Autism & Intellectual Disability

Question 1

Tests to aid in etiology of intellectual disability

Answer 1

Whole exome sequencing, fragile X testing, imaging, EEG, history, physical exam

Question 2

Fragile X Syndrome
Cause
Phenotype

Answer 2

Mutation in FMR1 gene.
Most common inherited cause of ID.
Phenotype is difficult to pick up. Long, narrow face, high forehead, prominent ears, strong jaw, macrocephally (large head), tall, macroorchidism

Question 3

Rett Syndrome
Cause
Population
Sxs

Answer 3

• Due to MECP2 mutation. X linked.
• Vast majority are girls
• Normal development for first couple years but then lose these skills.
• NOT neurodegenerative
• Hand wringing / clapping is common.
• Post-natal microcephaly

Question 4

Gender in autism

Answer 4

4-5x more boys than girls.

Question 5

What percentage of kids w/ ASD have ID?

Answer 5

50-75%

Question 6

3 core impairments of ASD

Answer 6

Problems with reciprocal social interactions, social uses of communication, and limited range of interests associated w/ repetitive behaviors.

Question 7

Social characteristics of ASD (5)

Answer 7

Impaired eye contact or use of gestures, impaired peer interactions, lack of “sharing” of experiences / discoveries / accomplishments, lack of “give and take” in social relationships.

Question 8

Communication problems in ASD (6)

Answer 8

Delay in development of spoken language w/o compensating by gesture or mime, impaired conversation, echolalia (no purpose to words), You / I pronoun reversals, jargon, lack of make-believe or pretend play.

Question 9

Behavioral characteristics of ASD (7)

Answer 9

Passion / obsession w/ one or very few things, nonfunctional routines or rituals (may get very upset if rituals are disrupted), may line up toys, hand flapping, toe walking, finger movements, persistent preoccupation w/ wheels / doors / switches.

Question 10

Co-morbidities w/ ASD (6)

Answer 10

Seizures (30%), pica (may lead to elevated lead levels), constipation, feeding problems, psychiatric disorders, sleep disorders.

Question 11

Earl signs of ASD (5)

Answer 11

Extremes of temperament, lack of connectedness, precocious labeling prior to useful language causing parents to say “my child is SO smart”, delayed cooing / babbling / meaningful words despite normal hearing, repetitive / unusual behaviors.

Question 12

Absolute indicators for ASD (4)

Answer 12

• No single, meaningful words by 16 months. Should at least have mama / dada.
• No communicative gestures by 12 months
• No flexible 2 word phrases by 2 years
• Any loss of any social or language skill at any age (regression).

Question 13

What causes tuberous sclerosis?

Answer 13

Mutation in TSC1 or TSC2

Question 14

Things that increase risk for ASD (5)

Answer 14

Advanced paternal age, maternal rubella, maternal CMV, maternal exposure to thalidomide / valproic acid (antiseizure drug)

Question 15

Treating ASD

Answer 15

• Only evidence based therapy is early intensive behavioral intervention, which involves 20-35 hrs / wk of 1 on 1 therapy.
• Behavioral therapy is used to reduce maladaptive behaviors and reinforce adaptive behaviors.
• Teaching joint attention, use of social skills, treating sensory processing disorders, teaching parents tools to teach children
• Speech therapy
• Occupational therapy to improve motor skills
• Low student-teacher ratio
• Antipsychotic meds – risperidone and aripiprazole
• Melatonin may help sleep disorders. Restless sleep is associated w/ low iron stores, so iron supplementation may also help.