Prader-Willie SyndromeBCC summer 2009 bioinformatics workshop

By:Ndeye Magatte Kane

What is prader-willi syndrome?

Bronx Academy of health careers

Prader-Willi syndrome is a rare disorder present at birth that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins after the first year of life. People with this syndrome eat a lot and have trouble controlling their weight.

The causes of pws: Prader-Willi syndrome is a genetic disorder, a

condition caused by an error in a gene or genes. Although the exact genes responsible for Prader-Willi syndrome haven't been identified, the problem is known to lie in a particular region of chromosome 15. With the exceptions of genes related to sex characteristics, all genes come in pairs, one copy inherited from your father (paternal gene) and one copy inherited from your mother (maternal gene). For most types of genes, if one copy is "active," or expressed, then the other copy is also expressed. However, some types of genes act alone. In other words, it's normal with certain genes for the paternal gene to be expressed and the maternal gene to be "silent." Therefore, if there's an error with the paternal gene, that piece of genetic information is essentially missing.

The symptoms of pws: Almond-shaped eyes Delayed motor development Floppy newborn infant Insatiable appetite, food craving Irregular areas of skin that look like

bands, stripes, or lines Narrow bifrontal skull Rapid weight gain Skeletal (limb) abnormalities Slow mental development Undescended testicles in the male

infant Very small hands and feet in

comparison to body

The treatments and drugs:Growth hormone treatment. Human growth hormone stimulates growth and influences the body's conversion of food into energy (metabolism). Some studies have suggested that growth hormone treatment in children with Prader-Willi syndrome helps increase growth and decrease body fat, but the long-term effects of growth hormone treatment aren't known. A doctor who treats hormonal disorders (endocrinologist) can help determine whether your child would benefit from growth hormone treatment. Healthy diet: a nutritionist may help you develop a healthy, reduced-calorie diet to keep your child's weight under control while ensuring proper nutrition.

The risk factor of pwsDefective or missing portions of paternal genes responsible for Prader-Willi syndrome usually occur randomly. This means that in most instances, Prader-Willi syndrome can't be prevented. However, in a small number of cases, a genetic mutation inherited from the father may cause Prader-Willi syndrome. If you have a child with Prader-Willi syndrome and would like to have another baby, consider seeking genetic counseling. A genetic counselor may help determine your risk of having another child with Prader-Willi syndrome.

complicationsType 2 diabetes. Type 2 diabetes is high blood sugar level due to your body's inability to use insulin efficiently. Insulin plays a vital role in making blood sugar (glucose) — your body's fuel — available to your cells. Obesity significantly increases the risk of diabetes.Heart disease and stroke. People who are obese are more likely to have high blood pressure, hardened arteries, high cholesterol and other factors that can lead to heart disease and stroke.Arthritis. Excess weight can cause the bone and cartilage of joints to wear down, resulting in osteoarthritis. Sleep apnea. This sleep disorder is characterized by pauses in breathing during sleep. The disorder can cause daytime fatigue, high blood pressure and, rarely, sudden death. People with Prader-Willi syndrome may have sleep apnea or other sleep disorders even if they aren't obese, but obesity can worsen sleep problems.

Acknowledgment GOD MS. MCMAHON DR. BRENNAN ERIC KONADU DR. SAT HCS BRONX COMMUNITY COLLEGE