Angelman Syndrome Essay

Submitted By andrewbrowntk
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Angelman Syndrome is a very rare neurogenetic condition which hinders mental and physical development of children. This condition was first described by an English paediatric doctor named Harry Angelman in 1965 when he witnessed 3 of his child patients who had a similar pattern of developmental problems, seizures and characteristic behavior. Dr. Angelman never found a cause of the condition in his career. People usually think of Angelman syndrome as autism but it is a lot different. A major difference between these two conditions is that autism affects 1 in 68 children worldwide where Angelman syndrome affects 1 in 15,000 children making Angelman syndrome extremely more rare in occurrence.
Characteristics of Angelman syndrome include lack of speech which is usually the first noticed symptom, developmental delay, seizures, and walking and balance problems.The condition has also been commonly known as the “Happy Puppet
Syndrome” because sufferers are unusually cheerful and deceptively happy. These symptoms are the most prevalent in people who suffer from AS. This criteria could contribute to the diagnosis of Angelman syndrome in children. Other symptoms shown but not as consistently shown include the affected child walking with their arms held up in the air, stiff or jerky movements, and having a small head or flatness to the back of head. Misdiagnosis is a major problem with this condition because Angelman syndrome is so rare and doctors might lean toward diagnosing a different condition such as autism
(cognitive disabilities), cerebral palsy (degrading motor skills) , or gelastic epilepsy
(seizures). This becomes a major issue because conditions of the individual can get increasingly worse. It is estimated that over 50 percent of people with Angelman syndrome are originally misdiagnosed. People with Angelman syndrome will