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Prader-Willi Syndrome

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.

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Prader-Willi Syndrome

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  1. Prader-Willi Syndrome By Joey Valenti

  2. 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.

  3. Symptoms of the disorderand people that have the disorder? • Chronic feeling of hunger/metabolism burns less • calories than normal • Poor build/short stature/weak figure • Have learning, social, behavior and motor skill • issues • IQ range is 40–105, Average IQ is 70 • It occurs in boys and girls equally • It happens in all races equally • Estimates state that it affects people 1: 8,000 to • 1:25,000 -- but most likely it is 1:15,000

  4. 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.

  5. 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.

  6. 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.

  7. Reference Slide • http://www.pwsausa.org/syndrome/gentics__chromosome_15.html • http://www.pwsausa.org/syndrome/index.html • http://www.pwsausa.org/fag.html

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