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What is PWS? An overview

PWS is a lifelong condition and although lots of research is being carried out, to date there is no cure. There are no known reasons for the genetic accident that causes this condition, but we are learning more about PWS everyday, and there is hope. Hope that, through increased knowledge, we can help all people with this condition to live a fuller life despite their limitations.

Prader-Willi Syndrome (PWS) is a rare and very complex non-inherited genetic disorder in which several genes on the 15th chromosome are deleted or unexpressed. PWS was first described by Swiss doctors Andrea Prader, Alexis Labhart and Heinrich Willi in 1956 based on the clinical characteristics of nine children they examined. The common characteristics defined in the initial report included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass and early onset childhood obesity), hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity and intellectual disability. In recent years, the syndrome has been genetically characterized as an abnormality of chromosome 15, and definitive diagnosis is now based on genetic testing.

Symptoms associated with Prader-Willi Syndrome (PWS) are believed to be caused, in part, by a defect in the hypothalamus; an important supervisory centre in the brain that controls metabolism of fats and carbohydrates, the development of muscle tone, the regulation of the sleep/wake cycle, body temperature, blood pressure, heartbeat, the expression of emotions, and many more functions of the body.

Symptoms caused by PWS vary throughout the lifetime and vary in severity from person to person. Infants with PWS fail to thrive and require varying degrees of assistance in order to survive. Beginning some time in childhood, the brain fails to regulate metabolism and appetite normally. For a person with PWS there is a constant pre-occupation with food accompanied by an unrelenting, overwhelming, overriding physiological drive to eat. Normal satiety (the feeling of fullness after eating) does not exist. The physiological drive to eat is so powerful that most individuals with PWS will go to great lengths to eat large quantities of food. Next to hyperphagia - the insatiable drive for food - probably the most challenging symptom caused by PWS is the erratic control over emotions and behaviour.

People with PWS are often easily frustrated, impulsive, quick to anger, rigid and concrete thinkers, and highly anxious. Throughout their child's lifetime, they will require the assistance of a multitude of professionals.

There is no cure for PWS - yet. No known medication controls or even reduces the hyperphagia symptom, and very few medications successfully manage the behavioural symptoms. No one with PWS is able to live independently because without 24/7 supervision for the entirety of their life, individuals may die prematurely as a result of choking, stomach rupture or tissue necroses, or from complications caused by morbid obesity. There are, though, treatments and management strategies that can help reduce or manage some of the symptoms caused by PWS and improve the quality of life.......and there is hope.

Further Information
Medical Information for PWS:
A list every parent, and their doctor, should have.
USA - click here
UK - click here

If you believe that your son, daughter or someone you care for has several of the characteristics of Prader-Willi Syndrome then contact your local doctor and they can arrange for further investigations.

Publications from the Children’s Nutrition Research Centre (CNRC), The University of Queensland in Brisbane

Need to know Nutrition for Children with Prader Willi Syndrome: A guide for Parents and Carers - click here

Exercise and Physical Activity for Children with Prader Willi Syndrome: A guide for Parents and Carers - click here

"The Hunger" - A Report by Tim Noonan shown on the Sunday Night Program November 11th 2012
Click here for the story and to watch the video

The PWSA of Victoria Web Site is intended to provide information only - not to diagnose or advocate particular treatment options. The Diagnosis and treatment of Prader-Willi Syndrome should be made through a qualified medical professional. Thus, it is strongly urged that patients do not change treatment without first consulting their doctor. The inclusion of any resource or link in the PWSA of Victoria Web Site does not imply endorsement.