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Supporting Families who have Children with Angelman Syndrome |
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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? The following resources are from Foundation for Angelman TheraputicsWhat are the diagnostic criteria for Angelman Syndrome?Genetics 101Genetic testing for Angelman Syndrome
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Last Update 26/10/2009
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