About Angelman Syndrome
Angelman Syndrome (or AS) is a neurodevelopmental disorder characterized by global developmental delays and severe speech impairment. AS is caused by the lack of function of one specific gene, called UBE3A. Individuals with AS tend to have a happy demeanor, characterized by frequent laughing, smiling and excitability.Individuals with AS have developmental delay and varying degrees of intellectual disabilities. A few individuals with AS develop functional speech but most communicate through a mixture of gestures, eye gaze, adapted sign language and augmentative communication devices.
Individuals with AS also are affected by movement and balance disorder, which ranges from mild to severe. While some children with Angelman walk before age 3, many walk much later and some never achieve independent mobility. The movement disorder can be mild and only affect gait and hamper some fine motor skills, or severe enough to prevent self-help skills like feeding, walking, and dressing.
Most individuals with AS have a seizure disorder (epilepsy) which 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.
For more information on Angelman Syndrome, Research and Hope for a Cure, please visit www.CureAngelman.org.
Funds Raised from this campaign will go to the Foundation for Angelman Syndrome Therapeutics for research towards a cure.