What is Angelman Syndrome ?
Angelman Syndrome is a neuro-genetic disorder characterized by global developmental delays and severe speech impairment. Individuals with Angelman Syndrome have a movement/balance disorder, most have a seizure disorder which can be difficult to treat, and many need very litle sleep when young. Most ‘angels’ are usually very sociable, love water, and display a happy demeanour.
Dr Harry Angelman (an English paediatrician) first recognised the occurrence of these characteristics in 3 children in the 1960’s, and published a medical paper about what he had observed. It was however not until the early 1990s, that genetic testing was developed for Angelman Syndrome.
Angelman Syndrome is caused by a severe reduction of expression of the UBE3A gene in the brain.
Angelman Syndrome affects males and females of all racial/ethnic groups equally. The prevalence of Angelman Syndrome in individuals is between 1 in 15 /20,000
More detailed resources about Angelman Syndrome:
Presentation by Dr Ellie Smith: What is Angelman Syndrome
- What is Angelman Syndrome? What causes Angelman Syndrome? (FAST)
- Facts About Angelman Syndrome – 7th Edition - ASF (USA)
- How To Test for Angelman Syndrome ASF (USA)
- Management of Angelman Syndrome – A Clinical Guideline – (UK) in PDF format
- A to Z of Angelman Syndrome
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