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Angelman Syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speech problems, balance and movement problems, seizures, and sleep problems. Children are usually happy in nature and have a particular interest in water. The symptoms generally become noticeable by one year of age.
Angelman syndrome is due to a lack of function of part of chromosome 15 inherited from a person's mother. Diagnosis is based on symptoms and possibly genetic testing. No cure is available. Treatment is generally supportive in nature. Anti-seizure medications are used in those with seizures. Physical therapy and bracing may help with walking. Those affected have a nearly normal life expectancy.
AS affects 1 in 12,000 to 20,000 people. Males and females are equally frequently affected. It is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965. Prader-Willi syndrome is a separate condition, caused by a similar loss of the father's chromosome 15.
Those with the syndrome are generally happy and contented people who like human contact and play. People with AS exhibit a profound desire for personal interaction with others. Communication can be difficult at first, but as a child with AS develops, there is a definite character and ability to make themselves understood. People with AS tend to develop strong non-verbal skills to compensate for their limited use of speech.
Speech and Language Therapy is commonly employed to assist individuals with Angelman syndrome and their communication issues.
It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most affected people will not develop more than 10 words, if any at all.