Prader+Willi+Syndrome

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 * __Prader Willi Syndrome __ **

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[|Prader Willi Syndrome Video] []

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 The name of my disorder is prader willi syndrome. It's commonly known and abbreviated as PWS.

__**Mode of Inheritance**__ Prader Willi can be an autosomal dominant trait. This disorder is caused by a lack of genetic material in a chromosome. It is generally in chromosome 15 (15q11-q13). The child normally inherits one copy of the chromosome from the mom and one from the dad. The genes are normally only active in the chromosome recieved from the dad. Defect of this chromosome can happen in 3 different ways: __**Deletion:**__ Part of the chromosome 15 that was recieved from the father is missing or deleted. __**Uniparental Disomy aka UPD:**__ Occurs when the child inherits 2 chromosome 15s from the mom and none from the dad. __**Impriting Mutation:**__ Occurs when mutation in the prader willi region causes the genetic material to be inactive.

The features of this disorder include the child having a narrow face, almond shaped eyes, a small appearing mouth, full cheeks, morbid obesity, short stature, and both small hands and feet. As an infant Prader Willi can affect the childs growth and development, causing the child to have a hard time growing and gaining weight. Because of their weakness, the infant isn't able to drink from a bottle, so special feeding techniques may be used until he or she is strong enough, muscle wise. Between the ages of one and six, the child will gain a strong interest in food and start overeating. The child will never feel full after eating and this may cause the parents to have to lock the fridge and cabinets, to restrict the access of food. The rate of the child's growth will slow down and he or she will become excessively overweight. They have problems such as reduced or absent secretion of sex hormones and delayed or incomplete sexual development. Mild to moderate behavior learning problems, behavior problems such as obsession, compulsion, stubborness, and temper tantrums. Skin picking, controlling emotions, sleep disturbances with excessive daytime sleepiness, extremely flexible, and can be prone to diabetes. This genetic disorder can be life threatening if not treated or maintained properly, causing life threatening obesity.
 * __ Clinical Description of the Disorder __**

PWS cannot be cured, but exercise and physical activity can help control the weight. Human growth hormones are helpful in treating it. They help to increase height, decrease body fat, and increase muscle mass. Early diagnosis can help parents learn about the condition and prepare for future challenges. Prader Willi Syndrome is found in 1 of every 12,000 to 15,000 people in boys, girls, and people of all ethnic backgrounds.
 * __ Treatment __**

The suspicion of Prader Willi Syndrome is assessed clinically and can be confirmed by specialized genetic testing on bleed samples. A methylation test will identify all types of PWS and this is the preferred test for early detection. PWS can also be detected prenatally. Mothers that have experienced normal pregnancies without reporting delayed or reduced fatal activity while expecting with a child that has Prader Willi is the main way it can be detected. But obstetricians don't always detect the failure of fetal activity with the ultrasound investigation. The chromosome analysis will only detect a portion of the patients with PWS. The new tests to identify a deletion (flourescence in situ hybridization or FISH) or uniparental disomy 15 will now identify about 99.9% of the cases of the disorder.
 * __Detection__**


 * __Sources__**
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* This page was created by Megan Parks.