Angelman syndrome is a genetic disorder that primarily affects the nervous system and causes delayed development, intellectual disability, speech impairment and problems with movement and balance. Other common signs and symptoms may include seizures, a small head size, unusually fair skin, light-colored hair, scoliosis, an excitable demeanor, frequent laughing or hyperactivity. It affects approximately one in 20,000 people.
Angelman syndrome is usually detected once a baby reaches six to 12 months or is old enough for the developmental delays to become noticeable. There is no known cure for the syndrome, but there are several treatments that may assist in development or functioning. Treatment options include anti-seizure medication which is helpful in controlling and preventing seizures, physical therapy for help with walking and movement, communication therapy to help the individual learn how to express themselves if they are unable to talk and behavioral therapy to help overcome some of the hyperactivity or inability to focus.
Every person with Angelman syndrome has a different level of development and ability. Often people with this syndrome have difficulty walking and balancing. Many are never able to speak, but learn to communicate in other ways. Generally people with Angelman syndrome do not progress intellectually or cognitively beyond the level of a toddler or young child. Recurrent seizures can also be a challenge, though they often improve by the time the child reaches adolescence. Children with the syndrome often appear very happy and excitable, can be quite hyperactive and have difficulty sleeping. These symptoms will usually reduce by adolescence as well. Older adults with the syndrome may experience stiffening of the joints and are at a higher risk for obesity. People with Angelman syndrome usually require lifelong care.
There are several organizations that fund research and provide information and support to those living with Angelman syndrome. There are also support groups available for the family and friends of individuals with the syndrome to connect with one another.