Autism and Intellectual Disability

Question 1

1. List the diagnostic criteria for autism spectrum disorder.

Answer 1

i. Persistent deficits in social communication and social interaction across multiple contexts
1. Deficits in social-emotional reciprocity: abnormal social approach, failure in back and forth convo, failure to initiate or respond to social interactions
2. Deficits in nonverbal communicative behaviors: eye contact, body lang., total lack of facial expressions
3. Deficits in developing, maintaining and understanding relationships

ii. Restricted, repetitive patterns of behavior, interests or activities
1. Stereotyped and repetitive motor movements, use of objects or speech: lining up toys, flipping objects, echolalia (repeating what others say), idiosyncratic phrases
2. Insistence on sameness, adherence to routines, or ritualized patterns of verbal or nonverbal behavior
3. Highly restricted, fixated interests, abnormal in intensity of focus
4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment

iii.Symptoms present in the early developmental period, resulting in clinically significant impairment and not better explained by intellectual disability or global developmental delay

symptoms usually present before age 3, regression in 25% of children

Question 2

2. Describe the three core impairments in children with autism

Answer 2

impaired capacity for reciprocal social interactions (using gestures, not sharing experiences)

affects verbal and nonverbal communications: delay in development of language (you and I pronouns, make believe play, high-pitched vocalizations)

restricted range of interests or repetitive behaviors

Question 3

3. Describe the epidemiology and pathophysiology of autism.

Answer 3

4-5x as many boys than girls affected, advanced paternal age is a risk

pathophysiology: probably the final manifestation of multiple etiology pathways that disrupt neurodevelopment and neural connectivity (high heritability)

prenatal insults including maternal rubella, maternal cytomegalovirus and maternal exposure to thalidomide, maybe maternal use of valproic acid

Question 4

3. Describe the course and prognosis of autism.

Answer 4

prognosis depends on the level of social, cognitive and behavioral impairments but prognosis is generally poor

co-morbidities include seizures, pica, constipation, feeding problems, psychiatric disorders and sleep disorders

despite having average cognitive skills, children may have lower adaptive behaviors

Question 5

4. Recognize the medical etiologies of autism and intellectual disability. (3)

Answer 5

fragile X syndrome: FMR1 gene is the most common inherited cause of intellectual disability

Rett syndrome (MECP2 gene) more common in girls

Tuberous sclerosis (TSC1 and 2)

NOTE: children with normal physical appearance and normal IQ are unlikely to have a medical or genetic etiology of autism

Question 6

5. List the treatments available for autism.

Answer 6

intensive interventions should begin as soon as dx. of autism is seriously considered including

1. speech therapy to promote functional communication
2. occupational therapy to improve motor skills
3. educational interventions in classroom, high structure, low student to teacher ratio

evidence based intervention: early intensive behavioral intervention 20-35 hr/week

atypical antipsychotics for challenging and repetitive behaviors: risperidone and aripiprazole

melatonin for sleep disorder, iron supplements for restless children