Angelman Syndrome

Angelman syndrome is a chromosomal (gene-linked) disease that causes neurological problems. The physician Harold Angelman first identified 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 begin to have feeding problems at 1-2 months and noticeable developmental delays by 6 to 12 months. Seizures may often begin before the age of 3 years. Speech impairment is pronounced, with little to no use of words. The syndrome is also characterized by hyperactivity, small head size, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome is the result of the deletion or inactivation of a particular series of genes that regulate a protein called ubiquitin (UBE3A) on chromosome 5q11-13. The majority of cases of Angelman syndrome are inherited (via maternal transmission of an abnormal chromosome) but others appear to be the result of genetic mutations from unknown causes. The extent and variety of symptoms vary depending on the specific gene(s) involved.

There is no standard course of treatment for Angelman syndrome. Educational and behaviorial interventions are usually effective in the areas of communication, schooling, sleep disturbances, and general behavior. Physical and occupational therapies, speech and language interventions, behavior modification, and parental training are also helpful.

Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and problems with walking and staying upright. Early diagnosis and tailored interventions and therapies help improve quality of life.

Links to Angelman Syndrome

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