intellectual impairment Flashcards
1
Q
causes of Intellectual disability
A
prenatal- FAS, teratogens perinatal- hypoxia during delivery post natal- toxins infections (esp. meningitis and HIV) trauma
genetic: familial chromosomal- down syndrome x linked specific gene
2
Q
what is fragile X syndrome
A
mutation on chromosome X at the fragile site
3
Q
what is the incidence of fragile X
A
1 in 220
4
Q
features of fragile x
A
mild to severe ID
behavioral phenotype and neurological abnormalities
physical phenotype
5
Q
who is more impaired if they have fragile X
A
males
6
Q
Prader Willi syndrome features
A
short stature
always being hungry
eye lids problem
obesity
7
Q
velocardiofacial syndrome
(microdeletion at 22q11.2 site
features
A
heart, palate and facial malformations hypoparathyroidism, urinary system abnormalities hematological problems thymic hypoplasia language and motor delays
8
Q
incidence of VCF syndrome
A
1 in 3000 births
9
Q
behavioral phenotype of VCF syndrome
A
poor social skills
psychotic disorder
bipolar disorder
ADHD
10
Q
Tuberous sclerosis complex
features
A
facial skin lesion
