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>.