Understanding Prader Essay

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Understanding Prader-Willi Syndrome and its Effects on Individuals, Their Education, and the Families
Kenneth Allen Williams
SPE 613 Summer 2014

Understanding Prader-Willi Syndrome and its Effects on the Individuals, Their Education, and the Families
Name and Etiology of the Condition Prader-Willi syndrome (PWS) derives its name from the individuals who would give us the first descriptions of the syndrome in 1956. The individuals, Andrea Prader and Heinrich Willi, were Swiss Pediatricians (Thompson, Butler, Maclean, & Joseph, 1996). Another name for the syndrome is Prader-Labhart-Willi syndrome. Alexis Labhart was a Swiss doctor who, by 1969 became a full professor of Internal Medicine at Zurich University. According to published research, there have been more than 800 cases diagnosed since PWS was first described and diagnosed in various individuals. (Thompson et al., 1996). The latest research indicates that the number of cases of PWS range from 350,000 to 450,000 worldwide. It was also determined that it affects both male and female (Pascanu, Capraru, Marginean, & Banescu, 2013). “PWS affects about one in every 10,000 to 20,000 individuals. This syndrome has been reported in all races and ethnic groups, although it is reported disproportionately in Whites” (Thompson et al., 1996, p.1 89). There are primarily two genetic possibilities for the cause of the PW syndrome. One seems to be the absence of the chromosome 15 from the father. The other is where the mother contributes two copies of the 15 chromosome. The latter is seen in about 25% of the cases diagnosed (Thompson et al., p.192). “PWS was the first recognized disorder related to genomic imprinting on humans and is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13” (Elena, Bruna, Benedetta, Stefania, & Giuseppe, 2012, p. 1). As one can concur from the above statistics, PWS has its onset from conception in the womb. “The diagnosis of PWS is suspected in patients who have characteristic clinical features and is confirmed by genetic testing” (Pascanu et al., 2013, p. 32). Individuals must keep in mind that PWS may share some behavioral similarities with other types of disorders and disabilities. One can see some similarities between PWS and such disorders as obsessive compulsive disorder and autism. The aspect that differentiates it from other disorders is that it is composed of a “unique” combination of behavioral features (Thompson et al., 1996).
Characteristics of the Condition Thompson et al. (1996) indicated that there are several different clinical features that we see prevalent in those with PWS. Some of the early signs of PWS in individuals are the reduction of fetal activity during the gestation period and poor muscle tone during infancy. Infants with PWS will also have a low birth weight and trouble with feeding. As the individual grows, some of those characteristics include obesity, eyes that are almond shaped, the narrowing of the forehead, and many dental problems. Those with PWS also may have sex organs that are underdeveloped, as well as features such as small hands and feet or the development of scoliosis. All these physical characteristics lend themselves to provide support for a possible diagnosis of PWS. A caution must be put in place here. One must not assume that the presence of any one of more of these characteristics constitutes a 100% correct diagnosis of the PWS. Elena et al. (2012) noted that there is a term known as “PW-Like” (p. 2). These authors indicated that there is a similarity in some of the characteristics of an individual who is diagnosed with PWS, and those diagnosed with Fragile X syndrome and Klinefelter syndrome. Further testing may be needed to determine whether some of these common characteristics observed in any one individual are actually indicative of PWS, Fragile X syndrome, or Klinefelter syndrome. In order to
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