ASD/DD Flashcards
Incidence of ASD
1 in 36
Three domains of ASD
Impaired social relationships
Repetitive behaviors or a narrow range of interest
impaired language and communication
Red flags ASD/DD
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
Recurrence risks if one sibling
3-10%
Recurrence risk if two siblings
33-50%
IQ for ID
70-75
Features of 22q11.2
Congenital heart disease
CL/CP
Learning difficulties
Immune deficiency
Hypocalcemia and hypoparathyroidism
Psychiatric concerts late in life
de novo rate for 22q11.2
93%
Features of Fragile X
ID/DD nearly 100% in boys
Autism 50-70%
Craniofacial features
Hypotonia, reflux, sleep disorders, joint laxity
Seizures
MOI + Gene with Fragile X
FMR1
CGG (200+ full mutation)
MOI: X-linked
Cowden syndrome cancers
Breast
Uterine
Colon
Thyroid
Renal
Cowden syndrome gene/MOI
PTEN; AD
Cowden syndrome features
Macrocephaly + Autism think PTEN
Hematomas
Cerebellum tumor
16p11.2 deletion and duplication
Speech/learning/ language delay
Autism
Low muscle tone
Seizure disorder
Features vary
