Prader-Willi Syndrome

By: Ben Duban

What causes Prader-Willi Syndrome?

About 70 percent of cases happen when part of chromosome 15 is deleted. Another 25 percent is caused by inheriting 2 chromosome 15's from the mother and none from the father, rarely, it is caused by another mutation that turns off that section of chromosome.

Are there prenatal tests for this disorder?

No, unfortunately it cannot be diagnosed prenatally.

What are the symptoms of Prader-Willi syndrome?

Some symptoms are:
For infants- hypotonia, feeding difficulties, poor growth and delayed development.

In childhood- permanent appetite, which leads to overeating and obesity. This can lead to diabetes.

People with Prader-Willi syndrome may be infertile.

Who does this affect?

Prader-Willi syndrome can affect anyone. It occurs in 1 in 12000-15000 people.

How is it gotten?

It is not inherited, it is caused during the production of gametes.

What kind of medical help do people with Prader-Willi syndrome need?

Many people with Prader-Willi syndrome may need people to help them manage their eating, but other than that they can live semi independently. In infancy, they may struggle to breastfeed, and may need assistance eating, but after that they should be okay.

What is the long term outlook for people with prader-willi syndrome?

They may struggle with weight gain and have other health problems and maybe mild to moderate mental impairment, but other than that, they can live their life close to normally.

Are there any treatments or cures?

There are treatments for certain symptoms, but there is no cure for Prader-Willi syndrome.

Can it be prevented?

No, because it is a genetic disorder, it cannot be prevented.

Can someone with prader-willi syndrome have children?

Some can, but others are infertile.

Will those children be affected?

If the person with Prader-Willi syndrome can have children and does, they should not have the disorder.

What is the current status of research on this disorder?

There is lots of research going on about Prader-Willi syndrome. A lot of that research is about possible treatments for certain symptoms.

Is there a cure or new treatment coming soon?

Unfortunately, no there is not a new cure or treatment coming soon.