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Journal of Congenital Disorders

Angelman Syndrom

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Angelman Syndrom

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Angelman Syndrome is a genetic disorder in which a gene on chromosome 15 is missing or unexpressed. Children with Angelman Syndrome typically have developmental delays that are frequently evident between 6-12 months of age Diagnosis can be established through genetic and DNA testing as early as the first year of life. In affected children, language comprehension and non-verbal skills are usually more developed than spoken language and the affected child may have few if any words. Children with Angelman Syndrome have difficulties with movement and balance. Their behavior may combine frequent laughter and smiling, an easily excitable personality, hand flapping movements, hyperactive behavior, and a short attention span. Associated physical features and concerns, such as seizures, movement problems, hypopigmentation, sleep and feeding problems, are present in about 20-80% of children who have this disorder. Many educational and behavioral interventions have been shown to be effective in addition to physical and occupational therapies, speech and language interventions, behavior modification, and parent training.

Angelman Syndrom

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