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The Effects Of Angelman Syndrome On Behavior, Cognition, & Development

929 words - 4 pages

Angelman Syndrome is a genetic disorder that affects the nervous system. Angelman Syndrome, also known as AS, affects behavioral, cognitive, and developmental functions of children, but most symptoms are not seen till later in the child’s life (Williams et al.). In 1965, Harry Angelman, a British physician, studied 3 children with similar conditions. He noted many parallel features in these children. The original term for Angelman Syndrome was “Happy Puppet”, but in 1982 the term Happy Puppet became viewed as a demoralizing and was concluded that the conditions should be called Angelman Syndrome (Williams & Frias, 1982). It was first thought that Angelman Syndrome was nearly identical to Prader-Willi Syndrome (PWS), but as technology advanced researchers discovered that AS was a deletion of chromosome fifteen on the maternally derived chromosome and PWS was a deletion on the paternally derived chromosome fifteen (Knoll et al., 1990). Specifically, AS is a deletion or complication in the 15q11.2–15q13 region of the chromosome (Encyclopedia & Disorders, 2008).
Many effects can be noted behaviorally with Angelman Syndrome. Children with AS display a cheerful appearance as a result this behavioral aspect allows for an informal name, “Happy Puppet Syndrome.” Harry Angelman reported that his patients were easily provoked to long outbursts of laughter (1965). Concurring with the original report, laughter is sometimes considered excessive and inappropriate (Clayton-Smith & Laan, 2003). A fairly recent study resulted in a disagreeing conclusion that suggests that the laughter isn’t inappropriate, but is provoked in social situations and certain environments. The results proved when the patient was alone there were almost no convulsions of laughter (Centre & Disorders, 2002). The same research also questioned the diagnostics behind the most common characteristic of Angelman syndrome, the smiling and laughter behavior by concluding that there is a need for more research into the correlation genetically predetermined behavior and environmentally influenced behaviors (Centre & Disorders, 2002). This is a very shocking question considering that it is currently agreed that it is the genetics that cause such a happy demeanor.
Children with Angelman Syndrome have many issues cognitively. Most do not speak and others can speak very few words which have limited to no meaning. In study conducted by Baylor University scientists and geneticists, results from 20 participants with Angelman Syndrome showed that none of the subjects had a cognitive ability above a 17 month old (Peters et al., 2004, p. 112). This
Developmentally, children with AS display many characteristics first noted by Dr. Harry Angelman. He summarized his findings in 1965 by stating that the children demonstrated 7 characteristics. Very obvious indentions in the occipital portion of the skull also associated with Down’s syndrome. As the child with the undiagnosed AS grows, more physical...

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