Prader-Willi Syndrome

By Joey Valenti

How is Prader-Willi Syndrome Inherited?• 70% of people have the syndrome because of

deletion -- The q12 band of chromosome 15 is inhered from mom but not dad.

• 25% have the syndrome because of Maternal Disomy or UPD – both chromosome 15’s are inhered from mom and none from dad, because the active or paternally expressed gene is not passed on.

• 5% have the syndrome due to an imprinting defect – there is a defect with inheriting q11, q12 and q13 from the father’s chromosome 15. Normal expression of this gene will not happen.

Symptoms of the disorderand people that have the disorder?

What is the lifespan and treatment for a person with Prader-Willi Syndrome?• There is no exact life expectancy, but if a person with

Prader-Willi Syndrome watches their weight, gets a lot of help, and sometimes may need psychotropic drugs and synthetic growth hormones, they can live a full life.

• There is no available cure yet.• People with this syndrome can live a normal life but they

will need a lot of help and support from school, home, and work.

• Also they will need life-long diet support.• Brand-new treatments now include psychotropic drugs and

synthetic growth hormones.

How the disorder affects the lives of family members

• It will create a lot of stress for everyone in the family, especially if the family member is very low functioning.

• It can cost the family extra financial expenses taking care of the family member – for medical services, therapy, special schooling, etc.

• The family will have to watch how much food this person consumes because they will overeat and their body doesn’t properly metabolize.

What have I learned about this disorder

• I have learned that there is a disease called Prader-Willi Syndrome and that it is caused by issues with the q12 of the father’s chromosome 15, and greatly affects the quality of the person’s life.

Reference Slide

• http://www.pwsausa.org/syndrome/gentics__chromosome_15.html

• http://www.pwsausa.org/syndrome/index.html

• http://www.pwsausa.org/fag.html