ASD/DD

Question 1

Incidence of ASD

Answer 1

1 in 36

Question 2

Three domains of ASD

Answer 2

Impaired social relationships
Repetitive behaviors or a narrow range of interest
impaired language and communication

Question 3

Red flags ASD/DD

Answer 3

No smiles by 6 m
No back and forth of sounds by 9 m
No babbling by 12 m
No back and forth gestures by 12 m
No words by 16 m
No two words by 24m
ANY LOSS/REGRESSION OF SPEECH/ SKILLS

Question 4

Recurrence risks if one sibling

Answer 4

3-10%

Question 5

Recurrence risk if two siblings

Answer 5

33-50%

Question 6

IQ for ID

Answer 6

70-75

Question 7

Features of 22q11.2

Answer 7

Congenital heart disease
CL/CP
Learning difficulties
Immune deficiency
Hypocalcemia and hypoparathyroidism
Psychiatric concerts late in life

Question 8

de novo rate for 22q11.2

Answer 8

93%

Question 9

Features of Fragile X

Answer 9

ID/DD nearly 100% in boys
Autism 50-70%
Craniofacial features
Hypotonia, reflux, sleep disorders, joint laxity
Seizures

Question 10

MOI + Gene with Fragile X

Answer 10

FMR1
CGG (200+ full mutation)
MOI: X-linked

Question 11

Cowden syndrome cancers

Answer 11

Breast
Uterine
Colon
Thyroid
Renal

Question 12

Cowden syndrome gene/MOI

Answer 12

PTEN; AD

Question 13

Cowden syndrome features

Answer 13

Macrocephaly + Autism think PTEN
Hematomas
Cerebellum tumor

Question 14

16p11.2 deletion and duplication

Answer 14

Speech/learning/ language delay
Autism
Low muscle tone
Seizure disorder
Features vary