Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. 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 with Angelman syndrome to reach their maximum developmental potential.
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
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Angelman Syndrome Foundation
Works to advance awareness and treatment of Angelman Syndrome through education and information, research, and support.
The Arc of the United States
Promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.
Prader-Willi Syndrome Association
Serves as an international vehicle of communication about Prader-Willi syndrome (PWS), a genetically based developmental disability. Provides to parents and professionals a national and international network of information, support services, and research endeavors to meet the needs of affected children and adults and their families.
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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke (NINDS). This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 250 identified neurological disorders.