prader – willi syndrome
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Prader – Willi Syndrome
By Ria Gulati & Ami BulsaraPeriod 4
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
Rare Symptoms
• Nearsightedness
• Light skin compared to other family members
• High pain tolerance
• Skin picking
Problems Associated with Disease
• Constant feeling of hunger leads to obesity
• The overeating could become uncontrollable and be life-threatening
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
Mode of InheritanceIs Prader – Willi Syndrome autosomal or sex-linked?
Autosomal
Caused by aChromosomal 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
Treatment of Symptoms
Injection of hormones to speed up hormonal
growth
Weight management
Change of diet
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
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.
Can PWS be Detected Prenatally?
Yes it can be detected while in the mother's womb
Diagnosis
• First, it is assessed by the clinic• Then, it is confirmed by specialized genetic
testing on a blood sampling
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
Carriers
Carriers cannot be detected!
??
????
Genetic TestingPeople get it done in two types:
High Resolution Chromosomal Analysis• Examination under a microscope• It detects large deletions & other chromosomal
abnormalities
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
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?
Answers
1. Poor motor skills, mild retardation and learning disabilities
2. Nearsightedness, high pain tolerance3. Autosomal4. Weight management5. Yes
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. <http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm>.
"Prader-Willi Syndrome." GeneTests. Web. 28 Mar. 2010. <http://www.geneclinics.org/profiles/pws/details.html>.
"Prader-Willi Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 28 Mar. 2010. fffff<http://ghr.nlm.nih.gov/condition=praderwillisyndrome>.
"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<http://emedicine.medscape.com/article/94795z4-overview>.
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<http://www.mamashealth.com/syndrome/prader.asp>. "QUESTIONS AND ANSWERS ON PRADER-WILLI SYNDROME." Prader-Willi gjgjgjAssociation (USA). Web. 28 Mar. 2010. <http://www.pwsausa.org/faq.htm>.
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