Angelman Syndrome Project

2012

Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. Infants appear typical at birth but often have feeding problems and exhibit developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced. Individuals often display hyperactivity, small head size, sleep disorders, and movement and balance disorders. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother. There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals to reach their maximum developmental potential. http://kc.vanderbilt.edu/site/topics/86/angelman-syndrome.aspx

Angelman syndrome, genetic disorder, rare disease

Performing Research or Evaluation

Education & Early Intervention, Health-Related Activities, Quality of Life

Professionals and Para-Professionals, Family Members/Caregivers, Children/Adolescents with Disabilities/SHCN

Specific Groups

National

Federal

N/A