What’s Prader-Willi Syndrome?
Usually diagnosed shortly after birth, Prader-Willi Syndrome (PWS) is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural problems.
PWS is caused by a fault in a group of genes on chromosome number 15. This fault leads to a number of problems and is thought to affect part of the brain called the hypothalamus, which produces hormones and regulates growth and appetite.
Features of PWS include:
- Hypotonia: weak muscle tone and floppiness at birth
- Obesity: caused by overeating and excessive appetite
- Central nervous system (brain and spinal cord) and endocrine gland dysfunction (endocrine glands secrete hormones to regulate many bodily functions including growth and metabolism): causing learning disabilities and short stature among other conditions
- Hypogonadism: immature development of sexual organs and other sexual characteristics
People with PWS have poor large muscle strength, often coupled with poor coordination and balance. Muscle tone can be improved with appropriate therapy and exercise.
PWS in children
One of the most important parts of caring for a child with PWS is to try to maintain a normal weight. The child should have a healthy, balanced diet, avoiding sweet treats and high-calorie items right from the start.
If children are allowed to eat as much as they want, they'll quickly become dangerously overweight. A child with the syndrome can eat three to six times more than other children of the same age and still feel hungry.
Limiting food intake can be very challenging for families. Children may behave badly to get extra food, and their hunger can make them hide or steal food.
PWS itself is not life-threatening. However, long-term compulsive eating and weight gain can lead to children developing other conditions related to overweight including type 2 diabetes and respiratory problems.
If obesity is not prevented by controlling food intake, people with the condition are likely to die a lot younger than would normally be expected. If their diet is well controlled and they don't become overweight, adults can have a good quality of life and probably a normal life expectancy.
Many adults with PWS take part in activities such as voluntary or part-time work but, because of their behavioural problems and learning difficulties, it's unlikely they'll be able to live fully independent lives.
Your child and PWS
If your child has PWS, your clinical team should pass information about them on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS), a service which helps scientists to look for better ways to prevent and treat the condition.
The Prader-Willi Syndrome Association UK has lots of help and advice for parents of children who have been newly diagnosed with PWS.
The site can be accessed at https://www.pwsa.co.uk/pwsa-uk/