Research Report: Prader-Willi Syndrome
All my life I have grown up in the company of a Godmother, mother to a daughter(Alexia) with Prader-Willi Syndrome (PWS). I never fully understood the syndrome and noticed not many people around me did either. For me to be supportive and help Alexia’s needs I need to understand this disorder Prader-Willi, and the implications it has. Therefore I investigated, what is PWS, the treatments and the affects on family lives.
What is Prader-Willi Syndrome?
Prader-Willi Syndrome is a genetic disorder with abnormality on the 15th chromosome affecting 1 in 15,000 births. Usually when babies are in gestation they receive 23 chromosomes from each parent which are then matched up with 23 from the other parent all allocated for specific duties. In a child affected by PWS, 70% are missing genetic material from the fathers’ chromosome, or have a deletion of the chromosome resulting in having two chromosome 15 inherited from the mother. However, this genetic disorder has no blame; so far it is an accidental occurrence during conception. The deletion or genetic material missing on the chromosome causes a deficiency in the hypothalamus area of the brain, which initiates the disorders main problem, insatiable hunger. Therefore a person with PWS never feels full and could eat until their stomach ruptures, “A person with PWS is like an alcoholic with food.” As stated by Jo Gibbons a mother of a child with Prader-Willi. They know no social boundaries when it comes to food and accessing it which triggers the irrational outburst behaviour that is also involved with a child of PWS, it’s important to note that they don’t have major outburst to make your life hell, but it’s simply an uncontrolled reaction which is a result of their insatiable appetite.
Other characteristics include:
-Weak muscle tone/Hypotonia
-Floppiness as a baby
The average IQ is 70, they may find...