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Angelman syndrome is caused by a genetic mutation on chromosome 15. The name of this gene is UBE3A. Normally, people inherit one copy of the gene from each parent, and both copies become active in many areas in the body. Angelman syndrome occurs when only one copy of the gene is active in certain areas of the brain.
There are no known risk factors for Angelman syndrome. In some cases, a family history may increase the chances of a baby having the disorder but the disease is rare, occurring in just 1 of every 10,000 people. If you already have a child with Angelman syndrome or are concerned about a family history, talking with your doctor or a genetic counselor may be helpful.
Children with Angelman syndrome tend to have some, but not necessarily all, of the following behaviors and characteristics:
Children with Angelman syndrome may have feeding difficulties, sleep problems and hyperactivity.
People with Angelman syndrome have almost normal life spans. Adults are not usually able to live on their own but can learn basic household tasks and can live in group homes. Some individuals can have jobs in which they are supervised directly.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”