Prader-Willi Syndrome

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Prader-Willi Syndrome: An Investigation into Paternal and Maternal Origins & Characteristics Abigail McNeal Liberty University COUN 502- Professor Myers August 15, 2011 Abstract Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome.…show more content…
Origination of PWS can appear in four different scenarios as described by Maas et al. (2010): “a paternal deletion (70%), a maternal uniparental disomy (mUPD) (25%), an imprinting centre defect (<5%) or an unbalanced chromosomal translocation (<1%)” (Ledbetter et al. 1981; Nicholls et al. 1989; Buiting et al. 1995; Horsthemke & Buiting 2006; Goldstone et al. 2008; Cassidy & Driscoll 2009) (p. 906). Psychiatric issues commonly known to PWS differ in significance dependent on the origin of the parental chromosome; mUPD or paternal deletion. Differences in behavioral profiles have also been suggested for the different genotypes (Sinnema et al. 2011). As cited in Dykens & Roof (2008), “Relative to persons with paternal deletions, those with UPD generally have better-developed expressive language (Roof et al., 2000; Wittington et al., 2004), but somewhat poorer visual memory and puzzle-solving skills” (Dykens, 2002; Verdine, Troseth, Hodapp, & Dykens, in press). The mUPD presents with a “heightened vulnerability for psychiatric disorders, such as atypical psychosis and affective disorders in young adulthood” (Beardsmore et al., 1998: Boer et al., 2002: Vogels, Matthijs, Legius, Devriendt, & Fryns, 2003., as cited in Sinnema et al. 2011, p. 605). Obesity is a significant problem for individuals with PSW. As cited in Kundert (2008), “a number of factors likely
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