Prader-Willi Syndrome is a chromosomal defect present at birth that is the most commonly known genetic cause for obesity in children. Prader-Willi Syndrome (PWS)is mostly known for its feeling of constant hunger. People who suffer from PWS stuggle with their weight and often develop obesity.
PWS is a genetic mutation that occurs on the a person's fifteenth chromosome. Although scientists have yet to pinpoint its exact defect, they believe it occurs because the genetic information is turned off, and therefore the neccessary information on that gene is not being expressed. This could be caused by:
- Genes missing on the fifteenth chromosome
- Two maternal chromosomes (instead of one from the mother and one from the father)
- The defect of a gene on the chromosome
Symptoms for those suffering from PWS vary by age.
In Infants, the symptoms of the disease can be:
- poor muscle tone, distinct facial features, failure to thrive, lack of eye coordination (strabismus), generaly poor responsiveness.
Infants with PWS often have the appearance of a "rag-doll" because their poor muscle tone does not allow them to hold themselves up or have total control of their limbs.
In Early Childhood, the symptoms change. As your body develops the disease effects different qulaities of the body.
- These include: food craving and weight gain, underdeveloped sex organs (which may lead to sterility), poor growth and physical development, learning disabilities,
delayed motor development, speech and behaviorial problems, and scoliosis.
People with PWS also can develop obesity as a complication from the weight gain.
Detections (Current Tests)EditThe first diagnosis is based on a physicians clinical examination. If symptoms of the disease are present then tests are conducted to
prove it is Prader-Willi Syndrome. A blood test is usually given to test for the disease. There are two types of tests that can be given
to test for the disease. One is the "FISH" (fluorescent in situ hybridization) test which identifies PWS caused by deletion. The other is
Methylation analysis. This detects if PWS was caused by imprinting error, "UPD" (uniparental disomy), and deletion.
Treatment Options and MedicationEdit
In many experiments scientists have used Human Growth Hormone (HGH) and has been found to be beneficial to patients with PWS.
In June 2000 the FDA or Food Drug Administration approved the use of HGH for patients with Prader-Willi Syndrome. HGH has a positive
effect on restoring normal height and weight as well as behavior and development. Some symptoms; however, remain to cause problems such
as appetite. Physcological and behavioral attitudes also produce inconsistent results and thus cannot be completely treated by HGH.
Some forms of PWS can be treated with simple life style changes such as a healthier diet, good infant nutrition, mental health care, or any other form of
overrall development or therapy.
Life Expectancy and QualityEdit
Most people with PWS are able to live just as anyone else does as long as their weight is controlled. If it is not controlled, those with PWS may suffer from
obesity that can lead to a stressful lifestyle, and in some extreme cases, death. Very few are able to have a family, though, because they can become sterile
as a result of their underdeveloped sex organs.
Inheritance of PWSEdit
PWS is only inherited in a small percentage of cases (less than 2%) because most people with this syndrome cannot reproduce. This genetic disorder is mainly
caused by a mutation in the DNA that occurs when the fetus is developing. It can also be developed after birth as the result of serious head trauma.
PWS is estimated to affect one in every twelve to fifteen thousand people. It affects people of all races, genders, and ages.
By Victoria Cooper and Matt Stolte