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Introduction Michelle Watson and Shelby Metz
Prader Willi Syndrome otherwise known as PWS -
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PWS
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Mode of Inheritence
Deletion of genes from chromosome 15, from the father, causes PWS. The missing genes are the cause of the inability to regulate appetite. Because of the missing chromosome from the father their are two chromosome 15's from the mother. Parents, especially the father, can feel responsible for the disorder that their child suffers from and also the child can feel resentment towards their parents for all that they have to deal with their whole lives -
Clinical Description of Disorder
Hypotonia negatively effects muscle tone and is one of the first problems faced by PWS patients. People with PWS have chronic hunger, short stature, and unique facial characteristics. They also have small hands and feet and their development is delayed.The chronic hunger is a problem for
The chronic hunger is a problem for their whole lives and could effect their ability to live a normal life . Resulting obesity can eventually cause death or lung and heart problems. -
Detection
. Specialized Genetic testing from a blood sample can show PWS. Tests can show signs related to morbid obesity like heart,lung, oxygen, and joint problems. The facial features of PWS patients can be recognized by a doctor. Babies are “floppy” when they have PWS because of hypotonia that effects their muscles. Sometimes the disorder isn't diagnosed right at birth and it can be hard for families who don't know what is wrong with their children. -
Treatment
restricting how much the kid eats and including exercise can help against weight gain.
growth hormone and hormone replacement can also help physical strength and sex hormone correction.
People with Prader Willi have no choice but to limit how much they eat even though they’re so hungry so it must be a hard life for people with this disorder to constantly control their appetite. -
Research
Prader Willi Syndrome Association USA collaborates with the Scientific Advisory Board, Clinical Advisory Board, the Research Committee associated with their organization. Things such as central adrenal insufficiency in PWS patients is being researched and new treatments are being identified. The progression of more and more being discovered about PWS is an encouraging thing for all people that have the disorder because it only helps them live a more and more normal life -
Citation
"PWSA USA." Prader Willi Syndrome Association . 30 Mar. 2001. Web. 21 Jan. 2011. http://www.pwsausa.org/. Prader Willi Syndrome." Health Guide New York Times. 14 June 2003. Web. 23 Jan. 2011. http://health.nytimes.com/health/guides/disease/prader-willi-syndrome/overview.html. "PWS questions and answers." Still Hungry For a Cure. 16 Mar. 2004. Web. 22 Jan. 2011. http://www.pwsausa.org/faq.htm#4.
