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Diagnostic Criteria from DSM-IV:
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Based on IQ test score :
- Mild : 50–55 to ± 70 (Educable)
- Moderate : 35–40 to 50-55 (Trainable)
- Severe : 20–25 to 35-40
- Profound : below 20 / 25
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Cerebral palsy
Vision, hearing, orthopedic, and
dysmorphisme.
Learning problems: attention, language,
memory.
Behavioral / emotional problems :
motivation, self – regulation, social
interaction, hyperactivity.
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Biologic
Genetic ( cognitive impairment )
Socio-economic (poverty, undernutrition,
understimulation )
Mixed
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MR = 2.5 % of population
Mild MR 85 % ( 2,1 % of population )
– boys : girls = 2 : 1
Severe MR appr, 0.3 – 0.5 % of the
population,
- boys : girls = 1.5 : 1
a consequence of X – linked disorders.
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Newborn, we have to concern when
- dysmorphisme
- mayor organ system dysfunction ( feeding and breathing )
Early infancy ( 2-4 mo ), we have to be suspicious when
- failure to interact with the environment,
- lack of visual or auditory responsiveness,
- unusual muscle tone or posture,
- and feeding difficulties.
6 and 18 mo of age,
- motor delay ( lack of sitting, crawling, walking )
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2 – 3 year : Language delay
3 – 5 year :
- behavior problems ( including play )
- delays in fine motor skills
( cutting, coloring, drawing )
School age :
- academic underachievement
- behaviour difficulties ( attention, anxiety, mood,
and conduct disorders )
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Parental concerns should be listened carefully
- some of their observations as accurate as
developmental screening tests.
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~ Diagnostic Criteria from DSM-IV,
Tests of intelligence and adaptive functioning
Intelligence tests :
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15 Months … Spontaneous Scribble
3 Years … Circle
4 Years … Cross
5 Years … Square
6 Years … Triangle
7 Years … Diamond
The role of the pediatrician
- early diagnosis,
- identification of associated deficits,
- interdisciplinary management
- provision of primary care, and advocacy for
the child and family.
The management strategies
- multi-modal : health, education, social and
recreational activities, behavior problems, and
associated impairments.
- Support for parents and siblings
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Family involvement
. The family should be an integral part of
the planning and direction of this process
. Care should be family centered and
culturally sensitive.
Older child
. should be involved in planning and
decision making.
14
Not useful, to improve intellectual function,
Helpful, in treating associated behavioral
and psychiatric disorders.
Psychopharmacology
- at specific symptom
- ADHD, self-injurious behavior,
aggression, anxiety and depression.
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Some families have emotional / social difficulties
Higher risk of parental depression and child abuse and
neglect
Factors associated
- good family coping
- good parenting skills
- stability of marriage
- self-esteem
- limited number of siblings
- higher socioeconomic status
- lower degree of disability/associated impairments.
- appropriate parental expectations and acceptance
- supportive extended family members
- and availability of community programs and care services.
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Depends on
- underlying cause,
- degree of cognitive and adaptive deficits,
- presence of associated medical and
developmental impairments,
- capabilities of the families
- school / community supports
- services and training provided to the child and
family
During school years
- develop sufficient adaptive behavior skills
- as the effects of maturation and plasticity of the brain.
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DS is the trisomy of chromosome 21,
the most common trisomy among live
births.
The syndrome was named after
Langdon Down, who first coined the
term mongolism because of the
mongoloid facial appearance of the
patients.
Patient features also include mental
retardation and short stature.
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In all areas of the world
All racial groups
the incidence rate is 1 per 600 – 700 live
births.
Sex:
The male to female ratio is increased
(approximately 1.15 : 1) in newborns with DS.
The effect is restricted to free trisomy 21.
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Age:
Occurrence strongly depends on maternal age.
Risk for recurrence of DS in a patient’s siblings also
is inherent to maternal age.
- For young mothers, risk of a free trisomy is 1–2%
- For mothers aged 20 years or younger,
occurrence is 1 per 2000 births.
- Risk increases considerably for mothers aged 35
years 1 per 365 live births.
- in mothers aged 45 years or older, occurrence
is 1 per 30 live births.
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Eight or more of the characteristic clinical findings
lead to a definite diagnosis.
Px have characteristic craniofacial findings, i.e.
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Simian palmar creases, dry skin, joint
hyperextensibility or hyperflexibility, neuromuscular
hypotonia, premature aging,
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Ocular
chronic external infections,
nystagmus,
keratoconus, keratoglobus,
cataracts,
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27
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1. Genetic
2. Radiation
3. Infectious disease
4. Autoimmunity
5. Maternal age
6. Other factors, such as intragametic
accidents, factors relating to satellite
association and nucleolar organizers,
chemicals.
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Various chromosomal abnormalities may lead to
DS, including :
- free trisomy 21 (94%)
- translocation (4%)
- mosaicism (2%)
A free trisomy 21 results from non disjunction
during meiosis in one of the parents.
This occurrence is correlated with advanced
maternal and paternal age.
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DS (trisomy 21) is the most commonly
recognized genetic cause of mental
retardation.
The risk of trisomy 21 is directly related to
maternal age.
All forms of prenatal testing for DS must be
voluntary.
A nondirective approach should be used when
presenting patients with options for prenatal
screening and diagnostic testing.
Patients who will be 35 years or older on their
due date should be offered chorionic villus
sampling or second – trimester amniocentesis.
32
Women younger than 35 years should be
offered maternal serum screening at 16
to 18 weeks of gestation.
34
Because of frequent congenital heart malformation,
early cardiology consultation is needed. Early
cardiologic evaluation is crucial for diagnosing and
treating congenital heart defects, which occur in
up to 60% of these patients.
Due to recurrent respiratory tract infections, a
pediatric pneumologist also should manage
patients with DS.
A child Psychiatrist should lead liaison
interventions, family therapies, and psychometric
evaluations.
Up to 10% of patients with DS have epilepsy:
therefore, neurological evaluation is needs.
Genetic counseling is indicated.
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Patients have a shortened life expectancy.
Early evaluation, diagnosis, and intervention
may prevent deaths due to congenital heart
defects.
36
Early stimulation therapy may benefit patients
with DS.
Patients may benefit from education programs.
Psychometric studies and social worker
intervention are needed for special education
planning.
Risk of recurrence for the patient’s child is
50%.
The advocacy efforts of patients with DS and
their families have resulted in huge
improvements in life quality and expectancy.
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dr. I G.A. Endah Ardjana, Sp. KJ (K)
Definition
pervasive developmental disorder which affects
(1) social and communication skills and, to a
greater or lesser degree,
(2) motor and language skills.
a broad diagnosis that it can include people with high IQs
and mental retardation (3/4)
can be chatty or silent, affectionate or cold, methodical or
disorganized.
Pervasive Developmental Disorder (PDD), includes
299.00 Autistic disorder
299.80 Rett’s disorder
299.10 Childhood Disintegrative disorder
299.80 Asperger’s Disorder
299.80 Pervasive Developmental Disorder Not
Otherwise Specified (Including Atypical Autism)
3 cardinal features:
Qualitative impairment in social interactions
Qualitative impaired communication(verbal & non-verbal)
Restricted, stereotyped,repetitive repertoire of interests &
activities.
Do symptoms of autism change over
time?
• For many children, autism symptoms improve with
treatment and with age.
• Some children with autism grow up to lead normal or
near-normal lives.
• Children whose language skills regress early in life,
usually before the age of 3, appear to be at risk of
developing epilepsy or seizure-like brain activity.
• During adolescence, some children with autism may
become depressed or experience behavioral problems.
Parents of these children should be ready to adjust
treatment for their child as needed.
Diagnosis
Impaired ability to make friends with peers impaired ability
to initiate or sustain a conversation with others
Absence or impairment of imaginative and social play
Stereotyped, repetitive, or unusual use of language
Restricted patterns of interest that are abnormal in intensity
or focus
preoccupation with certain objects or subjects
Inflexible adherence to specific routines or rituals
Treatment
• no cure for autism
• the earlier the intervention, the better
1) Educational/behavioral interventions:
-use highly structured and intensive skill-oriented training
sessions to help children develop social and language skills.
-Family counseling for the parents and siblings of children
with autism often helps families cope with the particular
challenges of living with an autistic child.
2) Medications:
-antidepressant medication to handle symptoms of
anxiety, depression, or obsessive compulsive
disorder
-Anti-psychotic medications are used to treat severe
behavioral problems.
-Seizures can be treated with one or more of the
anticonvulsant drugs.
-Stimulant drugs, such as those used for children
with attention deficit disorder (ADD), are
sometimes used effectively to help decrease
impulsivity and hyperactivity.
3) Other therapies:
- There are a number of controversial therapies or
interventions available for autistic children, but
few, if any, are supported by scientific studies.
- Parents should use caution before adopting any of
these treatments.
Treatment Planning
1)Screening
Postpartus Newborn Screening
-if suspicious of autism, ASD, or mental retardation
-Metabolic defects associated with autism, but not covered in
routine newborn screening tests include :
(a) histidinemia
(b) adenylosuccinate lyase deficiency
(c) dihydropyrimidine dehydrogenase deficiency
(d) 5’-nucleotidase superactivity
(e) phosphoribosylpyrophosphate synthetase deficiency
Children with prolonged history of pica or high
environmental risk
-lead level
Children newly diagnosed with ASDs
- Genetic testing
(a) Clinical criteria for disorder such as fragile X syndrome, is not an
adequate substitute for genetic testing.
(b) Testing should include DNA testing for William’s syndrome, high
resolution chromosome testing, and fluorescent in situ
hybridization testing for Williams syndrome and subtelomeric
deletions
The following are not recommended:
- fMRI, allergy testing, hair analysis, chelation challenge testing, gut
permeability studies, and stool analysis.
Indications for screening
- Failure of responding to name, joing attention, babbling, single words,
pretend play, and imitation to emerge in a timely fashion.
- Loss of language or social skills
2) Treatment
• Intensive early intervention
- Extensive step-by-step curiculum targets language, daily living, and social skills
- Usually for 25 or more hours per week
- Employs ABA principles
- Commenced shortly after diagnosis and continued up to kindergarten or
primary school, depending upon the child’s progress and areas of handicap
- 6 important elements
(1) provision at the earliest possible age
(2) intensity (at least 20 hours per week)
(3) parent involvement, training, and support
(4) curricula focused on social and communication functioning
(5) systematic instruction with individual goals
(6) attention to generalisation so that acquired skills are employed in all
settings
- Parents benefit from periodic training aimed at skills building and reduction of
problematic behavior.
• Transition training
- Important whenever patient must make a major adaptation to a new setting
(new home,workplace) or new routine,or both
- 3 simple principles for successful transition planning:
(a) start early
(b) involve all service agencies and funding agencies
(c) try to have work secured before graduation or identity postsecondary
education options before graduation actually occurs
- Some of the key issues include housing/residential care, job training and
placement, social skill training, and estate planning.
- Employment options for adults with ASDs:
(a) sheltered workshops (most restrictive)
(b) secure employment
(c) supported employment
(d) full independence
- Predictors of successful employment:
(a) employment readiness
(b) adequacy of job match
(c) higher degree of social competence by the individual concerned
(d) provision and success of behavior management
Treatments
• Facilitated communication(FC)
- Information is trapped within the individual without the intervention of a
passive facilitator, who helps to tap out messages via keyboards.
• Scretin
- After a mother of a boy with autism reported very dramatic improvements in
autism symptomatology that followed diagnostic testing with secretin.
- Secretin infusions are expensive and cannot be justified for other than
gastrointestinal diagnostic purposes at this time.
• Auditory integration training (AIT)
- Identification of sound frequencies to which the patient is hypersensitive
- Music is then delivered by headphones to patient, and filtering is used to
dampen frequencies to which the individual is hypersensitive.
- Usual course: 10 days of treatment with modulated music presented in 2-half-
hour sessions per day.
- Another AIT: electronically altered music and human voice for 150-200hours
over 6-12 months.
B6 and magnesium treatment
- Megadoses
- Pyridoxine has adverse physical effects; especially reported in children
with Down Syndrome (photosensitive blisters, GI symptoms, motor and
sensory polyneuropathy)
Gluten- and casein-free diets
- Casein(in dairy products) forms an endogenous opiate called
casomorphine
- Gluten(found in wheat, oats, barley, and rye) breaks down to a peptide
(gliadomorphine-acts as an opiate)
- These opiates find ways into CNS of vulnerable childrenautism
(a) insufficient enzyme activity in gut
(b) an abnormally permeable gut
(c) an abnormally permeable blood-brain barrier
Other unproven treatments
- dimethylglycine, essential fatty acids, famotidine, vit. A, nonspecific
chelation therapy
- fMRI, allergy testing, hair analysis, chelation challenge testing, gut
permeability studies, and stool analysis.
- Sensorimotor integration
(a) to improve vestibular, cerebellar, and other sensory functions
(b) probably improves motor coordination(esp gross motor)
(c) no evidence of significant effect on core symptoms of autism
dr. IGA Endah Ardjana, SpKJ (K)
● ADHD
- Chronic neurobehavioral disorders that can
interfere with an individual’s ability to inhibit
behavior (impulsivity), function efficiently in
goal-oriented activities (inattention), or
regulate the activity level (hyperactivity) in
developmentally appropriate ways
Miller KJ, Castellanos FX. AD/HDs. Ped in Rev 1998; 19 (11)
- school difficulties
- academic underachievement
- troublesome interpersonal relationships with
family members and peers
- low esteem
● GENETIC FACTORS
● DEVELOPMENTAL FACTORS
● NEUROCHEMICAL FACTORS
● NEUROPHYSIOLOGICAL FACTORS
● PSYCHOSOCIAL FACTORS
A. Either 1 or 2
- Inattention: six (or more) of the following symptoms
of inattention have persisted for at least 6 months to a
degree that is maladaptive and inconsistent with
developmental level:
a. Often fails to give close attention to details or
makes careless mistakes in schoolwork, work, or
other activities
b. Often has difficulty sustaining attention in tasks or
play activities
…..Inattention
c. Often does not seem to listen when spoken to directly
d. Often does not follow through with instructions and
does not finish schoolwork, chores, or duties in the
workplace (not due to oppositional behavior or
failure to understand instructions)
e. Often has difficulty organizing tasks and activities
f. Often avoids, dislikes, or is reluctant to engage in tasks
that requires sustained mental effort (such as
schoolwork or home work)
g. Often loses things necessary for tasks or activities (eg.
toys, school assignments, pencils, books or tools)
h. Is often easily distracted by extraneous stimuli
i. Is often forgetful in daily activities
- Hyperactivity/Impulsivity: Six (or more) of the following
symptoms of hyperactivity and impulsivity have
persisted for at least 6 months to a degree that is
maladaptive and inconsistent with developmental level:
Hyperactivity
a. Often fidgets with hands or feet or squirms in seat
b. Often leaves seat in classroom or in other
situations in which remaining seated is expected
c. Often runs about or climbs excessively in situation
in which this behavior inappropriate
(in adolescents or adults may be limited to
subjective feelings of restlessness)
….Hyperactivity/Impulsivity
Impulsivity:
g. Often blurts out answers before questions have been
completed
h. Often has difficulty awaiting turns
i. Often interrupts or intrudes on others (eg. Butts into
conversations or games)
B. Some hyperactive-impulsive or inattentive symptoms
that caused impairment were present before age 7 years
C. Some impairment from the symptoms is present in two
or more setting (eg. at school (or work) and at home)
D. There must be clear evidence of clinically significant
impairment in social, academic, or occupational
functioning
E. The symptoms do not occur exclusively during the
course of Pervasive Developmental Disorders,
Schizoprenia or other Psychotic Disorder and are not
better accounted for by another mental disorder (eg.
Mood Disorder, Anxiety Disorder, Dissociative Disorder,
or a Personality Disorder)
The DSM-IV-TR notes that the designation of “not
otherwise specified” (NOS) may be used for
disorders with prominent symptoms of inattention
or hyperactivity-impulsivity that do not meet ADHD
criteria
SUBTYPE OF ADHD
paper.
Feeding and Eating disorder of infancy or Early
Childhood
Diagnostic criteria for Pica
A. Persistent eating of nonnutritive substances for a period
of at least 1 month.
B. The eating of non nutritive substances is inappropriate to
the developmental level.
C. The eating behavior is not part of a culturally sanctioned
practice.
D. If the eating behavior occurs exclusively during the course
of another mental disorder (e.g., Mental Retardation,
Pervasive Developmental Disorder, Schizophrenia), it is
sufficiently severe to warrant independent clinical
attention.
Pica
Management
Brain damage and learning disabilities (mental-
retardation) should be excluded.
The child should be kept away from the inedible
substance (s).
Prognosis
Usually resolves as the child grows older
TIC DISORDER
Spontaneous, repetitive, stereotyped movements that
can be motor or vocal and usually involve ⇈ Dopamin
in basal ganglia most commonly ---> affect the
muscle of the face and neck, such as eye blinking,
head-jerking, mouth-grimacing or head shaking etc.
Children and adolescents may exhibit tic behaviors
that occur after a stimulus or in response to an internal
urge.
Tic disorders
Epidemiology
Prevalence
10 – 20% of children show transient tics at some time.
Sex ratio
Commoner in males.
TIC DISORDER
Tic disorders
Management
Education
Education, advice and reassurance for the child and
parents may be all that is required for simple tics.
Behavioural
relaxation or massed practice may help.
Medication
Antipsychotics haloperidol or pimozide may be
useful
Tourette’s Disorder
∾ Gilles de la
A developmental neuropsychiatric disorder by
multiple motor and one or more vocal tics, present for
at least a year---> distress and impaired function.
Often begin ages of 3 and 8 yrs
Related to fatique, emotional stress and excitement.
Usually peaks in early adolescent---end of adolescent
Tourette’s Disorder
Epidemiology
♂ : ♀ = 3:1
Prevalence 4-6 /10000 in European and Asian
Aetiology
Interaction genetic and environmental (psychosocial
stress).
Possibilities include gestational and perinatal insults,
post-infectious autoimmune mechanism etc.
Tourette’s Disorder
Comorbidity
OCD and ADHD commonly
Depression, anxiety, migraine, sleep
difficulties, poor impulse control.
Tourette’s Disorder
Management
Psychoeducation child, family and life style
adjustment
Close liason with school and educational intervention
Pharmacological (antipsychotics)
Treat comorbidity
Behavioural interventions....relaxation