PRADER-WILLI SYNDROME (PWS)

This is a syndrome is a group of features that occur together to characterise a medical disorder. The pattern of characteristics associated with Prader-Willi Syndrome was first described in 1956 by three doctors - A. Prader, H. Willi and A. Labhart - and is named after the first two.

Incidence

People do not catch Prader-Willi Syndrome, nor can they grow out of it. They are born with it and will have it throughout their life. Because the syndrome is not very common, few doctors know much about it. Research has yet to find a cure for Prader-Willi Syndrome and the cause is unknown.

Although about 85% of people with Prader-Willi Syndrome have a detectable chromosomal abnormality, almost invariably only one child in the family is affected and normal brothers and sisters do not pass on the condition. We believe that many people with PWS remain undiagnosed and the incidence is thought to be 1 in 15,000.

However, as awareness and knowledge grows (largely through the efforts of members of the Prader-Willi Syndrome Associations in the UK, USA, Australia, Canada, Denmark, Holland and Sweden, plus the work of their medical advisers) more and more children are now being diagnosed at, or shortly after birth.

Symptoms

Prader-Willi Syndrome affects both boys and girls equally from birth, and continues throughout life. After birth the babies have difficulty with sucking and feeding and may not thrive well. Then, usually between the ages of two and four, their appetite increases dramatically to become an obsession with food and eating. This almost continual hunger is probably due to a disorder of a very small part of the brain and, if not controlled, will result in gross obesity and can become life-threatening.

Most people with PWS suffer from learning difficulties and, although they are usually warm, friendly and loving, they occasionally have uncontrollable short-lived temper tantrums or rages. Their muscles are weak, and this can cause difficulties with balance and co-ordination.

Treatment

Whilst ante-natal diagnosis is not currently possible, it may become so in the future. As the cause of Prader-Willi Syndrome has still to be found, the only "treatment" at present is to establish a sheltered and regulated lifestyle with strict dietary control, physiotherapy when appropriate, specialised education and then a supervised occupation, all in a loving and understanding environment. Because very few adults with PWS are ever able to achieve a fully independent lifestyle, they need continuous support and care throughout their lives.