ASD

Question 1

Rett’s DO:
Describe?
Mutation?

Answer 1

girls, have normal development in infancy, then before age 4:
head circumference decelerates
normal hand movements lost
mannerisms appear
genetic mutationinMeCP2

Question 2

Childhood disinigrative DO

Answer 2

2 years or more of normal development
then at age 3-4, loss of skills in 2 areas
end up resembling severe autism

Question 3

Prevalence of ASD

Answer 3

Stern: 1/68!!!
the in press 2014 GL: 10/10,000
Asperger's is more rare:3/10,1000
4 times morecommonin males
girls have more severe IQ probs

Question 4

2 predictors of prognosis

Answer 4

cognitive abilities

language at age 5

Question 5

neurological markers

Answer 5

increased brain size
serotonin elevated (consistent finding)
white matter tract abnormal
limbic system abnormalities

Question 6

RF for autism

Answer 6

genetic: siblings have 10-20% risk
closely spaced pregnancies
extreme prematurity
paternal and maternal age (important)

Question 7

4 items on ADI that differentiate Dev delay from autism

Answer 7

joint attention (showing), attention to voice, pointing, finger mannerisms

Question 8

percent and type of Intellectual disability in ASD

Answer 8

50% of ASD have severe MR
30: mild-mod
20% normal range
verbal worse than non verbal
reverse sometimes seen with Aspergers

Question 9

Medical evaluation in ASD work up

Answer 9

History 
physical exam
wood's lamp (for TB)
hearing screen
genetic testing: CMA+fragile X
can also do karyotype but CMA better?
yield is 25%
goes up to 33% if there are clinical features suggesting genetic dis

Question 10

Medical DDX in ASD

Answer 10

encephalitis, hypothyroidism ,homocystinuria, TBI, Fetal Al synd, chromosomal dis
**Landau-Kleffner syndrome: distinctive EEG, aphasia, developmental DO

Question 11

psychosocial interventions for ASD

Answer 11

ABA=applied behavioural analysis
EIBI +early intensive behavioural intervention is a form of ABA
40 hrs per wk one on one

communication eg:PECS=picture exchange communication system

Education: IED, eg: ESDM=early start denver model

CBT for anxiety and anger management

Question 12

meds FDA approved in ASD

Answer 12

Risperidone, aripiprazole for irritability (physical aggression and tantrums) better to combine with parent training.

Question 13

alternative treatments in ASD

Answer 13

most of them have no evidence and little risk.
some carry risk : chelation
trials show no support for special diets, B6, Mg

Note: WE should ASK about these in assessment