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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

PRADER – WILLI SYDROME

HuyNongAP BIO – 7thNOVEMBER 2011

symptoms
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
gentics
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
life with prader wili
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
treatments for prader wili syndrom
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
history
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
works cited
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