Misc causes of LD Flashcards
1
Q
Cornelia de Lange
A
- v. rare: 1/10.000
- due to spontaneous genetic mutations
- multiple genes are associated
- NIPBL gene on chromosome 5 is often implicated
2
Q
Features of Cornelia de Lange
A
- moderate to severe LD
- low birth weight
- small stature
- developmental delay
- microcephaly
- hypertrichosis
- long philtrum
- small nose
- downturned lips
- low set ears
- smallhands and feet
3
Q
Behavioural problems in Cornelia de LAnge
A
- self stimulation
- aggression
- self injury
- similar features to autism
4
Q
Foetal alcohol syndrome
A
- due to alcohol exposure in prenatal period
- no safe level of alcohol consumption
- 1/100 children affected
- associated with mild LD
5
Q
Congenital hypothroidism
A
- 1/4000
- more common in girls
- low thyroid hormones
- causes puffy face, large tongue, dry hair, constipation, low muscle tone, failure of cognitive development and LD
6
Q
Epilepsy in LD
A
- prevalence of epilsepsy in LD population is 20-25%
- LD is resent in 30-40% of people with epilepsy
7
Q
Epilepsy in Downs
A
-5-10%
8
Q
Epilesy diagnosis
A
- often misdiagnosed
- can appear as aggression, rapid eye blinking, attention deficits, lethargy
9
Q
Epilepsy and fragile X
A
-25% of people with fragile X have epilepsy
10
Q
Epilepsy and Angelmans
A
-90%
11
Q
Epilepsy and Retts
A
-90%
12
Q
Infantile Spasms
A
- occur at the age of 4-6 months
- 90% of cases are during the first year of life
- looks like the Moro reflex ( raising of both arms and legs)
- EEG is chaotic with slow waves of mmixed voltage with diffiuse or asynchronous spikes (hypsarrhythmia)
13
Q
Number of people with good control of epilepsy
A
-in LD 70%
14
Q
West syndrome
A
- infantile spasms
- hypsarrthymias
- LD
15
Q
Lennox Gestaut syndrome
A
- associated with LD and epilepsy
- EEG shows multiple spikes
- prognosis is poor
