Prader Willi Syndrome

An overview of the genetic disorder known as Prader Willi Syndrome.

Transcript

1. Jenny Gainer Advanced Anatomy and Physiology Still hungry for a cure
2. A birth defect resulting from a disorder of chromosome 15.
3. Occurs in 1:12,000 to 1:15,000 Births
4. Poor muscle tone INFANTS distinct facial features failure to thrive strabismus Poor muscle tone weak cry problems sucking&swallowing small for gestational age poor eye coordination EARLY CHILDHOOD food craving weight gain underdeveloped sex organs learning disabilities speech problems behavioral problems sleep disorders delayed motor development poor growth & physical development
5. special genetic testing is used to diagnosis. testing is accurate to 97%. early diagnosis allows for early intervention. due to medical communities unfamiliarity with pws, a large number of cases go undiagnosed.
6. there is no cure, thus treatment is conducted by managing symptoms. good nutrition. growth hormone treatment. sex hormone treatment. developmental therapy.
7. patients with pws can expect to accomplish much of the same things as their peers. specialized care and supervision is required to help mitigate symptoms. new medications are being used to treat symptoms and help those with pws lead better lives.