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Committee to Evaluate the Supplemental Security Income Disability Program for Children with Mental Disorders; Board on the Health of Select
Populations; Board on Children, Youth, and Families; Institute of Medicine; Division of Behavioral and Social Sciences and Education; The
National Academies of Sciences, Engineering, and Medicine; Boat TF, Wu JT, editors. Mental Disorders and Disabilities Among Low-Income
Children. Washington (DC): National Academies Press (US); 2015 Oct 28.

9 Clinical Characteristics of Intellectual Disabilities

DIAGNOSIS AND ASSESSMENT

Intelligence is the gener al mental capacity that involves reasoning, planning, solving problems, thinking
abstractly, comprehending complex ideas, learning efficiently , and learning fr om experience ( AAIDD, 2010 ).
Historically, intellectual disability (previously termed “mental retardation”) h as been defined b y significant
cognitive deficits—which has been established through a standardized measure of intelligence, in particular, with
an IQ score of below 70 (two standard deviations below the mean of 100 in the population)—and also b y
significant deficits in functional and adaptive skills. A daptive skills involve th e ability to carry out age-appropriate
daily life activities. Two different systems for classifying intellectual disability (ID) used in the United States are
that of the American Association on Intellectual and Developmental Disabilities (AAIDD) and the Diagnostic and
Statistical Manual of Mental Disorders, 5th Edition (DSM-5), which is published b y the American Psychiatric
Association. Both of these systems classify severity of ID according to the levels of support needed to achieve an
individual's optimal personal functioning (see Table 9-1 ).

DSM-5 defines intellectual disabilities as neurodevelopmental disorders that begin in childhood and are
characterized b y intellectual difficulties as well as difficulties in conceptual, social, and pr actical areas of living.
The DSM-5 diagnosis of ID requires the satisfaction of three criteria:
1. Deficits in intellectual functioning—“reasoning, problem solving, planning, abstr act thinking, judgment,
academic learning, and learning from experience”—confirmed b y clinical eva luation and individualized
standard IQ testing ( APA, 2013 , p. 33);
2. Deficits in adaptive functioning that significantly hamper conforming to developmental and sociocultur al
standards for the individual's independence and ability to meet their social responsibility; and
3. The onset of these deficits during childhood.

The DSM-5 definition of ID encour ages a more comprehensive view of the ind ividual than was true under the
fourth edition, DSM-IV . The DSM-IV definition included impairments of gener al mental abilities that affect how a
person functions in conceptual, social, and daily life areas. DSM-5 abandoned specific IQ scores as a diagnostic
criterion, although it retained the gener al notion of functioning two or more s tandard deviations below the
general population. DSM-5 has placed more emphasis on adaptive functionin g and the performance of usual life
skills. In contr ast to DSM-IV, which stipulated impairments in two or more ski ll areas, the DSM-5 criteria point to
impairment in one or more superordinate skill domains (e.g., conceptual, social, pr actical) ( Papazoglou et al.,
2014).

Classifications of Se verity
The terms “mild,” “moder ate,” “severe,” and “profound” have been used to de scribe the severity of the condition
(see Table 9-1 ). This approach has been helpful in that aspects of mild to moder ate ID differ from severe to
profound ID. The DSM-5 retains this grouping with more focus on daily skills than on specific IQ r ange.

Mild to Moderate Intellectual Disability

The majority of people with ID are classified as having mild intellectual disabilities. Individuals with mild ID are
slower in all areas of conceptual development and social and daily living skills. These individuals can learn
practical life skills, which allows them to function in ordinary life with minim al levels of support. Individuals with
moderate ID can tak e care of themselves, tr avel to familiar places in their com munity, and learn basic skills
related to safety and health. Their self-care requires moder ate support.

Severe Intellectual Disability

Severe ID manifests as major dela ys in development, and individuals often ha ve the ability to understand speech
but otherwise have limited communication skills ( Sattler, 2002 ). Despite being able to learn simple daily routines
and to engage in simple self-care, individuals with severe ID need supervision in social settings and often need
family care to live in a supervised setting such as a group home.

Profound Intellectual Disability

Persons with profound intellectual disability often have congenital syndromes ( Sattler, 2002 ). These individuals
cannot live independently , and they require close supervision and help with s elf-care activities. They have very

limited ability to communicate and often have ph ysical limitations. Individua ls with mild to moder ate disability
limited ability to communicate and often have ph ysical limitations. Individua ls with mild to moder ate disability
are less lik ely to have associated medical conditions than those with severe or profound ID.

Evaluation of Se verity

Currently AAIDD publishes a fr amework for evaluating the severity of ID, the Supports Intensity Scale (SIS), which
focuses on the types and intensities of supports needed to enable an individual to lead a normal and independent
life, rather than defining severity in terms of deficits. The SIS evaluates the su pport needs of an individual across
49 life activities, divided into six categories: home living, community living, life-long learning, emplo yment, health
and safety, and social activities.
DSM-5 notes that intellectual functioning reflects sever al different componen ts: verbal comprehension, working
memory, perceptual reasoning, quantitative reasoning, abstr act thought, and cognitive efficacy ( APA, 2013 ).
Accurate measurement requires an instrument that is psychometrically valid, cultur ally appropriate, and
individually administered. In the absence of appropriate measurement instruments, screening instruments are
still able to assist in the identification individuals who need further testing. IQ test results fall along the normal
(bell-shaped) curve, with an aver age IQ of 100, and individuals who are intell ectually disabled are usually two
standard deviations below the aver age (IQ below 70). V arious issues (e.g., co-occurring communication problems,
sensory or motor difficulties) can affect assessment, and psychologists must address these in considering which
tests to use. IQ scores are usually reported with an associated confidence interval which indicates a r ange within
which the “true” score is lik ely to fall.

A frequently used IQ measure for children in the United States is the W echsler Intelligence Scale for Children
(WISC-V). It historically measured verbal IQ, performance IQ, and full performance IQ ( Wechsler et al., 2004 ). In
its most recent edition, the WISC-V provides an over all IQ score as well as five other scores for verbal
comprehension, visual spatial skills, fluid reasoning, working memory , and processing speed ( Pearson Education,
2015). Because IQ scores have been constantly rising since the 1930s, standardized IQ tests have been periodically
renormed based on the current population ( Flynn, 1987 ).

Etiology

Environmental factors such as exposure to toxic substances (e.g., prenatal alcohol exposure, prenatal or postnatal
lead exposure), nutritional deficiencies (e.g., prenatal iodine deficiency), br ain radiation, childhood br ain
infections, tr aumatic br ain injury, and maternal infections (e.g., rubella, cytom egalovirus) can lead to ID.
Additionally, prenatal and postnatal complications—e.g., complications of prematurity such as h ypoxemia and
periventricular hemorrhage—ma y cause br ain injury resulting in ID ( Gustafsson, 2003 ).
Genetic factors pla y a major role in ID. Different genetic causes ma y lead to ID. Down syndrome (trisomy 21) is the
most common genetic cause of ID in the United States, occurring approximately once every 700 live births ( Parker
et al., 2010 ). Fragile X syndrome is the most common known inherited cause of ID, and i t affects approximately 1
per 5,000 males ( Coffee et al., 2009 ). Many cases of ID in the population are of unknown etiology .
Because of the varied causes and consequences of ID, an initial evaluation should address intellectual and life
skills, the identification of genetic and nongenetic etiologies, and the diagnosis of conditions that need treatment
(e.g., epilepsy and phen ylketonuria). Prenatal and perinatal medical histories, a ph ysical examination, genetic
evaluations, and metabolic screening and neuroimaging assessment ma y aid in the determination of
characteristics that ma y influence the course of the disorder.

DEMOGRAPHIC FACTORS AND DURATION OF THE DISORDER

ID begins in the first two decades of life. The age and char acteristics of onset d epend on the cause of the disability
and the severity of the neuropsychiatric dysfunction. The identification of children with more severe ID (what
previously would have been termed severe and profound mental retardation) typically occurs early in life. These
children often have dysmorphic features and associated medical conditions and higher r ates of behavior al and
psychiatric disturbances. Individuals with severe intellectual disability ma y show dela yed motor, language, and
social accomplishments within the first 2 years of life. Individuals with mild intellectual disability ma y not be
recognized until early school age because that is when their difficulties with academic learning become apparent.
Depending on its cause, ID ma y be stable and nonprogressive or it ma y worsen with time. After early childhood,
the disorder is chronic and usually lasts an individual's lifetime; however, the severity of the disorder ma y change
with age. F or example, visual or hearing difficulties, epilepsy , childhood psych ological or head tr auma, substance
abuse, and other medical conditions ma y affect the course of the disorder. Co nversely, an early intervention ma y
improve adaptive skills.

Sex
Males are more lik ely than females to be diagnosed with ID. A ccording to the National Health Interview Survey ,
from 1997 to 2008 the prevalence of ID was 0.78 percent in bo ys and 0.63 perc ent in girls ( Boyle et al., 2011 ).

Overall, studies of prevalence show a male excess in the prevalence of ID, wh ich is partially explained b y x-linked
Overall, studies of prevalence show a male excess in the prevalence of ID, wh ich is partially explained b y x-linked
causes of the disability , such as fr agile X syndrome ( Durkin et al., 2007 ).

Race/Ethnicity

In the United States, the prevalence of ID varies b y race/ethnicity, probably du e to confounding b y socioeconomic
status (SES). Black non-Hispanic children are approximately twice as lik ely, and Hispanic children approximately
one and a half times as lik ely, to be diagnosed with ID as white non-Hispanic children ( Bhasin et al., 2006 ; Boyle
and Lary, 1996; Boyle et al., 2011 ; Camp et al., 1998 ; Van Naarden Br aun et al., 2015 ). Language differences and
poverty lik ely contribute to the r acial and ethnic differences in performance on cognitive tests and to the
corresponding disparities in prevalence. Even after taking the effects of SES into account, there is evidence that
test bias and diagnostic bias affects the r ates of the diagnosis of ID ( Jencks and Phillips, 1998 ).

Socioeconomic Status

Poverty is one of the most consistent risk factors for ID ( Cooper and Lackus, 1983 ; Durkin et al., 1998 ; Stein and
Susser, 1963 ). Boyle and colleagues reported that in the United States between 1997 and 2 008, the prevalence of ID
among children below 200 percent of the feder al poverty level (FPL) was 1.03 percent, while for those above 200
percent FPL the r ate was 0.5 percent ( Boyle et al., 2011 ). Similarly, Camp and colleagues found the prevalence of ID
among children of low SES to be more than twice as high as that among middle- or high-SES children ( Camp et al.,
1998). The association between low SES and poverty is consider ably stronger for m ild than for more severe levels
of ID (Drews et al., 1995 ; Durkin et al., 1998 ).

COMORBIDITIES
Many neurodevelopmental, psychiatric, and medical disorders co-occur with ID, especially communication
disorders, learning disabilities, cerebr al palsy, epilepsy, and various genetical ly transmitted conditions ( APA,
2013). Estimates of the r ates of psychiatric coexisting conditions vary . For many years there was an
underestimation of the increased risk for development of comorbid conditions (“diagnostic overshadowing”). As
research was conducted, it became clear that the risk for comorbid conditions is greater than previously believed.
For example, Rutter and colleagues reported r ates of 30 to 42 percent of psych opathology in children with “mental
retardation” compared with 6 to 7 percent in children without the disability ( Rutter et al., 1970 ). Gillberg and
colleagues reported that 57 percent of subjects with mild and severe “mental retardation” met diagnostic criteria
for affective, anxiety , conduct, schizophrenia, and somatoform disorders and attention deficit h yperactivity
disorder (ADHD) ( Gillberg et al., 1986 ). Most studies indicate a four- to fivefold increase in mental health problems
among individuals with ID. In gener al, at least 25 percent of persons with ID m ay have significant psychiatric
problems, with the population experiencing, in particular, significantly increased r ates of schizophrenia,
depression, and ADHD ( Bouras and Holt, 2007 ; Fletcher et al., 2007 ).

FUNCTIONAL IMPAIRMENT
The diagnosis of ID requires evidence of impairments in real life (adaptive) skills; thus all people with ID
demonstr ate functional impairment. These adaptive abilities relate to such th ings as understanding rules, the
ability to navigate the tasks of daily living, and participation in family , school , and community activities. V arious
assessments of such skills are available, such as the Vineland A daptive Behav ior Scales which is a widely used
instrument ( Sparrow et al., 2005 ). Assessment of these skills helps to plan remediation, i.e., teaching specific skills
and working on gener alization of skills.

TREATMENT AND OUTCOMES

Treatments for ID gener ally fall into three main categories: (1) treatments tha t address or mitigate an y underlying
cause of ID, such as restricting phen ylalanine in the diet of patients who have phenylketonuria; (2) treatments of
comorbid ph ysical and mental disorders with the aim of improving the patien t's functioning and life skills, such as
targeted pharmacologic treatments of behavior al disorders among children w ith fragile X syndrome ( Hagerman
and Polussa, 2015 ); and (3) early behavior al and cognitive interventions, special education, hab ilitation, and
psychosocial supports ( Szymanski and Kaplan, 2006 ).
Guidelines for the assessment and management of ID gener ally focus on psyc hosocial interventions. Challenges
vary with the age of the individual and the level of impairment as well as with the presence of other associated
conditions ( Curry et al., 1997 ; Moeschler et al., 2006 ; Shevell et al., 2003 ; Szymanski and King, 1999 ). Because
individuals with ID can manifest the full r ange of psychiatric disorders, medi cations can sometimes help manage
these disorders ( Reiss et al., 1982 ). However, the cognitive and verbal limitations of patients with ID mak e the
psychiatric diagnostic process difficult. These disorders frequently respond to standard psychiatric treatment, i.e.,
medication and psychosocial support, although in the main ID mak es treatme nt more complex.

FINDINGS

Historically, intellectual disability has been defined b y significant cognitive deficits, typically established b y
 Historically, intellectual disability has been defined b y significant cognitive deficits, typically established b y
the testing of IQ and adaptive behaviors. There are no labor atory tests for ID; however, man y specific causes
and genetic factors for ID can be identified through labor atory tests.
Males are more lik ely than females to be diagnosed with ID. Poverty is a risk factor for ID, especially for
mild ID.

The functional impairments associated with ID are gener ally lifelong. Howev er, there are functional
supports that ma y enable an individual with ID to function well and participa te in society.
As a diagnostic category , IDs include individuals with a wide r ange of intellectual functional impairments
and difficulties with daily life skills. The levels of severity of intellectual impairment and the need for
support can vary from profound to mild.

Comorbidities, including behavior al disorders, are common.

Treatment usually consists of appropriate education and skills tr aining, supp ortive environments to
optimize functioning, and the targeted treatment of co-occurring psychiatric disorders.

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Tables

TABLE 9-1 Classifications of Intellectual Disability Se verity

DSM-IV AAIDD Criteria

Criteria (severity SSI Listings Criteria (The SSI
Approximate (severity classified on listings do not specify
Percent levels were DSM-5 Criteria the basis of severity levels, but indicate
Distribution based only (severity classified intensity of different standards for
Severity of Cases b y on IQ on the basis of daily support meeting or equaling listing
Category Severity categories) skills) needed) level severity .)
Mild 85% Approximate Can live Intermittent IQ of 60 through 70 and a
IQ range 50– independently with support needed physical or other mental
69 minimum levels of during impairment imposing an
support. transitions or additional and significant
periods of limitation of function
uncertainty.
Moderate 10% Approximate Independent living Limited support A valid verbal, performance, or
IQ range 36– may be achieved with needed in daily full-scale IQ of 59 or less
49 moderate levels of situations.
support, such as those
available in group
homes.
Severe 3.5% Approximate Requires daily Extensive A valid verbal, performance, or
IQ range 20– assistance with self- support needed full-scale IQ of 59 or less
35 care activities and for daily
safety supervision. activities.
Profound 1.5% IQ <20 Requires 24-hour Pervasive A valid verbal, performance, or
care. support needed full-scale IQ of 59 or less
for every aspect
of daily
routines.

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Bookshelf ID: NBK332877