Transcript Child MR PDD DD Dr Hrycko 2010

Developmental Disabilities and
Pervasive Developmental
disorders
Dr. Sophia Hrycko
April 15, 2010
Objectives
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
To review Developmental
Disabilities
To review Pervasive Developmental
Disorders
To discuss comorbidity and
treatment options
Developmental Disability
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Often diagnosed in infancy
Mental retardation is the result of a
pathological process in the brain
characterized by limitations in intellectual
and adaptive function.
Areas of function affected:
communication, self-care, independence,
functional/academic skills, work, health,
leisure, safety
DSM-IV-TR
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Mental retardation requires
intellectual deficits (IQ measured by
standardized test) and deficit in
adaptive function (use of measure
with deficits in at least two areas of
deficits, Vineland Adaptive Behavior
Scale: communications, daily living
skills, socialization and motor skills)
Manifested before age of 18
TABLE 21–3. Clinical features of mental retardation
Source. Reprinted from American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text
Revision. Washington, DC, American Psychiatric Association, 2000. Used with permission.
#1
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DSM-IV-TR lists the prevalence of
mental retardation in the US as

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A. 1 %
B. 3%
C. 5%
D. 6%
E. None of the above
#1A
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DSM-IV-TR lists the prevalence of
mental retardation in the US as





A.
B.
C.
D.
E.
1%
3%
5%
6%
None of the above
#2

When IQ is used as the sole
criterion for mental retardation, the
prevalence rate is estimated to be:





A.
B.
C.
D.
E.
0.5 %
1%
2%
3%
10%
#2A

When IQ is used as the sole
criterion for mental retardation, the
prevalence rate is estimated to be:



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
A.
B.
C.
D.
E.
0.5 %
1%
2%
3%
10%
Epidemiology

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
About 1 % of the population.
1.5 time more common in men
High mortality rates with severe or
profound MR because of
complications associated with
physical disorders.
Etiology
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Genetic
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Down syndrome
Fragile X
Prader-Willi syndrome
PKU
Neurofibromatosis
Tuberous sclerosis
Developmental/Acquired
Environmental/social
#3
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Moderate Mental retardation

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A. Reflects an IQ range of 25 to 40
B. Is seen in approximately 3 to 4 %
of persons with mental retardation
C. Has an identifiable organic etiology
in the vast majority of cases
D. Usually is associated with the ability
to achieve academic skills at the
second to 3rd grade level
E. All of the above
#3A
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Moderate Mental retardation

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
A. Reflects an IQ range of 25 to 40
B. Is seen in approximately 3 to 4 %
of persons with mental retardation
C. Has an identifiable organic etiology
in the vast majority of cases
D. Usually is associated with the
ability to achieve academic skills at
the second to 3rd grade level
E. All of the above
Acquired/developmental
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Prenatal: rubella, CMV, Syphilis,
Toxoplasmosis, Herpes, AIDS, fetal
alcohol syndrome
Complications of pregnancy
Perinatal
Infection, head trauma, etc.
#4
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A.
Adrenoleukodystroph
y
B. Rett’s disorder
C. Acquired immune
deficiency syndrome
AIDS
D. Rubella
E. Cytomegalic virus
CMV
F. Toxoplasmosis
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Mental retardation with
periventricular intracerebral
calcifications, jaundice,
microcephaly and
hepatosplenomegaly
Progressive encephalopathy
and MR in 50% of children
born to mother with this
disorder
An X-linked MR syndrome
that is degenerative and
affects only females
Diffulse demyelination of
cerebral cortex leading to
visual and intellectual
impairment, seizures, and
spasticity, and
adrenocortical insufficiency
MR, microcephay,
microphthalmia, congenital
heart disease, deafness,
cataracts
#4A
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A.
Adrenoleukodystrophy
B. Rett’s disorder
C. Acquired immune
deficiency syndrome
AIDS
D. Rubella
E. Cytomegalic virus
CMV
F. Toxoplasmosis (MR,
diffuse intracerebral
calcifications,
hydrocephalus,
seizures and
chorioretinitis
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Mental retardation with
periventricular intracerebral
calcifications, jaundice,
microcephaly and
hepatosplenomegaly E
Progressive encephalopathy
and MR in 50% of children
born to mother with this
disorder C
An X-linked MR syndrome
that is degenerative and
affects only females B
Diffulse demyelination of
cerebral cortex leading to
visual and intellectual
impairment, seizures, and
spasticity, and
adrenocortical insufficiency
A
MR, microcephaly,
microphthalmia, congenital
heart disease, deafness,
cataracts D
Comorbidity
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Up to 2/3 of individuals with MR
have comorbid mental disorders.
The more severe the MR, the higher
the risk for other mental disorders.
Disruptive and conduct-disorder
behaviors are more frequent in Mild
MR
Autistic disorder more common with
severely retarded individuals.
#5
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Common manifestations of anxiety
in persons with mental retardation
include



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
A.
B.
C.
D.
E.
Aggression
Agitation
Repetitive behaviors
Self-injury
All of the above
#5A
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Common manifestations of anxiety
in persons with mental retardation
include





A.
B.
C.
D.
E.
Aggression
Agitation
Repetitive behaviors
Self-injury
All of the above
Evaluation
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Complete history and physical exam
Will need to evaluate Intellectual
function (WISC or WPPSI) and
Adaptive function (Vineland
Adaptive Behavior Scale)
Sensory screening ( speech,
hearing)
Laboratory studies:

Genetic testing, metabolic testing,
thyroid/lead screening, imaging
Practice Parameters: Evaluation of child
with Global Develop. Delay
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Metabolic screening NOT indicated in initial
evaluation (yield 1%)
Routine cytogenetic studies and molecular testing
for FRA X mutation recommended (yield 3.510%)
Consider Rett syndrome in girls with unexplained
moderate to severe delay
Serum lead when identifiable risk
EEG NOT recommended initially unless features of
epilepsy
Imaging with MRI > CT if physical findings
Shevell et al Neurology 2003 60: 367-380
Down Syndrome
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Trisomy 21, 95%
nondisjunction
1 in 1000 live births
1 in 80 at 40 yrs
Hypotonia, upward slanted
palpebral fissures, midface
depression, flat wide nasal
bridge, simian crease, short
stature, increased incidence of
thyroid anomaly and congenital
heart disease.
Passive, affable
25% ADHD
Verbal processing > auditory
processing
Increased risk of depression
and dementia as adult
Down syndrome. Note
depressed nasal bridge,
epicanthal folds, mongoloid
slant of eyes, low-set ears,
and large tongue.
Fragile X
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Mutation of the FMRI
gene at Xq27.3. Full
mutation: CGG
trinucleotide repeat >
200 to 230 repeats
Prevalence 1/1000 male
births and 1/3000
female birth
Second most known
cause of MR of genetic
origin (10-12% MR in
men)
long face, large ears,
midface hypoplasia,
arched palate
Fragile X
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Macroorchidism
Short stature, strabismus, joint
laxity
ADHD, anxiety, speech/language
delays, shyness, irritability,
stereotypies. LD in some female.
Male: moderate to severe MR
Female: mild MR
#6
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Fragile X syndrome
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A. Has a phenotype that includes
postpubertal microorchidism
B. Affects only males
C. Usually causes severe to profound
MR
D. Has a phenotype that includes large
head and large ears.
E. All of the above.
#6A
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Fragile X syndrome



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
A. Has a phenotype that includes
postpubertal microorchidism
B. Affects only males
C. Usually causes severe to profound
MR
D. Has a phenotype that includes
large head and large ears.
E. All of the above.
#7
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Which of the following disorders is
least often associated with Fragile X
syndrome:
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
A. Autistic disorder
B. Schizotypal personality disorder
C. Attention deficit/hyperactivity
disorder
D. Bipolar disorder
E. Social anxiety disorder
#7A
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Which of the following disorders is
least often associated with Fragile X
syndrome:



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
A. Autistic disorder
B. Schizotypal personality disorder
C. Attention deficit/hyperactivity
disorder
D. Bipolar disorder
E. Social anxiety disorder
Praeder-Willi Syndrome
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Deletion on long arm of
chr. 15q11-15q13 (70%
paternal, rest maternal
uniparental disomy)
1 in 15 000 birth
Hyperphagia
Obesity
Small hands/feet
Short stature
Microorchidism
Fair hair/light skin
Almond shaped eyes
Praeder-Willi Syndrome
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Obsessions and
compulsions
High rates of behavior
problems:
aggression, temper
tantrums, emotional
lability, daytime
sleepiness
Increased risk for
OCD, affective and
impulse control
disorders.
Phenylketonuria
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Autosomal Recessive defect in
phenylalanine hydroxylase 12q.24.1 or
cofactor 11q22.3-q23.3
Cause accumulation of phenylalanine if
untreated and will result in MR (mild to
profound), microcephaly, delayed speech,
seizures and behavior problems (selfinjury, hyperactivity)
Prevalence 1/12 000
Fair skin, blue eyes, blond hair
Tuberous Sclerosis
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Autosomal Dominant
Mutation in TSC1 gene (hamartin)
9q34 or the TSC2 tumor suppressor
gene (tuberin) 16p13
Prevalence 1/6 000
Spectrum of MR, none (30%) to
profound
Epilepsy, autism, hyperactivity,
impulsivity, aggression, selfinjurious behaviors, sleep problems
Tuberous Sclerosis
Figure 589-2 Tuberous sclerosis. A, CT scan with subependymal calcifications characteristic of
tuberous sclerosis. B, The MRI demonstrates multiple subependymal nodules in the same
patient (black arrow). Parenchymal tubers are also visible on both the CT and the MRI scan as
low-density areas in the brain parenchyma.
Neurofibromatosis type 1
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Autosomal dominant
17q11.2
Prevalence 1/3 000
(NF2 1/33 000, 22q)
Café au lait spots
Neurofibromas
Short stature and
macrocephaly in 3045%
10 % with moderate
to profound MR
ADHD, anxiety, mood
problems
Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
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Most common
preventable cause of
MR
1/3 000 live birth
Microcephaly, short
stature, midface
hypoplasia, short
palpebral fissure
Thin upper lip,
micrognatia,
hypoplastic
long/smooth philtrum
Mild to moderate MR,
irritability, memory
impairment
#8
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A. Prader-Willi
syndrome
B. Down’s
syndrome
C. Fragile X
syndrome
D.
Phenylketonuria
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Attributed to a
deletion in
chromosome 15
Most commonly occurs
via autosomal
recessive transmission
Abnormalities
involving chromosome
21
Occurs via a
chromosomal
mutation at Xq27.3
Example of a genomic
imprinting
#8A
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A. Prader-Willi
syndrome
B. Down’s
syndrome
C. Fragile X
syndrome
D.
Phenylketonuria
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Attributed to a
deletion in
chromosome 15 A
Most commonly occurs
via autosomal
recessive transmission
D
Abnormalities
involving chromosome
21 B
Occurs via a
chromosomal
mutation at Xq27.3 C
Example of a genomic
imprinting A
Pervasive Developmental
disorders
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Autistic Disorder
Rett’s Disorder
Childhood Disintegrative Disorder
Asperger’s Disorder
Pervasive Developmental disorder
NOS
Autistic Disorder
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Diagnostic Features
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3 main sets of behavioral characteristics:’
- Social abnormality
- Language abnormality
- Stereotyped repetitive pattern of behavior
Age of onset: prior to age 3
Male/Female = 4/1
Prevalence: 9.5 / 10 000 (range 2.3 to
30.8/
10 000)
Autistic Disorder
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Course: variable, strongest
predictive factors for adult outcome
are IQ (below 70 is strongly
indicative of poor social adjustment)
and the level of language
functioning at age 5
Etiology: unknown, evidence of
strong genetic component;
abnormal serotonergic activity,
hyperdopaminergic activity
Diagnostic Criteria
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Qualitative impairment in Social Interaction
Impairment in the use of multiple nonverbal
behaviors: eye to eye gaze, facial
expression, body postures and gestures to
regulate social interaction
Failure to develop peer relationships
appropriate to developmental level
Lack of spontaneous seeking to share
enjoyment, interests or achievements with
other people (not showing, bringing or
pointing out objects of interests)
Absence of social or emotional reciprocity
Cont.
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Qualitative impairment in
Communication
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Delay in or total lack of, development of
spoken language (no attempt to
compensate with gestures or mime)
If speech present, marked impairment in
the ability to initial or sustain conversation
with others
Stereotyped and repetitive use of language
or idiosyncratic language
Lack of varied, spontaneous make-believe
play or social imitative play appropriate to
develop. level
Cont.
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Restricted repetitive and stereotyped
patterns of behavior, interest and
activities
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Encompassing preoccupation with one or more
stereotyped and restricted patterns of interest that is
abnormal either in intensity or in focus
Inflexible adherence to specific, nonfunctional routines
or rituals
Stereotyped and repetitive motor mannerisms:
hand or finger flapping or twisting, complex wholebody movements
Persistent preoccupation with parts of objects
Consider Evaluation if by:
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12 months: No babbling or
gesturing (pointing, waving byebye)
16 months: No single words
24 months: No spontaneous 2
word phrases (i.e. not just echolalia
or repeating someone else’s words)
Any age: any loss of any language
or social skills
Consider Evaluation if
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Especially when combined with
language delays:
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Abnormal eye contact
Aloofness
Not responding to one’s name
Not using gestures to point or show
Lack of interactive play
Lack of interest in other children
#9
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Which of the following features does
not distinguish autistic disorder
from mixed receptive-expressive
language disorder?
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
A.
B.
C.
D.
E.
Echolalia
Stereotypies
Imaginative play
Associated deafness
Family history of speech delay
#9A
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Which of the following features
does not distinguish autistic
disorder from mixed receptiveexpressive language disorder?

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A. Echolalia
B. Stereotypies
C. Imaginative play
D. Associated deafness
E. Family history of speech delay
(25% for both autistic and
language disorders)
#10
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Neurological-biochemical anomalies
associated with autistic disorder
include





A.
B.
C.
D.
E.
Grand mal seizures
Ventricular enlargement on CT scan
EEG abnormalities
Increased brain volume
All of the above
#10A

Neurological-biochemical anomalies
associated with autistic disorder
include

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
A. Grand mal seizures (4 to 32 %)
B. Ventricular enlargement on CT scan
(20 to 25%)
C. EEG abnormalities
D. Increased brain volume
(cerebellum, frontal lobe and limbic
system)
E. All of the above
Autistic Disorder Associated
Features
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IQ below 70 for 75% of autistics
Uneven cognitive skills
Level of receptive language below
expressive language
Behavioral symptoms: hyperactivity,
impulsivity, aggressiveness, self-injurious
behavior (head banging,
finger/hand/wrist biting), temper
tantrums
Abnormal mood (giggling or weeping)
Lack of fear
Autistic Disorder Associated
Findings
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Abnormal Imaging Studies:
underactivation of fusiform gyrus,
abnormality in the medial temporal lobe,
increase in brain size in some
EEG abnormalities: varied, non-specific
Non-specific neurological symptoms:
primitive reflexes, delayed hand
dominance
Medical conditions associated with
Autism: encephalitis, neurofibromatosis,
PKU untreated, tuberous sclerosis, fragile
X, anoxia, maternal rubella
Epilepsy in 10 – 35%
Temple Grandin
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A narrow fixation, with assistance can be
broadened into a career (tuning piano,
reshelving books, computer programming,
etc.)
Recognize the social limitations and protect
from situations beyond their capacity
Visual thinking: “all my thinking is in
pictures”, abstract concept are represented
by pictures.
ex. Word over, video of a dog, boat
Sensory problems
#11
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True statements about autistic disorder
include which of the following?
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A. Girls outnumber boys in individuals with
autism without mental retardation
B. There is an established and conclusive
association between autism and upper
socioeconomic status.
C. Prevalence rates amy be as high as 1 in
1000 children.
D. Abnormalities in functioning must be
present by age 2 to meet DSM-IV-TR
diagnostic criteria.
E. All of the above.
#11A

True statements about autistic disorder
include which of the following?



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
A. Girls outnumber boys in individuals with
autism without mental retardation (MR 75%)
(boy: girls 4-5:1)
B. There is an established and conclusive
association between autism and upper
socioeconomic status.
C. Prevalence rates may be as high as 1
in 1000 children.
D. Abnormalities in functioning must be
present by age 2 to meet DSM-IV-TR
diagnostic criteria.
E. All of the above.
#12
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True statements about the role of genetics in
autistic disorder include which of the following:

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A. Twin studies indicate only moderate
concordance for monozygotes.
B. Family studies show a prevalence of
approximately 2 to 3% of autism among siblings of
children with autism.
C. Unaffected siblings are not at increased risk for
language problems.
D. It is clear that what is inherited is a specific
predisposition to autistic disorder.
E. The role of genetic factors in autistic disorder is
not well established.
#12A

True statements about the role of genetics in
autistic disorder include which of the following:


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


A. Twin studies indicate only moderate
concordance for monozygotes. (high, not moderate)
B. Family studies show a prevalence of
approximately 2 to 3% of autism among
siblings of children with autism.
C. Unaffected siblings are not at increased risk for
language problems. (elevated rates of cognitive
disorders in non-autistic twin)
D. It is clear that what is inherited is a specific
predisposition to autistic disorder.
E. The role of genetic factors in autistic disorder is
not well established.
Rett’s Disorder (Andreas Rett
1966)

All of the following are required:



1. Apparently normal prenatal and
perinatal development
2. Apparently normal psychomotor
development through the first 5
months after birth
3. Normal head circumference at birth
Rett’s Disorder cont.

Onset of all of the following after the period of
normal development:





1. Deceleration of head growth between ages 5
and 48 months
2. Loss of previously acquired purposeful hand
skills between ages 5 and 30 months with the
subsequent development of stereotyped hand
movements (e.g. hand-wringing or hand washing)
3. Loss of social engagement early in the course
4. Appearance of poorly coordinated gait or trunk
movements
5. Severely impaired expressive and receptive
language development with severe psychomotor
retardation
Rett’s Disorder cont
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Prevalence rate: 1/ 15000 – 22 000 females
26% incidence of sudden and unexpected
death
X-linked dominant mutation with lethality in
hemizygous males
Mutation in the transcription regulatory gene
MECP2
Stages:



Normal prenatal/perinatal development
Period of developmental stagnation
Gradual, insidious delay in development,
decelerated head and body growth, lack of interest
in the environment, loss of previously acquired skills
(purposeful hand movements)
Rett’s Disorder cont

Developmental plateau (school age)
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
Severe MR
Seizures
Motor problems
Breathing difficulties (breath-holding spells, air
swallowing)
Bruxism
Scoliosis
Final phase

Nonambulatory secondary to motor problems,
scoliosis
#13

Rett’s disorder





A. Is seen only in boys
B. Does not involve motor
abnormalities
C. Is associated with normal
intelligence
D. Shows no loss of social skills.
E. None of the above
#13A

Rett’s disorder





A. Is seen only in boys
B. Does not involve motor
abnormalities
C. Is associated with normal
intelligence
D. Shows no loss of social skills.
E. None of the above
Childhood Disintegrative Disorder
(Heller 1908)


Apparently normal development for at
least the first 2 years after birth as
manifested by the presence of ageappropriate verbal and nonverbal
communication, social relationships, play
and adaptive behavior
Clinically signif. loss of previously
acquired skills (before age 10) in > areas:


Expressive or receptive language
Social skills or adaptive behavior
Childhood Disintegrative Disorder
cont.




Bowel or bladder control
Play
Motor skills
Abnormalities of functioning in at least 2
areas:



Qualitative impairment in social interactions
Qualitative impairment in communication
Restricted, repetitive and stereotyped patterns
of behavior, interests and activities, including
motor stereotypies and mannerisms
Childhood Disintegrative Disorder

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Prevalence: 1.7 per 100 000
Presence of a period of normal
development before the onset of the
deterioration and loss of skills
Typical age of onset 3 to 4 y old
Very rare, strong male predominance
Deterioration in self-help and motor skills
is often marked
Apparently normal fife expectancy
Has been associated with metachromatic
leukodystrophy, Schilder’s
leukoencephalopathy
Asperger’s Disorder

Impairment in social interactions




Marked impairment in the use of multiple
nonverbal behaviors such as eye-to-eye gaze,
facial expression, body postures, and gestures
to regulate social interaction
Failure to develop peer relationships
appropriate to developmental level
A lack of spontaneous seeking to share
enjoyment, interests or achievements with
other people
Lack of social or emotional reciprocity
#14

Asperger’s disorder is characterized
by delays in





A.
B.
C.
D.
E.
Self-help skills
Curiosity about the environment
Nonverbal communication
Receptive language
None of the above.
#14A

Asperger’s disorder is characterized
by delays in





A.
B.
C.
D.
E.
Self-help skills
Curiosity about the environment
Nonverbal communication
Receptive language
None of the above.
Asperger’s Disorder



Restricted repetitive and stereotyped
patterns of behavior, interests and
activities
There is no clinically significant general
delay in language
There is no clinically significant delay in
cognitive development or in the
development of age-appropriate self-help
skills, adaptive behavior (other than in
social interactions) and curiosity about
the environment in childhood
Asperger’s Disorder cont.






Prevalence estimated to 1 in 10 000
More prevalent in males than females,
ratio of 9 to 1
Normal language development but their
facial expression, prosody and social
gestures are often deficient.
Lack “intuitive knowledge” of how to
approach others.
Delayed motor milestones, motor
clumsiness
Have to learn social skills through their
intellect
Evaluation

History



Psychiatric examination of the child
Medical evaluation




Pregnancy, neonatal and developmental hx,
medical hx, family and psychosocial factors,
intervention hx.
Physical exam, including neurological exam
 Audiological/visual exam
Psychological evaluation
Speech/language/communication assessment
OT evaluation
Differential Diagnosis




Various PDDs
MR not associated with PDD
Specific developmental disorder,
e.g. language
Early onset psychosis
Treatment Plan






Multimodal
Establish goals for educational interventions
Establish target symptoms for intervention
Prioritize target symptoms and/or co-morbid
conditions
Monitor multiple domains of functioning
(behavioral adjustment, adaptive skills,
academic skills, social/communicative skills,
social interactions)
Monitor pharmacological interventions for
efficacy and side-effects.
Potential Targets for
Pharmacotherapy






Motor hyperactivity
Inattention
Repetitive behavior
Motor and/or vocal tics
Aggression
Self-injury
#15






A. Autistic disorder
B. Childhood
disintegrative disorder
C. Pervasive
developmental
disorder NOS
D. Asperger’s Disorder
E. Rett’s disorder



- Normal development
for the 1st 6mo, followed
by a progressive
encephalopathy:
A better prognosis than
other PDD because of
the lack of delay in
language and cognitive
development
Some but not all the
features of autistic
disorder
Occurrence at a rate of 2
to 10 per 10 000 and
impairment in social
interaction,
communication
(language or symbolic
play) before age 3
#15A





A. Autistic disorder
B. Childhood
disintegrative disorder
C. Pervasive
developmental
disorder NOS
D. Asperger’s Disorder
E. Rett’s disorder




- Normal development
for the 1st 6mo, followed
by a progressive
encephalopathy: E
A better prognosis than
other PDD because of
the lack of delay in
language and cognitive
development: D
Some but not all the
features of autistic
disorder C
Occurrence at a rate of 2
to 10 per 10 000 and
impairment in social
interaction,
communication
(language or symbolic
play) before age 3 A
#16

Which of the following chromosomal
abnormalities is most likely to cause
mental retardation?





A. Extra chromosome 21 (trisomy 21)
B. Fusion of chromosomes 21 and 15
C. XO Turner’s syndrome
D. XXY Kinefelter’s syndrome
E. XXYY and XXXY Klinefelter’s
syndrome variants
#16A

Which of the following chromosomal
abnormalities is most likely to cause
mental retardation?





A. Extra chromosome 21 (trisomy
21)
B. Fusion of chromosomes 21 and 15
C. XO Turner’s syndrome
D. XXY Kinefelter’s syndrome
E. XXYY and XXXY Klinefelter’s
syndrome variants
#17

The prognosis of autistic disorder is most
accurately described by which of the following
statements?





A. The prognosis is good if the onset of the illness
is at birth
B. The prognosis is good if the child has normal
auditory evoked potentials
C. The prognosis is determined by language
development
D. The prognosis is bad if either of the child’s
parents has manic-depressive illness
E. None of the above
#17A

The prognosis of autistic disorder is most
accurately described by which of the following
statements?





A. The prognosis is good if the onset of the illness
is at birth
B. The prognosis is good if the child has normal
auditory evoked potentials
C. The prognosis is determined by language
development
D. The prognosis is bad if either of the child’s
parents has manic-depressive illness
E. None of the above
#18

All of the following statements concerning
autistic disorder are true EXCEPT





A. Incidence appears to be highest in upper
socioeconomic strata
B. It occurs more commonly in boys than in
girls
C. It appears to be a neurologically based
syndrome
D. Mental retardation may or may not occur
E. Grand mal seizures frequently occur
#18A

All of the following statements concerning
autistic disorder are true EXCEPT





A. Incidence appears to be highest in
upper socioeconomic strata
B. It occurs more commonly in boys than in
girls
C. It appears to be a neurologically based
syndrome
D. Mental retardation may or may not occur
E. Grand mal seizures frequently occur
#19

The hallmark feature of autistic
spectrum disorder is:





A. Delayed expressive language
B. Echolalia
C. Functional intelligence quotient in
the superior range.
D. Inability to relate socially.
E. Stereotypy
#19A

The hallmark feature of autistic
spectrum disorder is:





A. Delayed expressive language
B. Echolalia
C. Functional intelligence quotient in
the superior range.
D. Inability to relate socially.
E. Stereotypy
References





http://www.mic.ki.se/Diseases/C16.html
http://medgen.genetics.utah.edu/thumbnai
ls.htm
http://ca.dir.yahoo.com/Health/diseases
Fra X: http://www.fraxa.org
Handbook of Developmental Disabilities SL
Odom, RH Horner, ME Snell, J Blacher eds.
2007 The Guilford Press
References

Child Adol Psych Clin NA 16 (2007)




Fragile X syndrome 663-675
VCFS 677-693
Praeder-Willi 695-708
Fetal alcohol spectrum disorder:
Canadian guidelines for diagnosis
AE Chudley, J Conry, JL Cook, C
Loock, T. Rosales, N LeBlanc CMAJ
Mar 1, 2005 172 (5 suppl) S1-S21
References


Volkmar F, Cook et al 1999. Practice
parameters for the assessment and
treatment of adolescents and adults with
autism and other PDD. J. Am. Acad. Child
& Adol. Psych. 38 (12 suppl): 32S- 54 S
(erratum 2000 39 (7): 938 and 38: 12:
1611- 1615
Mental Retardation: A Review of the Past
10 Years. Part 1. B.H. King et al 1997. J.
Am. Acad. Child Adole. Psych. 36:12, 16561663 (1664 – 1671 for part II)
#20

The most frequent presenting
complaint of parents about their
autistic child is:





A. Their lack of interest in social
interaction.
B. Their lack of usual play skills.
C. Their difficulty tolerating change
and variations in their routines.
D. Delays in the acquisition of
language.
E. Stereotyped movements.
#20A

The most frequent presenting
complaint of parents about their
autistic child is:





A. Their lack of interest in social
interaction.
B. Their lack of usual play skills.
C. Their difficulty tolerating change
and variations in their routines.
D. Delays in the acquisition of
language.
E. Stereotyped movements.
#21

What percentage of autistic
individuals exhibits special abilities
or splinter skills?





A.
B.
C.
D.
E.
Less than 1%
10 %
25 %
50 %
80 %
#21A

What percentage of autistic
individuals exhibits special abilities
or splinter skills?





A.
B.
C.
D.
E.
Less than 1%
10 %
25 %
50 %
80 %
#22

A decline in IQ begins at
appromixately 10 to 15 years in
which of the following disorders?





A.
B.
C.
D.
E.
Down’s syndrome
Fragile X syndrome
Cerebral palsy
Nonspecific mental retardation
Fetal alcohol syndrome
#22A

A decline in IQ begins at
approximately 10 to 15 years in
which of the following disorders?





A.
B.
C.
D.
E.
Down’s syndrome
Fragile X syndrome
Cerebral palsy
Nonspecific mental retardation
Fetal alcohol syndrome
#23

The most common inherited cause
of mental retardation is





A.
B.
C.
D.
E.
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Prader-Willi syndrome
None of the above
#23A

The most common inherited cause
of mental retardation is





A. Down’s syndrome (most common
chromosomal abnormality leading to
MR)
B. Fragile X syndrome (most
common inherited cause of MR)
C. Fetal alcohol syndrome
D. Prader-Willi syndrome
E. None of the above
#24

Mild mental retardation has been
associated with





A.
B.
C.
D.
E.
Nonspecific causes
Prader-Willi syndrome
Females with fragile X syndrome
Poor socioeconomic background
All of the above
#24A

Mild mental retardation has been
associated with





A.
B.
C.
D.
E.
Nonspecific causes
Prader-Willi syndrome
Females with fragile X syndrome
Poor socioeconomic background
All of the above