Angelman Syndrome (often abbreviated AS) is a severe neurological disorder characterised by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech. The seizure disorder in individuals with AS can be difficult to treat. Feeding disorders in infancy are common and some persist throughout childhood. Sleeping difficulties are commonly noted in individuals with AS. Angelman Syndrome affects all races and both genders equally.
Individuals with AS tend to have a happy demeanor, characterised by frequent laughing, smiling and excitability. Many individuals with AS are attracted to water and take great pleasure in activities like swimming and bathing. To see a full list of diagnostic criteria for AS click here.
People living with AS require life-long care, intensive therapies to help develop functional skills and improve their quality of life, and close medical supervision often involving multiple medical interventions. Angelman Syndrome may be misdiagnosed since other syndromes have similar characteristics. To see a list of other syndromes that can be mistaken for AS click here.
Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the Ube3a gene in the brain. Loss of the UBE3A enzyme produced by this gene prevents neurons from functioning correctly, leading to deficits in learning and memory. Importantly, loss of UBE3A does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function is restored. To see why there is hope for a cure click here.
Want more information on the genetics of Angelman Syndrome and what all those medical terms mean?
Please see our Genetics Facts Sheet here.
