What is Angelman Syndrome?
Angelman Syndrome (often abbreviated AS) is a severe neurological disorder characterized 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 Angelman Syndrome can be difficult to treat. Feeding disorders in infancy are common, and some persist throughout childhood. Sleeping difficulties are commonly noted in individuals with Angelman Syndrome. AS affects all races and both genders equally.
Individuals with Angelman Syndrome tend to have a happy demeanor, characterized by frequent laughing, smiling and excitability. Many individuals with Angelman Syndrome are attracted to water and take great pleasure in activities like swimming and bathing
People living with AS require life-long care, intense 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.
Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the Ube3a gene in the brain. Loss of Ube3a 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.
