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Essay / Research Paper Abstract
This 12 page report discusses the genetic problem of Prader-Willi Syndrome. Prader-Willi syndrome (PWS) can be described by the deceptively simple statement that it is a neurobehavioral disorder that is most often the result of genetic problem related to the absence of a specific chromosome (number 15). A special focus in this report is on speech and language considerations as related to PWS. Bibliography lists 8 sources.
Page Count:
12 pages (~225 words per page)
File: D0_BWprader.rtf
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a specific chromosome (number 15). Just as any genetic anomaly has different impacts on different people, Prader-Willi is associated with a number of problems that vary in their intensity from
individual to individual. And also as with most genetic problems, identifying the problem, giving it a name and knowing what it is more than likely to cause is far less
difficult than treating or preventing it. It is a syndrome, a condition, a life that will disrupt the lives of the family members of the PWS individual in ways that
are nearly unimaginable. Who can truly "imagine" having to install locks on their food cabinets and refrigerators!? It will require that the loved ones and caregivers for the person with
the syndrome to completely alter their lives to meet the needs of a person who has little control over altering their own life. And yet, most of the time and
with most of the people who have PWS, they are also well-aware that their lives are far from "mainstream." Characteristics of Prader-Willi Syndrome According to the Prader-Willi Syndrome Association and
the information it provides to both the general public and the families, clinicians, and other caregivers who deal with Prader-Willi syndrome: "The genetic cause is loss of yet unidentified genes
normally contributed by the father" (Internet source). Information at the PWSAs website also explains it in far more technical terms that explain the specific chromosomal aberrations: "Occurs from
three main genetic errors: Approximately 70% of cases have a non-inherited deletion in the paternally contributed chromosome 15; approximately 25% have maternal uniparental disomy (UPD)-two maternal 15s and no
paternal chromosome 15; and 2-5% have an error in the imprinting process that renders the paternal contribution nonfunctional" (Internet source). A baby born with PWS is most likely
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