Prader-Willi Syndrome.

Essay by melsayUniversity, Bachelor'sA+, July 2003

download word file, 3 pages 0.0

Prader-Willi Syndrome is a genetic disorder that causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.

In 1956, when the medical world first learned about Prader-Willi syndrome, doctors had no idea what caused people to have this collection of features and problems that we now know as PWS. It is only in the last 20 years that researchers have discovered the genetic changes that are responsible for the syndrome.

PWS is attributed to a spontaneous genetic error that occurs at or near time of conception for unknown reasons. The incidence of this syndrome is 1/10,000- 1/25,000 live births. Occurring in both sexes and all races. Although considered a "rare" disorder, Prader-Willi Syndrome is one of the most common conditions seen in genetic clinics, and is the most common genetic cause of obesity that has been identified.

The occurrence of PWS is due to the lack of several genes on one of an individual's two chromosome 15's, the one normally contributed by the father. In the majority of the cases, there is a deletion of chromosome 15; the critical genes are somehow lost from the chromosome. Deletion happens for no known reason, and it is not likely to happen in another pregnancy.

PWS is not usually an inherited condition; it just happens.

Clinical features begin during the gestational period. 1) Reduced fetal activity (76%), 2) Nonterm delivery (41%), and 3) Breech presentation (26%). During infancy, Gross motor developmental delay (98%), infantile decreased muscle tone (94%), feeding difficulties with or without failure to thrive (93%), and low birth weight (30%), present themselves. Neurological manifestations may include mental retardation (97%), skin picking (79%), personality problems (41%), and seizures (20%). Endocrine manifestations can include, undersized...