Angelman syndrome is a complex genetic disorder that causes developmental and neurological problems, such as severe speech impairment and trouble walking and balancing (ataxia).
- Affects about 1 in 10,000 people
- People with Angelman syndrome are usually happy and affectionate and may laugh often and at inappropriate times
- Affected people may also have epilepsy
- Is often associated with low levels of pigment in skin, hair and eyes
- Treatment focuses on the behaviors associated the disorder
Angelman syndrome at Boston Children's Hospital
- Researchers have studied children with Angelman syndrome to determine the highest dose of a new drug that can be given without causing serious side effects. It's thought that this drug can help control some of the neurological and movement difficulties associated with the disorder, such as tremors.
- Another group of researchers is investigating whether the vitamin supplements folic acid and betaine can lessen some of the symptoms of Angelman syndrome by increasing the activity of the gene involved in the disorder.