How do doctors diagnose Prader-Willi syndrome?

Typically, Prader-Willi syndrome is diagnosed with one or more of the following:

  • Complete review of your child’s medical history
  • Physical exam
  • Genetic testing

How Do Doctors Treat PWS?

There is no cure for PWS. However, doctors can often treat some of the conditions that go along with PWS. The doctor will talk with you about creating a treatment plan for your child’s needs and symptoms.

Common PSW treatments include:

Therapies and medications

  • Various types of therapy. This can include speech therapy, occupational therapy, and physical therapy. These therapies can help with your child’s development.
  • Behavior management. Children with PWS can develop challenging behavior issues. A psychologist can be helpful in finding your child the support they need.
  • Weight management. A dietitian can help you make a healthy diet plan to help manage your child's weight and make sure they are getting the nutrition needed.
  • Human growth hormone (HGH) treatment. This might help your child grow taller and have healthy levels of body fat. It can also help with movement and breathing. An endocrinologist (hormone doctor) can help discuss this option with you.

Follow-up care and check-ups

  • Yearly eye check
  • Checking your baby’s nutrition and feeding skills
  • Scoliosis check. Every year, your child should be evaluated for scoliosis (a curve in the spine) by their primary care physician.

Tests

  • Bloodwork. Every year, your child’s doctor should check the blood for thyroid levels.
  • Sleep study. If your child has trouble sleeping, an overnight sleep study in the hospital can be helpful.

Surgery

  • Orchidoplexy surgery. In boys with PWS, sometimes the testicles do not fully descend (drop down into the proper position). In such cases, a small surgery can bring them down to their proper location.
Rev. 4/2018. Reviewed by the MGHfC Family Advisory Council.