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Survey of Human Genetic Disorders First Half > Autism > Flashcards

Autism Flashcards

1
Q

What is the prevalence of autism?

A

1 in 59 in children ages 8 years

Boys 4x more likely

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2
Q

What percentage of children with autism have ID (IQ < 70)?

A

31% of children

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3
Q

What maternal medications are associated with autism?

A

Valproate, thalidomide, misoprostol
Antidepressants
Anti-convulsant medications

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3
Q

What maternal medications are associated with autism?

A

Valproate, thalidomide, misoprostol
Antidepressants
Anti-convulsant medications

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4
Q

What infections are associated with autism?

A

Rubella and TORCH

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5
Q

What are perinatal factors in autism?

A

Extreme Prematurity (<26 weeks gestation)
Gestational diabetes
Maternal hemorrhage
Viral infections – trigger immune response, increased IL-6
Umbilical cord complications
Fetal presentation
Fetal distress
Birth injury/trauma
Summer birth
Low birth weight
Low 5 minute Apgar
Meconium aspiration
Neonatal anemia and hyperbilirubinemia

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6
Q

The concordance for strict autism in monozygotic males/females is?

A

males 58%/females 60%

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7
Q

The concordance for strict autism in dizygotic males/females is?

A

21%/females 27%

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8
Q

What percentage of autism is caused by CNVs?

A

7-20%

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9
Q

What percentage of autism is caused by single-gene disorders?

A

5-7%

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10
Q

What percentage of autism is unknown cause?

A

> 70%

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11
Q

What percentage of autism is “essential” or lack of physical abnormalities?

A

70%

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12
Q

What is the incidence of autism in Down syndrome?

A

16.5%

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13
Q

What is the incidence of autism in 22q11.2 deletion syndrome?

A

20%

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14
Q

What percentage of autism cases are caused by Fragile X?

A

1-5%

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15
Q

What are the features of Fragile X in males?

A

Slightly increased birth weight
Average height in childhood
Macrocephaly
Long face; large ears – not all cases
Macro-orchidism – post pubertal
Lax joints; velvety skin
MVP/Aortic dilatation – post pubertal
Developmental delay/Autism (50-70%) or autistic behaviors
Periventricular heterotopia and other neuroradiologic abnormalities

16
Q

What are the features of Fragile X in females?

A

Heterozygous for full mutation

Milder Physical Features
Prominent ears
Long, narrow face
High arched palate
Hyperextensible joints
Double-jointed thumbs
Single palmar crease
Flat feet
Murmur or systolic click
Milder developmental issues

Carriers may have mild symptoms, depression, POI

17
Q

What are the features of Phelan-McDermid syndrome?

A

Neonatal hypotonia
Normal to accelerated growth
Absent or severely delayed speech
Global developmental delay
Normal head circumference
Minor dysmorphic facial features
Full brow, flat midface , ptosis, puffy eyelids, long eyelashes, wide nasal bridge, bulbous nose, puffy cheeks,
pointed chin, large/prominent ears
Autistic behaviors
Mouthing or chewing non-food items decreased pain perception

18
Q

What is the genetic cause of Phelan-McDermid syndrome?

A

Microdeletion chr 22q13.3 (80%)
Intragenic deletion of SHANK3

19
Q

What is the most common del/dup that causes autism?

A

16p11.2 del/dup most common - accounts for 1.1-1.2% of cases

20
Q

How is autism thought to affect the brain?

A

Analysis supports the hypothesis that autism is primarily a disease of synaptic and neuronal connectivity malfunction.

21
Q

What are first-tier genetic tests in non-dysmorphic autism?

A

CMA and Fragile X

22
Q

What is second tier genetic testing in autism?

A

MeCP2 sequencing in females
MeCP2 duplication in males
PTEN testing if HC >2.5 SD

Autism/ID gene panel

23
Q

What is recurrence risk of having a second child with autism?

A

10-15%

24
Q

What is recurrence risk of having a third child with autism (if subsequent child is boy/girl)?

A

50% if the subsequent child is boy and 12% if the child is a girl

Survey of Human Genetic Disorders First Half (16 decks)

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