Prader-Willi syndrome

Prader-Willi syndrome symptoms

At birth, babies with Prader-Willi syndrome are usually small and floppy, with low muscle tone, and have problems feeding. They may have small hands and feet, and boys may have undescended testicles. The babies are slow to start walking and poor motor skills may persist into adult life.

After about six months to a year, especially as the child becomes mobile, they develop an interest in food that may become an insatiable obsession. Weight gain can be rapid, leading to severe obesity that results in diabetes, strain on the heart, lungs and skeleton, and even early death.

Other symptoms can include:

• Learning difficulties
• Short stature
• Underdeveloped genital organs
• Behavioural problems

People with Prader-Willi syndrome often have obsessive-compulsive behaviour - they may hoard possessions and show repetitive habits such as picking at skin or hair. They are unsettled by changes in routine and can show unpredictable rages and aggression. Some individuals are more severely affected than others.

Some people have also noticed that children with Prader-Willi syndrome may be unusually blonde and blue-eyed.

Prader-Willi syndrome causes

Prader-Willi syndrome is a genetic condition that occurs in one in 15,000 to 20,000 live births. It results from disruption of chromosome 15, which leads to a disruption of a part of the brain called the hypothalamus, which controls appetite.

Genetic tests on blood can confirm the diagnosis, and may be done during pregnancy using CVS or amniocentesis if there's known to be a risk. However, in most cases the condition doesn't recur within one family.

Prader-Willi syndrome treatments

As Prader-Willi syndrome is a genetic condition, it can't be cured. Support for specific problems such as learning difficulties and, most importantly, managing appetite and diet is essential.

Although children with Prader-Willi syndrome are always voraciously hungry, they actually require slightly fewer calories than a normal child, so it can be particularly difficult to control weight. In addition, the child may go to great lengths to get food. Parents and carers may have to take strict measures to control food intake.

Recent research has suggested treatment with growth hormone can help to improve growth and reduce the proportion of body fat, as well as improving physical strength and agility. Hormonal treatments may also be useful to develop the genital organs.

Advice and support

Prader-Willi Syndrome Association (UK)

• Tel: 01332 365676
• Email: admin@pwsa.co.uk
• Website: pwsa.co.uk