Prader-Willi Program

We understand it can be overwhelming to have a child with Prader-Willi Syndrome (PWS) and you might not know where to start. At CHOC, our pediatric endocrinologists help support families by developing an individualized approach to diagnose PWS early and manage the complications that come with it.

PWS is a genetic disorder that affects growth, metabolism, appetite, behavior, and learning.
The CHOC endocrinology team works directly with other specialties including developmental-behavioral pediatricians, pulmonologists, geneticists, dieticians, social workers, case managers and child life specialists to develop a comprehensive treatment plan to manage Prader-Willi effectively.

Children normally inherit one copy of a chromosome from each parent. PWS is caused by a loss of genetic function on chromosome 15. Some genes on this chromosome turn on only on the copy from the father.

About 70% of PWS cases occur when part of the father’s chromosome 15 is missing. In about 25% of cases, no copies of chromosome 15 are inherited from the father, and instead obtains 2 copies from the mother.

In rare cases, PWS can be caused by chromosomal rearrangement or by a change that abnormally turns off genes on the paternal chromosome copy.  PWS cannot be predicted or prevented and is  not the fault of either parent. The diagnosis can be made from a simple blood test.

Symptoms of Prader-Willi Syndrome include:

• Low muscle tone (weak muscles)
• Food seeking behaviors and weight gain
• Behavioral issues
• Learning disabilities
• Short stature
• Delayed puberty
• Increased risk of type 2 diabetes
• Sleep apnea

Although there is no cure for PWS, there are many treatments and strategies to minimize complications including:

• Growth hormone to improve muscle strength and metabolism
• Managing nutrition to prevent obesity and its complications
• Diagnosing and managing behavioral issues
• Connecting families with supportive services and community resources

CHOC specialists work together as a team to discuss your child’s case and determine the best course of treatment. Our team also collaborates with pulmonology, developmental behavioral pediatricians, social workers, dietitians and child life specialists to develop a unique treatment plan for your child. At PWS clinic visits, you and your child will be able to meet with each of these specialists on the same day.