Cornelia de Lange Syndrome Flashcards
1
Q
What is the prevalence of CdLS?
A
1 in 10-40,000 births
2
Q
Describe the physical features.
A
small stature upper limb abnormalities Distinctive facial features Gastroephageal reflux hairy
3
Q
What is the association between pain and SIB in CdLS?
A
Hit where pain is from gastroephageal reflux
4
Q
What is unusual about SIB?
A
They also restrain themselves to prevent SIB
5
Q
What is the genetic basis of CdLS?
A
- 60%: short arm chromosome 5: 5p 13.1
- 1% SMC3 gene choromosome 10
- 5% X linked SMC1, HPAC8 and RAD21 genes
6
Q
What is the range of ID?
A
50% profound, to 11% mild.
7
Q
What is the prevalence of autism in CdLS?
A
50-67%
8
Q
What did Moss et al. (2013) find to be the same in CdLS and autism?
A
No difference on social interaction., but no similarity of repetitive behaviours
9
Q
What is interesting about Social anxiety in CdLS?
A
- high anxiety in social situations
- preference to observe
- motivation intact
- increased withdrawal with increased social demands
10
Q
What age changes are apparent in CdLS?
A
- premature greying
- changes in face
- increased behavioural and emotional difficulties
11
Q
What age did Nelson (2010) find a significant increase in impairment?
A
16-21y
