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A Paper About Pradder Willi Sydrome; Very In Depth, With Sources.

933 words - 4 pages

Prader-Willi SyndromeI have decided to research and explain Prader-Willi Syndrome for this paper. I will be discussing the following about the disorder; the causes, all symptoms, diagnostics, the current research. Also included, some history about how this syndrome got its name. First, Prader-Willi Syndrome is inherited from parents, and this can only happen in one way.Prader-Willi Syndrome happens in a child because of an environmental trigger, which causes paternal chromosomal damage. There has been some research about this, and it has revealed that there "may be an association of PWS [Prader-Willi Syndrome] and fathers employed in hydrocarbon-related occupations at the time of conception (factory workers, lumbermen, machinists, chemists, heavy machine operators, mechanics)" (Website 3). In other words, the child born with PWS inherits it from his/her parents, because chromosome 15 in the father is altered by nature. Usually, it can be determined whether a child has PWS during infancy, because there are many recognizable symptoms.Prader-Willi Syndrome has many symptoms, however some are more severe than others. The more severe of the symptoms include hypotonia and feeding difficulties in early life, followed by excessive eating and a development of thinking that they are fat and it is a bad thing. Unless externally controlled, this can turn out to be a very depressing effect. All patients have some degree of speech disorder, but it is more common for it to be a higher degree. Also, a distinctive behavioral phenotype is common. Hypogonadism, "Inadequate functioning of the testes or ovaries as manifested by deficiencies in gametogenesis or the secretion of gonadal hormones" (Website 2) is present in both males and females. And lastly, being short is common throughout many patients. Clearly, this is not a fun syndrome to inherit, and there are still more bad things about it.Some of the less severe, less common, but still present symptoms of Prader-Willi are decreased fetal movement and early exhaustion (improving with age), behavior problems including temper tantrums, obsessive-compulsive behavior, stubbornness, rigidity, stealing, and lying. Also, unnatural sleep disturbances, small hands and feet for one's height and age, nearsightedness, thick saliva, speech articulation defects, and lastly skin picking. While these "side-effects" are not as common a the ones above, they are still found in many patients, and in a combination are giveaways of PWS in a child. But doctors do not just determine whether a person has Prader-Willi syndrome or not; there are a variety of tests that they can run.While there are some tests that doctors and geneticists can run that are very accurate, most of diagnosis is done in DNA-based methylation testing to try to see if the paternally contributed PWS region on chromosome 15 is present. This testing works and is accurate in 99/100 patients. If this testing reveals positive, a type of Methylation testing is important...

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