Prader-Willi Syndrome

Kathryn Phillips

What is Prader-Willi Syndrome (P.W.S)?

Prader-Willi syndrome is a rare genetic condition in which genes on chromosome 15 are deleted or unexpressed on the paternal chromosome. P.W.S is a complex disorder that affects many different parts of the body at different stages of an individuals life.

Prader- Willi syndrome is the most common known genetic cause of life threatening obesity in children. One of the most prevelant symptoms is the chronic feeling of hunger. It is common for those with PWS to have food seeking behaviors such as, hoarding or foraging for food, eating inedibles, and stealing food or money to buy food.

Chromosome 15 represents more than 3% of the total DNA in cells and spans more than 102 million DNA building blocks. Chromosome 15 likely contains 600 to 700 genes that provide instructions for make proteins.

Family and Community Resources

Prader-Willi Alliance of NY, Inc. 244 5th Avenue, Suite D-110 New York, NY 10001 (800) 442-1655 Alliance@prader-willi.org PWSA of Maryland, Virginia, and DC Lisa Varndell 547 Varndell Rd Grantsville, MD Phone: Lisa Varndell 301-895-4165
http://www.pwsausa.org/MD/index.htm

The Childrens Ins titute 1405 Shady Avenue Pittsburgh PA 15217-1350 Phone: 800.554.3179 http://www.amazingkids.org/

Signs/ symptoms of PraderWilli syndrome

Seen at Birth! Newborns are small and floppy. ! Male infants may have undescended testicles. ! Often breech or caesarean birth ! Lethargy

Treatment There is no cure for Prader- Willi syndrome but there are treatments in place to lessen the conditions of symptoms. Early intervention is key to helping individuals reach their full potential. An infant should undergo therapies to improve muscle tone. In the classroom speech and occupational therapies are beneficial. A prescription of recombinant growth hormone injections support linear growth and increased muscle mass, they also may lessen food preoccupation and weight gain. Because of severe obesity, some with PWS have sleep apnea and need respiratory ventilation. Hormone replacements may be used during puberty theddddpromote norma correct
Reference: http://www.ncbi.nlm.nih.gov/books/NBK1330/
National Center for Biotechnology Information, U.S. National Library of Medicine

In Infancy! Delayed motor development ! Feeding difficulties (poor muscle tone affects sucking reflex) ! Short stature, small hands and feet compared to body

In Childhood/ Adolescence
! Failure to thrive, delayed milestones and intellectual delay ! Poor physical coordination ! Hyperphagia (over eating) Beginning between ages 2 to 8 and continuing through adulthood. ! Delayed puberty ! Sleep disorders ! Obesity

Adulthood
! Infertility ! Hypotonia (low Muscle tone) ! Learning disabilities/ intellectual functioning ! Obesity/ over-eating ! Prone to diabetes mellitus ! Morbid obesity may lead to type 2 diabetes and high blood pressure

http://www.ncbi.nlm.nih.gov/books/NBK1330/
The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader-Willi syndrome. de Lind van Wijngaarden RF, Joosten KF, van den Berg S, Otten BJ, de Jong FH, Sweep CG, de Weerd AW, HokkenKoelega AC. J Clin Endocrinol Metab. 2009 Jul;94(7):2387-93. doi: 10.1210/jc.2008-2808. Epub 2009 Apr 21. PMID: 19383777 [PubMed - indexed for MEDLINE] http://www.prader-willi.org/?page _id=13