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Angelman Syndrome Research Paper

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In 1964 Harry Angelman reported clinical findings in three children with similar, unusual attributes. This disorder where one often stays excited for no apparent reason, but has low motor skills was once known as “Happy Puppet Syndrome”. The name was seen as pejorative and got renamed after the man that discovered the disorder, as Angelman Syndrome (AS) after Dr. Harry Angelman. This disorder can be distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and skin with blue eyes, subtle dysmorphic facial features, and happy and excitable disposition which happens to be the most prominent of all these attributes. Numerous people throughout the years have grown the public knowledge of Angelman Syndrome in order to help cope and live with the disorder.

Angelman diagnosed three children with AS, but did not quite understand how they got the disorder; however, in 1987 Magenis discovered the absence of chromosome 15q11-13 in two patients with AS. Subsequent studies …show more content…
Symptoms would include, as an infant, the lack of crawling or babbling, which would start at or around six to twelve months old. Frequent smiling or laughter and minimum speech can be seen at infancy and consist throughout their life. Also, ataxia and the inability to walk, move, or balance well due to the developmental and/or the intellectual disability, can also be a big sign to consider the possibility of Angelman syndrome. The deletion of chromosome 15q11-13, causes the developmental and intellectual disability, specifically in patients with Angelman syndrome. As mentioned before, epilepsy can commonly be spotted in AS patients, starting as young as two years old. Abnormal brain development can cause microcephaly in babies with AS. Lastly, hypopigmentation of the skin, hair, and eyes is also present in most patients, seen at

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