Prader-Willi Syndrome: 4 Things Parents Need to Know

Prader-Willi Syndrome (PWS) is a genetic disease that is diagnosed by a blood test. Here are four things to know about this rare genetic disorder that is diagnosed in 1 out of every 30,000 individuals.

1. PWS affects everyone equally. People of all backgrounds, races and ethnicities, and both males and females can have PWS. 

2. The symptoms of PWS are different over time. Most kids with PWS are diagnosed soon after birth. The most common symptoms in newborns are severe, weak muscle tone, poor feeding and “failure to thrive.” Later in childhood, kids with PWS have big appetites and their bodies can’t process the food fast enough. This can lead to obesity.
   
   Children with PWS are often unable to control their food intake and need to be watched to make sure they don’t overeat. Parents often need to lock cabinets and the refrigerator. Many symptoms of PWS are thought to be due to a dysfunctional part of the brain called the hypothalamus, a small hormone gland which plays a role in regulating appetite, hormone balance, body temperature, pain, and emotions. Most children with PWS have developmental delays and may have behavioral concerns including anxiety, obsessive-compulsive disorder and impulsivity.

3. The only approved treatment for PWS is daily human growth hormone injections. Approved for more than two decades, early growth hormone treatment has been shown to increase muscle mass and tone, decrease body fat, improve exercise endurance, bone health and cardiovascular health. Other medical treatments are available to help treat some of the behavioral concerns from PWS.
   
   There is no known cure for PWS, but this is an exciting time in PWS history as there are new treatments under research aimed at managing appetite.

4. Taking care of PWS is a team effort.  PWS health care teams commonly include doctors, nurses, dieticians, social workers and psychologists. In addition, most individuals with PWS participate in physical, occupational and speech therapy to promote development. Family members, school nurses, friends and other caregivers are an important part of the support and care team as well.

To learn more about the Endocrinology Department at Nationwide Children’s Hospital, call (614) 722-4425 or click here.