What is Prader-Willi Syndrome?

What is Prader-Willi Syndrome?

08:37 30th July 2018 | Genetic Defects

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder which has many different effects on the body. It is due to the loss of specific genes, which is normally caused by the spontaneous loss of paternally inherited genetic material on chromosome 15. The genetic disorder affects regulation of appetite, growth, metabolism, and behaviour. There are no preventative measures for this disorder, and risk of it occurring may happen during any pregnancy. 

Symptoms:

At birth, babies may have a weak cry, low muscle tone, and be unable to breastfeed. As children age, affected individuals become constantly hungry with a heightened focus on food, which leads to obesity and developing type 2 diabetes. Although PWS is considered one of the rarer genetic conditions, affecting only around one in every 15,000 – 30,000 births, it is the most common genetic cause of obesity.

Other symptoms include:

  • Speech and intellectual delay 
  • Learning and attention difficulties
  • Hypogonadism
  • Infertility in both males and females

Treatment:

There is no cure for PWS and treatment is targeted at assisting specific symptoms. As early as possible, children may start growth hormone therapy, and other different therapies to assist muscle strengthening and speech capabilities. The biggest challenge around managing the disorder is limiting and supervising food intake, to maintain a normal weight and prevent severe obesity.

Genetic testing with multiple techniques can be done to detect PWS, and the results will also allow you to determine the chances of having another child with PWS. Should you be concerned about the development of your child, please speak to the specialists at Bridge Clinic who can assist in recommending various treatment options.

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