Genetics - Angelman's syndrome Flashcards
1
Q
Definition
A
Genetic condition caused by loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother.
This can be caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.
2
Q
Signs and symptoms
A
- Delayed development and learning disability
- Severe delay or absence of speech development
- Coordination and balance problems (ataxia)
- Fascination with water
- Happy demeanour
- Inappropriate laughter
- Hand flapping
- Abnormal sleep patterns
- Epilepsy
- Attention-deficit hyperactivity disorder
- Dysmorphic features
- Microcephaly
- Fair skin, light hair and blue eyes
- Wide mouth with widely spaced teeth
3
Q
Main signs which you’ll see in exam questions
A
- Unusual fascination with water,
- Happy demeanour
- Widely spaced teeth.
4
Q
Treatment
A
No cure
MDT support:
- Parental education
- Social services and support
- Educational support
- Physiotherapy
- Occupational therapy
- Psychology
- CAMHS
- Anti-epileptic medication where required
