1. Prader – Willi Syndrome By Ria Gulati & Ami Bulsara Period 4

2. Clinical Symptoms Short stature Poor motor skills* Weight gain Underdeveloped sex organs Mild retardation and learning disabilities *motor skills: the ability to perform muscle-and-nerve acts that produce movement

3. Rare Symptoms Nearsightedness Light skin compared to other family members High pain tolerance Skin picking

4. Problems Associated with Disease Constant feeling of hunger leads to obesity The overeating could become uncontrollable and be life-threatening

5. Is it Common? common in all races However, in black patients, growth is less affected About 1 in 10,000 to 1 in 15,000 people are affected

6. Mode of Inheritance Is Prader – Willi Syndrome autosomal or sex-linked? Autosomal

7. Caused by a Chromosomal Problem It is a chromosomal problem caused when… – Paternal genes on chromosome 15 are missing – Inheritance of chromosome 15 is twice from mother and none from father – Defect in paternal genes on chromosome 15

8. Treatment of Symptoms Injection of hormones to speed up hormonal growth Weight management Change of diet

9. Treatment of Gene Defect There is no treatment for this gene defect Is There a Cure? Gene Therapy? There is no cure or gene therapy available at this point in time

10. Current Reseach Prader – Willi Syndrome Association funds research towards Obesity which is the #1 threat to PWS patients’ life expectancy Respiratory which included pulmonary issues to those with PWS Other which includes behavior, appetite suppressors, brain imaging & functioning, etc.

11. Can PWS be Detected Prenatally? Yes it can be detected while in the mother's womb

12. Diagnosis First, it is assessed by the clinic Then, it is confirmed by specialized genetic testing on a blood sampling

13. Diagnosis (cont.) DNA – based testing determines whether the Prader-Willi Critical Region (PWCR) is maternally inherited only This process detects more than 99% of the affected individuals

14. Carriers Carriers cannot be detected! ? ? ? ? ? ?

15. Genetic Testing People get it done in two types: High Resolution Chromosomal Analysis Examination under a microscope It detects large deletions & other chromosomal abnormalities

16. Genetic Testing (cont.) FISH Stands for fluorescence in situ hybridization (often done at the same time as chromosome analysis) This test detects all common or typical deletions

17. Quiz Questions 1.What are two clinical symptoms of Prader- Willi Syndrome? 2.What are two rare symptoms? 3.What is the mode of inheritance? 4.Name one treatment of symptoms. 5.Can Prader-Willi syndrome be detected prenatally?

18. Answers 1.Poor motor skills, mild retardation and learning disabilities 2.Nearsightedness, high pain tolerance 3.Autosomal 4.Weight management 5.Yes

19. Works Cited "Developmental Disabilities." Volunteers of America of Oklahoma. Web. 24 Mar. 2010.<http://www.voaok.org/Services/DevelopmentalDisabilities/tabid/3236/ Default.aspx> "Genetics of PWS." Prader-Willi Association (USA). Web. 28 Mar. 2010.. "Prader-Willi Syndrome." GeneTests. Web. 28 Mar. 2010.. "Prader-Willi Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 28 Mar. 2010. fffff. "Prader-Willi Syndrome - Labhart-Willi Syndrome - Information Page with fdffffHONselect." Health On the Net Foundation. Web. 24 Mar. 2010. fdfdf<http://www.hon.ch/HONselect/RareDiseases/EN/C10.597.606. 643.690.html>. "Prader-Willi Syndrome: EMedicine Pediatrics: Genetics and Metabolic Disease." EMedicine - Medical Reference. Web. 23 Mar. 2010. xcdf.

20. Works Cited (cont.) "Prader-Willi Syndrome: Treatment, Symptoms, Prevention, Cause, Risk, hjhjhjComplications, Long-term Outlook." MamasHealth.com: Simple, Easy to Understand Information about Health. Web. 23 Mar. 2010. gjgjgj. "QUESTIONS AND ANSWERS ON PRADER-WILLI SYNDROME." Prader-Willi gjgjgjAssociation (USA). Web. 28 Mar. 2010..http://www.pwsausa.org/faq.htm