What is AS?
Angelman Syndrome (AS) is a rare neuro-genetic disorder named after an English paediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. A syndrome is number of features which occur together as a group and indicate a particular condition. AS is characterised by severe intellectual disability, speech impediment, sleep disturbance, unstable jerky gait, seizures and usually a happy demeanour.

Is it difficult to diagnose?
Yes, but with increasing public awareness of the condition and more accurate diagnostic tests, more children are being diagnosed. It is estimated that Angelman Syndrome occurs about one in 20,000 births. Assessing the physical and behavioural features of AS helps in a more accurate diagnosis

The following resources are from Foundation for Angelman Theraputics

What are the diagnostic criteria for Angelman Syndrome?

Genetics 101

Genetic testing for Angelman Syndrome

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