PRADER – WILLI SYDROME

Huy NongAP BIO – 7th

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 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

A child with a deletion of a segment of chromosome 15 will exhibit Prader Willi syndrome if the abnormal chromosome came from the father

-if the abnormal chromosome came from the mother the child would exhibit Angelman sydrome

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 Prader Willi disrupts the functions of brain, mainly the hypothalamus which regulates hunger control and hormone regulation

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

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 Prader Willi

HISTORY Prader Willi syndrome was

discovered by endocrinologist Prader, Labhart, and Willi

Studies began to arise in the 1960’s as scientist and researchers linked Prader Willi disease to cognitive disabilities, bodily characteristics, obesity and other developmental differences

Richard Simmons is a famous actor who was diagnosed with Prader Willi at birth

-ironically, he is known for his weight loss programs and does not struggle with obesity

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