Common Questions about Prader-Willi Syndrome

Among rare diseases, Prader-Willi syndrome is relatively common. It affects 1 in 10,000 to 1 in 15,000 individuals.

There is nothing you could have done to prevent the syndrome. It was not a medication you took during pregnancy or something you did to stress your body when you were young. Most of the time it is a spontaneous genetic change that occurs at or near the time of conception. It is known that missing the paternally inherited genes located in a region of chromosome 15 causes PWS – most commonly it is a deletion on the paternal chromosome or inheritance of both of the maternal chromosome 15s (in this case the paternal chromosome is missing). 

There are very few cases that can be inherited in the case of an unaffected father passing a change in his chromosomes down to his child. This is no one’s fault. All of us carry about 100 changes that we can pass on through no fault of our own. A genetics doctor should be involved in your child’s care for more detailed discussion.

Take a deep breath. The most important thing you can do is be there for your adorable son or daughter with PWS. People with PWS live very fulfilled lives. With help, individuals with PWS can accomplish a lot. They can complete school, be successfully employed and move away from their parents. They do require support from their families and community to reach their highest potential and avoid obesity and its complications.

It is important your child see many different medical providers to optimize his/her care.  These include members of a team of doctors, such as a geneticist, endocrinologist, nutritionist, pulmonologist and therapists. Enrollment in early intervention services is also key to optimizing your child’s success. 

Your child should be started on growth hormone as soon as the diagnosis is confirmed. Hormones help growth, maintaining lean body mass, and even long-term cognition in children with PWS.

In the newborn period, individuals with PWS have difficulty feeding due to low muscle tone, poor suck, and a disinterest in eating. After this phase, your child will likely feed normally for a period. Eventually, individuals with PWS have difficulty achieving satiety. This can be very distressing to families as treatment often requires environmental modifications restricting access to food. Unfortunately, there is no treatment available for this; however, the good news is that there are many new medications currently in development that are aimed at the inability to achieve satiety in PWS. 

The goal of our clinic is to remain up-to-date on all the potential upcoming treatments and medication trials to provide you the opportunity for your child to participate.

In the early childhood years, behaviors can mimic that of normal toddlers including tantrums, dependence on routine, difficulty transitioning and stubbornness. Children with PWS often have obsessive-compulsive behaviors and can be manipulative. They continue to have significant difficulty with transitioning. They may have autistic-like behaviors and/or attention deficit and hyperactive symptoms. Psychosis and depression are also prevalent in the PWS population. They may also pick at skin irritations. 

Routine and structure are most important in the management of behavioral symptoms in your child's daily activities. Encouragement and positive reinforcement is key. Psychotropic medications may also be beneficial.

If you are worried or have questions, please try to stop worrying and email us at praderwilliclinic@vumc.org. We want to emphasize how important it is not to ever blame yourself. We are here to help.