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PRADER – WILLI SYDROME

PRADER – WILLI SYDROME. Huy Nong AP BIO – 7 th NOVEMBER 2011. SYMPTOMS. Obesity and over eating ( hyperphagia ) Reduced muscle tone ( hypotonia ) Reduced mental abilities Delayed developments Underdeveloped genitals ( hypergonadism ) -testicles cannot be felt in the scrotum for boys

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PRADER – WILLI SYDROME

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  1. PRADER – WILLI SYDROME HuyNongAP BIO – 7thNOVEMBER 2011

  2. SYMPTOMS • Obesity and over eating (hyperphagia) • Reduced muscle tone (hypotonia) • Reduced mental abilities • Delayed developments • Underdeveloped genitals (hypergonadism) -testicles cannot be felt in the scrotum for boys • Problems sucking or swallowing • Small hands and feet compared to the body • Newborns with this condition appear very floppy and small • Weak cry • PRADER WILLI often times results in diabetes and Obsessive Compulsive Disorder

  3. GENTICS • A child with a deletion of a segment of chromosome 15 will exhibit PraderWilli syndrome if the abnormal chromosome came from the father-if the abnormal chromosome came from the mother the child would exhibit Angelmansydrome • Prader – Willi is a parent specific gene with regards to the father • Prader – Willi is not inherited and the genetic changes occur randomly during formation of sperm and egg • People stricken with this illness usually have no family history of Prader – Willi • Prader – Willi also occurs when an individual receives two copies of chromosome 15 from the mother (since the father copy is missing) • The genetic defect of PraderWilli disrupts the functions of brain, mainly the hypothalamus which regulates hunger control and hormone regulation

  4. LIFE WITH PRADER - WILI • Children with Prader – Willi have a constant food craving which results in rapid weight gain • During puberty, sex organs never develop fully and males and females are both sterile • Due to low muscle mass, children cannot participate in common everyday activates such as sports • Mental and cognitive disabilities impair children from an education leaving parents to result to home school or special education services

  5. TREATMENTS FOR PRADER WILI SYNDROM • Good infant nutrition: Provides nutrients, focusing on a high-calorie diet to assist with low muscle tone • Growth hormone treatments: injecting human growth hormones to assist the body in regulation of growth and stature as well as metabolism • Mental Health Care: Psychologist and health professionals may assist individuals who develop Attention Deficit Disorder, Obsessive Compulsive Disorder, or mood disorders -Often times medications will be prescribed to assist with the mood swings • There are currently no active ways for prevention of PraderWilli

  6. HISTORY • PraderWilli syndrome was discovered by endocrinologist Prader, Labhart, and Willi • Studies began to arise in the 1960’s as scientist and researchers linked PraderWilli disease to cognitive disabilities, bodily characteristics, obesity and other developmental differences • Richard Simmons is a famous actor who was diagnosed with PraderWilli at birth -ironically, he is known for his weight loss programs and does not struggle with obesity

  7. WORKS CITED • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002572/ • http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm • http://ghr.nlm.nih.gov/condition/prader-willi-syndrome • http://www.cnn.com/HEALTH/library/prader-willi-syndrome/DS00922.html • Campbell, Biology, 6th edition

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