Prader-Willi Syndrome Resources

What is Prader-Willi Syndrome?

Prader-Willi syndrome is a complex genetic condition. Various studies have shown that between 1 in 15,000 to 25,000 children are born with Prader-Willi syndrome and it affects all races and both sexes equally. Prader-Willi syndrome is rare and most people, including many physicians and caregivers as well as new parents and family members, are not familiar with this syndrome.

Cause

PWS occurs when there is lack of expression of one or more genes in a specific region on the chromosome 15 that was inherited from the father, the precise location of the abnormality being designated as 15(q11-q13).

Features

People with Prader-Willi syndrome have an abnormality in the part of their brain (the hypothalamus) that helps determine changes in feelings of hunger before and after eating. They have this continuous urge to eat that is very different from the period of poor eating in the early years. PWS is also associated with difficulties in learning, behavioural impairments (such as manipulative and obsessive-compulsive behaviours) and other social impairments (such as difficulties interpreting and using social cues).

Treatment and intervention

There is currently no cure for Prader-Willi syndrome and there is no known treatment to lessen the drive to eat, although much research is being conducted in this area.

However, the lives of people with Prader-Willi syndrome can be significantly improved through having a sound understanding of the syndrome and access to good informed care and support.

‚ÄčTreatment is primarily symptomatic and most importantly consists of:

  • Early diagnosis, provision of information and support with interventions.
  • Lifetime weight control through diet, environmental controls (limited access to food), and exercise.
  • Growth hormone replacement therapy when available.
  • Sex hormone replacement therapy when available
  • Support strategies that seek to minimise behaviour difficulties and which support activities and social engagement that helps maintain wellbeing

With appropriate support and information and the effective management of specific aspects of the syndrome, people with Prader-Willi syndrome can expect to live healthy and increasingly long lives.

PWS Newsletter 2021 

PWS Research Updates 2022