Prader Willi Syndrome

A project by Tykeria Williams

Basic Information

Prader Willi is a rare disorder present at birth that results in a number of physical, mental, and behavioral problems. A key feature is a constant sense of hunger that usually begins after the first year of life. N infant is affected by this disease and problems typically occur one year of birth.


Charecteristics

Prader Willi contains a couple of symptoms. For example, poor muscle tone. Babies may rest with their elbows and knees loosely extends instead of fixed, and they may feel floppy or like "rag dolls". Another example of is distinct facial features. Children born with PWS may be born with almond- shaped eyes, a narrowing of the head at the temples, a turned down mouth, and a thin upper lip. With that , you have the failure to thrive. One year, children may have poor sucking reflex due to decrease of muscle tone. Sucking makes feeding difficult, they tend to gain weight slowly. Adding to it, you have poor responsiveness. A baby may seem unusually tired, respond poorly to stimulation, wake with difficulty or have a weak cry. Daily life for people with PWS, typically have the sudden urge to eat all the time because they never get full. They also get mad very easily and the life expectancy is 50 years.


Cause

The type of mutation that happens during PWS is the absence of expressed genes. The chromosome that is affected is number 15. The name of the gene. That is mutated is MAGEL2.


Treatment

There are a couple of possible treatments. For instance, good infant nutrition, sex hormone treatment, and a healthy diet. There is no cure for this condition.


Other Information

  • Other information is that you don't typically start the urge of hunger until first year of birth.
  • Concerns that people have are weight, behavior, and developement.
  • You also have motor skills.
  • Besides hunger, poor muscle tone is a bug affect of Prader Willi.

The name Prader Willi comes from the pediatrician's Andrea Prader and Heinrich Willi.


Bibliography