Angelman syndrome

Angelman Syndrome is a genetic neurological disorder associated with mental delay and characteristic facial appearance and behavior. It is caused by an abnormality on Chromosome 15, and affects approximately 1 in 20,000 individuals.

Angelman Syndrome is most often diagnosed by a pediatric neurologist or geneticist. Children are usually diagnosed between ages 3 and 7, when the characteristic features become more evident.

The main characteristics of Angelman Syndrome include gait and movement disorders (jerky motions, difficulty walking); seizures; hyperactivity; excessive laughter; very happy disposition; communication disorder (inability to speak, but some comprehension; nonverbal language skills can vary greatly, with some children learning sign language); mental retardation, from mild to moderate; sleep disorders; feeding problems; and hypopigmentation (deficiency in skin color). Not all characteristics need to be present to obtain a positive diagnosis of Angelman Syndrome.

Because of severe developmental delays, children with AS need a full range of early training and enrichment programs, including physical therapy and speech and communication therapy focusing on non-verbal methods. Young adults with AS are usually socially adept and respond to most personal cues and interactions. Because of their interest in people, they establish friendships, participate in group activities and enjoy recreational activities. A secure home and consistent behavioral intervention and stimulation will help them reach their potential.

For more information:
Angelman Syndrome Foundation
800-IF-ANGEL
www.angelman.org

International Angelman Syndrome Organisation
www.asclepius.com/iaso

Family Village
www.familyvillage.wisc.edu/lib_angl.htm

07/04