Angelman syndrome Flashcards
What is Angelman syndrome?
Angelman syndrome is 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.
Features of Angelman syndrome?
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
TOM TIP: The novel features to remember and link with Angelman syndrome so you can spot it in your exams is the unusual fascination with water, happy demeanour and widely spaced teeth.
Management of Angelman syndrome?
Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and carers holistically.
Parental education Social services and support Educational support Physiotherapy Occupational therapy Psychology CAMHS Anti-epileptic medication where required
