition and application; (2) reflects the
developmental aspect of learning and changing demands
on neurodevelopmental processing abilities imposed by
the curriculum, teaching methods, task formats, and
educational environment; (3) includes observation and
analysis of behavior, error patterns, and performance
strategies; and (4) incorporates student interests, affinities, and processing strengths and weaknesses. Tasks
and materials used in the evaluation for the most part
should be similar to those used in the classroom; however, novel tasks may provide insight into a students
problem-solving abilities, use of strategies, and generalization of learning (Silver, 1989; Swanson, 1991).
ASSESSMENT PARAMETERS
AND INTERPRETATION OF PERFORMANCE
Table 82-2 defines the basic parameters of educational
assessment. Evaluation of each parameter is discussed
within an evolving educational timetable, an adaptation
of the stages of reading described by Chall (1983).
Stage I (kindergarten to first half of second grade)
is a period of skill acquisition. Emphasis is on learning
the tools or codes of reading, writing, and mathematics. Learning is a bottom-up process in which content
meaning is of relatively little importance. The focus of
assessment is on the mechanics of reading, writing, and
mathematics.
In reading, emphasis is given to evaluation of decoding skills, including phonologic awareness, symbol
identification, knowledge and application of lettersound associations, and sight word recognition. Confusions of letters that are similar in general form (b/d, p/q,
m/w/, n/h/u) are common. In most cases, these confusions do not represent a visual-perceptual problem and
usually reflect lack of visual attention, impulsiveness,
weak spatial appreciation, or perhaps weakness in retrieval memory.
Most reading is oral, and the focus is on decoding
accuracy. Typically at this stage, children rely heavily
onsight recognition in reading, and errors tend to be
substitutions based on whole word configuration or
prominent visual elements. Comprehension commonly is
measured by the ability to respond to specific questions.
Problems may reflect weaknesses in receptive language,
retrieval memory, or working memory.
Listening skills are crucial to successful performance
in the classroom and are more regularly included in
updated editions of standard educational assessment
batteries. Having the child repeat sentences of varying
length and syntactic complexity provides an indication
of short-term retention capacity. Listening is a passive
task and easily influenced by strength and length of attention. In the presence of poor listening skills, deficiencies in attention also warrant investigation.
Copying and handwriting skills are given highest
priority. In view of the value placed on copying and
neatness of writing, assessment of pencil grasp, pencil
control, and motor patterns used to execute letter formations is very important.
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Part IX ASSESSMENT
Listening
Comprehension and recall of orally presented information; sentence repetition; following directions; summarization; response to questions
(see under Reading); salience determination; narrative versus expository content; length; rate of processing; attention span
Writing
Spelling
Recognition (multiple choice) versus retrieval (dictation); rule application; application of word analysis skills (see under Reading); error
patterns (phonetically correct or incorrect, visual configuration similarity, letter omissions, transpositions, impossible letter combinations)
Alphabet Writing
Knowledge of letter sequence and formations (manuscript and cursive); automaticity; reversals; method of forming letters
Copying
Visuomotor integration with reduced memory; rate; accuracy (omissions, additions, loss of place); spatial organization; legibility;
handwriting; proofreading
Sentence Dictation
Memory of content; spelling; application of writing mechanics; handwriting
Proofreading
Recognition and correction of errors in spelling and writing mechanics (punctuation, capitalization, word usage, syntax, sentence structure);
rule knowledge and application
Written Summary
Recall and organization of salient information; spelling; mechanics; proofreading; handwriting; rate of production; synchrony of subskills
Composition
Ideational fluency, elaboration, and organization; vocabulary; spelling; writing mechanics; syntactic maturity; usage; proofreading; rate of
production; synchrony of subskills; narrative versus expository fluency
Handwriting
Pencil grasp; pressure and control; motor planning and patterns of forming letters; fluency; rate; legibility (accuracy of letter forms,
consistency of size and spacing); automaticity
Word Processing
Knowledge of and fluency in use of a keyboard; composition skills (see under Composition); skill in use of commands; use of spelling and
grammar checking; use of organizational software
Mathematics
Basic Concepts
Symbol recognition; counting; one-to-one correspondence; symbol-quantity associations; number sequencing; forming numbers (patterns,
reversals); number vocabulary; clock time, money, units of measurement
Math Facts
Addition, subtraction, multiplication, and division; automatically and recall; use of concrete counting strategies
Basic Computation
Addition, subtraction, multiplication, and division with whole numbers, regrouping, decimals, and fractions; knowledge of correct
algorithms; understanding of place value and regrouping; sequence of procedural steps; computation accuracy (fluency in recall of facts,
use of counting strategies, alignment, attention to signs); legibility; self-monitoring
Advanced Computation
Understanding of fraction/decimal/percent equivalence; understanding of abstract symbols; solving equations for unknowns; computation
with signed numbers; geometric functions and proofs; square roots; trigonometric functions; technical vocabulary; abstract, nonverbal
reasoning; conceptual grasp of quantity and estimation skills
Word Problems
Reading skills; understanding of language; identification of salient information; selection of necessary operations and sequence of steps;
equation construction; computation accuracy; self-monitoring; estimation skills; appreciation of quantitative relationships; logical
reasoning; flexibility; use of alternative strategies
823
intent, and evaluation of saliency must be executed simultaneously and translated into some form of note
taking.
Written expression becomes paramount for academic
success. Writing must be used for a variety of purposes and includes different textual formats. Ideational
fluency, elaboration, easy retrieval of vocabulary, and
appreciation of language usage are essential (Warden
and Hutchinson, 1992).
Success in mathematics depends heavily on abstract, logical reasoning; appreciation of quantitative
and spatial relationships; understanding of concepts of
equivalence and proportion; and cumulative, sequential
memory.
Although students are often introduced to foreign
language in kindergarten, it now becomes an integral
part of the curriculum and a requirement for students
planning to go on to college. Examination of the students history in acquisition of speech, reading, spelling,
and writing skills can provide valuable insights into the
nature of difficulties in learning a second language.
Issues regarding attention may have their onset before school entry or may surface at any point during the
school years or adulthood in response to the escalating
demands of the curriculum, modes of instruction and
production, or job requirements. It is crucial that any
assessment of a student who is struggling in school or
an adult who is experiencing difficulties in a job or daily
activities include examination of attention capacities.
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Part IX ASSESSMENT
TECHNIQUES OF ACCOMMODATION
First priority should be given to seeking out ways
through which the child can experience success and
avoid humiliation in front of peers. Specific talents
should be exploited. Table 82-4 outlines basic categories of classroom accommodations and bypass strategies
(Levine, 1994) that can improve a students functional
academic capability. Accommodations include assistive
825
SUMMARY
The processes of learning are highly complex and subject
to individual variations in background,
development,
response to content, instructional methods, and educational environments. Learning differences and problems are multifaceted. They do not begin with entry
into school, and they do not end when the first hurdle
is surmounted. They can result from a wide variety of
causes and do not always reflect a disability. In addition, the multiplicity and variability of testing practices
and assessment instruments often render inconsistent or
conflicting results regarding student mastery of skills,
academic progress, diagnoses, and eligibility for programs and services. Nevertheless, whenever and as long
as a student experiences difficulties or frustration in the
learning process, it needs to be addressed seriously. Lack
of motivation is rarely the original cause of a students
struggle in learning, but often may be the result if aid
is not provided. Educational assessment and management should be viewed as ongoing, evolving processes
through which a students academic progress is closely
monitored, learning patterns are analyzed, interventions
are implemented and adjusted, and accommodations are
provided to allow successful participation in regular education and enable the child to meet evolving academic
expectations and his or her own learning potential.
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Part IX ASSESSMENT
Example
Physical arrangementalteration
of seating and classroom furnishings
to reduce distractions and facilitate
student performance
Preferential seating: near to teacher; near to board; away from doors, windows, and noisy
areas; among good role models
Reduce amount of bulletin board and classroom display
Study carrel, single desk versus table
Take tests in separate room
Highlighted textbooks
Selective sampling of task items (every odd number)
Shorter reports
Not grading for spelling and mechanics when demonstration of knowledge is important
Setting up the equation for solving a problem without having to perform the calculation
Format change
Presentation of information in modes
that facilitate understanding
Evaluation modificationdifferent
systems for assessing performance
REFERENCES
Aaron PG, Baker C: Reading Disabilities in College and High School:
Diagnosis and Management. Parkton, MD, York Press, 1991.
Algozzine B, Ysseldyke J: The future of the l.d. field: Screening and
diagnosis. J Learn Disabil 19:394, 1986.
Alley GR, Deshler DD, Warner MM: The Bayesian Screening Procedure
for Identification of Learning Disabled Adolescents: Administration,
Scoring and Interpretation. Monograph no. 10. Lawrence, University of Kansas, Institute for Research in Learning Disabilities, 1981.
American Educational Research Association; American Psychological
Association; National Council on Measurement in Education: The
Standards for Educational and Psychological Testing. Washington,
DC, AERA Publications, 1999.
American Psychological Association: Diagnostic Criteria from DSMIV. Washington, DC, 1994.
American Psychological Association: How Should Student Learning
and Achievement Be Measured? 2006. Available at: www.apa.org/
pubinfo/testing.html.
Bragstad BJ, Stumpf SM: A Guidebook for Teaching Study Skills and
Motivation. Boston, Allyn & Bacon, 1987.
Chall JS: Stages of Reading Development. New York, McGraw-Hill, 1983.
Chapman A (ed): Making Sense: Teaching Critical Reading Across the
Curriculum. New York, College Board Publications, 1993.
Deshler DD, Ellis ES, Lenz BK: Teaching Adolescents with Learning
Disabilities, 2nd ed. Denver, Love Publishing, 1996.
Freeman DJ, Kuhs TM, Knappen LB, et al: A closer look at standardized tests. Arithmetic Teacher 29:50-54, 1982.
827
83
NEUROPSYCHOLOGICal
ASSESSMENT OF THE
DEVELOPING CHILD
Jane Holmes Bernstein
DEFINITION OF NEUROPSYCHOLOGY
Neuropsychology is the study of brain-behavior relationships. The knowledge base for neuropsychology has
been, and continues to be, derived from studies of behavior and behavior changein humans and other animals;
in infants, juveniles, adults, and elders across species; in
sickness and in health; following lesions that occur naturally and lesions that are created under laboratory conditions; in free-field situations and in laboratory-based
experimental paradigms, with or without concomitant
828
use of neurodiagnostic techniques; in the context of atypical development in the course of disease; and in the case
of failure of acquisition of expected skills under conditions of expectable experience (Banich, 1997; Kolb and
Wishaw, 2003; Zillmer et al, 2007).
The clinical application of neuropsychological principles has changed the way in which childrens behavior
is evaluated. Psychological evaluation has given way
to neuropsychological evaluation and psychoeducational evaluation. In the clinical setting, neuropsychology is not simply a set of (more) tests. Third-party
payers reimbursement schedules notwithstanding,
neuropsychological testing is itself arguably a misnomer. The instruments used to measure behavior are
psychological tests. What makes a clinical evaluation
neuropsychological is the ability of the clinician to make
inferences about the central nervous system from observation of behavior.
In the clinical setting, application of neuropsychological principles has implications for the design of the
assessment, most notably that it be appropriately inclusive of the range of functional skill that the brain
supports. The basic neuropsychological assessment
goes beyond the IQ and visuomotor tasks of traditional
psychological measurement to include a comprehensive analysis of behavioral domains. In our approach
(Bernstein, 2000; Bernstein et al, 2005), this analysis is
achieved by a review of neurobehavioral systems (behavioral domains) that yields qualitative and quantitative data pertaining to emotional status, sensorimotor
function, perceptual abilities, higher order information
processing, cognitive level, and regulatory capacity.
The target outcomes are not just academic success, but
encompass the daily living skills, vocational and academic skills, and psychosocial competencies needed for
optimal adaptation as an independent individual at
the maximum level possible. A broad range of tools
and techniques are employed in this endeavor, and
create a problem of data management (Tversky and
Kahneman, 1974) that the clinician must address
(Bernstein, 2000). Table 83-1 presents an overview of
behavioral domains, data sources, tools and techniques,
and test variables.
829
Table 83-1. Behavioral Domains, Data Sources, Data Types, Tools and Techniques, and Test Variables
Behavioral Domains
Data Sources
Data Type
Tools/Techniques
Test Variables
Arousal
Attention
Motivation
Memory
Learning
Executive control
Exploratory capacities
Communication
Language
Speech
Visuospatial processing
Sensory capacities
Motor skills
Social processing
Social cognition
Emotional status
Temperament
Personality characteristics
History
Family
Demographic
Medical
Educational
Psychological
Child
Developmental
Medical
Educational
Psychological
Observation
Direct
In free field
In test setting
Indirect
Interview
Telephone consultation
Tools/techniques
Qualitative
Quantitative
Analytic interviewing
Systematic observation
Task analysis
Clinical limit testing
Dynamic assessment
Psychological tests
Educational tests
Behavioral rating scales
Developmental
questionnaires
Psychometric data
Levels of performance
Profiles of performance
Behavioral data
Elicited behaviors
Problem-solving strategies
Task analysis data
Task complexity
Systemic variables
REIMBURSEMENT OF NEUROPSYCHOLOGICal
SERVICES
Neuropsychological evaluation and assessment services
are typically reimbursed at an hourly rate, which varies by geographic location, service location, negotiated
contracts between insurance carriers and providers, and
individual contracts with providers and education authorities or parents or both. Management/therapeutic
services are billed and reimbursed in 15-minute units.
The amount of time required to provide the service varies by (1) the nature of the information required to address the referral question, (2) the ability of the child to
manage the demands of the evaluation (because of young
age, lack of stamina, slow processing rate, dysregulated
behavior), (3) the competence of the child in establishing
baselines for psychological test scores, (4) the need for
in-depth exploration of a particular behavioral domain,
(5) the indication for detailed analysis of personality variables or emotional status or both, and (6) the availability
of recently obtained psychological test data. Table 83-2
provides an approximate range of times per service for
commonly requested neuropsychological evaluation services. The time-consuming nature of psychological test
administration is documented in Table 83-3.
THE NEUROPSYCHOLOGIST
In contrast to medicine, psychology does not require
board certification for the practice of a psychological
specialty. A report entitled report of neuropsychological
testing (or evaluation or assessment) can be produced by
any psychologist. There are nonetheless three examining
boards in clinical neuropsychology that evaluate competence for specialty practice in this area: the American
Board of Clinical Neuropsychology, a member board
of the American Board of Professional Psychology; the
American Board of Pediatric Neuropsychology; and the
American Board of Professional Neuropsychology.
Differences in background and training among individuals offering neuropsychological services have led to
Nature of Service
2-4
3-8
4-10
8-16
*Forensic
IQ test
Selected language measures
Verbal learning
Memory scale
Complex figure copy
Continuous performance test
Finger dexterity
75 min
20 min
20 min + delay trials
35 min + delay trials
8 min
20 min
5 min
arange of applications of the neuropsychological knowledge base. Following a referral for neuropsychological
services, the pediatrician can expect to receive a text labeled report of neuropsychological testing/evaluation/
assessment. The pediatrician can expect a description
of the childs performance on a range of tasks tapping
regulatory, cognitive, social, emotional, and sensorimotor capacities, and current achievement. There is, however, no guarantee that the physician will receive more
830
Part IX ASSESSMENT
than a psychological analysis, that is, a more or less detailed analysis of the cognitive architecture (with no reference to the underlying brainwhether or not a brain
condition is present).
Alternatively, the report may reflect a neuropsychological analysis in that the detailed description of the cognitive architecture is related specifically to brain systems,
stating (where relevant) which behaviors are and are not
consistent with a documented brain condition. Even here,
however, the developmental-behavioral pediatrician may
look in vain for the developmental context of the particular childs experience. This requires a different analysis,
integrating knowledge of the childs developmental
course to date, his or her profile of strengths and weaknesses, the contexts in which he or she operates, and the
impact of the disorder (where relevant). This analysis is
the basis on which the clinician characterizes the individual childs risks and protective factors and seeks to optimize the childs outcome by predicting future expectable
challenges and creating a management plan to maximize
the childs ongoing progress (Bernstein, 2000).
A good neuropsychological assessment provides a coherent description of the child; diagnostically relevant
information; interpretation between physician and parents and educational system regarding the impact of the
childs medical condition on his or her behavior; and a
management plan to address the childs needs medically
(where relevant), in the family setting, in school, and
in the community. An inadequate neuropsychological
evaluation often provides a lengthy list of test performances, no integrated diagnostic formulation, and no
logical relationship between the diagnostic formulation
and the recommendations.
Examples
Simple genetic
syndromes
Complex genetic
syndromes
Structural brain
abnormalities
Acquired insults
Other disease insult
Unavoidable
treatment-related
iatrogenic insult
Guilford Press,
1999.
neuropathologies of childhood can benefit from a comprehensive neuropsychological assessment. Such neuropathologies are presented in Table 83-4.
The disorders for which neuropsychological analysis
is appropriate are not only disorders that involve medical conditions. Neuropsychological assessment is now
regularly sought for children whose presenting complaints involve academic skills and for children whose
development has been threatened by early traumatic
experiences (emotional, social, physical), the impact of
which on developing biologic systems is being increasingly recognized (Nelson, 2000).
PRACTICE OF NEUROPSYCHOLOGY
Diagnostic Environment
Neuropsychology is practiced within four different
frequently complementarynosologic frameworks:
medicine (referenced to the biologic substrate for disease), psychiatry (framed in terms of the behavioral
clusters that are given status as disorders under the rubric of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition [American-Psychiatric
Association, 1994]), neuropsychology (referenced to
brain-behavior relationships), and education (framed as
failures of acquisition of expected academic and related
skills under typical conditions of exposure). Under the
influence of neuropsychology, the interaction of these
nosologic frameworks has led to a shift from an earlier
characterization of learning disabilities, whereby deficits
in childrens functioning were characterized primarily as
they were manifest in the school context, to a more encompassing label, learning disorders, which reflects the
role of the brain in learningor not learningthe full
range of behaviors that it supports. Learning disorders
are framed in terms of biology (structural anomalies,
genetic syndromes, acquired brain injury), psychological processes (disorders whose core symptoms suggest
disruption of more or less specific behavioral systems
that support attention, language, visuospatial functioning, social skills, and executive processes), behavioral
clusters (attention-deficit disorder with and without hyperactivity, nonverbal learning disorders, Asperger syndrome), and manifest symptoms in particular settings
(failure to acquire reading, math, organization, and social comportment skills as expected).
Theoretical Framework
The clinical neuropsychologist works within a theoretical framework that includes a theory of the organism
itself, a theory of the potential disorders that affect children, and a theory of the assessment process. Knowledge
831
of pedagogic theory also is important for the neuropsychologist in his or her role as a member of the childs
treatment team.
A neuropsychological analysis starts with the premise that the organism in question, a human child, has
a brain. Brains depend for their structure and their
function in supporting behavior on interaction with a
variety of expectable contexts. This necessary braincontext interaction is continually updated and shaped
over the course of development. Analysis of behavior
is scrutinized within this brain-context-development
matrix (Bernstein, 2000).
A theory of the potential disorders (see Table 83-4)
that can affect childrens behavior and ongoing development is crucial to understanding perturbation or change
in the way the child is developing. Different disorders
involve different pathologic processes that can be relatively limited in their effects (at least initially) or can involve brain functioning system-wide. The occurrence of
these disorders in the pediatric population entails, however, that they all occur in the context of dynamic change
over the course of development. All of these disorders
have potential for derailing behavioral development and
changing behavioral outcomes. Genetic and structural
disorders set up conditions for alternative developmental trajectories from the beginning of the childs interactions with the environment. Later acquired derailments
have potential for resulting in so-called late effects.
The pathology is or becomes part of the developmental course with importantnot yet fully understood
implications for the understanding of brain-behavior
relationships in the developing child.
The neuropsychologist not only must address the issue of potentially altered brain organization, but also
must factor in the degree to which the insult is focal or
systemic. The effects of more or less focal insults are
likely to be reflected in disturbance of specific cognitive
systems, but also can change the development of the
system overall. Children with more or less focal insults
typically stay on developmental track; their overall
cognitive level stays with that of their peers. Specific
cognitive issues are associated with specific deficits.
Evidence of right hemisphere dysfunction accompanies
deficits in conceptual organization, big picture thinking, math, social understanding, and aspects of attention. Evidence implicating left hemisphere dysfunction
is associated with deficits in oral and written language,
math, and sequential organization. Language deficits
may lead to reading disability and to deficits in linguistic aspects of math.
Systemic insults, in contrast, typically undermine regulatory processes (attention and executive processes).
Children may have difficulty maintaining state and
managing the expectable sensory load of their environment; they may struggle to modulate emotion and fail
to acquire age-expected control over motor and verbal
activity. They are often off developmental track with
cognitive level as indexed by psychometric tasks, typically declining relative to peers over time. Such children
frequently are not skill poor under structured conditions, which can mask their need for educational services. Their major problem is one of overall behavior
832
Part IX ASSESSMENT
regulation secondary to pervasive problems with inhibitory control. Social behavior in particular is a significant problem; in contrast to written text that stays on
the page and can be worked and reworked, the on-line
nature of processing and responding to socially relevant
information cannot easily be accommodated in any sort
of structured format.
The impact of systemic insults interacting with developmental time itself shapes neural and behavioral pathology down the line. Developing skill-plus-insult can lead to
a specific neuropsychological deficit later (Shaheen, 1984;
Waber et al, 1992). Developing skill-plus-experience that
is out-of-sync can lead to compromise of sequential skill
development (see Dennis [1988, 1989] for an elegant
analysis of the skills and deficits associated with the unhindered and perturbed acquisition of skills). Recognition of the potential threats to normal development is a
crucial component of the pediatric neuropsychologists
training. Understanding the nature of the interactions of
disorders and their treatments with normal developmental expectations is frequently the most important factor
for outlining effective interventions (see Bernstein and
Weiler [2000] for a discussion of the interaction with development of the multiple impacts of disorder and treatments in the case of myelodysplasia).
Knowledge Base
The rapidly developing knowledge base in the developmental neurosciences also is changing the way in which
neuropsychology with children is practiced. Analysis of
the components of specific behavioral domains using
cutting-edge neurodiagnostic tools is becoming increasingly detailed and complements the findings of careful
investigations of behavioral breakdown in the neuropathologies of childhood. The research program of Posner
and colleagues has identified separable components of
attention, validated them via functional imaging, documented differences in developmental trajectories for
different components, and shown that different components respond differentially to interventions (Posner
and Rothbart, 2007). Complementary to this work is
the clinical research program of Dennis and colleagues
(2005), who have examined the attentional capacities
of children with spina bifida and shown different types
of attentional breakdown in this populationwith implications for medical and behavioral management. The
identification of specific attentional difficulty is important for clinical practice. Equally close parsing of behavioral competencies in language, social information
processing, and regulatory functioning can be expected
to contribute to better understanding of disordered behavior and to the development of targeted intervention
paradigms to promote childrens progress.
CLINICAL EXAMPLES
The brain-context transaction that is the core of the
clinical analysis provides the framework for the interpretation of behavioral data. It entails that the brain
must be scrutinized as a dependent and an independent
variable (Bakker, 1984). The apparent meaning of psychological test scores also needs to be scrutinized in light
833
Academic-Vocational
Social-Emotional
Listening, learning in
theclassroom
Content
Reading decoding/fluency
Reading comprehension
Written expression
Math
Listening, participating
in peer groups/
activities
Self-regulation
834
Part IX ASSESSMENT
SUMMARY
Assessment of a developing child in a neurodevelopmental framework can promote the childs progress and
improve outcomes in significant ways. It requires, however, that the design and methodology of the assessment
process be scrutinized and updated where indicated to
do justice to the expanding knowledge base in the developmental neurosciences in the context of current requirements of evidence-based practice. Such assessment
takes time: Consumers often query why? Table 83-6
offers answers to frequently asked why? questions.
REFERENCES
American Psychiatric Association: Diagnostic and Statistical Manual
of Mental Disorders, 4th ed. Washington, DC, American Psychiatric Association, 1994.
Bakker DJ: The brain as dependent variable. J Clin Neuropsychol 6:
1-16, 1984.
Banich MT: Neuropsychology: The Neural Basis of Mental Function.
Boston, Houghton Mifflin, 1997.
Bernheimer LP, Keogh BK: Weaving interventions into the fabric of
everyday life: An approach to family assessment. Top Early Child
Spec Ed 15:415-433, 1995.
Bernstein JH: Developmental neuropsychological assessment. In
Yeates KO, Ris DM, Taylor HG (eds): Pediatric Neuropsychology: Research, Theory, and Practice. New York, Guilford Press,
2000, pp 405-438.
Bernstein JH, Kammerer B, Prather PA, Rey-Casserly C: Developmental neuropsychological assessment. In Koocher GP, Norcross JC,
Hilt SS (eds): Psychologists Desk Reference, Vol 2. New York,
Oxford University Press, 2005, pp 28-32.
Bernstein JH, Weiler MD: Pediatric neuropsychological assessment examined. In Goldstein G, Hersen M (eds): Handbook of
Psychological Assessment, 3rd ed. Amsterdam, Pergamon, 2000,
pp 263-300.
Dennis M: Language and the young damaged brain. In Bolt T,
Bryant BK (eds): Clinical Neuropsychology and Brain Function.
Washington, DC, American Psychological Association, 1988,
85-123.
Dennis M: Assessing the neuropsychological abilities of children
and adolescents for personal injury litigation. Clin Neuropsychol
3:203-229, 1989.
Dennis M, Edelstein K, Copeland K, et al: Covert orienting to exogenous and endogenous cues in children with spina bifida. Neuropsychologia 42:976-987, 2005.
Dlugos DJ, Moss EM, Duhaim, A-C, Brooks-Kayat AR: Languagerelated cognitive declines after left temporal lobectomy in children.
Pediatr Neurol 21:444-449, 1999.
Holmes JM: Natural histories in learning disabilities: Neuro
psychological difference/environmental demand. In Ceci SJ (ed):
Handbook of Cognitive, Social and Neuropsychological Aspects of
Learning Disabilities. Hillsdale, NJ, Erlbaum, 1987, pp 303-319.
Holmes-Bernstein JM, Waber DP: Developmental neuropsychological assessment: The systemic approach. In Boulton AA, Baker
GB, Hiscock M (eds): Neuromethods, Vol 17: Neuropsychology.
Clifton, NJ, Humana Press, 1990.
835
84
What we observe is not nature in itself but nature exposed to our method of questioning.
Werner Heisenberg
GENERAL PRINCIPLES
When attempting to order a differential diagnostic
process into likely and unlikely possibilities, history
and physical examination are the crucial parameters.
836
837
Not dysmorphic
Gray matter
White matter
Visceromegaly
Microcephaly
Peripheral
No
Yes
No
Yes
GM1
gangliosidosis
Farber
disease
Alexander disease
Infantile Krabbe
disease
Fabry disease
GM2
gangliosidosis
(Tay-Sachs disease;
Sandhoff disease)
NiemannPick
disease
Canavan
disease
Late infantile
metachromatic
leukodystrophy
Refsum disease
Neuronal
ceroid
lipofuscinosis
Pompe
disease
PelizaeusMerzbacher
disease
Aminoacidopathies,
organic
acidemias
Infantile
Gaucher
disease
Adrenoleukodystrophy
Juvenile or
adult metachromatic
leukodystrophy
Mitochondrial
disorders
Figure 84-1. Algorithm for differential diagnoses of white matter and gray matter disease.
Dysmorphic features
Multiple congenital anomalies
Positive
Negative
Mucopolysaccharidoses
Oligosaccharidoses
No
Yes
Increased
Normal
Scheie syndrome
Hurler syndrome
Sialidosis
Fucosidosis
Morquio disease
Hurler-Scheie syndrome
I-cell disease
Mannosidosis
Maroteaux-Lamy
syndrome
Hunter syndrome
Aspartylglycosaminuria
Sanfilippo syndrome
Mucolipidosis IV
Beta-glucuronidase
deficiency (Sly syndrome)
Multiple sulfatase deficiency
Figure 84-2. Algorithm for differential diagnoses in a child with dysmorphic features, such as Cornelia de Lange syndrome.
838
Part IX ASSESSMENT
Vignette
A 35-month-old boy is brought to the office for
evaluation of irritability and developmental delay.
The boys mother, a 27-year-old primigravida, had
had an uncomplicated pregnancy, labor, and delivery.
His parents are nonconsanguineous; neither is Jewish,
and both are of mixed Western European ancestry.
The boy sat at age 6 months, walked at 17 months,
never ran, and has recently begun stumbling. His first
words emerged shortly after his first birthday, and he
spoke in phrases by 2 years of age. Lately, however, his
parents note that he has become difficult to understand
and drools. Review of his history does not suggest
seizures. Examination shows a nondysmorphic boy
whose head circumference is at the 10th percentile.
Old records suggest it was at the 50th percentile at
birth and throughout the first year of life. When the
child is suspended under the arms, his legs scissor.
Deep tendon reflexes are absent in the legs, although
the parents report that the last pediatrician had no
difficulty obtaining them at the 2-year visit. Both great
toes go up when the soles are stroked.
s uggest a white matter disease. This suggestion is buttressed by the developing dysarthria and apparent late-onset peripheral neuropathy (drooling and poor articulation
and absent reflexes). One can note the presence of microcephaly. The differential diagnosis can be narrowed to
two probabilities: infantile Krabbe disease and late infantile metachromatic leukodystrophy. Before embarking on
enzymatic diagnostic tests, however, one would be well
advised to check this differential diagnosis by the application of the first general diagnostic principle.
The suspicion of white matter disease given this picture is quite high, and the consideration of gray matter
disease is not warranted. The head circumference data
are, however, potentially soft because old records for
well-child examinations are fraught with inconsistent
recordings of head circumference. A series of referential and inferential tests would help confirm or deny the
leading clinical possibilities.
White matter disorders usually are associated with an
elevation of cerebrospinal fluid (CSF) protein without increased CSF cell count, and CSF examination would be
the referential test of choice. The inferential physiologic
test of choice would be electromyography and nerve
conduction studies because most white matter diseases
are accompanied by a peripheral neuropathy. This was
suspected on the basis of clinical examination, and confirmation of this suspicion would validate the proposed
differential diagnosis. The inferential anatomic test of
choice would be MRI. Most white matter disorders
show striking abnormalities on MRI because of this techniques great sensitivity to altered water content in tissue. In addition, four of the five nonmicrocephalic white
matter disorders (Canavan disease, Alexander disease,
Pelizaeus-Merzbacher disease, and adrenoleukodystrophy) have characteristic, if not pathognomonic, appearances on MRI. Use of the test would help to determine
the validity of the original path through the diagnostic
schema (i.e., toward a differential diagnosis between
Krabbe disease and metachromatic leukodystrophy).
For the child in the vignette, use of this approach
yielded the following results: increased CSF protein content, delayed nerve conduction velocities, and abnormal
signal intensity in a nonspecific pattern on T2-weighted
images of brain MRI. These results argue strongly for the
process being either infantile Krabbe disease or late infantile metachromatic leukodystrophy. The final step in the
diagnostic procedure would be tests for blood levels of
galactosylceramidase (altered in Krabbe disease) and arylsulfatase A (altered in metachromatic leukodystrophy).
ELECTROPHYSIOLOGIC METHODS
Electroencephalography
Electroencephalography has a long history in pediatric neurology practice, which is elegantly reviewed by
Holmes (1987). It is of great use in the diagnosis of seizure disorders and may be useful in the evaluation of encephalopathic states. The clinician should be aware of the
reference laboratorys familiarity and comfort with pediatric patients; electroencephalographic technical production and interpretation are notably operator dependent.
Evoked Potentials
The methods of somatosensory, visual, and auditory
evoked potentials are generally applicable to children.
Although normative data are still being developed in
some age groups, the technique has applicability for auditory function evaluation, testing in certain settings of
autism spectrum disorders as noted earlier, and in the
assessment of various demyelinating conditions, such as
multiple sclerosis.
839
ANATOMIC METHODS
Ultrasonography
Cranial ultrasonography is the brain imaging screening
technique of choice for fetuses and newborns (Hill and
Volpe, 1989; Volpe, 1987). The window provided by
the anterior fontanel provides the opportunity for excellent imaging without reconstruction in the sagittal,
coronal, and horizontal planes. Periosteal and parameningeal regions are poorly imaged because of the angle
with respect to the transducer and the echogenic properties of bone. Cranial ultrasonography images ventricular diameter, major malformations and dysgeneses, and
intraparenchymal hemorrhages well, whereas subarachnoid and subdural fluid collections are poorly imaged.
Computed Tomography
CT is the imaging screening technique of choice for children younger than 10 months old (Barnes et al, 1990).
It has the capacity to determine structural relationships
in the horizontal plane directly and, with some difficulty, in the coronal plane. Sagittal views are produced
through reformatting.
Limitations of CT scanning include poor imaging of
the white matter compared with MRI and poor delineation of brainstem and cerebellar features. Bone can be
simultaneously imaged, in contrast to MRI. Blood and
blood-containing structures are well visualized on CT
scans, and delineation is improved with intravenous administration of contrast media. The reader is referred to
Barnes and colleagues (1990) for an exhaustive review
of neuroimaging in pediatric practice.
DIRECT MEASUREMENTS
Cerebrospinal Fluid Examination
CSF for examination is usually obtained with a lumbar
puncture. Contraindications for lumbar puncture in
children are few; posterior fossa mass, acute lead intoxication, Reye syndrome, and brain abscess are viewed as
close to absolute contraindications because of the propensity of these situations to produce a pressure cone
840
Part IX ASSESSMENT
Quantitative Assays
Biopsies
This chapter reviews the methods available for investigating the central nervous system function in a child, with
particular attention to disorders of development. The advantages and disadvantages of inferential and referential
measures are considered and the methods reviewed.
Tissue samples that provide direct morphologic data regarding the nervous system are an increasingly useful
part of the clinicians armamentarium. Skin biopsy is of
particular use in the diagnosis of diseases that produce
intraneuronal inclusion material, such as neuraxonal
dystrophy or neuronal ceroid lipofuscinosis (Carpenter
et al, 1972). Skin biopsy specimens contain high concentrations of small nerve elements and sweat gland duct
cells, which are useful because of the pathognomonic
changes they show in certain conditions. Although light
microscopy may provide some information, electron microscopy is more often the modality that provides the
greatest insight into structural alterations. Methodologies for optimal technical conditions under which skin
is obtained, preserved, and examined are reviewed elsewhere (Carpenter and Karpati, 1981).
Muscle biopsy is the test of choice for the evaluation
of some suspected myopathies and mitochondropathies
(Dubowitz and Brook, 1973). Structural evaluation with
light and electron microscopy may yield pathognomonic
features diagnostic of certain myopathic processes, including nemaline rod myopathy, central core disease,
and the mitochondrial encephalomyopathies. In other
instances, such as the muscular dystrophies, structural
abnormalities may be consistent with, but not diagnostic of, the suspected disorder. Molecular diagnostic
techniques evaluating cellular DNA are now generally
considered more useful (Kunkel, 1986). The reader is
referred to Jones
and colleagues
(2003) for a complete
discussion of muscle biopsy. Finally, biochemical evaluation of muscle tissue for electron transport chain abnormalities is available in certain centers.
Nerve biopsy, separate from the examination of small
nerve elements in skin biopsy, is useful in suspected peripheral neuropathies in childhood. The sural nerve, a
pure sensory nerve accessed on the dorsal aspect of the
foot, is usually the nerve of choice for biopsy. Structural
analysis, including light and electron microscopy, is the
usual diagnostic method. Teased fiber analysis, first
used in the evaluation of adult peripheral neuropathies,
is now coming into use in pediatric neurology (Gibbels
et al, 1985).
Conjunctival biopsy is used for essentially the same
indications as skin biopsy. For the clinician, the choice
between skin and conjunctival biopsy is based on the
expertise of the local reference laboratory. That is, one
should obtain the sort of biopsy specimen ones pathologist likes to examine.
Summary
REFERENCES
Amen, DG: Making a Great Brain Better. New York, Three Rivers
Press, 2005.
Barnes PB, Urion DK, Share K: Clinical principles of pediatric
neuroradiology and MR imaging. In Wolper R, Barnes PB, Strand
RD (eds): MR in Pediatric Neuroradiology. St Louis, Mosby,
1990, pp 175-182.
Barringer R: A simplified procedure for spinal fluid cytology. Arch
Neurol 22:305, 1970.
Biederman J, Monuteaux MC, Mick E, et al: Young adult outcome
of attention deficit hyperactivity disorder: A controlled ten year
follow-up. Psychol Med 36:167-169, 2006.
Bresnan MJ: Degenerative disorders. In Weiner H, Levitt L, Bresnan
MJ (eds): Pediatric Neurology for the House Officer, 2nd ed.
Baltimore, Williams & Wilkins, 1986.
Carpenter R, Karpati G: Sweat gland duct cells in Lafora body disease:
Diagnosis by skin biopsy. Neurology 31:1564, 1981.
Carpenter R, Karpati G, Andermann F: Specific involvement of
muscle, nerve, and skin in late infantile and juvenile amaurotic
idiocy. Neurology 22:170, 1972.
Cole M: Examination of the CSF. In Toole J (ed): Special Techniques
for Neurologic Diagnosis. Philadelphia, FA Davis, 1969.
Dubowitz V, Brook MH: Muscle Biopsy: A Modern Approach.
Philadelphia, WB Saunders, 1973.
Gibbels E, Schaefer HE, Runne U, et al: Severe polyneuropathy in
Tangier disease mimicking syringomyelia or leprosy: Clinical,
biochemical, electrophysiological, and morphological evaluation.
J Neurol 232:283, 1985.
Hill A, Volpe JJ: Fetal Neurology. New York, Raven Press, 1989.
Holmes OH: Diagnosis and Management of Seizures in Children.
Philadelphia, WB Saunders, 1987.
Jones HR, DeVivo D, Darras BT: Neuromuscular Disorders of Infancy,
Childhood, and Adolescence: A Clinicians Approach. Oxford,
UK, Butterworth/Heinman, 2003.
Jordan GW, Statland B, Halsted C: CSF lactate in diseases of the CNS.
Arch Intern Med 143:85, 1983.
Kunkel LM: Analysis of deletions in DNA in patients with Becker and
Duchenne muscular dystrophy. Nature 322:73, 1986.
Stefanatos GA, Foley C, Grover W, Doherty B: Steady state auditory
evoked responses to pulsed frequency modulations in children.
Electronecephalopgr Clin Neurophysiol 104:31-42, 1997.
Volpe JJ: Neurology of the Newborn, 2nd ed. Philadelphia, WB
Saunders, 1987.
Weiner H, Levitt L, Urion DK: Pediatric Neurology for the House
Officer, 4th ed. Baltimore, Williams & Wilkins, 2003.
85
COMPREHENSIVE
FORMULATION
OF ASSESSMENT
William B. Carey
ELEMENTS OF A COMPREHENSIVE
FORMULATION OF THE ASSESSMENT
Having strongly urged a comprehensive formulation, one
must acknowledge that it is difficult, and perhaps impossible, to offer a single method on which all potential users can agree. One such diagnostic profile, favored by
the author, is presented here (Table 85-1). Some might
say that there is too much emphasis on temperament or
not enough on various aspects of cognition. In any case,
Table 85-1 shows that all the significant elements can be
assembled on one page in a form that is comprehensive,
dimensional, and interactional.
841
842
Part IX ASSESSMENT
Significant Areas
Strengths, Assets
Satisfactory
ProblemsDeficiencies, Deviations
Average
Average
Average or
mixture
Average
Effective coping
Average
Comfortable function
Normal
concerns
Moderate-severe symptomseating,
sleep, elimination, gender, sex, pain,
tics
Excellent health
Average
Average
Average
Normal
Average
Deficit, disability
Deficit, disability
Flexible, pleasant
High performance style; task
oriented
Appropriate level of reactions
Average range
Average range
Average range
Predictable, organized
Average range
Irregular, disorganized
Not present
Not present
Hyperkinetic
Good support
Adequate
Mixed
Good; healthy
Tolerable
Excellent; good
Adequate
Troublesome or poor
Adequate
Adequate
Adequate
Attentive guidance
Acceptable
Socializationteaching
social relations
Effects of child on caregiver
Average
Overstimulation or understimulation,
neglect
Overaffection or underaffection,
hostile, abuse
Overguidance, underguidance, or
inappropriate guidance
Aberrant socialization
Average, mixed
AdjustmentBehavior, Emotional,
Functional
Behavioral competence in relationships
parents, sibs, peers, other adults
Achievementstask performance in
school, home, community
Self-relationsesteem, care, control
offeelings and actions
Internal statusfeelings, thinking
Copingidentification and solution
ofproblems
Symptoms of body functioneating,
sleeping, elimination, gender, sex,
pain, tics
Child Factors
Physicalnutrition, growth, maturity,
illness
Neurologicsensory, motor, reflex,
coordination
Developmentmotor, language,
personal-social
General cognitive skills (e.g., memory)
Specific cognitive skillsreading,
spelling, writing, math
Temperament
Social styleapproach, adaptability, mood
Work stylepersistence, distractibility,
activity
Situational reaction styleintensity,
threshold
Organizational styleregular,
predictable, organized
Pervasive, extreme inattention or activity
Environmental Factors
Caregivers contributionsstructuregeneral capacity, commitment,
availability, involvement
Sociocultural influencesrelatives, neighbors, school, media, affluence/poverty
Physicalneighborhood, hazards, toxins
Interactions
Comments:
Summary and Diagnosis:
Plans
service needs:
AdjustmentBehavioral, Emotional,
and Functional
The assessment of behavioral performance or adjustment, as described in several chapters (see especially
Chapter 7), deals with the following BASICS elements:
1. Behavioral competence: the childs relations with
othersthe degree of social competence or under
socialization.
2. Achievements: performance of tasks, especially
schoolwork, and playthe extent of task mastery or underachievement. Actual performance of
tasks should be rated here and differentiated from
the capacity to perform them, which is an aspect of
development.
3. Self-relations: whether self-assured or troubled
with problems in self-relations, such as self-neglect,
poor self-esteem, and inadequate or excessive selfregulation.
4. Internal status: thoughts, feelingsa sense of wellbeing versus disturbed feelings (anxiety, depression)
or disturbed thinking (phobias, obsessions).
5. Coping: an appraisal of the childs adaptive or coping style and abilitieseffective or ineffective.
6. Symptoms of physiologic function or dysfunctions
insleep, elimination, eating, gender and sex, pains,
and tics.
Motivation is an important dimension of personality, but because it is estimated only with great difficulty
by the primary care clinician, it is not included as an
element of this comprehensive profile. It may be possible to estimate it from other components of behavioral
adjustment.
Child Factors
Physical Health
An appraisal of physical health describes the childs
organic and functional condition and includes organic
illness and malfunction or handicaps of various organ
systems (e.g., the skin, respiratory system, and cardiovascular system), and nutritional status; growth and physical maturation; and problems such as malnourishment,
obesity, disturbances of growth or bodily development,
and evidence of substance abuse. Many of these conditions and their impacts are discussed in earlier chapters.
The neurologic status subsumes sensory and motor
function, reflexes, and coordination. Problems in this
area include sensory loss, including vision and hearing,
843
cerebral palsy, convulsive disorders, soft signs (minor neurologic indicators), or motor incoordination.
These findings and the biologic influences affecting them
are considered extensively in Part III of this book.
Developmental Function
The section of the diagnostic formulation on capacities includes the various elements of development and
their current level and degree of appropriateness for
age and the state of cognitive functions. Included are
a childs gross motor function, fine motor skills, language proficiency, memory, spatial orientation, temporal-sequential organization, higher order conceptual
abilities, and various aspects of social perception and
skills. The childs level of academic performance skills
and age-appropriate task performance capacities also
are documented. The current status of the childs attention and organizational ability should be taken into account. These latter characteristics are hard to classify;
they also are found in this comprehensive formulation
under temperament. This section of the formulation is
where one includes neurodevelopmental variations and
specific skills and problems in learning, such as reading,
spelling, writing, and math.
The diagnostician should undertake a careful search
for developmental strengths, special talents, and content
affinities. These highly individualized abilities that can
serve as a crucial support system for self-esteem and
motivation. In particular, the clinician needs to uncover
strengths that are not being encouraged, a childs assets
that are being neglected by parents and the school. Such
abilities need ongoing nurturance. Assessment of these
various capacities is discussed elsewhere, particularly in
the other chapters of this section.
Instead of seeking to characterize a childs overall
cognitive ability with a numeral (such as an intelligence
quotient [IQ] score), it is far more beneficial to focus on
a childs individual profile of strengths and weaknesses.
There is growing recognition that many forms of intelligence exist (Gardner, 1983). An astute clinician should
uncover and describe a childs unique areas of intellectual competence.
Temperament
The childs temperament or behavioral style should be
considered and evaluated independently of his or her
behavioral performance or adjustment. The various dimensions of temperament and the clinical clusters derived from them have been described fully in Chapter 7,
and indications and techniques for their assessment are
discussed in Chapter 78.
The previous discussion of temperament urges the
avoidance of the use of the cluster labels of difficult,
easy, and slow-to-warm up because they may encourage
stereotypic thinking in the clinician and may be derogatory. Some other groups of traits may prove to be useful,
however, if thought of as risk or protective factors,
rather than categorical problems. The childs social style
may consist of approach, adaptability, and mood. The
work style would be affected by persistence/attention
span, distractibility, and activity. Two others are situational reaction style with intensity and threshold, and
844
Part IX ASSESSMENT
Environmental Factors
Nonhuman Environment
Parents
Parental (or caregiver) care consists of parental attitudes,
including expectations (how realistic and how supportive they are), parental feelings (the amount of attachment
or detachment and of affection or anger and rejection),
and the actual management of the child (the amount and
quality of physical care, stimulation, affection, guidance,
and socialization given to the child). Mrazek and colleagues (1995) suggested a parenting risk scale, which is
an overall judgment of parenting divided into three levels
of function: (1)adequate parenting, by which is meant
either average or exceptional parenting; (2)concerns
about parenting, which describes the situation with
some degree of problems, such as intense marital conflict
or parental emotional problems, but not serious enough
for immediate intervention beyond close follow-up; and
(3)parenting difficulties, which includes serious problems, such as punitive parenting and neglect.
The key dimensions of parenting used by Mrazek and
colleagues (1995) in arriving at the general judgment of
its adequacy are (1) emotional availability, or degree of
warmth; (2) control, or degree of flexibility and permission; (3) parental psychosocial status, or the freedom
from (or presence of) overt disorder in the parents;
(4) knowledge base, or the parents understanding of
emotional and physical development and basic childcare
principles; and (5) commitment, or an adequate prioritization of childcare responsibilities. These dimensions
can be thought of in regard to their structure or presentation or their content or quality.
Sociocultural Milieu
The sociocultural situation describes the impact of brothers
and sisters, other family members, peer group, neighborhood influences, television, school, and health care practices: Which are helpful and which are not? It is important
to take into consideration the cultural background of a
child and his or her family. A clinician should describe and
respect behaviors, values, and attitudes that are a product
of an individuals national or ethnic background. Bilingual children, including children born in other countries,
should be thought about in terms of their adjustment to
any divergent cultural demands and their success in forging an identity that bridges the two cultures.
Interactions
We should estimate the goodness or poorness of the fit
between the child with his or her temperament and other
characteristics and the values and preferences of the caregivers. How well do the parents or teachers understand
the child, tolerate what is not changeable such as temperament, and manage in ways that minimize the stressful interaction between them and promote harmony?
The essential components of parental contributions
to the child are described in Chapter 10 and include
physical care, stimulation, affection, guidance, and socialization. The impact of the child on his or her surroundings is a highly important part of the interaction
that is frequently either ignored or not explicitly included in diagnostic formulations. One rates here the
degree of pleasure or displeasure and satisfaction or dissatisfaction experienced by parents, teachers, and others
who regularly encounter the child. A statement should
be included about the aspects of the child that are most
bothersome and that have led to clinical attention.
SUMMARY OF FINDINGS
At the end of the comprehensive diagnostic formulation,
it is appropriate to summarize the various details in a
single statement or two. An example follows:
This 8-month-old male infant is physically, neurologically, and developmentally normal and has a relatively
easy temperament, but he has become very demanding of his mothers attention. He cries repeatedly and
for prolonged periods, and his mother feels obliged to
pick him up and comfort him whenever he cries. The
mother has become angry about the infants demands
and thinks that there is something wrong with him. The
reason seems to be that the authoritarian grandmother
persuaded the mother that the infant should not be allowed to cry because of his umbilical hernia. The result
was more crying and greater maternal distress.
Sometimes clinical syndromes emerge from certain
combinations of findings. The so-called vulnerable child
syndrome (see Chapter 34) characterizes the child who
is physically and developmentally normal, but has a particular pattern of behavioral maladjustment related to
the continuation of inappropriate parental concern and
handling following full recovery from a worrisome early
illness. The summary is the section in which such syndromes could be mentioned.
ADVANTAGES OF A COMPREHENSIVE
FORMULATION
The advantages in the use of the comprehensive diagnostic formulation can be found in practice, research,
and education. In practice one gains the assurance in
making a complex diagnosis that a broad range of pertinent factors is considered so that relevant issues are
unlikely to be omitted. This inclusive view of the child
enhances the clinicians diagnostic reasoning, his or her
discussions with the patient and family members, and
his or her communications with other professionals.
One can reasonably argue that such a comprehensive
evaluation is unnecessary in the immediate management
of acute minor illnesses, such as otitis media or gastroenteritis. If professional contacts extend into well-child
care or involvement with chronic physical problems, a
broader evaluation becomes very helpful. With concerns
in the area of development and behavior, this is a necessity, not a luxury. Plans for management of problems
in the latter areas stand a far better chance of meeting
the childs needs if they are based on a truly complete
empiric assessment, rather than on incomplete data or
stereotypic diagnostic labels.
In carrying out research, the use of this model of
formulation encourages more precise definition of subjects, allowing studies to become more interpretable and
845
PROBLEMS IN FORMULATION
Although primary care clinicians need to reason comprehensively, this admirable goal is not easily achieved. The
various professional individuals dealing with the childs
development and behavior may not agree that any one
particular profile of the childs status is an acceptable
one. Various settings and points of view may argue for
modifications of contents and subdivisions. Advocates of
neurology and psychiatry may plead for an expansion of
their spheres of interest. One should not object to this as
long as the other elements of the formulation are retained
and considered in the final diagnosis and service plan.
Another problem is the lack of standardized criteria
for diagnostic ratings in some areas, particularly behavioral adjustment. One can agree that this topic deals primarily with the childs relationship to others, to tasks,
and to himself or herself, but the dividing line between
normal and abnormal is broad and variable.
How is the clinician to arrive at a comprehensive
diagnostic formulation if there is a major area of missing data, as with a pediatrician evaluating a problem
of school adjustment without specific data about information processing skills? The pediatrician must refrain
from proposing a final diagnosis until such assessments
are available. The same information may be largely
superfluous in other situations, as in the case of helping
the child and surviving parent deal with the death of the
other parent. All the areas of the formulation should be
borne in mind, but clinical data in each are sought only
to the extent appropriate for competent management of
the child. Finally, a major problem in the use of this
sort of diagnostic profile is its implementationthat is,
in persuading oneself and others to give up old habits
of abbreviated and distorted conceptualizations and to
think comprehensively.
SUMMARY
Before proceeding from the diagnostic phase to management of problems or issues, the clinician has to
bring together a wide range of information besides
the overall adjustment status: environmental and
846
Part IX ASSESSMENT
ACKNOWLEDGMENTS
The author acknowledges the contributions of Melvin
D. Levine, M.D., to the version of this chapter in the
third edition of Developmental-Behavioral Pediatrics.
REFERENCES
American Academy of Pediatrics: The classification of child and adolescent mental diagnoses in primary care. In: Diagnostic and Statistical
Manual for Primary Care (DSM-PC): Child and Adolescent Version.
Elk Grove Village, IL, American Academy of Pediatrics, 1996.
Carey WB, McDevitt SC: Coping with Childrens Temperament:
A Guide for Professionals. New York, Basic Books, 1995.
Gardner G: Frames of Mind. New York, Basic Books, 1983.
Jellinek MS, McDermott JF: Formulation: Putting the diagnosis into a
therapeutic context and treatment plan. J Am Acad Child Adolesc
Psychiatry 43:7, 2004.
Mrazek DA, Mrazek F, Klinnert M: Clinical assessment of parenting.
J Am Acad Child Adolesc Psychiatry 34:272, 1995.
Part X
86
MANAGEMENT
AND TREATMENT
PEDIATRIC COUNSELING
Barton D. Schmitt
Vignette
Samantha was born at 36 weeks gestation, weighing 4 pounds 4 ounces. The obstetrician attributed
her small size to pregnancy-associated hypertension. After birth, Samantha took readily to breastfeeding. At her 4-month-old well-child visit, she was at the 25th percentile for weight and 50th
percentile for length and head circumference. But her parents did not rejoice at this news. On
probing, the pediatrician discovered that the parents had strong disagreements about whether
Samantha should continue sleeping in their bedroom. There were other conflicts about child rearing
as well. When the pediatrician seemed truly interested, the parents agreed they needed help with
these issues.
848
Part X
PROVIDING EDUCATION
Education involves the presentation of facts or medical
opinions to a parent or child. Education is undertaken
mainly to impart information, but it also plays a critical
role in reducing anxiety, dispelling misconception, and
fostering feelings of effectiveness on the part of a parent
or child.
Requested Education
Education may be particularly effective when it has been
asked for. In these instances, the timing of the education
is optimal. Adolescents commonly have questions about
acne, sexually transmitted diseases, the prevention of
pregnancy, tattoos, and smoking. These topics deserve
thoughtful answers. A family may ask a physician about
the pros and cons of getting a dog. The physician can remind the parents that most children younger than 3 years
of age cannot be taught to treat a dog appropriately and
risk being bitten. If parents wish to have a dog during
this developmental period, they can be advised not to
leave their child alone with the dog at any time. The
difficult situation of having to give parents bad news
about the health of their child is discussed in various
chapters about specific situations, such as the birth of a
child with Down syndrome (see Chapter 25).
Anticipatory Guidance
Anticipatory guidance (or preventive counseling) is the
advice pediatricians provide to avoid problems that
could occur in the future. Topics such as nutrition,
injury prevention, behavior management, developmental
stimulation, sex education, and general health education all may be covered during every visit. Most expectant parents have many questions that can be discussed
with their pediatrician several weeks before delivery.
The most frequent concerns include arguments for and
against breastfeeding and circumcision, hospital policies about rooming-in and the fathers presence in the
delivery room, ways of decreasing sibling rivalry, and
essential infant equipment.
849
Be Brief
Reassurance should be offered in as few words as possible. When reassurance is tenuous, the physician may
be tempted to prolong the discussion of the aspects of
the case that are reassuring. Most parents sense that the
physician is hiding his or her real feelings and worries
behind a long speech.
PROVIDING REASSURANCE
Examples of Reassurance
Be Specific
The most effective reassurance is specific and focused.
The targeted concern or worry is identified by listening
carefully. A parent may be afraid primarily of a brain tumor in a child with recurrent headaches, appendicitis in
a child with recurrent abdominal pains, or a heart attack
in a child with chest pains. When the precise overriding
fear is identified, the physician can carefully investigate
that specific concern and offer reassurance when the fear
is unfounded. Blanket reassurance (e.g., Theres nothing to worry about, Everything will be just fine, or
other extravagant promises) leads the parent to suspect
the physician of being insensitive or even dishonest, and
dilutes the value of any specific advice.
Be Honest
What the physician tells the parents must be honest. If
the physician is caught in one lie, the balance of his or
her reassurance is thrown into question. The physician
850
Part X
Clarification of Problems
Clarification involves identification of the problem and
an explanation of its possible causes and effects. The
objective of clarification is to help parents understand
their childs behavior. The physician must review carefully with the parents the behavior patterns they want
changed. The parents have the final word about the
selection of target behaviors. The physician can state,
If I understand you correctly, you are most concerned
about . Pediatricians may not have enough time,
however, to allow parents to work out their own understanding of the cause of their childs problems. When
the physician understands the situation, he or she may
explain it in general terms. In some cases, the parents
are either too strict or too lenient Sometimes the central
issue is a vicious cycle or power struggle (e.g., pressure
brings resistance; constant criticism leads to giving up
and depression). The parents should be given credit if
their analysis of the problem seems correct. When the
physician has presented an interpretation to the parents,
he or she can ask whether it makes sense to them.
Approval of Parenting
Parents can be complimented regarding their parenting skills during every visit. Mentioning that a child is
courteous, patient, brave, verbally interactive, or cooperative or shows other desirable personality traits in the
office setting helps the parents believe they are doing a
good job. Parents of children with emotional problems
are usually on the defensive and need to hear that the
physician knows they love their child.
Avoid Criticism
Criticism of parents has several adverse side effects. First,
it engenders guilt. Many parents normally blame themselves for causing their childs symptoms (e.g., by losing
their temper and yelling), and the physician should alleviate rather than accentuate such self-accusation. Second, parents who are criticized may become angry at
the physician, and his or her medical advice then may
be followed poorly. Even harmful approaches usually
can be changed without confrontation by stating diplomatically, Recently we have found that a different
approach works better.
851
Follow-up Visits
If advice is given, the results of the advice should be
learned. Advice should be followed by at least one visit
or phone call. This approach is in contrast to prior approaches of reassurance and education in which follow-up
visits are optional. If more than two follow-up visits are
needed, probably the physician needs to acquire a more
complete psychosocial database and a more precise concept of the etiology. The physician can ask the parent to
keep a written record (diary or calendar) between visits;
this provides material for discussion. The second visit
should be scheduled approximately 1 week after the
first. The problem identified should remain the focus of
follow-up visits. One can assess progress on the basis of
symptom elimination, symptom improvement, a lack of
change, worsening of symptoms, or the occurrence of a
new symptom. The physician can refine and recalibrate
the treatment plan with the parents contribution. The
parents should be congratulated about any success they
852
Part X
Pitfalls
A common pitfall in giving advice is rigidity on the part
of the physician. The gap between the physicians request
of the parents and the behavior that the parents are willing or able to provide should be kept to a minimum, If
the physicians expectations are too high, he or she will
lose the family to follow-up. Advice always should be
presented as a consideration rather than a requirement
or order.
An example of a situation in which physicians
commonly give advice that is in conflict with parents
inclinations are the childs sleeping in the parents room.
Some mothers (especially those who are breastfeeding)
prefer to have their infants sleep in a cradle in the parents bedroom until they reach an age at which nighttime
feedings are unnecessary (i.e., 3 or 4 months of age). No
proven harm comes from this approach.
PROVIDING ENVIRONMENTAL
INTERVENTION
Environmental intervention consists of recommendations for specific changes in the patients physical or
extrafamilial environments. These recommendations
attempt to reduce factors that are contributing to the
patients problems or to mobilize individuals outside the
family unit who can help. Environmental intervention is
a part of many treatment plans. The physician becomes
effective in this sphere after he or she acquires a thorough knowledge of the communitys resources. Often
a social worker can provide advice when the physician
is uncertain about available help for a specific problem.
Usually the school system and other agencies respond
positively to the physicians suggestions.
In simple problems, environmental manipulation
may be curative (e.g., a nightlight for a child who fears
the dark). In children with multifactorial problems, it
may offer temporary improvement while counseling
paves the way to more permanent solutions (e.g., school
attendance for school phobia). Environmental interventions on behalf of the patient at home, in the school, and
in the community are best illustrated by the following
specific examples.
Home Recommendations
Home recommendations can be used to change the
home environment. For discipline problems, a time-out
room can be designated and prepared. A quiet place can
be provided for study. To prevent sleep deprivation, the
television should be kept out of the bedroom, including
teens rooms. Chores or allowances can be increased or
reduced, depending on circumstances. The television set
might be disconnected temporarily to encourage studying or conversation.
School Recommendations
The following recommendations can be implemented to
improve the childs school environment. Nursery school
or Head Start may be indicated for a child who is overprotected or understimulated. Children with a learning
disability may require remedial classes or tutoring after
school (see Chapter 93). High school students may be
enlisted as tutors for younger children. For the student
who develops physical symptoms of anxiety while at
school (e.g., abdominal pain), the physician may request
that the school nurse permit the child to rest periodically
in the nurses office for 15 minutes, rather than sending
the child home. For some anxious children, the physician may need to request a temporary shower excuse or
gym excuse. Most children with problems can receive
considerable support from their teachers if the pediatrician keeps them informed of the childs special needs
(e.g., extra bathroom privileges).
Community Recommendations
The general advice for full activity on doctors orders
is especially beneficial for a depressed or overprotected
child. Children with socialization or peer avoidance
problems need more peer contact time. The possibility of
joining clubs, teams, or other recreational outlets should
be explored. A summer camp program serves a similar
purpose, but the camp counselors must be prepared to
deal with homesickness. Special camps exist for many
children with chronic diseases or disabilities. Infants
with developmental delays owing to environmental deprivation might be enrolled in stimulation programs.
853
especially mothers who have successfully managed a similar problem in their own child (e.g., colic, breastfeeding,
breath-holding, or attention deficits). A physician may
decide to keep a card file of the names and the phone
numbers of successful mothers who are willing to provide
such support and teaching. For the family in a serious crisis, temporary placement of the children with a relative,
friend, or even foster home may need to be considered.
EXTENDED COUNSELING
In brief counseling, specific advice or options are offered
for one or two behavioral symptoms. Good results are
expected with one or two follow-up visits. Direct advice
can be given after a minimal psychosocial database has
been obtained. Every pediatrician should provide brief
counseling and advice.
By contrast, extended counseling requires longer
visits and more extensive contacts. Extended counseling is needed for children with multiple or complicated
symptoms and should be preceded by the obtaining of a
more complete psychosocial database. Extended pediatric counseling may require three to six visits (or more).
Two examples of extended counseling that are common
in the practice of pediatrics are psychosomatic counseling and discipline counseling.
Psychosomatic Counseling
Pediatricians must be fully trained to evaluate and
treat children who have any symptom that might stem
from psychological causes as well as organic ones (e.g.,
recurrent headaches, abdominal pains, and syncope).
Discipline Counseling
854
Part X
One error in extended counseling is taking on a patient who needs long-term psychotherapy. A variation
on this error is to remain involved with a case despite a
lack of progress. Children with serious emotional problems should be referred to a mental health setting. Major
education problems require educational specialists.
Families with multiple problems should be referred to a
social worker. If progress has not been accomplished by
the fifth or sixth session of extended counseling, referral
usually is indicated.
Scheduling Appointments
Although some individuals may believe that it is unrealistic for a pediatrician to become involved with timeconsuming behavioral problems, he or she is well suited
for this role. Most primary physicians are efficient. If
the physician is the childs regular physician, he or she
has two advantages: he or she knows the family well,
and the evaluation can be done in much less time. In addition, the parents already trust the physicians advice.
The physician can attain the same results that it would
take an unknown counselor much longer to achieve. This
section reviews some aspects of office organization that
may improve the physicians efficiency in counseling.
Data in Advance
The initial evaluation visit proceeds much more efficiently
if the family or adolescent has completed a behavioral
screening or descriptive questionnaire in advance (see
Chapter 78). After scanning the results, the physician can
focus the discussion on the main problem areas. More
specific information also is helpful. Parents of a child with
SUMMARY
Counseling is an intrinsic part of pediatric care. Parents
often seek out physicians who feel comfortable dealing
with physical and emotional issues. Optimal pediatric
SUGGESTED READINGS
American Academy of Pediatrics: Diagnostic and Statistical Manual
for Primary Care (DSM-PC): Child and Adolescent Version. Elk
Grove Village, IL, American Academy of Pediatrics, 1996.
Bergman AS: Pediatricians as counselors: The relationship as treatment. Pediatrics 73:730, 1984.
Coleman WL: Family-Focused Behavioral Pediatrics. Philadelphia,
Lippincott Williams & Wilkins, 2001.
Coleman WL, Howard BJ: Family-focused behavioral pediatrics: Clinical techniques for primary care. Pediatr Rev 16:448, 1995.
Dworkin PH: Detection of behavioral, developmental, and psychosocial problems in primary care practice. Curr Opin Pediatr 5:531,
1993.
Green M: No child is an island: Contextual pediatrics and the new
health supervision. Pediatr Clin North Am 42:79, 1995.
Green M, Sullivan PD, Eichberg CG: What to do with the angry toddler. Contemp Pediatr 19:65, 2001.
855
87
BEHAVIOR MANAGEMENT
Jack H. Nassau, Gray M. Buchanan,
and Pamela C. High
outlines important components of developing any effective behavioral program. These include, but are not
limited to, developing and maintaining positive parentchild interactions, defining the behavior to be changed,
measuring and monitoring the target behavior, setting
a behavior change goal, developing specific strategies to
change the behavior, implementing and evaluating the
behavior program, and maintaining behavior change
(Table 87-4).
857
Examples
Application
issues of concern. Success with changing the initial behavior empowers parents to have more confidence and
become more invested in addressing additional, more
difficult, behaviors.
In addition to collaborating with parents, coordination with teachers and other school personnel is often
necessary. In such cases, it is important for the clinician
to determine what problematic behaviors occur in the
classroom and to identify goals for target behaviors that
complement goals established with the family. This is a
complex process. Teachers often have many children in
their classroom and can attend to the behaviors of an
individual child only in a circumscribed manner; defining discrete, small behaviors that the teacher can attend
to is necessary.
858
Table 87-2. Behavior Management Techniques (or Principles of Operant Conditioning) and Applications
Principles of Operant Conditioning
Examples
Application
change it because any objective change would be impossible to discern. Measuring and monitoring involves
being able to count the frequency (and possibly the intensity and duration) of a behavior and the antecedents
and consequences of the behavior. This process provides
information regarding how often the behavior occurs, in
what situation or context it occurs, and what learning
and reinforcement mechanisms may be operating. When
a family brings up a behavioral concern, such as sleep,
as part of a busy health maintenance visit, the clinician
can ask parents to monitor that behavior, preferably on
a monitoring form. In this way, the clinician has efficiently and effectively recognized the parents concern
and started the process of behavioral intervention. At
a follow-up visit, the monitoring can be reviewed, and
abehavioral management plan can be developed.
Measuring and monitoring behavior is an ongoing
process throughout a behavioral intervention. It is recommended that before initiating any other intervention,
parents should measure and monitor the behavior for
a few days to a week to learn about the baseline fre-
859
Examples
Application
Systematic desensitizationgradually
increasing a childs exposure to an
anxiety-producing stimulus to enable the
child to overcome the anxiety gradually.
Also known as graduated exposure.
Fadinggradually decreasing a reinforcer as
a desired behavior becomes integrated into
routine. This is the natural response after
a new behavior is learned. Fading also
refers to changing something gradually.
(Continued)
860
Examples
Application
861
During each 15 minute period of the day you are to indicate the main activity of your baby.
The baby behaviors you will record are:
F = Fussing
Month
C = Crying
Day
S = Sleeping
E = Eating
A = Awake
Year
12MN
1AM
2AM
3AM
4AM
5AM
6AM
7AM
8AM
9AM
10AM
11AM
12noon
1PM
2PM
3PM
4PM
5PM
6PM
7PM
8PM
9PM
10PM
11PM
Where baby falls asleep (S = swing, A = arms, B = parents bed, Ba = bassinette, C = crib, CS = car seat)
Place above the block designating onset of a sleep episode. If baby is bottle feeding, put volume that is taken above times he/she is eating.
Best 5 minutes of the day
For Office Use Only:
Total Hours
Fussing
Crying
Sleeping
Awake
Eating
Figure 87-1. Behavior diary.(Courtesy of Brown Center for the Study of Children at Risk, Providence, RI.)
862
Vignette
Daniel is a healthy 5-month-old infant who, by his
mother Lynettes report, has a history of persistent
fussing and crying for at least 6 hours a day. Daniels
father is fulfilling a month-long military reserve duty
commitment in another state, from which he cannot
be excused. Lynette is exclusively breastfeeding.
Daniel has good weight gain and a normal physical
examination. He is bright and alert and focused on
his mothers face and voice. He is beginning to babble
reciprocally and to reach for his toys. Daniel cries
especially hard in the evenings and does not have a
consistent bedtime. He has a hard time falling asleep
at night and only catnaps in his mothers arms during
the day. His mother sometimes resorts to running the
vacuum close to him or taking him on a late-night
car ride to get him to fall asleep. By his mothers
description, Daniel is sleeping only 6 to 8 hours a day.
Lynette reports that she is exhausted and near the end
of her rope. She questions her adequacy as a mother.
863
Behavioral principles can be used to encourage the implementation of developmentally appropriate positive
parenting strategies. Parents of infants and toddlers can
be advised to begin developing dependable routines,
such as regular bedtimes and soothing bedtime rituals. Family routines can be conceptualized as learning
through classic conditioning, such as the child associating reading a book or two with the parent while being
rocked in a rocking chair in his or her room at bedtime
with falling asleep in his or her crib for the night. The
pleasant interactions that occur during such routines or
rituals also positively reinforce parents to maintain the
routine. Routines provide consistency; set predictable
limits; and, although they will change and will be challenged as the child grows, have the potential to become
a time in the day that everyone in the family anticipates
with great pleasure.
864
Vignette Summary
Daniels bedtime routine and his mothers plan to encourage him to learn to fall asleep on his own in his
crib uses classic and operant conditioning learning
techniques as described in Table 87-1 and many of the
common behavior management techniques described in
Table 87-3. Daniel began to associate his sleepiness, his
bath, his full tummy, the low lights, the music, the room,
and his crib with sleep onset. When he wakes after any
amount of sleeping and clearly signals, he is rewarded
with nursing at night and playing in the day, and so
this, as well as not being tired anymore, becomes positive reinforcement for sleeping in his crib. Lynette does
not interpret putting Daniel down drowsy but awake
and letting him settle and possibly fuss as a time-out
or punishment, which would have been unacceptable to
her. Instead she sees this strategy as teaching him an
important skillthat he can put himself to sleep with
supports and no longer need to be rocked for 30 to 60
minutes or listen to the vacuum to fall asleep. She may
need to modify her responses in the night if Daniel gets
a cold or if the family travels. Nonetheless, having successfully modified sleep behavior once, his parents have
a good chance of revising their strategies to help their
son get his sleep back on track when this kind of perturbation has resolved.
Vignette
Jeff is a single parent who is raising his 9-year-old son,
Zachary. He complains that he cannot get Zachary to
do anything, and that Zachary does not listen well. Jeff
has to tell him over and over to do chores such as make
his bed and do his homework, things that kids his
age should be able to do. Jeff constantly finds himself
nagging Zachary, which results in Zachary frequently
whining, arguing, and talking back. These behaviors
also occur at Zacharys school according to reports
from his teacher. In particular, Jeff often complains of
Zachary fighting with him over bedtime and explains
that most nights Zachary refuses to go to bed until 10
or 11 at night. Jeff describes similar difficulties with
Zachary not wanting to get up in the morning and not
completing his homework.
The practicing clinician is asked to help treat numerous behavioral problems such as those described by
Zacharys father. Positive reinforcement strategies, such
as social and material rewards, may be employed to increase or strengthen desired behaviors such as cleaning
up and doing homework. Punishment strategies, such
as systematic ignoring and time-out, may be used to decrease or weaken undesired behaviors such as whining
and talking back. Many behavior management programs
involve a combination of techniques. In this case, several of the commonly used strategies described in Table
87-3 can be used to improve behavioral compliance and
enhance interactions between Zachary and his father.
865
866
Antecedent
Behavior
Consequence
3/1, 7:00 am
Asked Zachary to
get up from bed
Yelled at Zachary
to make his bed
3/2, 6:45 am
Woke Zachary up
and told him to get
ready for school
Yelled at me and
continued to sleep
for another 40 min.
and didnt make
bed
Yelled and
reminded him to
get up and make
his bed for 45
minutes
Vignette
Angela is a 16-year-old girl with insulin-dependent
diabetes. Although as a younger child she had
periods of not wanting to test her blood glucose, by
maintaining close supervision and structure, her family
was able to manage her diabetes well. Similar to most
teenagers, Angela now spends more and more time
with her friends, and her parents no longer provide
the supervision that they once did. Her parents also
think they should not have to supervise Angela as
they did when she was younger, that Angela should
understand that its her responsibility to take care of
her diabetes. Angela has not been testing her blood
glucose or giving insulin as scheduled, and she has not
been keeping to her diet, particularly when she is out
with friends. As her diabetic control has deteriorated,
arguments in the home have increased.
867
868
or becoming more independent in other adherence behaviors (e.g., accurate carbohydrate counting), can be
introduced.
WHEN TO REFER
Given the constraints of the primary care clinician and
the complexity of some cases, there are times when it is
advisable to refer the family to a behavioral specialist.
In particular, this course of action is recommended in
cases where the behavioral concerns are complicated by
significant family dysfunction or child psychopathology,
or when the practitioner either is uncomfortable working within this framework or does not have adequate
time to provide such treatment.
SUMMARY
The goals of this chapter were to highlight behavioral
principles, provide an orientation to the steps involved
in using behavioral strategies, and show how behavioral
strategies can be implemented to address issues across
the developmental spectrum. Using these principles, an
effective and systematic approach to behavior management can be implemented in either primary care or subspecialty offices.
REFERENCES
Bearman KJ, La Greca AM: Assessing friend support for adolescents
diabetes care: The Diabetes Social Support QuestionnaireFriends
Version. J Pediatr Psychol 27:417-428, 2002.
Blanchard LT, Gurka MJ, Blackman JA: Emotional, developmental,
and behavioral health of American children and their families:
Areport from the 2003 National Survey of Childrens Health.
Pediatrics 117:e1202-e1212, 2006.
Kelleher KJ, McInerny TK, Gardner WP, et al: Increasing identification of psychosocial problems: 1979-1996. Pediatrics 105:13131321, 2000.
Shonkoff JP, Phillips DA (eds): From Neurons to Neighborhoods: The
Science of Early Child Development. Washington, DC, National
Academy Press, 2000.
Young KT, Davis K, Schoen C, Parker S: Listening to parents. Arch
Pediatr Adolesc Med 152:255-262, 1998.
869
88
CRISIS MANAGEMENT
Mirna Farah and Thomas Chun
Differential Diagnosis
Agitated or violent behavior is not a diagnosis unto
itself but rather the final common pathway for any
number of medical, psychological, social, and environmental causes. In many cases, the cause of the behavior may be multifactorial. Medical causes of agitated or
violent behavior include any condition that can alter a
patients cognitive or behavioral functioning. By far the
most commonly encountered causes are intoxication
and traumatic injuries, especially head injuries. Other
possible causes include brain tumors, seizures, and any
infections or medical condition causing delirium (toxic
encephalopathy). The fact that the number of potential
medical causes is so large underscores the importance of
a careful and thorough history and physical examination.
Violence is an uncommon symptom of psychiatric
illness, although agitation is frequently seen. Violence
or agitation may be part of the underlying psychiatric
condition or may be a manifestation of poor frustration
tolerance. Psychiatric conditions that can present with
violence or agitation include anxiety disorders, such as
post-traumatic stress disorder; mood disorders, such as
major depression and bipolar illness; psychotic disorders, such as schizophrenia; and disruptive disorders,
such as attention-deficit/hyperactivity disorder, conduct
disorder, and oppositional defiant disorder. Learning
disorders and pervasive developmental disorders such
as autism, Asperger syndrome, and Rett syndrome may
also present in this manner.
Agitated or violent behavior may also be the result
of social or environmental stressors. Children or adolescents who experience violence in their home setting (i.e.,
abuse inflicted on them or their family members) may
respond with violence or agitation. Patients who feel
unsafe in their home environments (e.g., fear of physical
assault, drug- or gang-related behaviors) may also pre
sent with agitation or violence.
A patient must have his or her behavior under control before a medical and psychiatric examination can be
performed. A calm, polite, respectful environment can be
helpful in promoting safe behavior. The patient should
be placed in a quiet, low-stimulus room, one that is free
of any hazardous objects and in which the patient can be
observed.
871
History taking should focus on risk factors for immediate and future violence. Past and recent histories
of violent ideation and behaviors as well as access to
weapons should be elicited. Current stressors and social
situation, any history of impulsive or bizarre behavior,
and impaired thought processes or judgment are all important for treatment planning.
A careful physical examination should be performed
on all patients. Patients may have already injured themselves, which can be missed if they are not completely
examined. In addition, they and their belongings should
be searched for any weapons or objects that could be
used as weapons. There is no standard laboratory evaluation of these patients. Laboratory evaluations should
be obtained on the basis of clinical suspicion of possible
underlying medical conditions.
Studies of adverse outcomes due to the use of physical restraint have shown that these outcomes occur at
greater rates in children than in adults. As a result, the
Health Care Financing Administration and the Joint
Commission on Accreditation of Healthcare Organizations now mandate that all hospital-based physical restraint adhere to strict standards and guidelines for the
application and monitoring of such restraint.
A patients ultimate disposition is contingent on
whether the patient can be safely managed on an outpatient basis. If there is any question as to whether patients
can be safe with themselves and in their home environment, mental health or social services consultation
should be obtained. Chapter 40 offers further discussion
on the subject of the agitated or violent child.
Initial Management
Identification
The point prevalence of depression is approximately 2%
of school-age children and 4% to 6% of adolescents.
The lifetime prevalence of depression in adolescents is
20% to 25%. Suicide, unfortunately, is the third leading
cause of death among children and adolescents.
The pathways to depression are complex and variable.
Adoption, twin, and family studies all clearly demonstrate
the significance of biologic factors. However, stressful environmental factors (e.g., parental divorce, school problems, relationship breakups, or maltreatment) often play
critical roles in the onset of depressive episodes.
Depressive symptoms vary by age. Some, like hopelessness, hallucinations, and delusions, can be difficult
to assess or absent in younger children. The younger
the child, the more likely the child is to have somatic
complaints. In older children, symptoms such as anhedonia, hopelessness, hypersomnia, weight gain, and social withdrawal may be more common. In adolescents,
irritable mood may be as common as or more common
than depressed mood.
Dose
Route of Administration*
Diphenhydramine
PO, IM, IV
Hydroxyzine
Lorazepam
Midazolam
Haloperidol
Risperidone
Olanzapine
Quetiapine
Ziprasidone
*The
PO, IM, IV
PO, IM, IV
PO, IM, IV
PO, IM, IV
PO, IM, IV
PO, IM, IV
PO
PO, IM, IV
preferred route of administration of the medications listed for an agitated patient is either oral (PO) or intramuscular (IM). Although it is probably safe to give
them intravenously (IV), they are not approved by the Food and Drug Administration to be given by this route.
872
Differential Diagnosis
Comorbid psychiatric conditions are the rule rather than
the exception. Substance abuse, anxiety, developmental,
and post-traumatic stress disorders are also frequently
present. The multitude of medical conditions that can
present with depression merits a comprehensive and
thorough history and physical examination.
Those who complete (as opposed to those who attempt but do not complete) suicide tend to be male
and to have histories of persistent psychiatric problems (especially depression or bipolar disorder), substance abuse, antisocial behavior, use of more lethal
methods to attempt suicide, and impulsive or obsessive
traits. Lack of these risk factors does not automatically
mean that a patient is low risk for suicide completion. All suicide attempts should be taken seriously
and thoroughly evaluated. The large majority of these
patients warrant an evaluation by a mentalhealth
professional.
Initial Management
Differential Diagnosis
Comorbid psychiatric conditions, especially mood, anxiety, and impulse control disorders, are common. Psychotic disorders, borderline personality disorder, and
dissociative disorders may also be comorbid although
difficult to differentiate.
Initial Management
Identification
Identification
Psychological trauma can take many forms in childhood. Traumatic experiences can be a one-time event
(e.g., a dog bite) or chronic and long-lasting (e.g., being
raised by an abusive parent). The two most common
types of trauma are being witnesses to violence (e.g.,
domestic or community violence) and being the victim
of assault (e.g., physical or sexual abuse) or neglect.
The cardinal features of post-traumatic stress disorder
are exposure to an extreme traumatic stressor, intrusive re-experience of the trauma, persistent avoidance
of stimuli associated with the trauma, and recurrent
symptoms of physiologic arousal. Symptoms tend to
vary by age. Avoidant symptoms may be absent or
children may not report them. Physiologic symptoms
may be headaches or stomachaches and not the classic symptoms of autonomic arousal. Fears and anxieties unrelated to the trauma may occur in younger
children.
s ymptoms despite supposedly adequate therapy, a discrepancy between the history and clinical picture.
Initial Management
Management of treatment nonadherence begins with
an exploration of the reasons for noncompliance in the
particular patient. Keeping in mind the prevalence of
nonadherence, a nonjudgmental discussion should be
held with the patient, identified issues addressed, and a
tailored treatment plan created for each individual patient. It is imperative to avoid blame. Active participation and collaboration must be encouraged.
Adolescent patients are at especially high risk of nonadherence for a multitude of reasons, including peer
pressure and the struggle for autonomy. It is therefore
important to increase the teenage patients involvement
in his or her care. The teen should be evaluated alone at
some point during the visit. Education should be provided at his or her level of understanding and concrete
short-term goals agreed on. It is also useful to delineate
a daily routine that involves the medication regimen and
provides cues to remind the patient to take the medication. For example, a morning dose could be placed near
the toothbrush as a cue. Pill boxes may also be useful
as cues. As much as possible, the medication regimen
should be simplified with the use of forgiving drugs,
that is, those drugs with long half-lives that therefore
allow less frequent dosing, whenever feasible (Nevins,
2005; Yeo and Sawyer, 2005). Above all, an effective
patient-provider relationship that lends itself to clear
lines of communication and improved patient education
and participation should be established. Chapter 39 offers further discussion on the subject of medical noncompliance.
873
Initial Management
Immediate stabilization of the patient is the highest priority. The airway is assessed for patency, breath sounds
are auscultated, and the circulatory status of the patient
is appraised through palpation of central pulses and
evaluation of heart rate and blood pressure. Other vital
signs should be assessed. Any disorder noted in this initial assessment is potentially life-threatening and must
be addressed without delay. A thorough physical examination should follow. Mental status should be assessed,
and the patient is evaluated for the presence of specific
patterns of vital sign and examination findings characteristic of toxidromes.
Early consultation with the toxicology team or the
local poison control center is warranted. If recent ingestion is obvious from the history and the patient is alert
and cooperative, activated charcoal could be given after
consultation with the toxicology team. If the patient is
obtunded or poorly responsive, a dose of naloxone may
be given to reverse a possible opioid overdose. Glucose
and thiamine are administered to the adolescent or adult
patient with suspected chronic alcohol abuse. In all patients with altered mental status, intravenous access
should be obtained and oxygen administered. Initial
laboratory investigation and testing include bedside serum glucose evaluation, electrocardiography, serum and
urine toxicology, and serum electrolyte determinations.
Once the patient is stabilized, a more thorough search
for the etiologic agent is embarked on.
Differential Diagnosis
Identification
Acute mental status changes in a previously healthy patient, especially after a social event, should prompt the
clinician to evaluate for possible ingestions. In many
cases, polydrug use occurs, and patients may not be able
Anxious children may present to the emergency department for an unrelated medical condition or during an
anxiety or panic attack. A variety of symptoms can be
manifested, including dyspnea, tachypnea, breathlessness,
874
Differential Diagnosis
A major goal is to avoid or to reduce the use of pharmacotherapy, limiting it to patients who fail to respond
to education and counseling. Propranolol and anxiolytics have been used successfully in children to interrupt
these spells. Chapter 47 offers further discussion on the
subject of the anxious child.
Initial Management
The therapeutic approach to an anxiety attack has several stages or degrees of intervention: psychological
counseling, physiotherapy, and pharmacotherapy.
Psychological Counseling
Reassurance by physicians, family, and professionals is
the most prominent instrument to reduce or to diminish observed respiratory symptoms in the absence of significant organic abnormality. Children and adolescents
need to be reassured in specific terms relevant to their
fears. Counseling and psychiatric referral are necessary
to discover the sources of the psychological disturbance
experienced by the child.
Physiotherapy
The classic remedy for hyperventilation is relaxation
and breathing into a paper bag. For adolescents in particular, emphasizing that the patient has control over the
Pharmacotherapy
f requent apneic spells during sleep, hypoxia, hypercapnia, frequent arousals, and sleep fragmentation. Children may present with loud snoring, excess daytime
somnolence, morning headaches, hypertension, cardiac
arrhythmias, cor pulmonale, failure-to-thrive, enuresis,
anoxic seizures, aggressiveness, decreased attention
span, and poor school performance. Predisposing risk
factors to obstructive sleep apnea include craniofacial
abnormalities, hypotonia, and morbid obesity. Overnight polysomnography is the gold standard to confirm
the presence and severity of obstructive sleep apnea.
Management involves otolaryngologic consultation for
thorough airway evaluation and appropriate measures
to relieve obstruction, maintenance of continuous
positive airway pressure, and initiation of weight loss
in obese children. However, the most common treatment of obstructive sleep apnea is tonsillectomy and
adenoidectomy, after which symptoms resolve in 70%
of cases (Loughlin, 1992). Chapter 64 offers further
discussion on the subject of sleep problems.
SUMMARY
We have discussed a wide selection of common behavioral emergencies that may be encountered in the emergency department or primary care setting. The general
principles of evaluation and initial management of all
such presentations are similar. In all cases, it is imperative to obtain a thorough history and to perform a
physical examination to narrow the differential, which
quite often involves myriad possible causes. Life- and
limb-threatening problems should be identified and
dealt with immediately. A thorough search should also
be made for underlying organic causes of the behavioral
abnormality. Finally, effective ongoing care beyond the
acute setting is predicated on clear communication with
the primary care physician and subspecialist team (if
required) in addition to encouraging a strong patientprovider relationship between these providers and the
patient.
875
REFERENCES
DeBellis MD, Van Dillen T: Childhood post-traumatic stress disorder: An
overview. Child Adolesc Psychiatr Clin North Am 14:745-772, 2005.
DeFruyt J, Demyttenaere K: Rapid tranquilization: New approaches
in the emergency treatment of behavioral disturbances. Eur Psychiatry 19:243-249, 2004.
DiMatteo MR, Lepper HS, Croghan TW: Depression is a risk factor
for noncompliance with medical treatment: Meta-analysis of the
effects of anxiety and depression on patient adherence. Arch Intern
Med 160:2101-2107, 2000.
Folgering H: The pathophysiology of hyperventilation syndrome.
Monaldi Arch Chest Dis 54:365-372, 1999.
Harrington R: Depression, suicide and deliberate self-harm in adolescence. Br Med Bull 57:47-60, 2001.
Herman SP, Stickler GB, Lucas AR: Hyperventilation syndrome in
children and adolescents: Long-term follow-up. Pediatrics 67:183187, 1981.
Heyneman EK: The aggressive child. Child Adolesc Psychiatr Clinics
North Am 12:667-677, 2003.
Howard BJ, Wong J: Sleep disorders. Pediatr Rev 22:327-342, 2001.
Johnston LD, OMalley PM, Bachman JG, Schulenberg JE: Teen drug
use continues down in 2006, particularly among older teens; but
use of prescription-type drugs remains high. University of Michigan
News and Information Services, Ann Arbor, MI. Available at:
www.monitoringthefuture.org. Accessed January 18, 2006.
Loughlin GM: Obstructive sleep apnea in children. Adv Pediatr
39:307-336, 1992.
Nevins TE: Why do they do that? The compliance conundrum.
Pediatr Nephrol 20:845-848, 2005.
Osterberg L, Blaschke T: Adherence to medication. N Engl J Med
353:487-497, 2005.
Ricaurte GA, McCann UD: Recognition and management of complications of new recreational drug use. Lancet 365:2137-2145, 2005.
Rimsza ME, Moses KS: Substance abuse on the college campus.
Pediatr Clin North Am 52:307-319, xii, 2005.
Ward T, Mason TB: Sleep disorders in children. Nurs Clin North Am
37:693-706, 2002.
Wise MS: Parasomnias in children. Pediatr Ann 26:427-433, 1997.
Yeo M, Sawyer S: Chronic illness and disability. BMJ 330:721-723,
2005.
Yildiz A, Sachs GS, Turgay A: Pharmacological management of agitation in emergency settings. Emerg Med J 20:339-346, 2003.
89
PSYCHOTHERAPY WITH
CHILDREN AND ADOLESCENTS
Jane E. Caplan, Craigan T. Usher,
and Michael S. Jellinek
A sign of health in the mind is the ability of one individual to enter imaginatively and accurately
into the thoughts and feelings and hopes and fears of another person; to allow the other person to
do the same to us . When we are face to face with a man, woman or child in our specialty, we
are reduced to two human beings of equal status.
D. W. Winnicott
Pediatricians are often asked to assess and to intervene in behavioral and emotional issues. Interventions
include monitoring children, providing suggestions on
negotiation of difficult transitions, prescribing psychotropic medication, and giving advice to parents and
children on how to use real-life phenomena to bring
about positive change. Advice about modifying rules or
reframing a tension in the family is often therapeutic.
Pediatricians often refer children and their families for
formal therapy when the problems are severe, intractable, or dangerous. What constitutes therapy is often
quite mysterious. It is this, the mystery of therapy, including the types, goals, and role of the pediatrician,
that we hope to address in this chapter.
D. W. Winnicott, a British pediatrician and child
psychotherapist who closely examined the inner lives of
children, noted that the ability of a child or, for that
matter, an adult to conceptualize the thoughts and feelings and hopes and fears of another person constitutes
health in the mind. The essence of what makes an
intervention psychotherapeutic is that it repairs the
ability to enter imaginatively and accurately into the
thoughts and feelings and hopes and fears of another
person. Consider the teenager with an eating disorder
who becomes so preoccupied with being thin, often to
the point of starvation, that she is severely limited in seeing her own and others needs. Similarly, parents who
are in the process of divorce can sometimes become so
focused on their own anger and sadness that they cannot feel empathy for their child. The childs fear and
loneliness then overwhelm any ability to cope and are
manifested in symptoms (Winnicott, 1965).
In this chapter, we define mental health; provide
examples of when childrens and teenagers abilities
to imaginatively and accurately perceive the thoughts
and feelings of others go awry and demonstrate the
876
MENTAL HEALTH
Winnicott offers that a sign of health in the mind is
the ability of one individual to enter imaginatively and
accurately into the thoughts and feelings and hopes and
fears of another person. By defining mental health in
this way, neither Winnicott nor we are claiming that one
need be 100% correct about what is on another persons
mind, only accurate enough.
With or without conscious awareness, pediatricians
are Winnicottian. They develop a complex, psychologically rich view of children and parents. While taking histories and through observation, pediatricians
often address whether the parent or child sees himself or herself in a reasonable manner, if there exist
consistent unshakable distortions, and if the parent
and child present a coherent narrative of the problem.
Intuitively, pediatricians are mindful of red flag
answers to these questions, acknowledging that sometimes there is more than meets the eye, inquire further,
and intervene.
Vignette
877
Vignette
Jennifer is a 14-year-old girl whose parents are in the
middle of a divorce. During her annual check-up,
the pediatrician was surprised to discover Jennifer
dressed seductively, a major change from her previous
appearance. During her visit, Jennifer revealed that she
had engaged in oral sex with a boy at school but had
kept this a secret from her parents.
The pediatricians first intervention was to provide
sex education to Jennifer. He then attempted to
understand the change in Jennifers dress and behavior.
When he asked Jennifer about the custody arrangement,
Jennifer revealed how much she missed her father.
Jennifer also shared that she had been afraid to tell
her parents about her feelings for fear of hurting her
mother. Understanding that part of Jennifers dress and
premature sexual activity was a reaction to the sporadic
visitation with her father, Jennifers pediatrician was
able to work with her parents to find additional ways
she could visit him. However, after a subsequent
parental fight, Jennifers mother refused to let her visit
her father more often. In response, Jennifer escalated her
behavior, and 2 weeks later, Jennifers mother brought
her back to the pediatricians office because she was, in
her mothers words, demanding birth control pills!
The pediatrician speculated that Tina was defending against some hurt or loss by experiencing it as body
pain. Tinas mother was similarly defending against
something unspeakable, by talking extensively about
Tinas problems. The pediatrician completed a few noninvasive tests. When no cause stood out, she referred
Tina and her mother for family therapy.
Vignette
Tina is a 16-year-old young woman with a 4-year
history of chronic abdominal pain of unknown etiology
as well as generalized anxiety. Her symptoms had
been managed through the use of a serotonin reuptake
inhibitor and relaxation techniques. However, after
2years of stability, Tinas abdominal pain worsened and
she began missing school. In the office, the pediatrician
noticed that Tinas mother frequently spoke for her,
including offering detailed reports on the degree of
Tinas pain and also vehemently requesting additional
workups and interventions. The pediatrician sensed that
Tina and her mother were indirectly communicating a
deeper truth that they couldnt stomach.
878
REFERRAL
Pediatricians frequently make referrals for children,
parents, and families to see mental health practitioners.
Several factors compose a successful referral, including
an alliance with the family and establishment of a relationship with the colleague to whom one is referring a
family or child (Table 89-1).
It is helpful for the pediatrician to be clear about the
goals of the referral and to communicate those reasons
to the parents. In practical terms, this means outlining the developmental goals the child is having trouble
achieving. When families have an understanding of the
goals of the referral and how the referral could result
in better functioning for their child, seeing a therapist
is less daunting. It might be helpful for the pediatrician
to speak with the consultant first to discuss the case and
to obtain suggestions on how to broach the subject with
the family. For example, the pediatrician might say to
Jennifers family, Jennifers precocious sexual behavior
might be related to the loss she feels from the divorce
and may be an attempt to gain companionship or an
identity away from all the tension. Talking it through
may decrease or stop her potentially dangerous behavior. Sometimes the parents most serious worry serves
as the best therapeutic goal. Talking about psychotherapeutic treatment with a goal in mind offers parents a
sense of hope about the referral.
Pediatricians are also successful in making psychotherapy referrals when they offer names and numbers of one or two mental health colleagues whom
they can recommend with confidence. A pediatrician may provide a child or teenager instructions to
stick with the person they find easiest to talk with.
The referral process does not end with handing over
names and numbers. A follow-up plan, in the form of
a scheduled appointment or planned telephone call,
should be established on the same day the referral is
made. This helps prevent the family from feeling abandoned and increases adherence to the plan of seeking
psychotherapeutic help.
Finally, psychotherapy referrals are successful when
pediatricians provide mental health colleagues with
879
880
Cognitive-Behavioral Therapy
Cognitive-behavioral therapy (CBT) attempts to take
into account a childs internal emotional and intellectual experience, examining how children perceive their
external environment and alter distortions, which lead
to anxiety, depression, or other symptoms. The role of
the CBT psychotherapist is to address how children interpret the world around them and to help the child to
think and then subsequently to feel and to act in ways
that are less troubling.
Cognitive therapy is rooted in the theories of Aaron
Beck, who postulated that anxiety and depression are
the result of distorted thinking (see Chapters 47 and 48).
Cognitive therapy takes a very direct approach toward
understanding the thoughts and feelings, hopes and fears
of the patient in the present. This direct approach involves
the use of standardized, validated, manual directed treatments, providing children and adolescents with in-office
and homework exercises that alter their understanding of the world. Meanwhile, the underlying principle
of behavioral therapy is that if one responds to certain
behaviors with rewards or punishments, the frequency
and intensity of a childs behavior can be increased or
reduced to desired effect. For example, in dealing with
a boy who fervently believed that he would never get a
cavity even if he did not brush his teeth, a pure behavioral therapist would not directly confront his cognitive
distortions. The therapist would, instead, help the family create a reward system meant to inspire the child to
brush his teeth, regardless of his thoughts on the matter.
In the case of Aidan, his symptoms were initially addressed by his pediatrician and parents by use of behavioral treatment. They began ignoring his troubling
behaviors and rewarding his completion of tasks. Later,
were he to have worked with a cognitive therapist on his
poor self-image, the formulation and focus would have
involved identifying and then challenging Aidans negative cognitive distortions about himself in the present.
Specifically, Aidan would be asked to accumulate evidence for and evidence against his badness. With the
help of the therapist, Aidan would start to self-correct
his thoughts, realizing they were distortions of the truth.
He would grow to believe that although sometimes
Ido things that frustrate other people, in fact, there are
a lot of things about me that my parents, teachers, kids
in my class, and I really like.
Again, because CBT so directly confronts the thoughts,
feelings, and behavior of patients, this type of psychotherapy can be completed quickly and is ideal for research studies. Whereas the goal-oriented approach of
CBT appeals to many patients, others resent its approach
as too eager to bring about change quickly, inadequately
nuanced, and overly structured.
881
882
Family Therapy
In family therapy, an individuals symptoms are viewed
as occurring within the system of the family. The family
exerts a powerful influence over the individual, and it
is theorized that some people cannot get better unless
the family system also shifts toward health. An individuals symptoms may serve some larger purpose within
the family structure. Despite the fact that the symptoms
may be harmful to the individual, the family system
(either knowingly or unknowingly) supports either the
emergence or continuance of these symptoms. Common
reasons for the development of symptoms in an individual are to divert marital conflict, to draw attention
to another person in the family who needs help, to seek
attention, and to avoid other conflicts or affects in the
family that are too painful to address.
Family therapy attempts to change the pattern of relating and interacting within the family. The family therapist must attend to interpersonal dynamics between
family members as well as the intrapsychic factors of
each individual.
The family from the vignette presented for family
therapy after the daughters pain had worsened and no
cause of the pain had been found. They were initially
reluctant to go to family therapy, as they perceived her
pain to be real. The therapist did not challenge this
notion because the pain was very real even if it was being generated or exacerbated by family-centered psychological factors. Tinas symptoms had been a way of
avoiding talking about painful issues pertinent to her
family life.
Eventually, Tina revealed that a friend was raped by
a boy at their school. This had reminded Tina of her
own trauma at age 11, when a neighbor touched her
inappropriately. She had been holding onto this secret
for years, burning with rage that her mother and father
could not protect her. In therapy, Tinas mother admitted that she suspected this but had not been able to acknowledge the mere possibility of abuse. The therapist
then pointed out that unknowingly, Tinas mother had
overinvolved herself in Tinas medical care in an attempt
to resolve her feelings of guilta process that Tina reinforced by having further abdominal pain. By the end of
the treatment, Tina and her parents were better able to
balance the intense feelings of love, rage, and hurt that
had brought Tina to the physicians office for stomachaches many times.
Parent Guidance
Therapeutic work with parents is often helpful to the
child who is also in his or her own treatment. The
rationale of parent guidance is that parents can inadvertently re-enforce problems in their child. In turn,
problematic children can make parenting quite difficult. In either case, the opportunity to talk over difficult parenting situations with a professional can be
very helpful.
Once the parents come to a greater understanding of
their childhood issues and conflicts, their own children
will be free from the burden of helping the parent rework those issues by proxy (Armbruster et al, 2002).
Children with mental illnesses, especially those diagnosed at a young age, present many parenting challenges,
even for the healthiest and most devoted of parents. The
help of a therapist who is familiar with the childs diagnosis can provide psychoeducation and information
on developmental norms. Although the parents might
not know other children struggling with issues similar
to those of their own child, a therapist will have seen
multiple children with the similar diagnoses and can use
those experiences in providing reference points for the
parents.
Jennifers divorced parents from the
vignette
were
referred for parent guidance when the personal disputes
between them interfered with their role as parents. With
the help of parent guidance, Jennifers parents were able
to refocus on her need for them to continue to act in
a parenting role, including keeping her needs primary.
Jennifers mother was able to see Jennifers need to
see her father as developmentally normal and agreed
to regular visits When Jennifers father discussed his
own parents divorce and his subsequent estrangement
from his father, he discovered that he was in danger of
unconsciously re-enacting the same situation with his
daughter.
PSYCHOPHARMACOLOGIC INTERVENTIONS
Although psychopharmacologic interventions are beyond the scope of this chapter (see Chapter 90), it is important to acknowledge that medication can positively
affect a childs ability to accurately and imaginatively
enter into the minds of others and in this way are psychotherapeutic. This is readily evidenced by the child,
suffering an illness such as major depressive disorder or
generalized anxiety, who after a trial with an antidepressant or anxiolytic no longer sees the world and others as menacing and can accurately assess what others
are thinking and hence make new friends. Both the identification of mental illness in children and the prescription of symptom-relieving medications often fall on the
shoulders of pediatricians. This has created a need for
psychopharmacology training for pediatricians as well
as the need for more accessible collaborative care between child psychiatrists and pediatricians.
PSYCHOTHERAPIST-PEDIATRICIAN
COMMUNICATION
Greater communication of pediatricians with specialists often results in higher rates of referral completion
(Rushton et al, 2002). The goal of the referral may not
be complete for 1 or 2 years after the patient has been in
treatment. Ongoing communication between a pediatrician and psychiatrist may be necessary to ensure that
the family remains committed to treatment and that the
goals of the treatment are completed.
Good communication between psychiatrist and pediatrician begins even before the time of the actual initial referral. Frequent points of communication include
questions about how concerning the childs behavior
appears, whether it would be an appropriate referral
to that particular provider, how best to approach the
family about the referral, and what the providers availability is during the next few weeks. When contacted
in person, many busy psychiatrists will find the time
to meet with a patient about whom the pediatrician is
concerned.
The psychiatrist can be helpful to the pediatrician in
determining what type of treatment referral is needed.
Psychiatrists can provide informal consultation without
seeing the patient, one-time formal consultation by a
meeting with the parents or child about a specific issue, psychopharmacologic management, or ongoing
care of the child with both psychotropic medication and
therapy. After the pediatrician and psychiatrist decide
what role the psychiatrist should play, the pediatrician
can relay this information to the parents, along with the
message that communication has already occurred and
the pediatrician has a sense of confidence that the psychiatrist will be helpful.
If the psychiatrist is going to observe the patient in an
ongoing way, the pediatrician should be given a sense
of how much of the therapeutic process is going to be
shared. Psychiatrists have varying degrees of comfort
with the disclosure of information learned during therapy
sessions. Such information is an almost sacred aspect of
the therapy that promotes the development of trust with
and disclosure from the patient. Frequently, the psychiatrist will speak with the patient or family to discuss what
information is to be shared with the pediatrician, thus
preserving the sense of trust and alliance with the patient.
Signed consent forms are an ingredient of good communication between therapist and pediatrician.
Communication between the pediatrician and psychiatrist can serve an important function for the psychiatrist as well. The pediatrician will be seeing the parents,
child, and siblings in an ongoing way and may have developing information about family dynamics relevant to
the care of the patient. The pediatrician can also support
the work of the psychiatrist when the parents become
frustrated by an overt lack of progress.
Unfortunately, communication between pediatricians
and psychiatrists tends to be poor. In 2004, 100 pediatricians responded to a survey about their experiences in
collaborating with psychiatrists. Only 14% of pediatricians reported receiving any type of information from
the psychiatrist after the referral. More than 90% of pediatricians reported that they were more likely to receive
communication from other medical subspecialists than
from psychiatrists. Eighty-eight percent of pediatricians
reported that the family is the primary source of information about the content of the psychiatric referral, but
only 14% thought the family was a reliable source of
information. Only 25% of pediatricians reported speaking with the psychiatrist before referral, although 66%
thought that doing so might result in communication
after the visit. Those who did report speaking with the
psychiatrist before consultation were more likely to receive communication from psychiatrists after consultation (28%) than were those who did not communicate
(9%) (Ross et al, 2004).
Factors that may hinder communication between
pediatricians and psychiatrists include lack of time,
concerns about confidentiality, limited access to the
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884
SUMMARY
Pediatricians prescribe psychotherapeutic interventions
to improve their patients ability to accurately and imaginatively experience themselves and others. Pediatricians
can help parents and children to understand therapy
when they are referred. The central focus of all psychotherapies is to reconstitute a childs or adolescents ability to examine the thoughts and feelings of others and
to be free to let others do the same to them. Sometimes
this must take place in psychodynamic psychotherapy;
others benefit from cognitive-behavioral treatments.
Troubles involving an entire family system may be best
treated in family therapy or with individual therapy in
conjunction with parent guidance. It is powerful when
pediatricians and therapists practice the type of communication that they would like to foster in patients and
families. Few large-scale studies validating the various
forms of psychotherapy for most treatments have been
undertaken. Some of those performed have shown only
modest effect, whereas others demonstrate more promising results. Given our experience, a keenly interested
therapist examining the thoughts, feelings, hopes, and
fears can help guide children back onto a better developmental track. Pediatricians understanding of mental health disorders and the role of therapies will help
them deal with one of the most common concerns of
primary care, psychosocial functioning, and will enrich
the meaning of their daily practice.
REFERENCES
Armbruster M, Chock U, Tanner E, Holmes S: Parent work. In
Lewis M, (ed): Child and Adolescent Psychiatry, 3rd ed.
Philadelphia, Lippincott Williams & Wilkins, 2002, pp 1055-1068.
Casey RJ, Berman JS: The outcome of psychotherapy with children.
Psychol Bull 98:388-400, 1985.
Jellinek M, Ablon S: Character disorders. In Friedman S (ed): Compre
hensive Adolescent Health Care. St. Louis, Mosby, 1998, pp911-920.
Kazdin AE, Bass D, Ayers WA, Rodgers A: Empirical and clinical focus of child and adolescent psychotherapy research. J Consult Clin
Psychol 58:729-740, 1990.
Leichsenring F, Rabung S: Effectiveness of long-term paychodynamic.
JAMA 300:151-1565, 2008.
Linehan M: Cognitive-Behavioral Treatment of Borderline Personality
Disorder. New York, Guilford, 1993.
Massachusetts General Hospital: Pediatric Symptom Checklist (PSC).
Available at: http://psc.partners.org. Accessed January 15, 2007.
McCarty C, Weisz J: Effects of psychotherapy for depression in
children and adolescents: What we can (and cant) learn from
meta-analysis and component profiling. J Am Acad Child Adolesc
Psychiatry 46:879-886, 2007.
Ross W, Chan E, Harris S, Rappaport L: Pediatric experience with
psychiatric collaboration. Dev Behav Pediatr 25:377-378, 2004.
Rushton J, Bruckman D, Kelleher K: Primary care referral of children
with psychosocial problems. Arch Pediatr Adolesc Med 156:592598, 2002.
Vitiello B, Rohde P, Silva S, et al: Functioning and quality of life in the
Treatment for Adolescents with Depression Study (TADS). J Am
Acad Child Adolesc Psychiatry 45:1419-1426, 2006.
Weisz JR, Doss AJ, Hawley KM: Youth psychotherapy outcome research: A review and critique of the evidence base. Annu Rev Psychol 56:337-363, 2005.
Weisz JR, McCarty CA, Valeri SM: Effects of psychotherapy for depression in children and adolescents: A meta-analysis. Psychol Bull
132:132-149, 2006.
Weisz JR, Weiss B, Alicke MD, Klotz ML: Effectiveness of psychotherapy with children and adolescents: A meta-analysis for clinicians. J Consult Clin Psychol 55:542-549, 1987.
Weisz JR, Weiss B, Han SS, et al: Effects of psychotherapy with children and adolescents revisited: A meta-analysis of treatment outcome studies. Psychol Bull 117:450-468, 1995.
Winnicott DW: The price of disregarding psychoanalytic research. In
Winnicott DW: Home Is Where We Start From: Essay by a Psychoanalyst. New York, Norton, 1965, pp 172-182.
Winnicott DW: Cure; as quoted in Phillips A: Winnicott. Cambridge,
Harvard University Press, 1970, pp 13-14.
90
Act of 1997 guaranteed a limited extension of patent life, also known as exclusivity, to any proprietary
drug whose innovator voluntarily funded its study in
youth; the Best Pharmaceuticals for Children Act of
2002 reauthorized the 1997 act and allocated new
money for the FDA to contract for drug trials in youth
that industry would not voluntarily conduct; and the
Pediatric Research Equity Act of 2003 made FDA approval of a new drug contingent on completion of pediatric trials if the agent is likely to be used in children.
The legislation had the intended effect of pumping
private resources into scores of randomized, placebocontrolled trials of selected agents to treat child and
adolescent depression, anxiety, and ADHD (Benjamin
et al, 2006), but the payoff was not entirely satisfying.
For example, industry-funded studies were designed to
show statistical superiority of drug over placebo but
not a meaningful measure of the magnitude of drug
effect. Some industry-sponsored studies were never
published, particularly negative trials, because the raw
data were proprietary. The NIMH focused instead on
funding multisite, multimodal, and occasionally novel
intervention trials, hoping to capitalize on the power
of these designs to quantify the relative effectiveness of
various treatments (Table 90-1).
Taking a lesson from history, a collaborative academic, public, and private, if not integrated, action
plan may be the most effective means going forward
toward a robust national program of child and adolescent psychopharmacologic research (DeVeaugh-Geiss
et al, 2006), the fruits of which could be more effective
and better tolerated medicines to treat pediatric mental illnesses. On the other hand, accelerating the introduction of novel psychotropic technologies for youth
is likely to strain the current FDA approval process to
its limit.
BEFORE PRESCRIBING
Because sensitive and reliable blood, imaging, and genetic markers for psychiatric disorders are simply not
yet available, a thorough and detailed patient history is
the sine qua non of a thoughtful differential diagnosis.
A child or adolescent psychiatric history demands collateral information from many sources, including parents,
older siblings, extended relatives, other caregivers, baby
sitters, teachers, coaches, prior health care providers, or
anyone else responsible for a young patients nurturing,
885
886
Ages
579
7-9
72
5-14
108
5-12
149
5-17
439
12-17
334
12-18
128
6-17
80
16-45
20
5-17
Design
14-month randomized, parallel groups comparing efficacy of
intensive medication management vs. intensive behavioral
therapy vs. their combination vs. community practice
5-week randomized, placebo-controlled within subjects, plus
open label maintenance, to test efficacy and tolerability of
methylphenidate to treat comorbid ADHD in pervasive
developmental disorder
1-week run-in, followed by 6-week, placebo-controlled,
parallel groups testing efficacy and tolerability of risperidone in conduct disordered,
intellectually disabled
children
12-week randomized, double-blind, placebo-controlled,
parallel group to test efficacy of citalopram in reducing
repetitive behaviors and improving functioning
12-week placebo-controlled, parallel groups, plus 24-week
continuation comparing efficacy and safety of fluoxetine
vs. cognitive-behavioral therapy vs. their combination vs.
placebo in moderate to severe depression
12-week randomized, factorial design comparing efficacy of
alternative antidepressants alone and in combination with
cognitive-behavioral therapy
8-week randomized, placebo-controlled, parallel group
to test efficacy and tolerability of fluvoxamine in social
phobia, generalized or separation anxiety
12-month randomized, double-blind, placebo-controlled,
parallel group after discharge from inpatient program at
target weight to test efficacy of fluoxetine to reduce relapse
rate
12-week randomized, double-blind, placebo-controlled,
single group test of efficacy and safety of galantamine
*MTA
that everyone can recognize. The more difficult discussion of risk may begin by considering the harm that doing nothing might cause but in short order must turn to
the relative risk of harm posed by treatment itself. Open
and honest medication education during a patients visit
and its documentation not only help ensure the patients
safety but also serve to remind the physician of that oldest of dictums, primum non nocere.
PHARMACOTHERAPY OF ATTENTION-DEFICIT/
HYPERACTIVITY DISORDER
In a series of lectures delivered to the Royal College of
Physicians of London more than a century ago, George
F. Still argued urgently for scientific investigation of
a pediatric condition he called a defect of moral control (Still, 1902). The children he described without
impairment of intellect or obvious physical disease
would today meet criteria of the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR), for attention deficit and disruptive
behavior disorders. ADHD, discussed in Chapter 54,
has long been recognized as a neurodevelopmental syndrome of inattention, impulsiveness, and hyperactivity.
Complicating the diagnosis are other child and adolescent psychiatric disorders commonly comorbid with
ADHD, especially disruptive and defiant behavior, anxiety, depression, learning disorders, and tic disorders.
Psychostimulants
No pharmacotherapeutic agent or behavioral intervention has been shown to outperform the psychostimulants in treating the core symptoms of ADHD. Only
two psychostimulant compounds are available today
with FDA approval for the treatment of ADHD: methylphenidate and amphetamine, both of which have active levo- and dextro-isomers marketed in immediate
release (IR) and long-acting formulations in a variety of
delivery vehicles. A third psychostimulant, magnesium
pemoline, was withdrawn from the market in 2005 after
the FDA announced that its overall risk of liver toxicity outweighed any potential clinical benefit. A fourth
psychostimulant, modafinil, although promising in pediatric clinical trials (Biederman et al, 2006), is stalled
in the FDA approval process as of this writing because
of associated serious skin reactions, including urticaria,
erythema multiforme, and Stevens-Johnson syndrome.
Psychostimulants are generally believed to block the
presynaptic dopamine and norepinephrine reuptake
transporters and to stimulate the release of dopamine
from presynaptic storage vesicles. They may also weakly
stimulate the release of stored norepinephrine. There is
a subtle difference between the dopamine storage sites
at which methylphenidate and amphetamine act, but
no difference in clinical effectiveness as a result has
ever been appreciated. Amphetamine is approximately
twice as potent as methylphenidate but has no advantage in either symptom selectivity or duration of action.
Methylphenidate is metabolized by de-esterification to
inactive ritalinic acid, which is almost entirely excreted
in the urine; amphetamine is in large measure excreted
unchanged in the urine with some deamination and hydroxylation into benzoic acid and hydroxyamphetamine.
Psychostimulants have little plasma protein binding, are
rapidly absorbed, exert their effect in the IR form within
30 minutes of ingestion, reach peak plasma concentrations in the 1- to 3-hour range, and have elimination
half-lives in the 2- to 4-hour range.
The challenge to improve the clinical usefulness of
these compounds has been twofold: parsing out the
relative efficacy of their isomers and engineering delivery systems to sustain dosing automatically. Delivery
vehicles currently used to extend the absorption time
887
888
Active Isomers
Delivery System
Adderall
Adderall XR
Concerta
Daytrana
Dexedrine
Dexedrine
spansule
DextroStat
Focalin
Focalin XR
d-, l-Methylphenidate
d-, l-Methylphenidate
d-Amphetamine
d-Amphetamine
Metadate ER
Metadate CD
d-, l-Methylphenidate
d-, l-Methylphenidate
Methylin
Methylin
Methylin ER
Ritalin
Ritalin LA
d-, l-Methylphenidate
d-, l-Methylphenidate
d-, l-Methylphenidate
d-, l-Methylphenidate
d-, l-Methylphenidate
Ritalin SR
Vyvanse
d-, l-Methylphenidate
l-Lysinebound d-amphetamine
IR tablet
Double-pulse beaded capsule,
sprinkles
Osmotic pump
Transdermal patch
IR tablet
Double-pulse beaded capsule,
sprinkles
IR tablet
IR tablet
Double-pulse beaded capsule,
sprinkles
Wax matrix tablet
Double-pulse beaded capsule,
sprinkles
IR tablet
Liquid
Wax matrix tablet
IR tablet
Double-pulse beaded capsule,
sprinkles
Wax matrix tablet
Microcrystalline soluble
powder
d-Amphetamine
d-Methylphenidate
d-Methylphenidate
Maximum Daily
Dose: FDA
Available
Strengths (mg)
40 mg
30 mg
72 mg
30 mg
40 mg
40 mg
40 mg
20 mg
30 mg
5, 10
2.5, 5, 10
5, 10, 15, 20
60 mg
60 mg
10, 20
10, 20, 30, 40, 50, 60
60 mg
60 mg
60 mg
60 mg
60 mg
5, 10, 20
5 mg/5 mL, 10 mg/5 mL
10, 20
5, 10, 20
10, 20, 30, 40
60 mg
70 mg
20
20, 30, 40, 50, 60, 70
Table 90-3. Suggested Dosing of Agents Used in ADHD for Ages 6 and Above
Agent
Initial Dosing
Titration Steps
Psychostimulants
5 mg weekly
2.5 mg weekly
2.5 mg weekly
2.5 mg weekly
10 mg weekly
5 mg weekly
5 mg weekly
18 mg weekly
Next larger dose weekly
Next larger dose weekly
Consolidate 1.0 mg/kg/d q d 4 d; then
1.2 mg/kg/d q d
Consolidate 1.2-1.8 mg/kg/d;
maximum = 100 mg/d
25 mg weekly divided bid;
maximum = 4 mg/kg/d (200 mg/d)
10 mg weekly divided bid;
maximum = 2 mg/kg/d (100 mg/d)
50 mg weekly; maximum = 300 mg/d
0.05 mg weekly; maximum = 0.4 mg/d
0.5 mg weekly; maximum = 4 mg/d
Atomoxetine
Tricyclic
antidepressants*
Imipramine: 25 mg q d
Bupropion*
2-Adrenergic agonists*
50 mg q d
Clonidine: 0.05 mg qhs 3 d, then 0.05 mg tid
Guanfacine: 0.5 mg qhs 3 d, then 0.5 mg q 12 hr
Nortriptyline: 10 mg q d
*Not
Adverse Effects
Psychostimulants
Atomoxetine
Tricyclic
antidepressants*
Bupropion*
2-Adrenergic
agonists*
*Not
889
addressed by either dose reduction or switching of preparations. On March 3, 2006, the FDA issued a memorandum
summarizing its Adverse Events Reporting System data,
which documented the emergence of manic and psychotic
symptoms, especially visual hallucinations of insects and
snakes, precipitated by usual doses of psychostimulants in
the absence of any known risk factors. These symptoms
always resolve when the offending agent is stopped.
The classification of psychostimulants by the U.S. Department of Justice as Schedule II controlled substances
grew out of a concern for their potential diversion and
abuse, which begged the question of whether early psychostimulant exposure increases the risk of later substance
abuse. Meta-analysis of psychostimulant treatment studies in all age groups in which the emergence of substance
use disorders was an outcome suggests that treatment of
ADHD early and well actually reduces the risk of later
alcohol and drug abuse (Wilens et al, 2003).
Changes in pulse rate and mean blood pressure due
to these sympathomimetic agents are usually benign and
rarely vary from baseline by more than about 5%, as
measured by ambulatory blood pressure monitoring
(Samuels et al, 2006). Once considered clinically insignificant during the 1990s, growth deceleration was
found with chronic psychostimulant treatment in both
the NIMH Multimodal Treatment Study of Children
with Attention-Deficit/Hyperactivity Disorder (Swanson
et al, 2007) and the Preschool ADHD Treatment Study
(Swanson et al, 2006). There is no clear understanding
of either the mechanism or longer term outcome of
growth slowing after discontinuation of treatment.
Exceedingly rare cases of sudden death in children
and adults who were taking psychostimulants have occurred, but at rates far below published background risk,
which nevertheless has prompted the FDA to require a
label warning. A review of the Adverse Events Reporting
System data found that the majority of patients who died
suddenly while taking mixed amphetamine salts had preexisting cardiac structural anomalies. A review of deaths
associated with methylphenidate treatment similarly revealed cases in which cardiac structural anomalies were
found. Motivated in part by these events and in part by
practice in Japan and Europe, the American Heart Association Science Advisory and Coordinating Committee
published a 2008 recommendation that all children,
regardless of the absence of risk, have pretreatment
ECG screening prior to starting stimulant medications
(Vetter et al, 2008). The paper touched off a short-lived
academic controversy that now appears settled with a
careful approach, endorsed by the major stakeholding
professional organizations, where positive patient and
family-targeted cardiac histories or findings on examination would trigger further input from a pediatric cardiologist, but in the absence of risk, no pretreatment ECG is
necessary (Perrin et al, 2008). The monitoring principles
listed in Table 90-5, when performed at every clinic visit,
will enhance the safety of psychostimulant treatment.
Atomoxetine
The only other medication with a current FDA
indication for ADHD is atomoxetine, a nonstimulant
first designed as a selective norepinephrine reuptake
890
Antidepressants
Studies in the 1970s showed that imipramine, a tricyclic antidepressant (TCA), effectively treated hyperactive children (Waizer et al, 1974). Multiple trials have
demonstrated the efficacy of TCAs in ADHD (Daly and
Wilens, 1998), but the FDA has never approved them
for this indication. The TCAs of choice, imipramine
and nortriptyline, have been relegated to off-label, secondary use in ADHD practice guidelines when psychostimulants or atomoxetine have failed (seeTable90-3
for suggested dosing). The use of desipramine, one
of the most effective tricyclics in ADHD, has largely
been abandoned after reports were published of
sudden death in children taking this medication
(Biederman etal, 1995).
Imipramine and nortriptyline block both norepinephrine and serotonin reuptake transporters, but with different relative potencies. Both also act on presynaptic
autoreceptors and antagonize histaminic and cholinergic receptors, which accounts for their less favorable
adverse effects compared with psychostimulants and
atomoxetine. TCAs are highly protein bound and are
metabolized by demethylation of side chains and hydroxylation of ring structures by the CYP 450 2D6 system, posing a risk of significant drug-drug interactions.
Elimination half-lives are 5 to 30 hours and 1 to 2 days
for imipramine and nortriptyline, respectively.
The risk of cardiac conduction changes caused by
TCAs demands electrocardiography before initiation,
during titration, and periodically during treatment. If the
PR interval widens beyond 210 msec and the QTc interval exceeds 450 msec, the TCA should be stopped. Heart
rate and blood pressure should be measured routinely,
with discontinuation recommended if blood pressure
rises to 130/85 mm Hg during treatment. For additional
safety, serum imipramine and nortriptyline trough levels
should be measured at the effective dose and should not
exceed 250 ng/mL or 100 ng/mL, respectively.
Bupropion, developed as a novel norepinephrine and
dopamine reuptake inhibitor antidepressant in the 1980s,
appears to be superior to placebo in the treatment of
ADHD (Conners et al, 1996) but has not gained FDA approval for that indication. Marketing of bupropion was
halted for 3 years because bulimic patients developed
seizures taking the high doses recommended at the time.
Bupropion should not be used in children or adolescents
with a known seizure or eating disorder. Adverse effects
are similar to those of the stimulants and atomoxetine,
including the induction or exacerbation of tics, but excluding cardiovascular risk (see Table90-4). It is available in
immediate release, sustained release, and extended release
delivery systems. Although bupropion has the FDA indication for smoking cessation programs in adults, there is
no evidence to support its effectiveness in smoking prevention in youth with ADHD (Monuteaux et al, 2007).
None of the antidepressants in the selective serotonin
reuptake inhibitor (SSRI) class is effective in treating the
core symptoms of ADHD. Existing studies in which children with ADHD were given SSRIs are confounded by
the comorbidity of depression, by lack of placebo controls, and by lack of power. Venlafaxine, a serotonin and
norepinephrine reuptake inhibitor (SNRI), generated interest as a possible ADHD treatment because of its norepinephrine transporter antagonism, at first in very small
trials with adults and later in youth (Olvera etal,1996).
However, no large-scale RCT is available to support the
inclusion of venlafaxine in existing ADHD treatment protocols for children or adolescents. The same holds true for
two other marketed SNRIs, duloxetine and desvenlafaxine. Finally, monoamine oxidase inhibitor antidepressants
have promise as anti-ADHD medications but are neither
approved nor suggested for use in children or adolescents
because of dangerous adverse effects discussed later.
2-Adrenergic Agonists
Two agents in this class, clonidine and guanfacine, both
with a primary indication for adult hypertension, have
been used alone and in combination with stimulants to
treat the hyperarousal, agitation, impulsivity, low frustration tolerance, and insomnia associated with ADHD.
Clonidine is not FDA approved for ADHD, but guanfacine in a sustained release delivery vehicle is pending approval as of this writing. Clonidine and guanfacine are
thought to work in specific brain regions in two ways:
first, by presynaptic regulation of neuronal norepinephrine output from the locus ceruleus to reduce arousal;
and second, by postsynaptic stimulation of prefrontal
cortical neurons that regulate planning, impulse control,
and to a lesser extent attention (Arnsten et al, 1996).
Many studies of clonidine have shown efficacy, with
an effect size smaller than that of stimulants, in reducing the hyperactive-impulsive symptoms of ADHD,
but not in improving attention (Connor et al, 1999). A
recent multicenter RCT of guanfacine in an extended
release delivery vehicle demonstrated its effectiveness
in both improving attention and reducing hyperactivity
(Biederman et al, 2008). Immediate release guanfacine
is more rapidly absorbed than clonidine and has a significantly longer elimination half-life in children of 13
to 17 hours versus 6 to 12 hours for clonidine; thus,
clonidine must be dosed more frequently than guanfacine to achieve a similarly consistent effect. Clonidine
is approximately 10 times more potent than guanfacine
and causes significantly more sedation, one of the reasons it is used as a hypnotic agent in hyperactive children. It may take several weeks at steady state for either
agent to be effective. Clonidine is available in 0.1-, 0.2-,
and 0.3-mg tablets and in a transdermal delivery system.
Immediate release guanfacine has been available in 1-mg
and 2-mg tablets, but the extended release formulation
891
Antipsychotics
The tranquilizing effects of the first-generation antipsychotics, now called the typical antipsychotics, including
thioridazine, chlorpromazine, haloperidol, and others,
made them attractive agents in the 1970s to target egregious hyperactivity, aggression, and agitation in ADHD
that stimulants failed to ameliorate (Gittelman-Klein
etal, 1976). These agents act primarily as antagonists
at dopamine D2 receptors (see pharmacotherapy of psychosis). Given this mechanism of action, it would seem
counterintuitive to use these agents in the treatment of
ADHD. Indeed, D2 blockade in the mesocortical dopaminergic pathway may explain the cognitive blunting
associated with typical antipsychotics.
The arrival of the second-generation or atypical antipsychotics, with the seductive promise of safety improvements, prompted interest in their use for refractory
ADHD. The currently marketed atypical antipsychotics,
including clozapine, risperidone, olanzapine, quetiapine,
ziprasidone, aripiprazole, paliperidone, and iloperidone,
have varying affinities for multiple types of dopamine, serotonin, -adrenergic, cholinergic, and histaminic receptors. Among these atypicals, only risperidone has been
well studied in children and adolescents with ADHD.
Risperidone neither improves attention nor effectively
controls impulsivity (Gnther et al, 2006) but is effective in reducing the disruptive and aggressive behaviors
associated with ADHD (see pharmacotherapy of disruptive behavior). Antipsychotics are not approved by the
FDA for use in ADHD and do not appear in ADHD
practice parameters.
Antiepileptic Drugs
The antiepileptic drug carbamazepine gained popularity
as a potential treatment of ADHD in Europe, perhaps
because its core molecular structure is that of a TCA.
A dated meta-analysis of world literature suggested
that carbamazepine is effective for ADHD (Silva et al,
1996), but a small, controlled study showed no value in
892
Non-Benzodiazepine Hypnotics
Insomnia is a common problem in children with ADHD,
leading to the off-label use of the non-benzodiazepine
hypnotics zolpidem and zaleplon in this population.
Arecent exclusivity RCT of zolpidem failed to demonstrate efficacy for insomnia associated with ADHD (U.S.
FDA, 2006), and worrisome adverse effects emerged
during treatment, including new-onset hallucinations,
headache, and dizziness. The use of non-benzodiazepine
hypnotics cannot be recommended in the pediatric population at present.
Psychostimulants
Psychostimulants have long been considered a safe, effective, and rational first choice in treating the impulsive aggression associated with conduct disorder that is
comorbid with ADHD (Campbell et al, 1992). Mild to
moderate symptoms of disruptive behavior often remit
when ADHD symptoms are fully treated.
Antimanic Agents
The antimanic agent lithium has been studied in hospitalized adolescents with aggression and conduct disorder since the 1980s. Relatively recent RCTs have
demonstrated lithiums superiority to placebo in conduct disorder (e.g., Malone et al, 2000). The target dose
of lithium for disruptive and aggressive behavior is the
same as that for bipolar disorder, discussed in a later
section (see pharmacotherapy of bipolar disorder).
Antipsychotics
The use of typical antipsychotics for severely disruptive
behavior in childhood, substantiated by a few early trials of haloperidol, extends back 4 decades. The FDA
has approved only chlorpromazine and thioridazine
for this indication in children (see Table 90-11), but
sufficient data from multiple, double-blind, controlled
studies have shown that the atypical antipsychotic risperidone is well tolerated and acutely superior to placebo in reducing aggression and disruptive behavior in
children and adolescents (Reyes et al, 2006), in children
with subaverage intelligence (e.g., Aman et al, 2002),
and in children with normal intelligence taking stimulants for ADHD (Armenteros et al, 2007). Risperidone,
PHARMACOTHERAPY OF DEPRESSION
After World War II, when psychoanalytic theory dominated American psychiatry, childhood depression, fully
discussed in Chapter 47, was not thought possible because of psychological immaturity in the first decade of
life. Ample research supports the validity of DSM-IVTR diagnostic criteria for a major depressive episode
in school-age children and adolescents but not in preschoolers or toddlers (Luby et al, 2002).
Findings in depressed adults of deficiencies in norepinephrine, dopamine, and serotonin neuroreceptor
function and density, disturbances of the hypothalamicpituitary-adrenal and hypothalamic-pituitary-thyroid
axes, and structural differences in the medial prefrontal
cortex, hippocampus, and amygdala have not yet been
replicated in children and adolescents. Current pharmacotherapeutic strategies for the treatment of child and
adolescent depression, therefore, were derived not from
preclinical biologic models but instead from downward
extensions of trials of effective drugs in adults.
In its practice parameters, the American Academy of
Child and Adolescent Psychiatry divides the treatment
of pediatric depression into three phases: an acute phase
during the first 6 to 12 weeks; a continuation phase for
4 to 12 months; and a maintenance phase beyond 1 year
(Birmaher et al, 1998). Nearly all existing drug trials of
antidepressant efficacy in children and adolescents are
limited to the acute phase.
Tricyclic Antidepressants
The impressive response rates of depressed adults to
TCAs led to their early use in child and adolescent
depression. A systematic review of all 13 published
893
randomized, controlled trials of TCAs in pediatric depression revealed uniform failure of every trial, with response rates indistinguishable from placebo treatment
(Hazell et al, 2002). Taken together with their problematic adverse effects (see Table 90-4) and potential lethality in overdose, this clear lack of evidence for efficacy
argues strongly against the use of TCAs in depressed
youth.
Parent Half-life
Metabolite with
ntidepressant Effect?
A
Metabolic
Inhibition*
Time to Steady
State
Pediatric
Indication
Fluoxetine
Sertraline
Paroxetine
Fluvoxamine
Citalopram
Escitalopram
4-7 days
27 hours
21 hours
15 hours
35 hours
30 hours
CYP 2D6
CYP 3A4
CYP 2D6
CYP 1A2
CYP 2C19
CYP 2C19
4-6 weeks
1 week
10 days
2 weeks
1 week
1 week
MDD, OCD
OCD
None
OCD
None
None
*Most
894
found that weight loss, slight growth deceleration, behavioral activation, and higher plasma concentrations
of drug occur in smaller children.
The emerging story of the remaining SSRIs in RCTs
for pediatric depression is mixed. Two large, controlled studies of sertraline in depressed children and
adolescents, aged 6 to 17 years, treated with a mean
dose of 131 mg daily, were both negative when considered individually; but when the data were pooled in
a repeated-measures, mixed model analysis, the drug
appeared efficacious (Wagner et al, 2003). Three large,
multisite, exclusivity studies of paroxetine in depressed
children and adolescents, aged 7 to 17 years in aggregate, treated with 20 to 40 mg daily, failed to show
a difference between drug and placebo response (U.S.
FDA, 2002). Fluvoxamine has not been studied in a
large RCT as monotherapy for pediatric depression.
One positive exclusivity RCT of citalopram for pediatric depression yielded a response rate of 36% at 20
to 40 mg daily, compared with a placebo response rate
of 24%, a statistically significant difference but not an
impressive treatment effect (Wagner et al, 2004b). Escitalopram was recently found to be no more effective
than placebo in a large RCT of depressed children and
adolescents, aged 6 to 17 years, given 10 to 20 mg daily
(Wagner et al, 2006).
Why should so many well-designed, well-controlled
studies of these antidepressants yield negative results
that run contrary to the experience of many clinicians in
practice? Part of the reason may be buried in the rules of
the studies. Study drugs were often titrated to the presumed target dose for effectiveness rather quickly, causing intolerability and study dropouts, especially among
younger children. Differing methodologies, recruitment
tactics, and exclusion criteria and the effect of conducting
studies across multiple, sometimes international sites
have all been suggested as confounding factors. The
impressive placebo response rate in all studies makes it
Adverse Effects
Therapeutic
Significant
overdose*
Abrupt withdrawal
*Serotonin
syndrome.
syndrome.
Discontinuation
The enzyme monoamine oxidase (MAO) occurs in humans in two forms, MAO-A and MAO-B. In neurons,
MAO-A catabolizes norepinephrine and serotonin by
deamination; both MAO-A and MAO-B destroy intraneuronal dopamine and tyramine. A class of drug called
monoamine oxidase inhibitors developed in the 1950s
created excitement after the serendipitous discovery of
their antidepressant effect, hypothetically due to accumulation of neurotransmitters in the synaptic cleft by
curtailing of their intracellular catabolism. Monoamine
oxidase inhibitors have been synthesized with two important properties, reversibility and selectivity, to improve targeting of the central nervous system and to
reduce their potentially dangerous drug-drug and drugfood interactions. Precisely because required dietary
restrictions, avoidance of amphetamines, and severe
central nervous system toxicity and cardiovascular instability in overdose present risky obstacles to the use of
monoamine oxidase inhibitors in depressed, impulsive
adolescents, there has been little interest in and no large
scale RCTs in this age group.
895
First synthesized in 1966, bupropion and its active hydroxylated metabolite inhibit the norepinephrine and dopamine reuptake transporters with little effect at other
receptor sites. Largely protein bound, it is extensively metabolized by the hepatic CYP 450 2B6 pathway, resulting in significant drug-drug interactions. Its elimination
half-life is about 12 hours. The launch of bupropion to
market some 20 years after its synthesis was aborted because of reports of seizures in nondepressed, bulimic patients. Eventually introduced in 1989, the recommended
maximum daily dose in adults was 450 mg, above which
it becomes potentially epileptogenic. There is a paucity of
studies, mostly open label, to support the use of bupropion
in children and adolescents as monotherapy for a major
depressive episode, and as of this writing, there have been
no large-scale RCTs for this purpose registered with the
FDA. Whether bupropion is any better than placebo in
the treatment of pediatric depression is unknown.
896
At 12 weeks, fluoxetine monotherapy was more costeffective than combination treatment, but both proved to
be at least as cost-effective as routine primary care for adolescent depression (Domino et al, 2008). Interestingly,
by 36 weeks, the difference in response rates among the
active TADS conditions essentially disappeared; however, response was accelerated in the conditions in which
fluoxetine was used, whereas CBT appeared to confer enhanced safety with greater reduction in suicidal ideation
in the conditions in which it was used (March et al, 2007).
A British trial conducted with 208 moderately to severely
depressed adolescents in which half were randomized
to an SSRI (fluoxetine preferred) with routine care and
half were randomized to an SSRI plus CBT and routine
care showed neither a difference in outcome measures
nor any protective effect of CBT at 12 weeks (Goodyer
et al, 2007). The Treatment of SSRI-Resistant Depression
in Adolescents (TORDIA) addressed the problem of depressed youth who do not respond to an initial adequate
trial of fluoxetine (or other SSRI) monotherapy. The
TORDIA study randomized 334 depressed adolescents
to monotherapy with an alternative SSRI, monotherapy
with venlafaxine, combination CBT plus the alternative
SSRI, or combination CBT plus venlafaxine. Switching to
any condition resulted in a significant response rate with
fewer adverse effects due to the alternative SSRI compared with venlafaxine, but a clearly superior response,
consistent with the TADS findings, resulted when either
combination treatment was used (Brent et al, 2008).
PHARMACOTHERAPY OF ANXIETY
Anxiety, discussed more completely in Chapter 47, can
range from a protective alerting signal to diffuse apprehension, tension, or fear in response to real or imagined
threats. Anxiety can be impairing when the response,
mediated through the autonomic nervous system, is excessive, involuntary, persistent, and pervasive, leading
to avoidance and distress if not physiologic, emotional,
cognitive, or behavioral dysfunction. The principal neurotransmitters involved, and the targets for modulation
by effective anxiolytic agents, are serotonin, norepinephrine, and gamma-aminobutyric acid.
Tricyclic Antidepressants
Effective in adult anxiety disorders, TCAs were among
the first agents considered in treatment of childhood
anxiety. Imipramine was the most commonly studied
897
Indication
Clomipramine
OCD
Fluoxetine
OCD
Sertraline
Fluvoxamine
OCD
OCD
Doxepin
GAD
Meprobamate
GAD
Hydroxyzine
GAD
Evidence in Anxiety
Exclusivity Studies
Starting Dose
(mg daily)*
100-200 mg daily
12.5/25
20-60 mg daily
5-10/10-20
50-200 mg daily
50-200 mg daily
divided bid
A tricyclic antidepressant
12.5/25
12.5/25
Abuse potential,
fatal in overdose
Bronchodilator,
antihistamine
Not suggested
Not suggested
Not suggested
*Child/adolescent.
OCD, obsessive-compulsive disorder; GAD, generalized anxiety disorder; RCT, randomized, placebo-controlled trial.
Off-Label Use
Evidence
Fluvoxamine
Fluoxetine
Sertraline
GAD
Buspirone
GAD
Venlafaxine
GAD
Paroxetine
SoP
*Child/adolescent.
Starting Dose
( mg daily)*
50-300 mg daily
12.5/25
20 mg daily
5-10/10-20
50 mg daily
12.5/25
Not suggested
Growth deceleration
Not suggested
10-50 mg daily
5/10
GAD, generalized anxiety disorder; SAD, separation anxiety disorder; SoP, social phobia; RCT, randomized, placebo-controlled trial.
898
Benzodiazepines
Benzodiazepines, first synthesized in the 1950s, have an
affinity for a receptor complex that modulates GABA
activity, inhibiting specific neurons that contribute to
anxiety. In adults, benzodiazepines are also used to treat
insomnia, agitation, seizures, and withdrawal syndromes
and as preanesthesia and muscle-relaxing agents. Benzodiazepines are rapidly absorbed and have elimination
half-lives, depending on the particular agent, ranging
from 2.5 to 100 hours.
The literature on controlled trials of benzodiazepines in children and adolescents is, however, vanishingly small. This may be due to a concern for the
development of tolerance or addiction as seen in some
adults, a disinhibition phenomenon seen in children,
or problematic adverse effects, including sedation, irritability, rage, hyperarousal, perceptual disturbances,
and seizures on abrupt withdrawal. One dated RCT
of alprazolam in children and adolescents with generalized anxiety disorder and social phobia failed to
show any benefit of the drug over placebo (Simeon
et al, 1992). Clonazepam seems to be of little use
in separation anxiety disorder (Graae et al, 1994).
At present, there are no data to support acute or longterm treatment of child and adolescent anxiety with benzodiazepines. Their utility in the pediatric population
remains limited to special applications, such as rapid
tranquilization, preanesthesia, and aborting seizures.
Buspirone
Buspirone is a serotonin receptor agonist and mixed dopamine agonist-antagonist. It has no activity at GABA
receptors. Open trials during the 1990s suggested the
efficacy of buspirone in pediatric anxiety, but two wellcontrolled FDA exclusivity studies failed to demonstrate
any difference between drug and placebo treatment (U.S.
FDA, 2007a). At present, there is little support for the
use of buspirone in pediatric anxiety.
Antihistamines
Hydroxyzine, a histamine H1 and muscarinic antagonist, has been shown to be effective in adults with
generalized anxiety disorder (Llorca et al, 2002). This
relatively recent finding cannot account for the decades
old practice of prescribing hydroxyzine or diphenhy
dramine to children for anxiety without any supporting
data. Both antihistamines are used off-label as hypnotics
in children and adolescents, and diphenhydramine is a
well-known intervention for acute dystonias caused by
typical antipsychotics. Adverse effects associated with
antihistamines are legion, including, to list a few, sedation, gastrointestinal distress, anticholinergic effects,
hallucinations, agitation, and even death in overdose.
Glutamate Antagonists
Treatment-resistant cases of pediatric OCD are not
uncommon. Animal models of OCD have strongly
implicated excessive production of the excitatory neurotransmitter glutamate in the pathogenesis of this anxiety disorder (Mcgrath et al, 2000). Preliminary studies
of riluzole, a glutamate antagonist, have suggested its
efficacy in adults with OCD. One open label trial of riluzole in a small pediatric sample of treatment-resistant
children and adolescents provided further evidence of
its potential efficacy and safety (Grant et al, 2007). As a
result, a randomized, controlled trial of riluzole in children and adolescents with OCD, including those with
autistic spectrum disorders, sponsored by the NIMH is
in the recruiting phase as of this writing.
PHARMACOTHERAPY OF PSYCHOSIS
Schizophrenia, discussed in Chapter 48, is exceedingly
rare in childhood, generally being manifested in late adolescence and frequently comorbid with anxiety, depression, substance abuse, disruptive behavior, and learning
disorders. A complex neuropsychiatric disorder, its
treatment must be multimodal, including medication
management, psychoeducation, psychotherapy, family
support, and educational or vocational consultation.
Typical Antipsychotics
Chlorpromazine, the first typical antipsychotic discovered just after World War II, the impact of which on
public health has been compared with that of penicillin,
Table 90-10. Adverse Effects Associated with
First-Generation Antipsychotic Receptor Antagonism
Receptor
Mesocortical and
mesolimbic dopamine
Tuberoinfundibular
dopamine
Nigrostriatal dopamine
Muscarinic cholinergic
1-Adrenergic
2-Adrenergic
Histamine H1
899
Table 90-11. First-Generation Antipsychotics with Trials in Children and Adolescents and Risks
Agent
Metabolic Inhibition*
Thioridazine
CYP 2D6
Chlorpromazine
CYP 2D6
Haloperidol
Pimozide
CYP 2D6
CYP 3A4
Loxapine
Fluphenazine
CYP 2D6
CYP 2D6
*Most
FDA Pediatric
Indication?
Yes, severe behavioral
dyscontrol
Yes, severe behavioral
dyscontrol
Yes, psychosis
Yes, Tourette disorder
> age 12 years
No
No
Potency
EPS
Sedation
Endocrine
Low
Low
High
High
Low
Low
High
High
High
Moderate
High
Moderate
Low
Moderate
Low
Moderate
Moderate
High
High
High
Moderate
Low
Moderate
Low
900
Parent Half-life
Metabolic Inhibition*
Clozapine
Risperidone
12 hours
3 hours
1A2/3A4
2D6/3A4
Olanzapine
36 hours
1A2/2D6
Quetiapine
Ziprasidone
Aripiprazole
Paliperidone
6 hours
4 hours
68 hours
23 hours
3A4
3A4 (slight)
2D6/3A4
2D6/3A4
Iloperidone
14 hours
1A2/3A4
*Most
Atypical Antipsychotics
Clozapine, synthesized in Switzerland in 1958, was the
first of a second generation of antipsychotics, now called
atypicals. Clozapine was removed from the European
market in 1975 after the death of eight Finnish patients
who developed agranulocytosis. Mandatory, intensive
hematologic monitoring for agranulocytosis, shown to
be reversible if it is discovered in time, was required
by the U.S. FDA for approval of clozapine in 1990.
Clozapine is still considered to be the most effective
antipsychotic available for the treatment of refractory
schizophrenia. Seven more atypical antipsychotics,
shown in Table 90-12, have been brought to market in
fairly rapid succession. Atypical antipsychotics are also
known as dopamine-serotonin antagonists because of
their affinity for dopamine D2 and serotonin S2A receptors. The difference among them is their variable effects,
from negligible to significant, on -adrenergic, muscarinic cholinergic, and histaminic receptors. The atypicals
were initially touted as safer than the first-generation antipsychotics with respect to extrapyramidal side effects
and risk of tardive dyskinesia. However, the atypical
antipsychotic risperidone binds more tightly to dopamine receptors than dopamine itself and all of the other
atypicals, making it at least as risky for extrapyramidal
side effects as the drugs it was to replace (Seeman and
Tallerico, 1998). Quetiapine is the least tightly bound
atypical, suggesting that it has the lowest risk for extrapyramidal side effects, whereas olanzapines affinity for
dopamine receptors is about the same as that of many
low-potency typical antipsychotics. In short, the risk for
acute dystonias, akathisia, parkinsonism, and even tardive dyskinesia with the atypicals is not insignificant.
Hyperprolactinemia and enuresis are also commonly
seen in children treated acutely with risperidone.
All atypicals carry the risks of QTc prolongation,
diabetes onset or exacerbation, weight gain, insulin resistance, and hyperlipidemia, the last three of which are
collectively called a metabolic syndrome. Clozapine and
olanzapine pose the greatest risk of weight gain and diabetes, risperidone and quetiapine a moderate risk, and
ziprasidone and aripiprazole the lowest risk. The 2004
Consensus Development Conference on Antipsychotic
Drugs and Obesity and Diabetes, jointly sponsored by
the American Diabetes Association, the American Psychiatric Association, the American Association of Clinical
Endocrinologists, and the North American Association
for the Study of Obesity, published a set of monitoring guidelines applicable to patients of all ages treated
with atypical antipsychotics. The guidelines recommend baseline measurement of body mass index, waist
circumference, blood pressure, fasting plasma glucose
concentration, and fasting lipid profile, to be repeated
at 12 weeks and then annually, with the exception of
fasting lipid profile at every 5 years (American Diabetes
Association et al, 2004). Marked changes in any of these
parameters warrant a switch to another agent.
Several early, small, retrospective and open label studies suggested the effectiveness of atypical antipsychotics
in pediatric schizophrenia. In an NIMH short-duration
study of treatment-resistant children, clozapine at an average dose of 176 mg daily was more effective in relieving symptoms than haloperidol at an average dose of
16 mg daily, but it caused more adverse effects, including neutropenia and tachycardia (Kumra et al, 1996).
In a pilot study of 50 patients aged 8 to 19 years randomized to risperidone 4 mg daily, olanzapine 12.3 mg
daily, or haloperidol 5 mg daily for 8 weeks, all groups
improved regardless of the agent (Sikich et al, 2004), but
those treated with olanzapine experienced a significant
weight gain (average, 7.1 kg) and those receiving risperidone gained a moderate amount of weight (average, 4.9
kg); haloperidol caused the least weight gain (3.5 kg).
On August 22, 2007, the FDA announced approval of
risperidone for the treatment of schizophrenia in adolescents aged 13 to 17 years on the basis of two unpublished, industry-sponsored, double-blind, multicenter,
international studies requested by the FDA under the Best
Pharmaceuticals for Children Act (U.S. FDA, 2007b). In
the first controlled study, 158 patients were randomized
to placebo, risperidone 1 to 3 mg daily, or risperidone
4 to 6 mg daily. In the second study, 255 patients were
randomized either to low-dose risperidone (maximum,
901
Table 90-13. Agents with the FDA Indication for Bipolar Disorder
Agent
Class
Indications
Pediatric Evidence
Pediatric Indication?
Lithium
Antimanic agent
Yes
Chlorpromazine
Risperidone
Olanzapine
Olanzapine plus
fluoxetine
Quetiapine
Ziprasidone
Aripiprazole
Divalproex
Typical antipsychotic
Atypical antipsychotic
Atypical antipsychotic
Atypical antipsychotic
and SSRI antidepressant
Atypical antipsychotic
Atypical antipsychotic
Atypical antipsychotic
Antiepileptic
Acute mania
Acute mania
Acute mania, maintenance
Bipolar depression
Carbamazepine
Lamotrigine
Antiepileptic
Antiepileptic
Maintenance
Maintenance
Acute mania
Acute mania
Acute mania, maintenance
Acute mania
Comparison study
Case report
RCT
Case reports, open label,
comparator study
Case reports, comparison
Case reports, open label
No
Yes
No
No
No
No
Yes
No
No
No
Antimanic Agent
Lithium, the third simplest element in the universe and
a monovalent alkali metal similar to sodium and potassium, was introduced into medicine in the 1800s, but
credit for recognition of its calming effect in psychotic
agitation (the manic state of bipolar disorder) is given
to Australian psychiatrist John Cade, who published his
findings in a landmark 1949 paper (Cade, 1949). Lithiums precise mechanism of action remains incompletely
explained, but most investigators believe it directly or
indirectly alters neuronal second-messenger systems and
antagonizes serotonin S1A and S1B receptors, resulting
in calming, antidepressant, and improved sleep cycle
effects.
Extensively studied in adult bipolar disorder, there is
only one published, prospective, 6-week, double-blind
RCT of lithium in bipolar adolescents aged 12 to 18 years
that demonstrated superiority to placebo at a serum level of
0.97 mEq/L (Geller et al, 1998). Other positive published
trials were open label, randomized, controlled studies, brief
discontinuation studies, and a head-to-head comparison of
lithium to antiepileptic drugs (Table 90-13).
902
Antiepileptic Drugs
Divalproex was the first antiepileptic drug studied as a
mood stabilizer in the 1960s. It is believed to block the
catabolism of the inhibitory neurotransmitter GABA, to
increase its release, and to increase GABAB receptor density. Its popularity in adult bipolar treatment translated
into wide use in children and adolescents, yet there have
been no published, adequately powered, prospective,
double-blind, placebo-controlled studies of divalproex
in pediatric bipolar disorder. Case reports, positive
open trials, and retrospective chart reviews make up the
bulk of the evidence on which this practice is built. In
a randomized comparison of lithium, divalproex, and
carbamazepine, all three agents were judged effective
in a study of 8- to 14-year-olds with bipolar disorder
(Kowatch et al, 2000). Nausea and sedation were the
only adverse effects reported in the divalproex arm of
the study, in which the target dose was 20 mg/kg/day.
Carbamazepine, thought to inhibit neuronal voltagedependent sodium channels, is less well studied in
pediatric bipolar disorder. In the Kowatch trial, response
rates were relatively lower for carbamazepine; the common adverse effects of nausea, dizziness, rash, and sedation occurred at the target serum level of 9 to 11 g/L.
Oxcarbazepine, an analogue of carbamazepine, failed
to show efficacy in a large, double-blind RCT of 7- to
18-year-olds with bipolar disorder.
Lamotrigine is a novel antiepileptic drug that is believed to inhibit sodium flux in rapidly firing neurons,
reducing a kindling effect that purportedly explains
seizures and mood instability. It indirectly reduces the
release of the excitatory neurotransmitter glutamate. In
2003, the FDA approved lamotrigine for maintenance
treatment of bipolar I disorder in adults. Only case reports and open trials in adolescents with bipolar depression have been published. Topiramate, a GABAergic and
glutamatergic antiepileptic drug, generated early interest
in adult bipolar disorder but failed to show efficacy in
controlled trials. A double-blind, placebo-controlled,
large-scale RCT of topiramate in children with mania
was cut short while in progress in light of the failed
adult trials, so its potential efficacy in pediatric bipolar
disorder is unknown (DelBello et al, 2005). Finally, because controlled trials of gabapentin have failed to show
efficacy in adult mania, there has been virtually no interest in studying it in pediatric bipolar disorder.
Antipsychotics
The success of atypical antipsychotics across the board in
gaining FDA indications for adult bipolar disorder stimulated interest in their use in children and adolescents. An
open label monotherapy trial in 8- to 12-year-olds with
mania and a randomized, open label comparison with
olanzapine in preschoolers suggested the efficacy of risperidone in pediatric bipolar disorder. In the same August
22, 2007, announcement of its approval for use in pediatric schizophrenia, risperidone was given FDA approval for
the acute treatment of manic or mixed episodes of bipolar
I disorder in children and adolescents aged 10 to 17 years.
The decision derived from a multisite RCT of 166 patients,
aged 10 to 17 years in a manic or mixed state at the time
of treatment, who were randomized to placebo, low-dose
risperidone (0.5 to 2.5mg daily), or high-dose risperidone
(3 to 6 mg daily) and titrated to target doses within 7 to 10
days. The outcome measure was the change in the Young
Mania Rating Scale at 3 weeks. Both active drug conditions were superior to placebo in efficacy, but there was
no significant difference in improvement between high
and low doses.
On February 29, 2008, the FDA similarly announced
approval of aripiprazole for the acute treatment of
manic or mixed episodes of bipolar I disorder in children
and adolescents aged 10 to 17 years. In a multicenter,
double-blind, unpublished U.S. study between 2005 and
2007, 296 patients in a manic or mixed manic state were
randomized to low-dose aripiprazole (10 mg daily),
high-dose aripiprazole (30 mg daily), and placebo (U.S.
FDA, 2008). The outcome measure was mean change in
the Young Mania Rating Scale score from baseline to
4 weeks. Both medication conditions were superior to
placebo, but high-dose aripiprazole did not convey any
additional benefit over the low-dose condition.
A double-blind, randomized, 28-day comparison of
quetiapine to divalproex indicated that both agents were
effective in reducing scores on a standard mania rating
scale (DelBello et al, 2006). Neither this study nor any
past study of divalproex monotherapy in pediatric mania
has ever been placebo controlled. The data on ziprasidone
in pediatric bipolar disorder are limited to case reports.
On the basis of large, as yet unpublished RCTs, the FDA
is reviewing at the time of this writing the manufacturers
request for olanzapine to be granted an indication for
acute mania and schizophrenia in adolescents.
Augmentation Strategies
It has been estimated that up to half of all adults and
adolescents with mania do not respond to monotherapy with an antimanic or antiepileptic drug (Kowatch
et al, 2003). Thoughtful, treatment-specific algorithms,
including augmentation strategies, are in continuing development for pediatric bipolar disorder. The reader is
referred to the most recent treatment guidelines for children and adolescents with bipolar disorder (Kowatch
etal, 2005).
2-Adrenergic Agonists
For the treatment of mild to moderate tics, clonidine and
guanfacine are reasonable first choices among effective
agents. Clonidine has long-standing evidence for efficacy
in suppressing mild to moderate tics (Sandor, 2003). At
least one RCT has shown guanfacine to be superior to
placebo in treating both the symptoms of ADHD and
comorbid tics (Scahill et al, 2006). Tics respond to clonidine and guanfacine at the same doses used for ADHD,
but usually after several weeks of treatment.
Benzodiazepines
Several case reports suggest the utility of clonazepam in
Tourette disorder, but no RCTs have confirmed this observation. As noted before, there is little to recommend
the use of benzodiazepines for anxiety that accompanies
tic disorders.
Antipsychotics
Converging findings from functional imaging studies
have convinced some researchers that the abnormality
in Tourette disorder lies in the dopamine pathways of
the striatum (Frey and Albin, 2006). Others suggest instead that the apparent malfunction of the striatum is really the consequence of overloading by excessive input
from the cerebellum, increasingly implicated in ADHD,
OCD, autism, and other neuropsychiatric disorders
(Lerner et al, 2007). Three typical antipsychotics, haloperidol, pimozide, and fluphenazine, have been shown to be
highly effective agents in tic suppression, presumably by
postsynaptic dopamine D2 receptor blockade in the basal
ganglia. At present, only pimozide has the FDA indication for Tourette disorder in children older than 12 years.
The FDA issued a MedWatch warning on November 9,
1999, contraindicating pimozide with certain antibiotics.
Pimozide also has calcium channel blocking effects, making electrocardiographic monitoring an important safety
consideration with its use. An FDA MedWatch alert in
903
April 2006 warned against the concomitant use of pimozide and fluoxetine because of the increased risks of QTc
prolongation and erythema multiforme.
Among the atypical antipsychotics, risperidone has accumulated the most evidence for efficacy in several RCTs
in Tourette disorder, including a crossover comparison to
pimozide (Gilbert et al, 2004). Ziprasidone appeared superior to placebo in one controlled trial in 7- to 17-year-olds
with Tourette disorder, in which the only significant adverse effect was somnolence (Salee etal, 2000). There are
no available RCTs of olanzapine, quetiapine, aripiprazole,
paliperidone, or iloperidone for children or adolescents
with Tourette disorder. An open label, nonrandomized,
industry-sponsored trial of aripiprazole in Tourette disorder with or without OCD and ADHD is in the recruitment
phase at the time of this writing. The dosing and safety of
both typical and atypical antipsychotics in Tourette disorder are more fully discussed in Chapter 65.
Baclofen
In a large open trial, the muscle relaxant baclofen, which
inhibits presynaptic release of excitatory amino acids,
appeared to be efficacious in treating tics. However, a
small RCT in children 8 to 14 years old failed to demonstrate any reduction in tic severity (Singer et al, 2001).
Nicotinergic Agents
Neither controlled studies of nicotine chewing gum augmentation of neuroleptic treatment nor controlled trials
of mecamylamine, a nicotine antagonist, could demonstrate effectiveness of nicotinergic agents in the treatment of Tourette disorder.
Other Approaches
Somatic treatments promoted for Tourette disorder
that have not withstood the test of a well-designed,
randomized, placebo-controlled study include monotherapy with an androgen receptor antagonist, suggested
by the extraordinary prevalence of Tourette disorder in
boys; monotherapy with 9-tetrahydrocannabinol, the
active agent in marijuana, suggested by reports of tic
relief during substance abuse; and repetitive transcranial
904
magnetic stimulation of the motor cortex. For treatmentrefractory cases of Tourette disorder, ablative surgery
and deep brain stimulation, generally not studied in
patients younger than 18 years, have produced notable
results (Mink et al, 2006). Children with PANDAS and a
positive throat culture should be treated with antibiotics
and effective pharmacologic and behavioral therapies for
OCD and tics. Severely affected children with PANDAS
have responded to intravenous immune globulin and
plasma exchange in a randomized, placebo-controlled
trial (Swedo et al, 2004). An NIMH-sponsored RCT
comparing efficacy and safety of the anticonvulsant
levetiracetam to clonidine in children with Tourette
disorder is in progress. An open label, nonrandomized, industry-sponsored efficacy study of topiramate in
Tourette disorder is in the recruitment phase.
Antipsychotics
In parallel with the history of treatments for disruptive
and aggressive behaviors, several of the first-generation
antipsychotics were studied in ASD. The most systematic studies were of haloperidol, for which placebocontrolled trials in ASD during the 1970s and 1980s
demonstrated efficacy in treatment of aggression, hyperactivity, and stereotypies (Campbell et al, 1996).
Case reports of broader symptom improvement and
fewer adverse effects appeared with the proliferating off-label use of atypical antipsychotics in ASD. In
1997, the NIMH created the Research Units on Pediatric Psychopharmacology Autism Network (RUPPAN),
tasked with rigorous investigation of the safety and
efficacy of the atypical antipsychotics in ASD. Risperidone was selected as the study drug in the first RUPPAN, multisite RCT in 101 children with ASD, aged
5 to 17 years. Significant reduction in aggression, irritability, and hyperactivity was obtained at 0.5 to 3.5
mg daily (McCracken et al, 2002). The most prominent
adverse effect was an average weight gain of 2.7 kg after
8 weeks. In a nearly identical study published 2 years
later, children and adolescents with ASD responded to
risperidone at an average dose of 1.17 mg daily with
Antidepressants
The Childrens Health Act of 2000 mandated creation
of an autism research network to facilitate a series of investigations called Studies to Advance Autism Research
and Treatment (STAART). The reported dysfunction
of serotonin in ASD as well as associated symptoms of
anxiety, obsessional behavior, and irritability argued
persuasively for trials of SSRIs in patients with ASD.
The risk of such intervention is that the most common
adverse effects of SSRIs, especially in vulnerable children, happen to be agitation, anxiety, and hostility.
Nevertheless, STAART 1 was a randomized, controlled
trial of citalopram in 149 pediatric patients with ASD
targeting repetitive behaviors, presumably analogous
to compulsions. The results had not been published at
the time of this writing. Meanwhile, a controlled trial of
liquid fluoxetine in 39 children with ASD published in
2005 demonstrated superiority to placebo in the treatment of repetitive behaviors at an average dose of 10 mg
daily (Hollander et al, 2005). The effect size was high,
and adverse effects reported in treated children were indistinguishable from those in the placebo group.
A significant finding in children with autism is that
serotonin synthesis is abnormally low in the first year of
life, climbing steadily through the first decade to adult
production levels and then exceeding normal production by 20%. In normal infants, serotonin synthesis
and frontal lobe synaptogenesis is extraordinarily high,
which then decreases across the first decade to adult levels (Bethea and Sikich, 2007). These observations raise
the intriguing possibility that early treatment with a serotonergic agent might alter the developmental trajectory of infant brains with ASD toward a more normal
course. DeLong showed in an open label, uncontrolled,
nonrandomized trial of fluoxetine in 2- to 7-year-olds
with ASD that 59% of subjects had good to excellent
improvement in language acquisition after a mean treatment duration of 21 months (DeLong et al, 1998).
STAART 2, launched in July 2005, is an ambitious RCT
of fluoxetine in young children 30 to 58 months of age
905
with ASD. The objective is to assess the safety and impact of early SSRI treatment on neural plasticity with
the hope of positively influencing development.
Antiepileptic Drugs
The comorbidity of seizures with ASD has been recognized since the days of Leo Kanner. Studies of the antiepileptic drug divalproex in ASD have generally been
open label, and at least one has shown behavioral as
well as electroencephalographic improvements (Plioplys,
1994). A controlled study sponsored by the National Institute of Neurological Disorders and Stroke to test the
efficacy and safety of divalproex in children and adolescents with ASD, aged 5 to 17 years, is in progress.
One small, double-blind, placebo-controlled study of
lamotrigine titrated to 5 mg/kg/day in 28 children with
ASD who did not have a seizure disorder failed to show
improvement on any measure of the core symptoms of
autism (Belsito et al, 2001).
Psychostimulants
Despite the high rate of inattention and hyperactivity
in children with ASD, little systematic effort has been
expended in studying the psychostimulants in this population. Early clinical studies and practical experience
suggested that psychostimulants can be quite toxic, if
not ineffective, in children with ASD. Consequently,
the RUPPAN chose as their second study a randomized,
placebo-controlled, crossover trial of IR methylphenidate in 72 children, aged 5 to 14 years, with pervasive
developmental disorders and moderate to severe hyperactivity. Dosing was flexible but never exceeded about
75% of typical doses used in the MTA study of normal
children with ADHD. Thirteen patients dropped out of
the study because of adverse effects, and only 35 of the
remainder, or 49%, were considered responders. This
study may not generalize to all psychostimulants or delivery vehicles, but it seems clear that ASD conveys vulnerability to stimulant adverse effects, limiting conventional
treatment for comorbid inattention and hyperactivity.
There are two additional NIMH-sponsored RCTs of
methylphenidate in autism and pervasive developmental
disorder nearing completion as of this writing.
2-Adrenergic Agonists
When stimulants fail or cannot be tolerated by children
with ASD and ADHD, the 2-adrenergic agonists clonidine and guanfacine should be considered. The short
half-life and sedative characteristic of clonidine may
limit its usefulness in this population. An open label,
8-week, multisite trial of guanfacine was conducted as
a companion to the RUPPAN methylphenidate study
previously described
Other Approaches
Antipsychotics
Attempts to take advantage of the weight gain associated with typical antipsychotics motivated their use in
anorexia nervosa as early as the 1960s. These agents, including chlorpromazine, pimozide, and sulpiride, failed
to provide lasting results and caused many unpleasant adverse effects. Interest in atypical antipsychotics to induce
weight gain, if not to mitigate core symptoms of anorexia
nervosa, has been increasing, but as of this writing, there
are no published, positive RCTs to support this practice
(controlled trials of olanzapine and risperidone are nearing completion). Antipsychotics have no role in the treatment of the core symptoms of bulimia nervosa.
Serotonin Antagonists
Cyproheptadine, a histamine H1 and serotonin S2A antagonist generally used for allergies and known to cause
weight gain, was considered for use in anorexia nervosa.
In a dated, placebo-controlled, head-to-head trial with
amitriptyline, cyproheptadine was weakly effective in
decreasing the time to goal weight and at high doses
seemed to have an antidepressant effect in anorectic
patients (Halmi et al, 1986).
906
Antidepressants
A theoretical link between serotonin dysfunction and
enhanced satiety as well as their convincing safety and
efficacy record in the treatment of depression and anxiety made SSRI antidepressants logical choices for study
in anorexia nervosa. A systematic review of the strongest
existing RCTs in anorexia nervosa with fluoxetine was
disappointing, in which neither core symptom reduction
(Claudino et al, 2006) nor relapse prevention (Walsh
etal, 2006) was shown. In contrast, the Fluoxetine
Bulimia Nervosa Study Group demonstrated that fluoxetine at 60 mg daily was superior to placebo in reducing the frequency of bingeing and purging and was well
tolerated (Fluoxetine Bulimia Nervosa Study Group,
1992). A subsequent meta-analytic review of 19 RCTs
of antidepressants across nearly all classes (TCAs, SSRIs,
monoamine oxidase inhibitors, serotonin S2 antagonist
and reuptake inhibitors, norepinephrine and dopamine
reuptake inhibitors) found that treatment with these
agents was superior to placebo in relieving the symptoms of bulimia nervosa (Bacaltchuk and Hay, 2003).
Fluoxetine is the only medication with an FDA indication for bulimia nervosa.
Failed Approaches
Use of the prokinetic agent cisapride, a weak serotonin
S3 antagonist and smooth muscle stimulant, was conceived as a way to increase gut motility usually impaired
in anorexia nervosa. A small RCT of cisapride in anorectic patients failed to improve gastric emptying or to
cause weight gain (Szmukler et al, 1995), perhaps fortuitously, as cisapride was pulled from market shelves on
June 14, 2000, because of its association with prolonged
QT intervals, ventricular dysrhythmias, and deaths from
torsades de pointes. A small RCT of lithium in anorexia
nervosa was conducted, but the anticipated outcome of
weight gain could not be shown (Gross et al, 1981). The
appetite-stimulating effect of cannabis prompted a shortduration RCT comparing oral 9-tetrahydrocannabinol
to diazepam in anorexia nervosa, but no benefit was
demonstrated (Gross et al, 1983). Finally, the association of appetite disruption and weight loss with zinc deficiency led to three RCTs of zinc supplementation in
anorexia nervosa, none of which resulted in any difference in core symptoms (Lask et al, 1993).
SUMMARY
Psychopharmacologic agents available today offer
symptom relief but not cures, sometimes accompanied
by unknown risks that must be balanced against inaction. Neuroscientists think of psychotropic medications
as potential mediators of neural circuits, biasing them
toward normal information processing (March and
Wells, 2003). Clinical practitioners see psychotropic
medications as imperfect but powerful tools in a kit of
interventions to facilitate a patients return to health.
If evidence-based medicine has taught us nothing else,
it has made clear that combination or multimodal treatments are generally superior to monotherapies and that
targets of treatment are rarely singular. For example,
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91
PEDIATRIC SELF-REGULATION
Dale Sussman Gertz and Timothy Culbert
Through the use of self-regulation, children are encouraged to acknowledge and to take ownership of
their problem and to be an active participant in improving their health.
Behavioral modification, environmental manipulations, and psychopharmacologic interventions are important and proven treatment strategies that approach
biobehavioral problems from an external standpoint.
Through the use of self-regulation strategies, children
and adolescents develop an internal sense of control
over problems and symptoms. They feel less helpless
and become involved in their own care.
912
Self-hypnosis
Biofeedback
Relaxation or
diaphragmatic
breathing
Progressive muscle
relaxation
Autogenics
Cognitivebehavioral therapy
Self-monitoring
Mind-body
education
Meditation
Yoga
A childs age, developmental strengths and weaknesses, and natural talents and interests are all taken
into account in crafting a self-regulation treatment plan.
In many instances, mind-body therapies are integrated
with other therapies for successful pain or symptom
management. For example, biofeedback games can be
used initially as a comfortable, fun, and tangible way to
begin treatment. Self-hypnosis may be introduced later
with other relaxation methods, including diaphragmatic
breathing, progressive muscle relaxation, and autogenics. After the initial consultation, most children are
able to learn several self-regulation strategies and to
achieve good symptom control within four to six 30- to
40-minute sessions.
When a child is referred for self-regulation training,
it is important to complete a comprehensive assessment
and to identify treatable organic disease and psychiatric comorbidity. A patients family and cultural context
should be taken into consideration during the evaluation. In one group of 80 children with behavioral symptoms who were referred specifically for hypnotherapy,
20 of those children were found to have an undiagnosed
medical problem that explained their symptoms (Olness
and Libbey, 1987).
Biofeedback
Biofeedback is the use of electronic or electromechanical equipment (usually computer based) to measure
and then to feed back information about physiologic
913
Explanation
Peripheral temperature
(thermography)
Breathing
(pneumography)
Exhaled carbon
dioxide level
(capnometry)
Heart rate (photoplethysmography)
Heart rate variability
Muscle tension
(electromyography)
Skin conductance,
electrodermal
activity
Electroencephalographic biofeedback
or neurofeedback
The current availability of computerized biofeedback equipment with game-display type formats is
culturally syntonic with present-day youth and offers
an attractive and engaging treatment vehicle. Biofeedback display formats that are set up as games offer
intrinsically motivating elements that can enhance the
patients engagement in the treatment process. Patients
can be coached to achieve desired therapeutic outcomes
(e.g., decreased muscle tension, slow diaphragmatic
breathing) through participation in games that challenge
them and that also hold their attention with high-quality
graphics and audio (Figs. 91-1 and 91-2).
914
There are a number of common myths and misperceptions about hypnosis. Hypnosis is not a sleeplike state.
Individuals in hypnotic states cannot be forced to do
things against their will. In fact, there is usually heightened awareness of physical sensations and increased
self-control in a hypnotic trance. Pediatric practitioners
hold that all hypnosis is self-hypnosis and therefore the
therapist can facilitate and influence but not control
those experiences for pediatric patients. The process of
engaging in self-hypnosis typically involves discrete steps
including induction, deepening, therapeutic suggestion,
re-alerting, and de-briefing (Table 91-4).
Self-hypnosis has a wide variety of valuable applications (see Table 91-2). It is highly personalized for each
child, with particular consideration given to his or her
developmental status. Most practitioners agree that a
child should have at least a developmental age equivalent
of 5 to 6 years for hypnotherapy to be effective. Children are readily susceptible to hypnosis, with hypnotic
susceptibility increasing markedly in middle childhood.
Deepening
Therapeutic
suggestion
Re-alerting
De-briefing
Cognitive-Behavioral Therapy
Cognitive-behavioral therapy is a therapeutic technique
that emphasizes a persons awareness of internal positive
and negative self-talk patterns and behavioral habits and
helps that person develop effective problem solving strategies. Children are coached in the self-directed development
of positive coping strategies and in enhanced perceptions
of self-efficacy. They are encouraged to identify problematic situations and to respond with acceptable adaptive
behavior. Selecting age- and reading levelappropriate selfhelp books can be an effective part of cognitive-behavioral
therapy as well (www.freespirit.com). Cognitive-behavioral therapy can be very beneficial with impulse control
problems, anxiety, and acute and chronic pain.
Diaphragmatic Breathing
Breathing control is a seemingly simple skill but one with
extremely powerful and widespread applications. Diaphragmatic breathing, also called belly breathing, is useful for many different pediatric problems, including sleep
disturbance, rumination, panic and performance anxiety
symptoms, somatic complaints including headache and
recurrent abdominal pain, anger management, chronic
conditions such as asthma, and disorders related to autonomic nervous system dysregulation. It can be particularly helpful for children undergoing painful medical
procedures such as venipuncture, bone marrow aspiration, and laceration repair. The basic technique involves
coaching children in the development of a relaxed, rhythmic breathing pattern that results in a controlled, deep
state of relaxation. Often, encouraging younger children
to blow bubbles facilitates their use of breath control.
Autogenics
Autogenics training teaches the use of a number of selfadministered, repetitive suggestions involving ones
awareness and experience of sensations of warmth,
heaviness, and relaxation throughout various regions
of the body (Linden, 1990). Progressive muscle relaxation and autogenics are particularly beneficial in the
t reatment of sleep onset problems, headaches, myofascial pain, and anxiety-related symptoms in children.
Yoga
Yoga is a physical activity that has been shown to reduce stress, to increase self-awareness and flexibility
and strength, and to help create a positive body image.
It works in part by affecting brain -aminobutyric acid
levels (Streeter et al, 2007). There are several different
types of yoga that use a combination of posture, breath
control, concentration, and self-restraint as the basis
for therapy. Yoga has been shown to be beneficial for
treatment of children with respiratory conditions (Jain
et al, 1991), risk indices associated with the insulin
resistance syndrome (Innes et al, 2005), stress-related
conditions, hypertension, menstrual problems, carpal
tunnel syndrome, and insomnia. A particular method of
yoga called Sonia Sumar is designed to be used by specially trained professionals with children who have special needs, including Down syndrome, cerebral palsy,
autism, attention-deficit/hyperactivity disorder, and
learning disabilities (www.specialyoga.com). Yoga also
appears to be a promising intervention in teens with irritable bowel syndrome (Kuttner et al, 2006).
Meditation
Meditation is a conscious mental process in which a person learns to focus attention and to suspend his or her
normal stream of thoughts to achieve a state of greater
physical relaxation and mental calmness. There are
three basic kinds of meditation (concentrative, mindfulness, and expressive) that have four basic elements in
common: quiet location, specific comfortable posture,
focus of attention, and open attitude (National Center
for Complementary and Alternative Medicine). Meditation has been used successfully to treat hypertension
in adolescents, irritable bowel syndrome, stress-related
issues, headaches, asthma, and pain conditions and to
reduce seizure frequency in patients with epilepsy.
Psychoneuroimmunology
Psychoneuroimmunology can be defined as the study
of interactions between behavior, neural and endocrine
function, and immune processes (Ader et al, 1995).
Ongoing research suggests that the mind and body share
bidirectional influences (Hidderley et al, 2004), and the
science of psychoneuroendoimmunology (or psychoneuroimmunology and neuroendocrinology) identifies
specific mechanisms by which these mind-body changes
are mediated. The mind and body communicate bidirectionally continuously through chemical messengers.
Positive and negative affective states probably create different neuroimmune responses in the body and
thus influence health and recovery from illness (Cohen
and Herbert, 1996; Olness, 1990). Two competing responses, the stress response (Selye, 1965) and the relaxation response (Lazar et al, 2000), counterbalance each
other on an ongoing basis.
Under stressful conditions the body produces excess
cortisol, which has been shown to affect the immune
system (Lengacher et al, 1998). When the relaxation response is elicited, health-promoting chemicals including
915
CLINICAL APPLICATIONS
Self-regulation strategies (see Table 91-1) are commonly used sequentially or simultaneously in an integrated or layered behavioral treatment plan. These
self-regulation techniques have several common characteristics. Perhaps the most important and generic component of these strategies is the emphasis on mastery,
coping and control achieved by the child or adolescent.
Children are often taught several self-regulation techniques either alone or in combination and are encouraged to choose the therapeutic strategies that they find
most effective and enjoyable to use in home practice.
Portable, low-cost biofeedback devices, such as
biodots, can be used at home independently so that a
child can see tangible results of a practice. Biodots are
small adhesive discs that change color as skin temperature changes and are placed somewhere on the hands.
An individual can track temperature readings before
and after practicing a mind-body technique. A positive
temperature change is usually observed after the body is
in a relaxed state for 10 to 15 minutes, and the success
of changing peripheral temperature serves as reinforcement for the child to continue the daily self-regulation
practices. Other home training devices, such as the emWave from HeartMath (www.heartmath.com) and the
Wild Divine (www.wilddivine.com) biofeedback game
products for kids, are also useful (see Fig. 91-2).
Nocturnal Enuresis
Self-regulation techniques can be very useful in treating
children with disorders of elimination, such as enuresis
and encopresis. Self-hypnosis has been well described as
a helpful strategy for children with primary nocturnal
enuresis (Banerjee et al, 1993; Olness, 1975). Conditioning alarms, which are considered to be biofeedback
devices, are also very effective (Glazener et al, 2003).
In the following vignette, Laura achieved 100% nighttime dryness after only one meeting. Pediatric patients are
introduced to self-hypnosis on the first or second visit.
During the next three or four follow-up appointments,
they review and practice their skills and typically achieve
increasing dryness. Although some children become dry
after only one visit, many children require several visits
before resolving their problem. The drawing of the urinary system and the mind-body connections depicted in
Figure 91-3 was done by an 8-year-old boy at a followup visit for nocturnal enuresis.
916
Vignette
Laura, a 912-year-old girl, wet the bed almost every night. She had been diagnosed with primary nocturnal enuresis
and was treated unsuccessfully during the last few years. Laura had tried medications including imipramine and
desmopressin for this problem but achieved no long-term success. She had used an alarm system, but the alarm was
used inconsistently and awakened everyone in the house except Laura. In addition, Lauras parents had intermittently
restricted her fluids and taken her to the bathroom to urinate in the middle of the night. Laura had become
increasingly anxious because she was afraid that her younger siblings would tell her friends about her problem
or discover the pull-ups that were hidden in the house. She had more recently felt left out because she could not
participate in sleepovers with her friends. It was clear that Laura was motivated to resolve her problem.
During the initial meeting, Laura was taught the normal anatomy and physiology of the urinary tract system. The
discussion emphasized the mind-body connections, specifically how her brain instructs her bladder gate to stay shut
except when she sits on the toilet. Laura was encouraged to engage in self-hypnosis (review the discussion of her mindbody connections in relation to the urinary system) for 5 to 10 minutes just before bed each evening. She would imagine
or visualize in her thinking that it was the middle of the night and her bladder was full. Her bladder gate would send
the message to her brain, which would then decide whether to wake her body up to go to the bathroom or to send a
message back down to the bladder gate to stay shut for the remainder of the night. The daily practice would enable her
to reprogram her brain to keep her bladder gate shut at night just as she has it programmed to do during the day.
Laura was also encouraged to keep a daily calendar to monitor her dry beds. Laura was responsible for practicing her
self-hypnosis each night. After the initial meeting, Laura had all dry beds after 2 weeks of the self-regulation program,
and after 4 months, she had been on three sleepovers and her problem was considered only a part of her past.
Sleep Disorder
Children with sleep onset difficulties and parasomnias
can benefit greatly from learning relaxation strategies
and self-hypnosis. Coaching children to fall asleep with
a positive emotional attitude and to calm the nervous
system by self-hypnosis and positive self-talk can help
them achieve a restful, uninterrupted nights sleep. Diaphragmatic breathing and muscle relaxation strategies
Vignette
Davis, a bright 612-year-old boy, was having frequent nightmares. His dreams about snakes woke him up and made it
very difficult for him to fall back asleep. He had these nightmares two to three times each week. When Davis woke up
with a bad dream, he yelled out fearfully to his parents. His parents comforted him after the nightmares, but Davis was
too frightened to return to his room and slept the rest of the night in his parents bed. His younger sisters were woken
by the noise as well, and this was causing significant disruption to the whole familys ability to get a good nights sleep.
Davis parents followed a consistent bedtime routine, and he had a night-light in his room. He was doing well
academically and socially in his first-grade class, and he was healthy except for occasional colds. Davis was generally
a happy child. He had some anxiety in kindergarten, and his family had recently moved, but the anxiety quickly
resolved with individual counseling.
On Davis first visit, he appeared comfortable and readily discussed the fearful nightmares that he had involving snakes.
He admitted that the nightmares made it difficult for him to go to sleep by himself and expressed enthusiasm in learning
a way to make it easier for him to get to sleep alone after a bad dream. He was invited to imagine a favorite place in his
thinking. He readily engaged in favorite-place mental imagery and described being in the woods. He spontaneously
explained that he was wearing a blue shirt and green pants and playing alone. He was encouraged to notice how happy
and content he was while engaged in mental imagery (self-hypnosis). It was suggested that he practice the self-hypnosis
before going to sleep each night so that if he woke up in the middle of the night, he would be able to help himself get back
to sleep. Davis was then asked to talk about his nightmares and to create an ending to those dreams in which he would
win and feel good. Davis described how he had switch power and could shift his thinking to remove himself from the
place with the snakes and just be in the woods he preferred as a favorite, safe place. He easily followed through with this
suggestion and left the meeting feeling enabled and confident. Follow-up from his parents weeks later revealed that Davis
quickly learned to do the self-hypnosis on his own and reportedly used it effectively to help him fall asleep. Soon after the
initial visit, Davis no longer had frequent nightmares and no further problems with sleep.
917
Figure 91-3. A drawing by an 8-year-old boy describing the connections between his brain and his bladder.
Recurrent Pain
918
Vignette
Kara, a 1212-year-old, presented with chronic stomachaches and sore throats. Since her initial complaints 3 to 4 months
ago, she had three negative throat cultures, two courses of antibiotics, a normal complete blood cell count, a normal
urinalysis, and an upper gastrointestinal tract study that showed nonspecific findings. Kara was given a short course of
an H2 blocker, but her stomachaches continued. She had missed several days of school until arrangements were made
for her to spend time as needed with the school nurse instead of being sent home. Kara spent approximately one third
of her school day lying down in the nurses office. Kara was being seen by a psychologist, weekly, for anxiety thought to
be related to school. Further history revealed occasional headaches, no weight loss, and no vomiting or bowel problems;
findings on physical examination were normal.
Kara described two types of abdominal pain: a sharp constant, epigastric pain that she believed was a virus, and
a lower abdominal pain that occurred intermittently when she was nervous. On a scale of 0 (no pain) to 12 (worst
pain), Kara rated her stomachache as 9 on the initial visit (the worst that it had been was 11, and the best that it had
been was 7). Further laboratory testing determined no organic cause of the stomachaches. When asked how her life
would be different when she no longer had the pain, Kara tearfully replied that she wouldnt have to go to the school
nurse and that she would eat and feel better.
Kara was given examples of how she gets signals from her body when she has different feelings and the specific
physiologic changes of the body in response to being nervous or scared versus relaxed. Kara was encouraged to
hear that many children with problems like hers improve by learning how to use their mind to help their body. She
was given a calendar and asked to monitor her stomachaches. On the second visit, Kara was taught diaphragmatic
breathing and introduced to biofeedback. Electromyogram sensors were placed on her trapezius muscles bilaterally
to monitor muscle tension during breathing, while an abdominal stretch sensor (pneumography) was used to track
stomach movement with relaxation breath training. Through self-regulation training, she quickly learned to control
her breathing pattern and slow its rate. At the end of the first session, she had lowered her stomachache to a rating of
4, the lowest that it had been! She recognized that her stomachache bothered her less when she slowed her breathing
rate and relaxed. She agreed to practice the belly breathing at home each night before bed. Kara had five subsequent
biofeedback sessions in which she mastered the physiologic self-regulation of her peripheral temperature (an indirect
measure of sympathetic nervous system activity), muscle activity, and sweat gland response in a video game format.
After 5 weeks, Karas stomachaches had improved dramatically (down to a rating of 1 to 2), with only one visit to the
school nurse each day. At follow-up 8 weeks after the initial visit, Kara no longer had any somatic complaints and visited
the school nurse only to say hello.
Tic Disorder
Self-regulation strategies have been applied successfully to treat repetitive behaviors including habits, tics,
obsessive-compulsive disorder, and Tourette syndrome
(Kohen, 1995). A significant number of patients who
present to developmental-behavioral pediatricians
with mild to moderate tics improve with self-regulation
techniques alone. It is important to discuss with the patient the significant impact that anxiety and stress may
have on the repetitive behaviors, that is, that heightened autonomic nervous arousal tends to drive tic
behaviors. During treatment, self-awareness of behavior patterns and an enhanced sense of self-control are
emphasized.
Vignette
Nick, a 17-year-old boy with a chronic motor tic disorder, was referred for self-regulation training. Nick had recently
been on a psychotropic medication trial to help with the tics, but he did not respond optimally to the medication and
did not want to consider alternative medication options. Nick has had difficulties with motor tics since he was 10
years old. At that time, he developed facial tics, which seemed to come and go during the next several years but did
not impair him functionally. However, within the last 18 to 24 months, the tics had worsened considerably and had
become widespread (occurring in muscle groups all over his body), more frequent, and quite intense. He had been seen
several times by a pediatric neurologist, who had established the diagnosis of chronic motor tics and had prescribed a
medication trial.
Nick described tics of his wrists and ankles that were so repetitive and severe that his joints would become sore.
At the time of referral, he also noticed that his eye-blink and head-throw tics were interfering with his reading. Nick
reported that the tics occurred daily, and he felt that they were exacerbated by stress. Despite the severity of the tics,
Nick was well adjusted and had a very close and supportive group of friends at school. Nick was a well-rounded and
highly successful high-school student. Not only was he doing well academically and on the honor role, but also he was
a key player on the football team. In addition, Nick had a part-time job.
919
Nicks facial tics were evident throughout the first visit. Initially, the potential triggers of the tic flare-ups and the role
of stress and anxiety on the tic exacerbations were discussed. Nick was then coached through a progressive muscle
relaxation exercise and encouraged to let go of any muscle tension that he felt in his body. His tics stopped abruptly.
Nick spontaneously closed his eyes and was encouraged to enjoy his choice of pleasant mental imagery. Particular
attention was given to Nicks experience of a sense of warmth, heaviness, and comfort in his facial muscle groups.
Nick was excited and surprised at how his tics had stopped so suddenly while using the relaxation technique. The
session concluded with teaching Nick the basic diaphragmatic breathing techniques. Nick was encouraged to practice
the progressive muscle relaxation and breathing techniques at least twice a day for 5 minutes and also at times when
he felt stressed or anxious. He was also encouraged to self-monitor through the use of a symptom diary.
Nick returned to the clinic 2 weeks later. At this visit, further discussion focused on the connection between stress
(or increased sympathetic nervous system arousal) and the role that played in increased tic frequency and severity.
Nick was additionally introduced to the technique of heart rate variability biofeedback. His ability to achieve
balanced autonomic nervous activity was reflected in a symmetric, high-amplitude rolling wave pattern (also called
coherence) that he could visualize in real time on the biofeedback computer monitor. He was taught a technique
engaging in effortless breathing combined with positive emotional imagery as a way to shift from negative
emotional or stress states to a state of calm, positive balanceemotionally and physiologically. He was instructed
in home practice and provided written support information.
Nick returned as scheduled for a follow-up visit 1 month later. He reportedly used the relaxation techniques
regularly every day with great success, and he was excited to share the noticeable decrease in his motor tic activity
that he had experienced. He described the use of very vivid and colorful mental imagery as part of his practices.
The application of self-hypnosis was discussed in more explicit terms, and the progressive muscle relaxation and
diaphragmatic breathing strategies were reviewed. A peripheral temperature sensor was attached to Nicks left index
finger before the practice session. Nick once again demonstrated the ability to very quickly and deeply relax soon
after the practice began. He did an excellent job and raised his peripheral temperature 12 degrees during the 20minute relaxation session. Nick stated that he felt quite confident that he had good control over his tics by using the
self-regulation strategies that he had learned in real-life settings. In addition, he was provided with some temperaturesensitive adhesive dots that changed color as his hands got warmer. These were used during the day at home and
school as a way to monitor his relative stress level.
At a final follow-up visit 1 month later, Nick exhibited only mild facial tics at the beginning of the session. Since his
last visit, he had been chosen for one of the lead roles in his school play. Self-hypnosis strategies, including an imagined
rehearsal of his performance in the play, were reviewed. Once again, while actively involved in the relaxation techniques,
Nicks facial tics completely resolved. He stated that he had been using diaphragmatic breathing and progressive muscle
relaxation between scenes in the play when he was performing and had continued excellent symptom control.
Vignette
Brooke, an 8-year-old girl, was being managed by the developmental-behavioral pediatrician for treatment of her
attention-deficit/hyperactivity disorder symptoms. She also had a diagnosis of premature adrenarche and was being
observed every 3 months by the endocrinologist. Brookes inattention and impulsivity were well controlled with
stimulant medication, but Brooke was having significant anxiety and stress around the blood draws for her hormone
levels required once every 2 to 3 months to monitor her precocious puberty. Brookes grandmother, her primary
caregiver, and the technicians have had to hold Brooke down for each venipuncture.
First, the discomfort of having to be held down and to have a needle stick was acknowledged and discussed. Then,
Brooke was asked if she would like to learn some skills so that the blood draws would not bother her so much. She
was told how she gets signals from her body when she has different feelings and that there are specific physiologic
changes of the body in response to being nervous or scared versus relaxed. Brooke was interested to hear that many
children have been helped to go through difficult procedures by learning how to use their mind to help their body.
Brooke agreed that her grandmother would be her coach for her daily practices and during her venipunctures.
(Continued)
920
Brooke was advised to go to her favorite place in her thinking. She responded that she was playing in the park and
spontaneously answered questions describing the sun shining, her clothes, and the people around her. Although her
eyes were open and she was moving around, Brooke was deeply engaged in visual imagery. She was complimented
several times on her ability and encouraged to notice how relaxed she felt. After 5 to 10 minutes, the practice was
over. Brooke and her grandmother were then shown the technique of diaphragmatic breathing. It was suggested that
practicing these two self-regulation skills daily and rehearsing the blood draw would make venipunctures much less
bothersome in the future.
Follow-up was obtained by telephone 2 weeks later when Brookes grandmother called for a medication refill.
According to Brookes grandmother, they continued to practice the self-regulation skills, and the subsequent blood
draw was much easier. Brooke was very proud of herself!
Vignette
Four-year-old Evie is sitting at the edge of the
examination table blowing intently on the bubble wand
her mother is holding in front of her mouth. At the
same time, the nurse is supporting Evies arm while
the pediatrician gives her two immunizations in each
deltoid muscle. Evie is excited and a little sore when
it is over, but she is empowered with her ability to
cooperate with the process.
THE FUTURE
Growing literature and successful clinical experience
support the utility and cost-efficacy of the self-regulation
strategies described in this chapter and underscore
the increasing importance of these techniques in the
armamentarium of the developmental-behavioral pediatrician and other pediatric health professionals. They
can be useful in both inpatient and outpatient clinical
settings. It is also clear that parents are increasingly interested in nonpharmacologic treatment modalities for
their children with biobehavioral problems as concerns
grow about the potential serious side effects of conventional medications. Biofeedback, hypnosis, and the
other mind-body techniques offer children the option
acquiring skills to replace pills (Wickramasekera,
1988). Once children learn self-regulation strategies,
they commonly apply the techniques to other challenging situations that they encounter and continue to use
these techniques throughout their lives. One would hope
to see these techniques become part of all child health
care providers curricula, including medical and nursing
schools, child-life programs, and pediatric residency
programs.
Pioneering research in pediatric self-regulation supports the ability of children to voluntarily modulate certain aspects of immune system function (Olness et al,
1989). Research in this area documents childrens ability to eradicate warts, to change levels of salivary immunoglobulins, and to influence the activity of certain
white blood cell types (Olness, 1990). Researchers are
exploring the role of relaxation, directed mental imagery, and related mind-body strategies in children with
921
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Ader R, Cohen N, Felten D: Psychoneuroimmunology: Interactions
between the nervous system and the immune system. Lancet
345:99-103, 1995.
Anbar R: Self hypnosis for the treatment of functional abdominal pain
in childhood. Clin Pediatr 40:447-451, 2001.
Andrasik F, Schwartz M: Behavioral assessment and treatment of pediatric headache. Behav Modif 30:93-113, 2006.
Astin JA, Shapiro SL, Eisenberg DM, Forys KL: Mind-body medicine:
State of the science, implications for practice. J Am Board Fam
Pract 16:131-147, 2003.
Attanasio V, Andrasik F, Burke E, et al: Clinical issues in utilizing
biofeedback with children. Clin Biofeedback Health 8:134-141,
1985.
Bakal D: Minding the Body: Clinical Uses of Somatic Awareness. New
York, Guilford, 1999, pp 1-43.
Banerjee S, Srivastav A, Palan B: Hypnosis and self-hypnosis in the
management of nocturnal enuresis: A comparative study with
imipramine therapy. Am J Clin Hypnosis 36:113-119, 1993.
Butler LD, Symons BK, Henderson SL, et al: Hypnosis reduces distress
and duration of an invasive medical procedure for children. Pediatrics 115:77-85, 2006.
Calipel S, Lucas-Polomeni MM, Wodey E, Ecoffey C: Premedication
in children: Hypnosis versus midazolam. Pediatr Anesth 15:275281, 2005.
Cohen S, Herbert T: Health psychology: Psychological factors and
physical disease from the perspective of human psychoneuroimmunology. Annu Rev Psychol 47:113-142, 1996.
Culbert T, Kajander R: Be the Boss of Your Stress. Minneapolis, Freespirit Publishing, 2007.
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Culbert T, Rearney J, Kohen D: Cyberphysiologic strategies for children: The clinical hypnosis, biofeedback interface. Int J Clin Exp
Hypnosis 442:17-97, 1994.
Culbert T, Kajander R, Reaney J: Biofeedback with Children and
Adolescents: Clinical Observations and Patient Perspectives. J Dev
Behav Pediatr 17:342-350, 1996.
Glazener CM, Evans JH, Peto RE: Alarm interventions for nocturnal
enuresis in children. Cochrane Database Syst Rev 2: CD002911,
2003.
Hewson-Bower B, Drummon P: Secretory immunoglobulin A increases
during relaxation in children with and without recurrent upper
respiratory infection. J Dev Behav Pediatr 17:311-316, 1996.
Hidderley M, Holt M: A pilot randomized trial assessing the effects
of autogenic training in early stage cancer patients in relation to
psychological status and immune system responses. Oncol Nurs
8:61-65, 2004.
Innes KE, Bourguignon C, Brooke AG: Risk indices associated with
the insulin resistance syndrome, cardiovascular disease, and possible protection with yoga: A systematic review. J Am Board Fam
Pract 18:491-519, 2005.
Jacobson E: The origins and development of progressive relaxation.
J Behav Ther Exp Psychiatry 8:119-123, 1977.
Jain SC, Rai L, Valecha A, et al: Effect of yoga training on exercise
tolerance in adolescents with childhood asthma. J Asthma 28:437442, 1991.
Kuttner L, Chambers CT, Hardial J, et al: A randomized trial of yoga
for adolescents with irritable bowel syndrome. Pain Res Manag
11:217-223, 2006.
Kohen DP: Ericksonian communication and hypnotic strategies in
the management of tics and Tourette syndrome in children and
adolescents. In Lankton S, Zeig I (eds): Difficult Contexts for
Therapy. New York, Brunner/Mazel, 1995, pp 116-138.
Kuttner L: A Child in Pain, How to Help, What to Do. Vancouver,
Hartley and Marks, 1996.
Kuttner L, Chambers CT, Hardial J, et al: A randomized trial of yoga
for adolescents with irritable bowel syndrome. Pain Res Manag
11:217-223, 2006.
Lazar SW, Bush G, Gollub RL, et al: Functional brain mapping of the
relaxation response and meditation. Neuroreport 11:1581-1585,
2000.
Lee L, Olness K: Effects of self-induced mental imagery on autonomic reactivity in children. J Dev Behav Pediatr 17:323-327,
1996.
Lengacher CA, Bennett M, Gonzalez L, et al: Psychoneuroimmunology
and immune system link for stress, depression, health behaviors,
and breast cancer. Alternative Health Practitioner 4:95-108, 1998.
Lengacher CA, Bennett M, Gonzalez L, et al: The effects of relaxation guided imagery on natural killer (NK) cell and cytokine IL-2
induced NK cytotoxicity in breast cancer patients. Breast Cancer
Res Treat 100:345, 2006.
Linden W: Autogenic Training: A Clinical Guide. New York,
Guilford, 1990.
Liossi C, White P, Hatira P: Randomized clinical trial of local anesthetic
versus combination of local anesthetic with self-hypnosis in the
management of pediatric procedure-related pain. Health Psychol
25:307-315, 2006.
Olness K: The use of self-hypnosis in the treatment of childhood nocturnal enuresis: A report on forty patients. Clin Pediatr 14:273279, 1975.
Olness K: Pediatric psychoneuroimmunology: Hypnosis as a mediator.
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Olness K: Hypnosis and biofeedback with children and adolescents;
clinical, research, and educational aspects. Introduction. J Dev
Behav Pediatr 17:299, 1996.
Olness K, Culbert T, Uden D: Self-regulation of salivary immunoglobulin A by children. Pediatrics 83:66-71, 1989.
Olness K, Kohen DP: Hypnosis and Hypnotherapy with Children,
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Olness K, Libbey P: Unrecognized biologic basis for behavioral symptoms in children referred for hypnotherapy. Am J Clin Hypnosis
30:1-8, 1987.
Olness K, MacDonald J, Uden D: Comparison of self-hypnosis and
propranolol in the treatment of juvenile migraine. Pediatrics
79:593-597, 1987.
Selye H: The stress syndrome. AJN Am J Nurs 65:97-99, 1965.
Streeter C, Jensen J, Perlmutter R, et al: Yoga Asana sessions increase
brain GABA levels: A pilot study. J Altern Complement Med
13:419-426, 2007.
Wester W, Sugarman L: Therapeutic Hypnosis with Children and
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Weydert J, Shapiro DE, Acra SA, et al: Evaluation of guided imagery
as treatment for recurrent abdominal pain in children: A randomized controlled trial. BMC Pediatr 6:26, 2006.
Wickramasekera I: Clinical Behavioral Medicine: Some Concepts and
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Wolsko PM, Eisenberg DM, Davis RB, Phillips RS: Use of mind-body
medical therapies: Results of a national survey. J Gen Intern Med
19:43-50, 2004.
92
EARLY INTERVENTION
SERVICES
924
925
926
Figure 92-1. An EI educator leaves a home visit with twins and their
parents.
927
Always ask questions. You are the one who knows your child the
best.
Dont wait for people to call you, call them.
Learn as much as you can about the ability and disability of your
child.
Be an advocate and ask about what resources are available.
Link up early with other parents who have already gone through
this experience.
No one really knows how your child will progress, so be patient.
Ask for documentation. The EI program had all this documenta
tion that said 3 weeks ago he couldnt do this and now hes
doing it. They helped us see all the small milestones.
Professionals need to know that they are not just dealing with an
illness or delay, they are dealing with the whole child and the
whole family.
Understand that things dont have to be cheerful all the time.
Dont make too many exceptions for your child. At the same
time, keep in mind her or his limitations and special needs.
Remember to take some breaks for your own well-being.
This is not the end of your life; it may even be the beginning.
928
Guralnick (2005b) has divided evaluations of EI programs and services into two phases based roughly on
whether they assessed EI before or after the passage
of the original legislation, PL 99-457, in 1986. Firstgeneration studies, defined as those conducted primarily
before PL 99-457, assessed whether EI was effective in
terms of whether child functioning improved as a result
of the intervention. Consistent evidence has been found
for the positive although modest impact of EI on children with disabilities, including those at environmental
risk, those at biologic risk, children with autism, and
children with Down syndrome (Guralnick, 2005a).
In addition to addressing the question of the overall
effectiveness of EI, one prominent analysis selected the
31 highest quality evaluations of EI for children with
biologic concerns to assess whether effectiveness varied
for children with different characteristics and which selected program characteristics had a greater impact on
child outcomes (Shonkoff and Hauser-Cram, 1987).
Greater cognitive gains were found for children characterized as developmentally delayed in comparison
to children with intellectual disabilities. Children with
orthopedic disabilities experienced the smallest gains
in cognition. In terms of severity, infants identified as
mildly impaired experienced better outcomes if they entered an EI program before they were 6 months of age
versus after 6months of age, whereas age at entry had
no influence on the outcomes for children with more
severe disabilities. Two program characteristics were
also found to be associated with greater child effects.
Programs with well-defined curriculums versus those
with less well defined curriculums and programs that
had high levels of parent involvement versus those with
little parent involvement were more effective. Although
the studies selected for this analysis were the best available for children with biologic disabilities, there was not
enough data to assess effectiveness in terms of outcomes
929
930
SUMMARY
EI services, authorized under IDEA, are now part of the
service network in every state. These services, although
modest in intensity, are designed to help coordinate resources for infants and toddlers with disabilities and their
families as well as to provide some direct services, such
as speech and language therapy, occupational therapy,
and physical therapy. The services aim to be individualized and family focused as indicated by the development
of an IFSP for each family that has been created by both
providers and family members. Pediatricians and other
health care providers serve a critical role in identifying
infants and toddlers who warrant such services as well
as in providing information to parents and, when appropriate, to EI service providers about a childs health
care needs in relation to EI services. By learning about
available EI services and making direct connections with
local EI providers, the pediatrician can provide an essential link between health care needs and optimal child
and family functioning.
REFERENCES
American Academy of Pediatrics: The pediatricians role in development and implementation of an individual education plan
(IEP) and/or an Individual Family Service Plan (IFSP). Pediatrics
104:124-127, 1999.
Anderson LM, Shinn C, Fullilove MT, et al: The effectiveness of early
childhood development programs: A systematic review. Am J Prev
Med 24:32-46, 2003.
Bailey DB, Aytch LS, Odom SL, et al: Early intervention as we know it.
Ment Retard Developmental Disabilities 5:11-20, 1999.
Bailey DB, Hebbeler KJ, Spiker D, et al: Thirty-six-month outcomes
for families of children who have disabilities and participated in
early intervention. Pediatrics 116:1346-1352, 2005.
Bronfenbrenner U: Ecology of the family as a context for human
development: Research perspectives. Dev Psychol 22:723-742,
1986.
Buck DM, Cox AW, Shannon P, et al: Building collaboration among
physicians and other early intervention providers: Practices that
work. Infants Young Children 13:11-20, 2001.
931
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Wall SM, Taylor NE, Liebow H, et al: Early Head Start and access
to early intervention services: A qualitative investigation. Topics
Early Childhood Special Educ 25:218-231, 2005.
Warfield ME, Hauser-Cram P: Monitoring and evaluation in early intervention programs. In Guralnick MJ (ed): The Developmental Systems Approach to Early Intervention. Baltimore, Paul H. Brookes,
2005, pp 351-372.
Warfield ME, Hauser-Cram P, Krauss MW, et al: The effect of early
intervention services on maternal well-being. Early Educ Dev
11:499-517, 2000.
Weiss, CH: Evaluation, 2nd ed. Upper Saddle River, NJ, Prentice Hall,
1998.
West J, Denton K, Germino-Hausken E: Americas kindergartener:
Findings from the early childhood longitudinal study: Kindergarten class of 1998-99. Washington, DC, U.S. Department of Education, National Center for Education, 2000.
Yeargin-Allsopp M, Rice C, Karapurkan T, et al: Prevalence of autism
in a U.S. metropolitan area. JAMA 289:49-55, 2003.
93
Vignettes
Mateo
Mateo Gonzalez, a 9-year-old Hispanic boy, was born in the United States of immigrant parents. He
acquired Spanish quite typically at about the same age as his siblings did, but he did not start to
learn English formally until he began school. Although Mateos mother was never concerned about
his development as a young child, she is concerned now about his difficulties learning to read and
write in school. Mrs. Gonzalez does not speak English and cannot read or write in either English or
Spanish, but she feels that Mateo, who has repeated second grade twice, is having more difficulty in
school than his siblings had (see Fig. 93-1). Even Mateos 6-year-old brother seems to do better than
Mateo at reading and writing. At first, Mateos teachers thought his problems were related to learning
English as a second language, but recently they have expressed concern that he may have a learning
disability. Mateos physical and neurologic examination findings have been normal. Following the
recommendations of Mateos pediatrician, Mrs. Gonzalez requested a multidisciplinary evaluation
through the school system. She also learned about her sons rights to an appropriate education and
was encouraged to be an advocate for him within the school system with the help of her pediatrician.
Mateo had a multidisciplinary evaluation at school in both Spanish and English that included an
IQ test in which he scored 70. Mrs. Gonzalez, who attended an individualized educational program
(IEP) meeting for Mateo with an interpreter provided by the school district, helped to write Mateos
goals and his educational plan. Mateo started to receive specialized instruction and speech-language
therapy in his third-grade classroom in accordance with his IEP. Mrs. Gonzalez now works with Mateo
on his reading and writing at home as she also is now learning to speak, read, and write English
through courses offered by a local organization.
Ashley
Ashley Smith is an 8-year-old girl who was recently diagnosed with attention-deficit/hyperactivity
disorder (ADHD), inattentive type, by her pediatrician. She has considerable difficulty maintaining
attention to schoolwork and other similar tasks that require concentration, resulting often in
incomplete or poor work. Her overall school performance is marginally satisfactory, although
she sometimes achieves higher grades. After the diagnosis, the pediatrician prescribed 18 mg
of methylphenidate extended release. Ashley did not have any side effects from this stimulant
medication; her appetite, blood pressure, and sleeping patterns remained normal, and she did not
demonstrate any abnormal movements or headaches. However, her symptoms did not respond to
the medication, and her behavior at school got worse.
Ashley was then seen by a developmental-behavioral pediatrician who had her parents and
third grade teacher complete the Vanderbilt surveys (Leslie et al, 2004; Wolraich et al, 1998). After her
developmental-behavioral evaluation, Ashleys diagnosis of ADHD inattentive type was confirmed
and her dose of methylphenidate extended
release
was increased to 36 mg. Through his conversation
with Mrs. Smith, the developmental-behavioral pediatrician learned that after her mother shared the
diagnosis with the teacher, Ashley was seated in the last row of the classroom with other children who
apparently have the same condition. The other children, who were fidgety and unable to sit still most
of the time, distracted Ashley (see Fig. 93-2). The developmental-behavioral pediatricians report was
shared with Ashleys parents, her pediatrician, and her school. In this report, accommodations for Ashley
were requested from the school, including preferential seating next to the teacher and reduction in
length of her class and homework assignments. The use of checklists for Ashley to remember her chores
both at home and in school and the use of a log at school to help her remember what she needed to do
for homework were also recommended. The developmental-behavioral pediatrician provided
(Continued)
933
934
Mrs. Smith with information about Ashleys educational rights based on IDEA and Section 504. Acouple
of weeks later, Ashley saw her developmental-behavioral pediatrician on a follow-up visit. At this time,
she was doing much better both at home and in school. The school implemented the recommended
educational accommodations for Ashley. The absence of side effects from her methylphenidate
continues, and her Vanderbilt scores continue to support her progress.
Since 1975, these essential features of special education and related services in the schools have remained
unchanged, despite many critical modifications in response to identified needs (National Dissemination
Center for Children with Disabilities, n.d.). Among
the most dramatic modifications was the provision
of early childhood special education for children between the ages of 3 and 5 years in 1986. In that same
year, states were offered financial incentives for developing systems for serving infants and toddlers. Other
changes have included strengthening the role and supports for parents; increasing sensitivity to children of
ethnic, racial, and linguistic diversity; and adding new
services and disability categories (see Figure 93-3 for
details). Mateos mother, for example, was able to
receive the services of a Spanish-speaking interpreter
at his IEP meeting because of the modifications in
the law.
During the years, the inclusion of children in learning environments with their age-matched peers has
been strengthened. In the early legislation, the amount
of time spent in regular classrooms had to be noted on
the IEP; today, IEPs must provide justification if children are removed from classrooms with typical children, and the IEP notes the amount of time in special
settings.
1973
1975
1983
PL 94-142
Special
Education
Legislation
Education of All
Handicapped Children
Act (EHA)
Mandated a free
appropriate public
education in the least
restrictive environment
to school-aged children
with disabilities
Established IEPs
Instituted procedural
safeguards
1986
PL 99-457
Education of All
Handicapped Children
Act (EHA)
Mandated services for
preschoolers with
disabilities
Established the program
for infants and toddlers with
disabilities, encouraging
states to establish a
comprehensive, state-wide,
interagency service delivery
system
1990
1992
PL 101-476
Individuals with
Disabilities Education
Act (IDEA)
Added autism and
traumatic brain injury to
the list of disabilities
covered. Added assistive
technology to the list of
services:
Added social work and
rehabilitation counseling
as related services
Mandated transition
services
PL 98-199
Education of All
Handicapped Children
Act (EHA)
Provided funding for
research and
demonstration projects
for infants, toddlers, and
preschoolers with
disabilities and for
transition to adulthood
Established Parent
Information Centers
Other
Relevant
Legislation
Section 504
The Rehabilitation Act
Prohibits discrimination against people with
disabilities in programs receiving federal funds
Ensures educational rights of children with
disabilities and health conditions
Requires modifications and accommodations
935
1997
PL 105-17
Individuals with
Disabilities Education
Act (IDEA)
Strengthened role of
parents in the special
education process
Gave increased attention
to racial, ethnic, and
linguistic diversity
Ensured access of
children with disabilities to
the general curriculum
PL 102-119
2002
2004
PL 108-446
Individuals with
Disabilities
Education
Improvement Act
(IDEA 204)
Aligns Special
Education with NCLB
Reductions in
paperwork and
meeting attendance
Modifications to
evaluations and reevaluations, IEP
development,
postsecondary
transition; due process
and procedural
safeguards
Permits early
intervening
Clarifies
responsibilities to
special populations
(e.g., homeless,
private school
attendees)
Figure 93-3. Time line of changes in special education and other relevant legislation. (Data from National Dissemination Center for Children
with Disabilities, n.d.; office of special Education programs, n.d.; Committee on Education and the workforce, 2005; U.S. Department of
Education, 2003; office of civil Rights, 2005)
936
Table 93-1. Comparison of IDEA and Section 504 of the Rehabilitation Act
IDEA
Section 504
Overview
Eligibility
Funding
Evaluation
Free appropriate
public education
Placement
Procedural
safeguards
and due process
Data from Council for Exceptional Children, 2002; Henderson, 2007; Rosenfeld, 2006.
937
938
Implementation of Services
It is expected that the IEP will be carried out as written.
A childs annual progress on the IEP goals must be
measured in accordance with the measurement parameters identified in the IEP. Schools must provide parents
with regular reports of a childs progress at least as often
as parents receive reports for children without disabilities in the school.
Screening
The role of the pediatrician is to recognize possible disabilities and to identify the source of the problem. When
general pediatricians who fulfill the role of primary care
providers see children whose parents raise concerns
about learning problems and poor school performance,
the pediatrician may address the concerns directly and
find ways to help the family and the child. However,
parents do not always recognize the learning difficulties of their children or, more importantly, the home or
health factors that may underlie a childs learning problems. A problem may come to light only after developmental screening results are analyzed in context with the
review of systems and the social history. In either case,
screening tools such as the Vanderbilt surveys (Leslie
et al, 2004; Wolraich etal, 1998), which you may remember were completed by Ashleys parents and teacher
to assist in her diagnosis, are available to assist the pediatrician in identifying the specific problem. In addition, the role of the general pediatrician or clinician is
also to rule out other causes that may affect learning
and school performance, such as poor sleeping habits,
including snoring; hearing and vision difficulties; problems with relationships at home or school; and changes
in life circumstances (e.g., moving or divorce).
Referral
Once the living habits and the environment of the
child have been ruled out as a source of the problem,
the pediatrician or clinician can discuss referral to the
939
Table 93-2. Contributions of Educational Professionals and Pediatricians to the Early Intervention, Special
Education, and Section 504 Processes
Child find and referral
Plan development
Plan implementation
Educational Professionals
Pediatricians
IDEA, Individuals with Disabilities Education Act; IEP, individualized educational program; IFSP, individual family service plan.
also useful to hand parents materials that provide information about the special education process, including
contact numbers within local school districts and sample letters requesting an evaluation or special accommodations. This kind of information is often available
with minimal or no charge from advocacy organizations
for specific disabilities, professional organizations, and
local and state educational agencies. For example, the
American Academy of Pediatrics, as part of its ADHD
tool kit, provides clinicians with a sample letter that can
be handed to the parents as a template to request special
accommodations from the school.
Advocacy
The role of the health care professional not only should
be to inform and to provide written information to families but also should include being a companion to them
in the special education process that they are initiating
with the school. It is understandable that the schedules
of clinicians and pediatricians at present are busier than
ever. However, the presence of the pediatrician or the
clinician either in person or by phone at an IEP meeting, for example, can mean a lot to the family and the
educators and often enhances the personal and professional experience of the clinician. Being a companion to
the family and playing the part of an active member of
a special education team, the clinician not only serves
as advocate but also helps the parents to become better
advocates for their own children.
940
Inclusion
Inclusion refers to educating children with and without
disabilities in the same educational settings. The term
inclusion means that children with disabilities have
aright to be educated with their nondisabled peers in ageappropriate classrooms in their neighborhood schools.
Mainstreaming was the word used before inclusion.
Although the terms are similar and may sometimes be
used interchangeably, mainstreaming as applied historically implied that children needed to demonstrate
academic and social readiness before being placed in the
mainstream. Today, children are included in the same
classrooms as their typical peers for all or part of the
school day without having to earn it, as you may recall was the case for both Ashley and Mateo. The amount
of time that children are included in regular classrooms
will vary, depending on their IEPs. For example, some
may be included only for so called specials, such as
art and music classes, or activities with minimum academic focus, such as recess, homeroom, and lunch. Others may leave the regular classroom for a resource room
for special instruction in just one or two subjects. When
children are in regular educational settings for the entire
school day, they are considered to be fully included,
and all support services prescribed on the IEP are then
received in the regular classroom. In 2002, 96% of all
special education students were educated in regular
school buildings, with nearly 50% spending at least 79%
of their day inside the regular classroom; the percentages
spending this amount of time in regular classrooms has
increased steadily since 1993 (U.S. Department of Education, 2006).
Empirical evidence demonstrates that inclusion is
beneficial to children with disabilities and also their
peers, school programs, and teachers (Hunt et al,
2003). Benefits, which have been identified for children
with mild disabilities as well as for those with severe
disabilities, include increased social interaction and
friendships; learning of new cognitive, social, sensory,
and motor behaviors; improvement in standardized test
scores; higher quality IEPs; and better preparation for
adulthood. Other research has yielded more equivocal
outcomes for children with disabilities in which improvements in inclusive settings have been no better or
only marginally better than those in segregated settings.
Outcomes for children without disabilities have included greater understanding and acceptance of human
differences; improved sensitivity, empathy, and caring
for others; and enhanced self-esteem. There is also some
evidence that low-achieving students who do not qualify for special education benefit from the specialized instructional strategies used in the classroom. Ultimately,
inclusion in schools is viewed as benefiting society
generally because as children grow up understanding,
knowing, and befriending children with diverse abilities,
society as a whole will be more likely to create physical
and social environments within communities that are
designed universally for all.
Challenges to inclusion fall into three categories
(Kochhar et al, 2000): knowledge, organizational,
and attitudinal. Although many teachers, both regular and special, feel that they have not had sufficient
training for inclusion, state and local educational agencies often provide staff development to assist teachers
in addressing the needs of inclusion, and under current law, teacher education programs are gearing up
to ensure that all teachers are highly qualified. Organizational barriers refer to the manner in which schools
are structured, staffed, and managed. Most agree that
successful inclusion requires changes in traditional professional roles. No longer is one teacher responsible for
a classroom of children; rather, the principal teacher
in a classroom either may share the teaching responsibilities with a special educator (i.e., co-teaching) or
may receive consultative services within a collaborative context from the special educator or such related
service providers as speech-language pathologists, occupational therapists, and physical therapists. Lack of
appropriate training and the aforementioned organizational modifications often lead to attitudinal barriers
on the part of teachers and administrators. However,
teachers who embrace a more collaborative approach
often find themselves shifting their attitudes when they
find the experience more rewarding than the traditional
classroom.
Collaborative Teaming
Children in special education generally receive services
from multiple service providers, just as Mateo did
in the vignette; minimally, this is a regular educator
anda special educator, and often it also includes various therapists, requiring a level of coordination and
collaboration generally atypical of traditional educational service delivery. There are a variety of models
of how regular and special educators or related service
personnel work together (McWilliam, 1995). The most
traditional model is for the child to be pulled out of
the regular classroom for special services in resource
rooms or other isolated locations. Sometimes other
children either with or without disabilities might accompany the child, providing opportunities for social
interaction as part of the special session. Other options
maintain the special services within the classroom environment, with the special educator or related service
provider delivering the services one-on-one or in small
groups somewhere within the classroom. Special service providers may also work within the regular curriculum by teaching a group of children that includes
one or more children with disabilities (e.g., a speechlanguage pathologist conducting reading lessons for
a group that includes several children who may have
language problems) or by assisting one or more children who need support or assistance during the routine schedule of lessons (e.g., an occupational therapist
who assists individual children during their daily writing period). Specialists may also consult with teachers
without providing services directly (e.g., a special education teacher who guides a regular education teacher
in dealing with a childs challenging behaviors by observing, offering recommendations, and monitoring the
childs progress). Co-teaching is another model that
might be used in which a regular educator and a special educator are both responsible for all the children
in a classroom. Such arrangements, like many of the
others, require the personnel involved to understand
and respect each others contributions, to work out job
responsibilities clearly, and to communicate and plan
together regularly.
941
disability
and emotional disturbance in
general are more likely to be placed in segregated settings
and African American children are overrepresented in
these categories (Serwatka et al, 1995).
The disproportionate representation of minorities in
special education is clearly a complex problem in which
there are no immediate or easy solutions. In addition
to the parental involvement already mentioned, IDEA
builds into the special education process some safeguards. These include nondiscriminatory, multifaceted
assessment, testing in the dominant language, notifications to parents in their native language, and provision
of an interpreter for meetings. The National Center for
Culturally Responsive Educational Systems (http://www.
nccrest.org/), a project funded by the U.S. Department of
Educations Special Educations Programs, proposes to
address the problem by developing culturally responsive
educational systems (Klingner et al, 2005). The Center
offers a range of trainings and products appropriate for
parents and professionals to this end.
One aspect of the remedy proposed by the National
Center for Culturally Responsive Educational Systems
is the development of culturally responsive teachers and
school administrators; others have referred to this as cultural or cross-cultural competence. Such efforts seekto
improve the understanding that all teachers have of their
own culture, sensitize them to how their own culture
affects their worldview and actions, and teach them to
approach children and their families in a responsive or
942
Evidence-Based Practices
As in the health care field, the importance of basing
practice on scientifically derived evidence and research
has gained prominence, largely because No Child Left
Behind requires teachers to use scientifically proven practices in their classrooms. However, understanding what
type of scientific information is acceptable as evidence
is a complex question when it is applied to education
generally but even more so when it is applied to special
education (Odom et al, 2005). Some have suggested that
a single methodology, namely, randomized clinical trials, should be the gold standard for education, whereas
others argue for multiple methodologies. The variability in special education populations and the contexts
in which children with disabilities are educated make
randomized clinical trials very difficult. Four basic research designs have been identified for special education:
(1) experimental group, (2) correlational, (3) single subject, and (4) qualitative. These multiple methodologies
have worked historically in identifying effective special
education practices. Presently, professional organizations play a pivotal role in identifying evidence-based
practices in special education by proposing guidelines
and writing compendiums of effective practices.
Early Intervening
Early intervening, which should not be confused with
early intervention, refers to providing additional academic and behavioral support to children in general
education who have not been identified for special
education services. The intent of these services is to allow
school staff to give children specialized assistance with
research-based strategies as soon as they start to fall behind to prevent school failure. With the passage of IDEA
2004, up to 15% of a local educational agencys IDEA
funds may be used for early intervening services for
children in kindergarten through grade12, with heavy
emphasis on the primary grades. School districts that
have a significant overrepresentation of minorities in special education must use the maximum amount allowed
for this purpose. Had this provision been in place when
Mateo was in the earlier grades, he would probably have
received help with his reading and writing much sooner.
Because many states have current definitions of learning disabilities that require a discrepancy between intelligence and achievement, children with learning difficulties
are often not identified for special education services until
they experience school failure, usually not until the second
or third grade. In addition to creating circumstances for
children that predispose them to behavioral, self-esteem,
and peer relationship problems, this discrepancy model
of learning disabilities is considered to be at least partially responsible for the overrepresentation of children
SUMMARY
Both Mateo and Ashley, whose stories were told at
the beginning of this chapter, realized better outcomes because of the support provided by physicians.
Although traditionally education and health care have
been viewed as separate and distinct entities, it is imperative to acknowledge, as with Mateo and Ashley, their
emerging relationship in the delivery of services to children and youth with disabilities. Physicians can play an
important role in supporting children with disabilities by
providing information to parents about school services,
communicating with school personnel when necessary,
and recommending appropriate accommodations and
modifications. The recent shift in the legislative foundation of special education from process to outcomes potentially enhances the role that medical professionals can
play in bridging health care and education. Sensitivity to
parental concerns about the developmental and school
performance of their children, knowledge of available
school services as well as educational trends and issues,
and willingness to expediently create this bridge for parents are invaluable in maximizing the positive outcomes
of children with disabilities.
REFERENCES
Coleman MR, Buysse V, Neitzel J: Recognition and Response: An
Early Intervening System for Young Children At-Risk for Learning
Disabilities. 2006. Available at: http://www.fpg.unc.edu/products/.
Accessed September 9, 2006.
Committee on Children with Disabilities: The pediatricians role
in the development and implementation of an Individualized Education Plan (IEP) and/or an Individual Family Service
Plan (IFSP). Pediatrics 104:124127, 1999. Available at: http://
pediatrics.aappublications.org/cgi/content/full/l04/1/124.
Accessed February 2, 2007.
Committee on Education and the Workforce: Individuals with
Disabilities Education Act (IDEA): Guide to Frequently Asked Questions. 2005. Available at: http://www.house.gov/ed_work force/
issues/109th/education/idea/ideafaq.pdf#search=%22IDEA%20
guide%20freguently%22. Accessed September 7, 2006.
943
94
All parents and health care professionals strive to assist children in reaching their highest potentialto understand them intimately, to encourage them toward
mastery, and to comfort them in difficult situations and
conditions. We seek to nurture resilient children who
possess self-respect and strategies to cope with lifes
challenges. The arts therapies (art therapy, dance/movement therapy, poetry, drama, and music therapy) stand
among an arsenal of treatments that help children to prevail regardless of emotional or physical circumstances.
From the first lullaby, the first soothing, rocking parents embrace, a baby is receptive to sound and movement. With each annual happy birthday and holiday
song, the social ritual incorporating elements of the arts
is experienced and becomes a familiar presence. Art is
a human invariant; people in all times and in all places
sing, draw, and dance (Hodges, 1996).
945
a specific area of inquiry, for instance, eligibility for music therapy in an individual education plan or appraisal
of self-image.
The therapist chooses the proper instrument from
among many published models in the fields literature.
A comprehensive assessment yields a complete profile of the child, reporting on sensory, developmental,
receptive, and expressive communication and cognitive,
motor, and social-emotional abilities. Domain-specific
or diagnosis-specific assessments investigate a sole functional area, such as communication (Wigram, 2000), or
diagnosis, such as depression (Silver, 2002).
What most arts therapy assessments have in common is that they bypass language yet nonetheless receive an abundance of information about the essence
of the childs self in nonverbal (painting, music making, movement) forms. This is precisely why these modalities are able to successfully draw the child in. The
clinician expertly translates the meaning of the childs
process and product into traditional educational and
psychological terminology. Team members, especially
parents, have remarked that the novel information
sparks a more positive view of the child patient as
arts receptive.
Gardner (1999) put forth the theory of multiple intelligences. Named among these special aptitudes are
musical intelligence, visual-spatial intelligence, and
body-kinesthetic intelligence, which relate directly to
music, art, and dance/movement therapy. Childrens
strengths in these areas are more readily identified
through creative arts therapy assessments than by other
means.
Each creative art therapy offers a wealth of assessment potential. Each is capable of gently investigating
multiple aspects and contributing unique information to
the teams complete knowledge of the child. His or her
arts responsivity is a prominent factor in planning how
to best treat the educational, emotional, physical, and
spiritual whole.
In Early Life
The arts therapies can make effective contributions at
any stage during the years of childhood. Parents and
other caregivers included in much pediatric creative arts
therapy work acquire skills for lifelong productive interaction with their children.
Dance/movement therapy conducts programs in
which expectant mothers learn techniques that promote
healthy bonding. Sensitivity to child movement communication begins in utero, when mothers are taught
through touch attunement. Working with the movement repertoire of the fetus, the mother can learn to accommodate it and become watchful for and responsive
to physical cues both before and after birth (Loman,
1994). Dance/movement therapy increases sensory and
nonverbal skills of new mothers as they interact with
their young infants. Using touch, body shaping, and
other techniques, they become proficient in observing
interpersonal physical action and reaction and discerning the meaning of their infants body language.
The recent discovery by neuroscientists of mirror
neurons substantiates the fact that there is a physiologic
946
basis for intimate movement and emotive synchronicity. Studies are revealing that the identical sets
of neurons can be activated in an individual who
is simply witnessing another person performing
a movement as the one actually engaged in the action or the expression of some emotion or behavior
(Berrol, 2006).
Application of music for preterm infants is used to
assist neonates with feeding skills, in turn leading to
weight gain and timely hospital discharge. Positive benefits for infants in the neonatal intensive care unit have
been reported; those who listened to lullabies lost less
weight and were released from isolettes, the neonatal intensive care unit, and the hospital sooner (Caine, 1991).
Standley (2003), designer of the Pacifier Activated Lullaby, found that participating infants who used nonnutritive sucking to activate recorded music increased
nipple feeding competency.
Early intervention, a legally mandated program of
treatment for children aged 0 to 3 years who have special
needs, is the perfect place to introduce the arts therapies.
Music therapists are particularly adept at engaging the
young childs attention and tuning it into external expression and active developmental learning.
Vignette
Mirembe is a beautiful 9-month-old girl who was born
full term with no complications. She developed well
until 6 months of age, when she had a massive seizure
episode that left her legally blind with continuing
seizures and a severe developmental setback in all
areas. She could no longer roll, raise her head, or make
sound. With music therapy, Mirembe is beginning to
localize to sound, pick up her head, reach for chimes,
and relearn how to smile. Her grandmother, who
came from Uganda to help with her care, joins in the
singing, clapping for Mirembe as she achieves each
little milestone. The soft strumming of the guitar and
the clinicians voice singing, Mirembe, play your
own song, encourage Mirembe to reconnect with her
caregivers and continue to work so hard to regain the
skills she has lost.
Vignette
Kelly, a personable adolescent with developmental
disabilities, could speak a few intelligible words after
prompts. She loves music. Communication erupts in
a music context. In individual music therapy (MT),
Kelly added to her vocabulary by learning new
approximations that reflect her own milieu. When
carried on melody, new words flowed in improvised
songs about boys, dances, and fun activities. When MT
commenced, she could not verbally produce a name
for either of her parents. In song, she worked on using
the new words Ma and Da; then she progressed to
singing an approximation of her first short sentence: I
love you. Intelligibility improved; over time, the music
was faded and Kelly could combine both her parents
names and the sentence. After 3 years of MT, Kelly
proudly made a tape recording for her parents on
which she said, I love you Ma. I love you Da.
Group Therapy
The aims of all group work are in general agreement
for members to gain self-awareness, to understand and
relate to others, to contribute to the whole, and to develop a sense of mutuality and cohesion.
The art therapies work well in dyads, trios, and other
manageable configurations with a reasonable therapistto-child ratio. Members can create a whole product such
as a mural, dance, or music ensemble while simultaneously achieving group and individual goals. Sharing fun
and process in creative arts therapies can be a source of
community, friendship, and belonging for children who
have an otherwise limited social network. The art itself
becomes the childs ally.
947
C
Figure 94-1. A-C, Girls who have Rett syndrome are so motivated by music that they can often separate their hands to contact instruments.
(Courtesy of Kim Abrano, 2006.)
This is often the need of children who have experienced sexual abuse. Being in control of choosing projects and media and determining whether to keep or to
destroy art products address these needs. Often the art
object itself or style of image discloses helplessness, secrecy, low self-esteem, self-blame, or unexpectedly precocious sexual symbology of the child who made them.
Art therapy has set precedent by being qualified in
the state of New Jersey as expert witness in child sexual
abuse litigation. Art therapy was recognized as a mental health profession and proven to have a scientific or
other credible basis. The testifying clinician qualified as
an expert and her opinion was valid by virtue of her
knowledge, skill, experience, training, and education
(Cohen-Liebman, 1994).
Drawings made during the forensic interview process
give children an indirect way to depict descriptions and
feelings they may have difficulty comprehending. They
stimulate the exploration of both manifest and latent
material and are admissible as judiciary aids (CohenLiebman, 1999).
Successful treatment through the arts therapies also
gives children tools for applying self-soothing behaviors.
The child is supported and assisted in identifying preferred, optimally comforting self-care habits and learns
to independently apply them when needed. The clinician
948
Vignette
Seven-year-old Mateo, diagnosed with an anxiety
disorder, experiences panic attacks. With his music
therapist, he composed a song titled You Can Still
be Safe, which names his stressors (peers teasing,
Mom leaving, school tests). The song also identifies
his coping strategies (think of your room, get warm
and cozy, tell your favorite story in your head). An
evening talk with Mom followed by listening to a tape
recording of the song empowers proactivity in Mateo
and assures him of his competency in self-protection.
ACCESSING SERVICES
The creative arts therapies are accessed through traditional means of funding for children who have special
needs. The primary source is their home community if the
creative arts therapy is included in the individual education plan (IEP). To get an art therapy on the IEP, the process begins with referral. The parent, physician, or other
treater who works with the child is entitled to contact the
towns director of special education and request an assessment by an art, dance/movement, or music therapist.
The school administration then secures the assessment at
public expense, and the resulting information is considered by team members, including parents. Some directors of special education are unfamiliar with creative arts
therapies and require a legal as well as clinical rationale
for adding a new discipline to the treatment team.
The legal basis for inclusion of creative arts therapies in a childs IEP is stated in the reauthorization of
the Individuals with Disabilities Education Act (IDEA),
now titled the Individuals with Disabilities Education
Improvement Act of 2004 (PL 108-446). The creative
arts therapies are not directly named in IDEA, but they
are considered to be related services. When the team determines any related service to be necessary, it is legally
mandated to become part of the education plan. Arts
therapies have been established as related services in
communities across the United States.
Most creative arts therapists, licensed at the masters degree level, qualify as mental health counselors
or psychotherapists in the state where they practice.
Massachusetts, New York, Pennsylvania, Texas, and
Wisconsin currently feature licensure for practitioners
who meet particular criteria. Moreover, these therapies
may be reimbursable by health maintenance organizations. In 2005, a well-established health insurer, Blue
Cross/Blue Shield of Massachusetts, through a credentialing vendor, WholeHealth Networks Incorporated,
began offering music therapy to providers within their
affinity program.
Many short-term arts therapies are grant funded
through community service agencies, hospital outreach
programs, and college campus schools. Some client
groups who need creative arts therapy the most, such as
children in shelters, are funded in this manner. Families
can also contract privately, as many therapists in private
practice work in clinics or provide home or school visits. Each professional organization has a reimbursement
specialist who will guide consumers toward obtaining
funding.
RESOURCES
The professional organizations maintain high standards
for their discipline by establishing the code of ethics
and standards of best practice, providing information
on education and training requirements, and producing
publications and conferences. On request, they supply
referrals from their annual membership directory according to location and clinical specialty.
In addition to these associations, there may be an
independent credentialing organization, for example,
the Certification Board for Music Therapists or the Art
Therapy Credentials Board, which have a complete international list of certified practitioners (Table 94-1).
SUMMARY
Evidence-based art therapy, dance/movement therapy,
and music therapy as well as drama and poetry therapy have inherent advantages in pediatric assessment
and treatment (Table 94-2). Distinctive because they
employ natural childhood behavior and bypass verbal
language, these disciplines externalize feelings and expression through relationships in the creative process.
Practitioners usually meet criteria as psychotherapists.
Applied early in life, dance/movement therapy can assist
expectant and new mothers to attune to their infants
movement communication. Music therapy has benefited
preterm infants in the neonatal intensive care unit by
decreasing weight loss and increasing nipple feeding
competency. It is also notably effective in early intervention programs with children who have Down syndrome or Williams syndrome and with girls who have
Rett syndrome. Art therapy not only aids in treatment of
children who have been sexually abused but is diagnostically used during the forensic interview; drawings are
admissible as evidence in litigation. All the arts therapies
offer techniques that can be taught to the child, parents,
and caregivers for soothing use at home. It is desirable
Dance/Movement Therapy
American Dance Therapy Association
2000 Century Plaza, Suite 108
10632 Little Patuxent Parkway
410-997-4040
Columbia, MD 21044
http://www.adta.org
Music Therapy
American Music Therapy Association
8455 Colesville Road, Suite 1000
Silver Spring, MD 20910
301-589-3300
http://www.musictherapy.org
Certification Board for Music Therapists
506 East Lancaster Avenue, Suite 102
Downingtown, PA 19335
800-765-2268
http://www.cbmt.org
Poetry Therapy
National Association for Poetry Therapy
Center for Education, Training and Holistic Approaches, Inc.
777 E. Atlantic Avenue, #243
Delray Beach, FL 33483
866-844-NAPT
www.poetrytherapy.org
Drama Therapy
National Association for Drama Therapy
15 Post Side Lane
Pittsford, NY 14534
585-381-5618
www.nadt.org
949
for an art therapy to be named on the childs IEP because it is then funded by the school district and the clinician becomes a treatment team member. The national
associations can assist consumers in locating therapists
and surveying funding sources.
REFERENCES
Berrol CF: Neuroscience meets dance/movement therapy: Mirror neurons, the therapeutic process and empathy. The Arts in Psychotherapy 33:302-315, 2006.
Caine J: The effects of music on the selected stress behaviors, weight,
caloric and formula intake, and length of hospital stay of premature and low birth weight neonates in a newborn intensive care
unit. J Music Therapy 18:180-192, 1991.
Cohen-Liebman MS: The arts therapist as expert witness in sexual
abuse litigation. Art Therapy 11:260-265, 1994.
Cohen-Liebman MS: Draw and tell: Drawings within the context
of child sexual abuse investigations. The Arts in Psychotherapy
26:185-194, 1999.
Gardner H: Intelligence Reframed: Multiple Intelligences for the
Twenty First Century. New York, Basic Books, 1999.
Hodges DA (ed): Handbook of Music Psychology. San Antonio, TX,
The University of San Antonio, 1996.
Hunter K: The Rett Syndrome Handbook, 2nd ed. Clinton, MD,
International Rett Syndrome Association, 2007.
Loman S: Attuning to the fetus and young child: Approaches from
dance/movement therapy. Zero to Three August/September:20-26,
1994.
Silver R: Three Art Assessments. New York, Brunner-Routledge,
2002.
Standley J: The effects of music-reinforced non-nutritive sucking on
feeding rate of premature infants. J Pediatr Nurs 18:169-173,
2003.
Wigram T: A method of music therapy assessment for the diagnosis of
autism and communication disorders in children. Music Therapy
Perspectives 18:13-22, 2000.
95
ALTERNATIVE THERAPIES
Thomas D. Challman
Vignette
Tyler was diagnosed with autism at 30 months of age when he presented for the evaluation of
significant impairments in receptive and expressive communication, limited social reciprocity, and a
variety of repetitive behaviors. Intensive interventions, including applied behavior analysis strategies,
were initiated. Through other parents they met in a local support group, Tylers parents heard about
various vitamins and supplements that are supposed to help children with autism. They also read
on the Internet that some people believe exposure to certain heavy metals causes autism and that
chelation therapy would help their son by removing these toxins from his body. They want to know
if they should be pursuing any of these treatments. How should you counsel Tylers parents?
H. L. Mencken made the observation that there is always a well-known solution to every human problem:
neat, plausible, and wrong (Mencken, 1920, p 158).
It is not uncommon for people facing medical problems
that defy easy treatment to use unproved therapies that
fall outside the boundary of conventional medicine.
Nonstandard therapy use is common in children with
developmental disorders, as it is in many areas of health
care in which standard treatment approaches are not
dramatically effective or curative. During the past few
decades, a diverse group of unconventional therapies
arising from disparate traditions and theories have come
to be viewed under the conceptual umbrella of complementary and alternative medicine (CAM).
Parents and caregivers of children with developmental and behavioral disorders may be inclined to pursue
almost any treatment that they feel presents some hope
of benefit for their children. They are also certain to
encounter questionable therapies that are at best ineffective and at worst can cause either direct or indirect
harm. It can be difficult for even savvy caregivers to differentiate among therapies with an acceptable evidence
base, those that are potentially plausible but untested,
and those that are purely pseudoscientific. Advancements in information technology and the ease with
which dubious theories and practices can spread by the
Internet have compounded this problem. Caregivers
need the appropriate tools to help them sort through
and interpret the myriad potential treatments promoted
by various individuals and groups. Health care providers who treat children with developmental and behavioral disorders must recognize that their patients often
This chapter is adapted and expanded with permission from earlier works by
the same author (Challman et al, 2007; Challman, 2008), published by Paul H.
Brookes Publishing Co., Inc.
950
951
adults in the United States have been derived from population-based data (Davis and Darden, 2003). Children
with chronic medical conditions do use CAM at higher
rates than the general population does. Increased rates
of CAM use have been reported in children with various
developmental disabilities, including autism, attentiondeficit/hyperactivity disorder (ADHD), cerebral palsy,
Down syndrome, and spina bifida. Higher levels of parental education as well as parental CAM use have been
consistently identified in multiple studies as factors that
predict pediatric CAM use.
952
Mind-Body Medicine
Techniques such as meditation, biofeedback, hypnosis,
and prayer have all been used to try to treat disease or
to improve physical and mental functioning. Electroencephalographic biofeedback has been promoted pre
dominantly for the treatment of children with ADHD.
In this technique, children try to learn to use brain electrical activity to control a video gamelike interface,
with the hope that this will improve attention in other
settings. Although some early studies showed apparent effectiveness of this technique, criticisms have been
raised about certain methodologic deficiencies. Electroencephalographic biofeedback remains under investigation, but it is not currently a recommended treatment
approach for children with ADHD. Studies investigating relaxation training or other meditation techniques in
children with ADHD, cerebral palsy, or intellectual disability have largely been equivocal or limited by methodologic issues, although short-term improvements in
certain behavioral measures have been observed in some
studies. Hypnosis has been proposed as a treatment modality for certain behavioral or learning disorders but has
not been validated as an effective therapeutic approach.
Energy Medicine
Energy therapies are based on the theory that energy
fields (biofields) are present around all living organisms and that a disruption in these fields is a cause of
disease. Manipulation of these fields by use of various
techniques restores balance and therefore health. Ancient practices such as acupuncture, Qigong, and Reiki
as well as practices of more recent origin (such as therapeutic touch) are based in these beliefs. Although there
is limited evidence that acupuncture is effective in the
treatment of certain pain syndromes in adults, studies of
acupuncture in children with developmental disorders
have typically been uncontrolled or have had ill-defined
or unreliable outcome measures. Therapeutic touch,
which involves a practitioners purportedly manipulating the biofield by performing smoothing movements
above the body, is meant to balance the nonphysical life
energy and restore the body to a state of good health.
There is no experimental evidence supporting the existence of biofields that can be manually detected and manipulated, and any measurable benefit of these therapies
is likely to be derived from various expectancy effects.
Therapeutic touch and other forms of energy medicine
are good examples of pseudoscientific therapies, largely
because of their significant lack of connection to other
areas of scientific knowledge.
953
954
955
Do proponents of the treatment selectively seek evidence that confirms the effectiveness of the therapy
and ignore contradictory data? This confirmation
bias is a common feature of pseudoscientific claims.
Science is a double-edged swordwe must be as
willing to reject treatments and theories in the face
of appropriate evidence as we are to accept them.
Do proponents suggest that it is acceptable to assume
the treatment is effective until proven otherwise? As
shown by the example of secretin, widespread use
of a therapy before the development of evidence of
effectiveness does occur and represents an unnatural reversal in the normal direction of the scientific
process.
Does the treatment appear to be disconnected from
knowledge in other scientific disciplines? Is the treatment based on new forces or principles that are inconsistent with our current understanding of the natural
world? Therapies that are based on such unverified
forces (therapeutic touch) have extremely low prima
facie plausibility; a high level of evidence should be
demanded before such claims are believed.
Is the treatment promoted primarily through the use
of anecdotes and testimonials as opposed to a body
of evidence from controlled trials? The high rate of
placebo response in trials of autism therapies shows
that we should not make broad extrapolations
from the observation of a single childs response to
a treatment. Therapies that are supported only by
anecdote should be viewed with skepticism.
Is the treatment described in scientific-sounding jargon
that on closer analysis is very imprecise or meaning
less? Such language is commonly used to hide the
fact that a true scientific basis for the therapy is
lacking.
Are claims made that the treatment is effective for
a wide range of conditions? A single intervention
can rarely if ever effectively treat diverse conditions
with disparate pathophysiologic mechanisms.
Are claims made that the treatment can be viewed
only as part of a larger package of interventions and
practices? This can be a ploy used to obstruct the
scientific analysis of a claim or to explain away evidence of ineffectiveness.
SUMMARY
Nonstandard therapies are commonly used in children
with various chronic health conditions, particularly in
those disorders in which conventional treatment approaches are not dramatically effective. Currently, there
is no accepted role for virtually any CAM therapy in
developmental-behavioral pediatrics. Health care providers and families must recognize that various expectancy effects can contribute to the appearance of CAM
treatment efficacy, and all proposed therapies must be
held to high standards of scientific evidence before being
accepted as worthwhile. Parents of children with developmental and behavioral disorders should be encouraged
to evaluate evidence critically and learn to recognize the
characteristic features that indicate a particular theory
or therapy may be pseudoscientific.
956
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American Academy of Pediatrics, Committee on Children with Disabilities: Counseling families who choose complementary and alternative medicine for their child with chronic illness or disability
[published erratum appears in Pediatrics 108:507, 2001]. Pediatrics 107:598-601, 2001a.
American Academy of Pediatrics, Committee on Children with Disabilities: The pediatricians role in the diagnosis and management of autistic spectrum disorder in children. Pediatrics 107:12211226, 2001b.
Angell M, Kassirer JP: Alternative medicinethe risks of untested and
unregulated remedies. N Engl J Med 339:839-841, 1998.
Barnes PM, Powell-Griner E, McFann K, Nahin RL: Complementary
and alternative medicine use among adults: United States, 2002.
Advance Data 343:1-19, 2004.
Brown MJ, Willis T, Omalu B, Leiker R: Deaths resulting from hypocalcemia after administration of edetate disodium: 2003-2005.
Pediatrics 118:e534-536, 2006.
Challman TD: Complementary and alternative medicine in autism
promises kept? In Shapiro BK, Accardo PJ (eds): Autism Frontiers.
Baltimore, Brookes, 2008, pp 177-190.
Challman TD, Voigt RG, Myers SM: Nonstandard therapies. In
Accardo PJ (ed): Capute and Accardos Neurodevelopmental Disabilities in Infancy and Childhood, 3rd ed. Baltimore,
Brookes, 2007, pp 721-741.
Cohen MH, Kemper KJ: Complementary therapies in pediatrics:
A legal perspective. Pediatrics 115:774-780, 2005.
Davis MP, Darden PM: Use of complementary and alternative medicine by children in the United States. Arch Pediatr Adolesc Med
157:393-396, 2003.
Eisenberg DM, Davis RB, Ettner SL, et al: Trends in alternative medicine use in the United States, 1990-1997: Results of a follow-up
national survey. JAMA 280:1569-1575, 1998.
Gold C, Wigram T, Elefant C: Music therapy for autistic spectrum
disorder. Cochrane Database Syst Rev 2: CD004381, 2006.
Hrobjartsson A, Gotzsche PC: Placebo interventions for all clinical
conditions. Cochrane Database Syst Rev 3: CD003974, 2004.
Jan JE, Freeman RD: Melatonin therapy for circadian rhythm sleep disorders in children with multiple disabilities: What have we learned
in the last decade? Dev Med Child Neurol 46:776-782, 2004.
Knivsberg AM, Reichelt KL, Hoien T, Nodland M: A randomised,
controlled study of dietary intervention in autistic syndromes.
Nutr Neurosci 5:251-261, 2002.
Levy SE, Hyman SL: Novel treatments for autistic spectrum disorders.
Ment Retard Dev Disabil Res Rev 11:131-142, 2005.
Lewin GA, Schachter HM, Yuen D, et al: Effects of omega-3 fatty
acids on child and maternal health. Evid Rep Technol Assess
(Summ) 118:1-11, 2005.
Lilienfeld SO, Lynn SJ, Lohr JM: (eds): Science and Pseudoscience in
Clinical Psychology. New York, Guilford, 2003.
Malinowski B: Magic, Science, and Religion: And Other Essays.
Garden City, NY, Doubleday Anchor Books, 1954.
McDonagh M, Carson S, Ash J: Hyperbaric Oxygen Therapy for
Brain Injury, Cerebral Palsy, and Stroke. Evidence Report/Technology Assessment No. 85. Rockville, MD, Agency for Healthcare
Research and Quality, 2003. AHRQ publication 04-E003.
Mencken HL: Prejudices: Second Series. New York, Knopf, 1920.
Millward C, Ferriter M, Calver S, Connell-Jones G: Gluten- and casein-free diets for autistic spectrum disorder. Cochrane Database
Syst Rev 2: CD003498, 2006.
National Center for Complementary and Alternative Medicine: Expanding horizons of healthcare: Five year strategic plan 20012005. Washington, DC, U.S. Department of Health and Human
Services, 2000.
Nickel R: Controversial therapies for young children with developmental disabilities. Infants Young Child 8:29-40, 1996.
Nye C, Brice A: Combined vitamin B6magnesium treatment in autism
spectrum disorder. Cochrane Database Syst Rev 4: CD003497,
2006.
Sandler A: Placebo effects in developmental disabilities: Implications for research and practice. Ment Retard Dev Disabil Res Rev
11:164-170, 2005.
Sandler AD, Sutton KA, DeWeese J, et al: Lack of benefit of a single
dose of synthetic human secretin in the treatment of autism and
pervasive developmental disorder. N Engl J Med 341:1801-1806,
1999.
Schaaf RC, Miller LJ: Occupational therapy using a sensory integrative approach for children with developmental disabilities. Ment
Retard Dev Disabil Res Rev 11:143-148, 2005.
Schachter HM, Kourad K, Merali Z, et al: Effects of omega-3 fatty
acids on mental health. Evid Rep Technol Assess (Summ) 116:
1-11, 2005.
Sinha Y, Silove N, Wheeler D, Williams K: Auditory integration
training and other sound therapies for autism spectrum disorders:
A systematic review. Arch Dis Child 91:1018-1022, 2006.
Sturmey P: Secretin is an ineffective treatment for pervasive developmental disabilities: A review of 15 double-blind randomized controlled trials. Res Dev Disabil 26:87-97, 2005.
Tang JL, Zhan SY, Ernst E: Review of randomised controlled trials of
traditional Chinese medicine. BMJ 319:160-161, 1999.
Vickers A, Ohlsson A, Lacy JB, Horsley A: Massage for promoting
growth and development of preterm and/or low birth-weight infants. Cochrane Database Syst Rev 2: CD000390, 2004.
96
TRANSITION TO
ADULTHOOD FOR YOUTH
WITH DEVELOPMENTAL
DISABILITIES
Melissa Thingvoll and Stephen Sulkes
Vignette
Elmer, a 19-year-old man with athetotic cerebral palsy and mild intellectual disability, is brought to
the pediatrician by his parents because he is increasingly having emotional outbursts at home with
his family. They became extremely concerned when he pushed his sister through a first-floor window.
Elmer had left his self-contained school program a year before and has been working in a supported
employment setting, making cardboard boxes. His health has been stable, with no seizures or other
chronic medical problems and no sleep or appetite problems. He uses no medications, tobacco,
alcohol, or other drugs. He is ambulatory but with fine and gross motor coordination limitations
related to his athetosis.
As part of the evaluation, the pediatrician asks the parents to leave the room so he can speak in
private with Elmer. Once confidentiality is ensured, the youth reveals that his closest relationships are
with staff members at his workplace and family friends without disabilities. He socializes only with his
family. He describes having strong attractions for several female workplace staff. He obtained their
phone numbers and called them often and then was disappointed when they didnt reciprocate his
affections. He becomes agitated in describing these frustrations and confirms that his outbursts at
home had been in relation to them. Elmer also has sexually related frustrations. When asked about
masturbation, he blushed deeply and said, You cant do that, you make a mess! He explains that on
one occasion, when masturbating in bed, he had experienced a bowel movement at the moment of
orgasm, and he assumed that this would happen every time in the future. On physical examination, he
is a slim young man with several days growth of beard. His speech is dysarthric, and he has difficulty
with saliva overflow.
How can the pediatrician assist Elmer and his family with his outbursts and also support his
transition to adulthood?
Transition from childhood to adulthood can be exciting, confusing, and stressful for all adolescents and their
families, but this process is often more difficult for adolescents and young adults with developmental disabilities and special health care needs. The adolescent not
only must deal with the increase in responsibility and
the expectation for autonomy that come with this rite
of passage, but he or she must do so in the context of a
physical or cognitive disability. This move into the adult
community occurs across many different areas, as the
adolescent moves from the pediatric to adult-oriented
health care system, from school to workplace, and from
home to community living.
958
959
Contributing Cause
Response
Same as above
Lack of resource knowledge
Limited training of adult-focused providers
Same as above
Same as above
Same as above
Same as above
Same as above
Governmental regulations
Bureaucratic impediments
Same as above
Individual Factors
Communication barriers
Disability-specific needs
Same as above
Limited reimbursements
960
SEXUALITY
Like all adolescents, teens with disabilities want to
marry, have children, and experience healthy and fulfilling adult sex lives. However, sexuality issues are often
overlooked or ignored for them (see Chapter 43). People
with disabilities are often viewed as childlike or asexual
or, alternatively, as inappropriate or uncontrollably
hypersexual, leading to misconceptions or misinformation (Murphy and Elias, 2006). Sexuality is often inappropriately considered inaccessible for individuals with
physical disabilities.
For many youths with developmental and physical disabilities, barriers exist to discussion of the ageappropriate topics listed in Table 96-2. Physicians may
need to spend a majority of health visits addressing the
more complex functional or medical issues facing the person with a disability, leaving little time to explore issues
of sexuality. Many special education curricula, unlike
those of general education programs, do not include formal sexual education as required components (Stinson
et al, 2002). When sex education is provided, the specific
learning characteristics of the adolescent may not be considered, resulting in poor comprehension of the material
and information presented. Material must be explained
concretely and specifically, without medicalization of
information. Teachers may be embarrassed by having to
EDUCATION
In contrast to health care, procedures for planning for
educational transition are well established, even if inconsistently applied. Chapter 93 outlines the Individuals
with Disabilities Education Act (IDEA), which specifically identifies procedures for transition planning as students move out of school-based services at adulthood.
Recent amendments to IDEA specifically pertain to the
post-graduation transition, requiring involvement of the
student in the general education curriculum, if possible;
cooperative decision making and support among the
student, parents, and school staff; and preparation of
the student with a disability for employment and other
posthigh school outcomes. IDEA requires transition
planning to begin by the age of 14 years, and individualized education program (IEP) documents must include
statements of transition service needs from this age forward, creating an individualized high-school curriculum
to help the student prepare for transition and achieve
goals after graduation. By the age of 16 years, a statement of transition service needs is added, encompassing
instructional services, community experiences, vocational evaluation, employment, and other adult-living
activities that the student will need to ensure success on
entering the adult world (NCSET 1, n.d.).
Transition planning works best with a team approach. The most important member of the team is the
961
Table 96-3. College Participation Education Models for Students with Developmental Disabilities
(Stodden and Whelley, 2004)
Model
Learning Focus
Staffing
Limitation
Substantially separate
Special education
Mixed
Individualized support
962
VOCATIONAL TRANSITION
The school-to-work transition should be smooth because
IDEA requires that vocational planning and prevocational training be built into all individualized educational planning. In fact, such planning is highly variable.
Adolescents with more severe intellectual and physical
disabilities may have school programs that focus well
on self-care goals and provide some rudimentary prevocational skills but often do not prepare individuals
for specific vocational tasks. Inclusive programs that
emphasize academics for individuals with more functional skills may give short shrift to practical vocational
independence.
Vocational rehabilitation is a state/federal program
designed to empower individuals with disabilities to
achieve employment consistent with their strengths, resources, and personal goals (Dowdy, 1996). The federal
Rehabilitation Services Administration works with state
vocational rehabilitation agencies to provide direct assistance to individuals with disabilities through local
offices. Vocational rehabilitation counselors elicit information about the persons work history, education,
training, strengths, interests, and goals to help the individual develop an individualized written rehabilitation
program similar to a school-based IEP in its content
and objectives. Vocational rehabilitation services may
include counseling and work-related placement services,
vocational and training services, transportation, assistive
technology, and supported employment services. Collaboration between special education and vocational education personnel during high school can provide students
with disabilities with comprehensive curricula that will
help them achieve their adult goals (Stodden and Whelley,
2004). The Maternal and Child Health Bureaus Healthy
and Ready to Work program has developed tools that incorporate input from school, health, family, workplace,
and the individual to ensure appropriate vocational
transitions (Maternal and Child Health Bureau, 2007;
www.hrtw.org/tools/check.html). Other laws that affect
the workplace for people with disabilities include the
ADA and Section 504 of the federal Rehabilitation Act;
both ensure accommodation and prevent discrimination
(U.S. Department of Justice, 2005). Each state has its
own system of vocational rehabilitation evaluation and
placement agencies, listed by state at https://secure.ssa.
gov/apps10/oesp/providers.nsf/bystate. A broad array
of state-run agencies, publicly licensed nonprofit providers, and private employers exist in each community. Schools often work closely with such employers to
provide their staffing needs, and public councils often
WHERE TO LIVE?
As young adults with developmental disabilities move
toward graduation from IDEA-supported educational
programs and into employment, questions arise for families about residential options. With the past decades
experience of community inclusion and noninstitutional
care, families have become used to having their children
with developmental disabilities continue to live at home
with community help from health, educational, social
services, and other support systems. Out-of-home residential placement for a child with developmental disabilities has become sufficiently stigmatized that when
it occurs, it may carry an implication of parental inadequacy or of physical or behavioral challenge of such
severity that parents should not be expected to be able
to manage the childs care. Whereas in many cultures
it is common for many generations to continue to live
together throughout life, it is the widely held norm in
industrialized nations for young adults to move into
independent living as they pass into adulthood. In an
effort to provide normal experiences and expectations for youth with developmental disabilities, discussion of plans to move to a new living environment and
the supports needed to carry this out should be part of
transition planning starting in the early teen years.
Although many individuals with developmental disabilities continue to live with their families (Braddock
et al, 2001), a spectrum of residential options exists, with
much variation among government entities, because
most such facilities in the United States are either managed or licensed by state governments. Large residential
institutions are fading from the scene, being replaced
by community residences, small intermediate care facilities, supervised apartments, and other individualized
living alternatives, extending even to home ownership.
In some communities, groups of families work with
public or private nonprofit agencies to establish staffed
residences for their young adult members. Factors to
consider in determining a persons level of residential
independence include complexity of health and associated support needs, self-care skills, transportation skills,
mobility, and other factors. Adult service coordinators
help to individualize placement recommendations.
963
Individual Capabilities
and Needs
Legal Formalities
developmental disabilities as the 18th birthday approaches. Protection and advocacy agencies for individuals with developmental disabilities exist in each
state and territory under federal law. They can ensure
free legal representation for individuals with developmental disabilities and their families to help negotiate
the legal processes around guardianship and other
self-determination issues. Particularly with regard to
guardianship proceedings, it is desirable for the individual to have personal legal representation to ensure
that his or her rights are being considered separately
from those of even the most well meaning families.
A list of federally funded protection and advocacy
agencies in each state for additional support can be
found at http://www.acf.hhs.gov/programs/add/states/
pas.html. Variations on legally appointed representatives for individuals with developmental disabilities are
described in Table 96-4.
Each state defines guardianship differently, but usually
court-appointed guardians can make all official decisions
on behalf of individuals. Ideal guardians make decisions
honoring individuals wishes based on good communication; but legally, appointment of a guardian eliminates
guarantees of self-determination. Families may establish
trusts or other financial instruments as financial supports for their members with developmental limitations,
assigning contingent trustees to serve if family members
cannot fulfill these responsibilities as the person with disability matures. The familys philosophy and the goal of
optimizing the individuals self-determination should be
made clear to all. Families should seek legal and financial
counsel about laws and procedures in their state, given
their needs, resources, and desires.
vignette OUTCOME
The pediatrician decides to handle some of the issues at
the current visit and to then help the family plan a transition to an adult health care provider. The pediatrician
counsels Elmer in private that masturbation can take
place on the toilet, or he can evacuate his bowels before
masturbating. He also discusses drooling with Elmer
and gains Elmers consent to discuss this issue with
his parents. The pediatrician deems it inappropriate to
964
SUMMARY
Transition-age youth with developmental disabilities
face many challenges as they move from organized
and supportive systems in place in school and pediatric health care systems to those focused on adults.
Although developmental disabilities services offer residential, advocacy, and self-determination supports,
community-based vocational services and particularly
health services are less coordinated. A thoughtfully articulated plan for transition, incorporating all relevant
systems and a documented transition packet outlining
functional strengths and needs, health concerns, and
self-direction abilities, should be developed well before
the young person reaches legal adulthood at the age of
18 years or leaves school at the age of 22 years. Professionals with relationships with the young person should
frankly explore understanding of sexuality and personal
relationship issues to ensure safety and optimal social
adjustment.
REFERENCES
A consensus statement on health care transitions for young adults with
special health care needs. Pediatrics 110(pt 2):1304-1306, 2002.
Betz CL, Redcay G: Lessons learned from providing transition services
to adolescents with special health care needs. Issues Compr Pediatr
Nurs 25:129-149, 2002.
Blum RW: Introduction. Improving transition for adolescents with
special health care needs from pediatric to adult-centered health
care. Pediatrics 110(pt 2):1301-1303, 2002.
Part XI
97
LEGAL, ADMINISTRATIVE,
AND ETHICAL ISSUES
LEGAL ISSUES
966
Duty of Confidentiality
A health care provider commonly holds definite opinions about a patients course of treatment. However,
although the physician can inform, advise, and even
strongly recommend, the ultimate decision belongs to
the patient. In the large majority of cases, a patient
younger than 18 years lacks the legal capacity to consent
to his or her own medical treatment. Thus, decisions
about medical treatment will be made by the parent or
guardian, who has a legal right to consent to, withdraw,
or compel medical care on behalf of the child (Parham
v. J. R., 442 U.S. 584 [1979]).
Confidentiality Exceptions
Legal Competence
Guardianship
Emancipated Minors
A minor who has been legally emancipated from parental control (pursuant to a judicial decree or statutory
exception for marriage or military enlistment) may direct the course of his or her medical treatment without
parental control or participation. When a minor obtains
a judicial declaration of independence from the parents,
a parent has no right to consent to or otherwise participate in treatment decisions. The parent typically has no
financial obligation to pay for treatment.
967
diagnosis;
risks and benefits of the recommended tests and
treatment; and
risks and benefits of alternatives, including risks
and benefits of no treatment.
Despite some variability between jurisdictions, information is deemed material if a reasonable patient
would consider it to be a significant factor in reaching
a decision.
Failure to obtain a parents informed consent before
treating a child can expose the physician to civil liability
for battery (basically, intentionally touching anothers
person without consent) or, more commonly, negligent
failure to obtain informed consent. Negligence constitutes a failure to exercise reasonable care that causes
harm to the patient. In the context of informed consent,
the patient would basically claim that she or he did not
receive adequate information about the risks and benefits of the treatment and its alternatives and would have
chosen a different course of treatment had the information been communicated. A more detailed discussion
of negligence liability appears later with regard to the
physicians duty of reasonable care.
The doctrine of informed consent is primarily controlled by state common law (i.e., nonstatutory, judicially made case law). In recent years, however, some
states have begun to legislate the content of information
to be communicated about certain treatment decisions.
Practice guidelines also may address what information
needs to be disclosed. Even if practice guidelines are not
legally binding, they may serve as evidence of what reasonable care would require in a given circumstance.
For an adult patient, a decision may be legally informed even if it is patently unreasonable as long as
(1) the patient was legally competent and adequately
informed of material information and (2) the decision
itself poses no risk of serious harm to third parties.
Thus, an adult may refuse a low-risk, lifesaving procedure because the only one harmed would be the patient.
968
969
970
State Intervention
Medical Neglect
SUMMARY
Too often, the health care professions view the law as
an annoyance at best and, at worst, a barrier to the
ability to practice ones profession with excellence and
e ffectiveness. Treating a child with developmentalbehavioral disabilities can be complicated enough; having to attend to so many legal obligations and concerns
may seem completely overwhelming. What this chapter
has tried to accomplish, however, is to show how a basic understanding of the law can enable the provider to
fulfill the direct obligations to the patient in a way that
minimizes liability exposure. Most important, it has
endeavored to empower the provider, who genuinely
wants to help the child whose needs are so enormously
complex, to advocate to those gatekeepers who would
otherwise deny life-changing if not lifesaving services.
Toward this end, this discussion has tried to make clear
that the law as well as lawyers can be the providers
allies in obtaining the care that these children need and
so clearly deserve.
971
REFERENCES
Brandow MA: Spoonful of Sugar Wont Help This Medicine Go
Down: Psychotropic Drugs for Abused and Neglected Children,
72 S Cal L Rev 1151 (1999).
Komoroski AL: Stimulant Drug Therapy for Hyperactive Children:
Adjudicating Disputes Between Parents and Educators, 11 BU Pub
Int LJ 97 (2001).
Morrissey JM, Hofmann AD, Thorpe JC: Consent and Confidentiality
in the Health Care of Children and Adolescents: A Legal Guide.
New York, Free Press, 1986.
Perman CM: Diagnosing the Truth: Determining Physician Liability
in Cases Involving Munchausen Syndrome by Proxy, 54 Wash UJ
Urb & Contemp L 267 (1998).
98
Since the landmark passage of PL 94-142 in 1975, special education legislation has greatly benefited many
American children and youth with disabilities and special
health care needs. Whereas some children and families
have fared better than others under the implementation of the legislation, the existence of special education
provisions ensures a level of community accountability
and scrutiny that keeps the issues of inclusion and opportunity squarely on the agenda of policymakers and
government officials. The rights afforded by the legislation protect against serious backsliding during years of
retrenchment and, as important, allow improvement of
services during times of public innovation.
FAMILY-PROFESSIONAL PARTNERSHIP
There are few stories that attest as strongly to the power
of collaboration between families and professionals than
that of the passage of special education legislation. The
story of special education legislation is a 30-year tale
of an evolving relationship between families and professionals. Drawn together by common goals to improve
the life chances of children with disabilities, parents and
child health care providers have learned that there is increased leverage when the two groups work in concert.
This combined constituency has achieved a number
of remarkable legislative victories that have resulted
in substantial legal protections and programmatic advances for children with disabilities. No legislation is
free from attack and no program is immune from the
vagaries of inadequate funding and inept implementation. Nonetheless, the existence of strong legislative underpinnings for special education attests to the power of
family-professional collaboration.
In the United States, education is an entitlement. This
fact makes the schools fundamentally different from
most other institutions. Recognizing that every child has
a right to education, advocates, including parents and
pediatricians, have pushed for legislative assurance that
all children with disabilities will have access to proper
school programs. In the late 1960s and early 1970s,
parent groups, child-helping professionals, and lawyers
joined together in an effective lobby to establish legal
precedents clarifying the rights of all children and youth
with disabilities. Two landmark cases, Pennsylvania
972
Early Intervention
Families and professionals have argued persuasively for
the value of early intervention services for children with
a wide range of physical and developmental disabilities.
Early intervention encompasses identification at the time
of diagnosis, direct services for the disabling condition,
and preventive services to avoid secondary disability.
The services should be provided in the community and,
whenever possible, at home. Parents should be involved
at every level of the planning, including their participation in the individualized family service plan (IFSP).
973
974
Part XI
ONGOING CHALLENGES
Several serious ongoing issues hamper the special education systems and keep them from reaching their ultimate promise. Four of these are less than effective early
identification systems, disparities in the quality of education afforded to children of different racial and ethnic
backgrounds, poorly articulated transition programs
into adulthood, and lack of full federal funding for the
FUTURE DIRECTIONS
Legislation provides a foundation on which people
build living, working structures. The outcomes depend
on many factors, including the resources allotted, the
commitment and support provided, and the presence or
absence of competing demands. Some chapters of the
IDEA saga delineate successes for children with severe
physical disabilities and sensory impairments. Others
document tragedies of promises half fulfilled for high
schoolaged youngsters from minority backgrounds
who have learning disabilities. Monitoring, vigilance,
and advocacy are warranted to ensure that high-quality
services are furnished at every level and that providers
have adequate training and support to carry out their
assignments (Palfrey, 2006).
Such monitoring is best carried out by professionals
and families working in concert. Several vehicles for such
collaboration exist. One of the most accessible is Family Voices, a membership organization that provides information on a reliable and timely basis to parents and
professionals so that, if need be, a combined voice can
speak out to protect and advance special education services for children with disabilities.
REFERENCES
American Academy of Pediatrics: The Classification of Child and Adolescent Mental Diagnoses in Primary Care (DSM-PC); Wolraich M (ed).
Elk Grove Village, IL, American Academy of Pediatrics, 1996.
Fox Health Policy Consultants, Lewin and Associates: Medicaid Coverage of Health-Related Services for Children Receiving Special
Education: An Examination of Federal Policies. Washington, DC,
U.S. Government Printing Office, 1991.
975
Horne RL: The education of children and youth with special needs:
What do the laws say? NICHCY News Digest 1:1, 1991.
Individuals with Disabilities Education Act (PL 101-476). 20 USC,
Chapter 33, 1400-1485 (1990).
Levine MD, Brooks R, Shonkoff J: A Pediatric Approach to Learning
Disorders. New York, John Wiley & Sons, 1980.
Massachusetts Special Education Law: Chapter 57 of the Acts of
2006. An Act addressing the special education needs of children
with the autism spectrum disorder. Available at: http://www.mass.
gov/legis/laws/seslaw06/sl060057.htm.
Office of Technology Assessment: Technology-Dependent Children:
Hospital vs. Homecare. Washington, DC, U.S. Government Printing Office, 1987.
Palfrey JS: Health care needs of children in special education programs. In Rubin L, Crocker A (eds): Developmental Disabilities:
Delivery of Medical Care for Children and Adults. Philadelphia,
Lea & Febiger, 1989, pp 23-29.
Palfrey JS: Community Child Health: An Action Plan for Today.
Westport, CT, Praeger, 1994.
Palfrey JS: Child Health in America: Making a Difference Through
Advocacy. Baltimore, Johns Hopkins University Press, 2006.
Palfrey JS, Walker DK, Butler JA, Singer JD: Patterns of family response to raising a child with chronic disabilities: An assessment
in five metropolitan school districts. Am J Orthopsychiatry 59:94,
1989.
Porter S, Burkley J, Bierle T, et al: Working Toward a Balance in Our
Lives: A Booklet for Families of Children with Disabilities and Special Health Care Needs. Boston, MA, Project School Care, The
Childrens Hospital, 1992.
Porter S, Haynie M, Bierle T, et al (eds): Children and Youth Assisted
by Medical Technology in Educational Settings: Guidelines for
Care. Baltimore, Paul H. Brooks, 1997.
Smith PJ, Mathews KS, Hehir T, Palfrey JS: Educating children with
disabilities: How pediatricians can help. Contemp Pediatr 9:102,
2000.
Walker DK: Care of chronically ill children in schools. Pediatr Clin
North Am 31:221, 1984.
Wright PD. Available at: http:www.wrightslaw.com/idea/law.htm.
Accessed September 25, 2006.
99
Vignette
Duncan is a 2-year-old boy referred by his family physician in rural New England to rule out a
mucopolysaccharide storage disease. Duncans mother has an acquaintance whose son was
diagnosed with Hunter syndrome. After several conversations and some searching on the Internet,
Duncans mother has come to the conclusion that her son has this same disorder. She approached
Duncans family physician, who agreed to collect a urine sample that indeed demonstrated marked
elevation of mucopolysaccharides (814 mg/mmoL). Duncan has been experiencing normal
development aside from expressive language delay. He has had recurrent episodes of otitis media and
snoring with sleep. Consults to otolaryngology and audiology specialists were set. Duncan, his parents,
and older brother came to the local childrens hospital, where his diagnosis was suspected by clinical
examination. Urine electrophoresis showed the presence of a large amount of dermatan sulfate and
trace of heparan sulfate. The plasma study for lysosomal storage diseases demonstrated deficient
activity of 2-sulfatase, supporting a diagnosis of Hunter syndrome. Sequencing of the gene encoding
iduronate-2-sulfatase identified a C>T change at nucleotide 1122 (c.1122C>T), which creates a cryptic
splice site known to be pathologic. Within a few weeks of Duncans being seen in the clinic, his familys
suspicions were confirmed, and his clinical diagnosis of Hunter syndrome was established without
question. His mother, while awaiting laboratory confirmation, had arranged conversations with
specialists in stem cell transplantation experimental treatment protocols and in enzyme replacement
therapy protocols (otolaryngology). By the time the laboratory results returned, Duncans mother had
made arrangements to travel to the site of the enzyme replacement treatment research coordinating
center in a state distant from her home for evaluation and treatment discussion.
Duncans multispecialty baseline evaluations by specialists in neurology, audiology, otolaryngology,
orthopedics, and developmental psychology revealed that he was experiencing mild to moderate
conductive hearing loss, normal development aside from significant delays in expressive language,
and no significant medical complication. His skeletal survey demonstrated mild dysostosis
multiplex; he had significant hepatosplenomegaly and no other complications. The Food and
Drug Administration had approved enzyme replacement therapy for Hunter syndrome, and within
weeks Duncan began his weekly infusions at the childrens hospital infusion center. Within 6
months, Duncans parents noted that his hepatosplenomegaly had resolved and the irregularity of
his craniofacial features had lessened subjectively. Early intervention services and family supports
were in place. The state Medicaid program had enrolled Duncan in its childrens state insurance
plan as a secondary source for those expenses of treatment after his familys private insurance
coverage maximum was reached. Duncans treatment continues. His otolaryngologic problems
have been treated surgically successfully by tonsillectomy and adenoidectomy and tympanostomy
tube placement. His hearing loss has been addressed with hearing aids. His development remains
age appropriate a year later; his speech delays persist. Weekly infusion of the enzyme replacement
product has gone well with no significant adverse events; one medication error requiring institutional
reporting has occurred.
977
978
4. Constraints on exploiting the revolution in information technology. Large numbers of patients are turning
to the Internet and World Wide Web for health care
information and health care services. Our children will
expect to receive health care in the same way we make
airline reservations and they create social networks.
Tapping into the potential of information technology
to inform health care systems will require a transformation of health care. The Committee on Quality of
Health Care in America (2001) identified five key areas
in which information technology could contribute to
an improved health care delivery system:
Table 99-1. Old Rules Versus the New Rules of Health Care
Old Rules
New Rules
Compiled from Institute of Medicine: Crossing the Quality Chasm: A New Health System for the 21st Century. Washington, DC, National Academy Press, 2001;
and Berwick DM: A users manual for the IOMs Quality Chasm report. Health Affairs 21:80-90, 2002.