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Angel Man Syndrome Essay

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Brittany Corby
300117586
Perspectives on Disabilities
Angelman Syndrome (AS)

Summary of Important Information
What is it?
Angelman Syndrome is a rare genetic disorder that causes developmental delay and neurological problems. AS is caused by a disruption to the maternally inherited portion of the 15th chromosome. This disease was founded in 1965 by physician Harry Angelman. He described having seen several children in his practice with flat heads, jerky movements, protruding tongues, and bouts of laughter. Only recently has medical literature started to reference AS as familiarity has begun to increase. It is estimated that one in twenty five thousand people will be diagnosed with AS. AS has often been misdiagnosed as cerebral palsy or autism.(Mount 2011)
Signs and Symptoms of AS
A number of behavioural features of this disease have been reported but the most prominent are excessive laughter and smiling. Recent research has shown that the highest level of laughter and smiling occurred during the presence of adults than when the children were along. (Hastings 2011) Physical features are small or flat heads, and protruding tongues. Infants with AS appear to be fine at birth but around few months seem to have difficulty feeding. These children tend to exhibit noticeable developmental delays between six to twelve months. Seziuring will usually start to begin between two to three years of age, these seizures are usually unpredictable and hard to control. Profound speech impairment is a characteristic of this disease, with few to no words ever spoken. Individuals with this syndrome often exhibit noticeable hyperactivity and sleep disorders. Movement and balance issues often result and cause severe functional deficits. (Belliner,Karen 1996).
Are there any Treatments?
There is currently no specific treatment or cure for AS. There are medical treatments for some of the symptoms such as epilepsy (usually medication). Physical, occupational, behavioural and...

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