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Prader Willi Syndrome Diagnosis & Treatments. Rep. Web. 13 Mar. 2011. <http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments>.

 

"Prader Willi Syndrome Coping and Support." Mayo Clinic. Mayo Clinic Staff. Web. 13 Mar. 2011. <http://www.mayoclinic.com/health/prader-willi-syndrome/DS00922/DSECTION=coping-and-support>.

 

"Links and Resources." Prader-Willi Research Association. Web. 13 Mar. 2011.

 

"Prader Willi Syndrome Support Group." Daily Strength. Web. 13 Mar. 2011.

 

"Support." Prader-Willi Syndrome Association. Web. 13 Mar. 2011.

 

"Adults with Prader-Willi Syndrome and Decisions Regarding Least Restrictive Environment and Right to Eat." Prader-Willi Syndrome Association. Web. 13 Mar. 2011.

 

"Basic Facts About PWS:." Prader-Willi Syndrome Association. Web. 13 Mar. 2011.

 

"Prader-Willi Syndrome." Editorial. New York Times. Web. 13 Mar. 2011.

 

"Tests and Diagnosis." Mayo Clinic. Web. 13 Mar. 2011.

 

"Genetic Counseling." Human Genome Project Information. Web. 13 Mar. 2011.

 

 

 

 

 

 

 

 

What is a genetic counselor?

 Genetic counselors are health professionals that provide help and support to families with a member that has a birth defect or genetic disorder. They also analyze inheritance patterns of a disease in a family, and review options for the family. In order to be a genetic counselor, you need specialized  graduate degree, and experience in medical genetics and counseling.

How does a person inherit this disease?

PWS is a chromosomal abnormality. On chromosome 15, the paternal half is absent.

Describe abnormality:

About 70% of cases come from a non inherited deletion in the paternally contributed portion of chromosome 15.
About 25% have two maternal chromosome 15s and no paternal chromosome 15.
2-5% derived from an error imprinting, which results in the paternal contribution being dysfunctional.

How prevalent is this disease in the population?

In both sexes and all races, the prevalence is 1 in 12,000-15,000.

What are the chances of a person with this disease passing it onto their offspring?

Since about 70% of cases are from a non inherited deletion in the paternally contributed chromsome 15, there is not a good chance the offspring will inherit the disease.

how is the disease daignosed?

There may be signs of the disease at birth. Newborns will be floppy and small. Labratory tests will be done to give a definite diagnosis.

What are the physical symptoms of Prader-Willi Syndrome?

A person with the disease will have hypopigmentation (which is fair hair and skin compared to the rest of their family), small hands and/or feet, narrow hands with a straight ulnar border, speech articulation defects, eye abnormalities, thick saliva with some crusting at the corners of their mouth, almond shaped eyes, narrowing of the head at the temples, and obesity.

What is the life expectancy of a person with Prader-Willi Syndrome?

A person with PWS will be able to have a normal life expectancy if they contol their weight, since general health is good in patients.

How can the disease be treated?

Since obesity is the greatest health problem, litmiting food intake will help control that. Exercise will also help to increase the lean body mass.
Growth hormones have been used to improve agility and physical strength in Prader-Willi Syndrome Patients. But, there have been some concerns with the growth hormones regarding lung function, so you should discuss the growth hormone option with a doctor.
Tesosterone has been used to correct the small penis in an infant boy.
At Puberty, hormone replacement has been used to correct low levels of sex hormones.

What is everyday life like? What is the quality of life?

The quality of life has improved over the past twenty years. If the weight of the person is controlled, then the life expectancy will likely be normal. Although, the constant need of restriction on food, and behavior management mayput a strain on the family. Family counseling may be needed.

What limitations will the person have?

A person with Prader-Willi Syndrome will need to be careful with their food intake. Since there is a genetic inanbility to satisfy hunger, with a decreased utilization of calories, the person will need to watch how much they eat. If they do not, they may over-eat. Over time, this will ead to obesity.

What are some organizations that can help a family cope with a child's disorder?

Here are some websites to help a family cope:

http://www.dailystrength.org/c/Prader-Willi-Syndrome/support-group

http://www.pwsausa.org/links/

http://www.pwsausa.org/support/

How possible is it that a cure will be found?

As of right now, there is no cure for Prader-Willi Syndrome. But, there is research being done for new treatments, and eventually a cure.