Prader-Willi syndrome is a rare genetic disorder. It is characterized by:
Prader-Willi syndrome is believed to be caused by a genetic defect on chromosome 15, passed on by the father.
A risk factor is something that increases your chance of getting a disease or condition. Since Prader-Willi syndrome is caused by a random genetic defect, there are no known risk factors. However, in about 1% of cases, this defect may recur in the same family. Some genetic counselors recommend testing of affected children to identify very rare situations where the risk of recurrence might be 50%.
Symptoms of an infant born with Prader-Willi syndrome may include:
As a toddler, new symptoms may include:
As the child gets older, symptoms may include:
The diagnosis is usually evident shortly after birth based on symptoms and a characteristic physical appearance:
Diagnosis can be confirmed by genetic testing of a blood sample.
Treatment, which continues into adulthood, is managed by the parents or caregivers of children with Prader-Willi syndrome. Key areas include:
Perhaps the most important concern is managing food intake. People with Prader-Willi syndrome are unable to resist food. This is due to a defect in the part of the brain that controls the normal feelings of fullness when the body has had enough food. In addition, people with Prader-Willi syndrome have a slow metabolism. These traits can cause excessive weight gain, morbid obesity, and other related health problems. Research into the use of novel anti-obesity medications is underway.
Infants and young children with Prader-Willi syndrome are typically happy and loving. But as they get older, you may notice behavior changes. Common behaviors include:
Children with Prader-Willi syndrome may experience the following:
For certain conditions, such as delayed physical growth or sexual development, growth hormone therapy may be helpful.
The following conditions are associated with Prader-Willi syndrome and will require life-long management:
RESOURCES:
March of Dimes
http://www.modimes.org
Prader-Willi Syndrome Association (USA)
http://www.pwsausa.org
CANADIAN RESOURCES:
Foundation for Prader-Willi Research
www.fpwr.ca
The Hospital for SICK Kids
http://www.sickkids.ca/
References:
Missouri Developmental Disability Resource Center website. Available at: http://www.moddrc.org/ .
Smith’s Recognizable Patterns of Human Malformation . 6th Edition. Elsevier Saunders, 2006.
Wattendorf DJ, Muenke M. Prader-Willi syndrome. Am Fam Physician . 2005; 72(5):827-830.
Last reviewed November 2008 by Rosalyn Carson-DeWitt, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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