Rett/Williams Syndromes Flashcards
1
Q
What is the prevalence of Rett Syndrome?
A
1 in 10,000
2
Q
What genetic cause is implicated in Rett syndrome?
A
MeCP2 gene on the long arm of X chromosome
3
Q
Which gender is affected by RS?
A
Females
4
Q
What happens between 6-18m then after 18 months?
A
Normal development, then sudden drop in IQ
5
Q
What are some features of behaviours in Rett Syndrome?
A
- Autistic behaviours
- hand wringing
- rapid stereotyped movements
6
Q
What is the genetic basis for Williams Syndrome?
A
Deletion of long arm of chromosome 7
7
Q
How prevalent is WS?
A
1 in 20,000
8
Q
What are the physical features of WS?
A
Broad features full cheeks puffy under eyes prominent ear lobes hyperextensible joints decreased muscle tone strabismus: having a squint hyperacusis
9
Q
What are the enhanced domains of WS?
A
Vocabulary
Linguistic affect
Facial recognition
10
Q
What are the impaired domains of WS?
A
Visual spatial functioning
Perceptual planning
