A presentation...
Prader Willi
Syndrome
A basic Summary
What is Prader Willi What are the The impact on
Syndrome? How is symptoms? family/personal
it inherrited? Treatments? lives.
Presentation Dictionary
Critical region: An important area in a chromosome that has a part in
brain development and function, metabolism, and is associated with
disorders such as Prader-willi syndrome and Angelman syndrome.
Chromosome: “a threadlike structure of nucleic acids and protein found
in the nucleus of most living cells, carrying genetic information in the
form of genes.”
What is Prader Willi Syndrome?
Rare genetic disorder caused by the
loss of some genes in chromosome
15.
Physical, mental, and behavioural
problems
Constant sense of hunger
Low metabolism
How is PWS Inherrited
PWS is inherited by a malfunction in
chromosome 15.
PWS by deletion
PWS by UPD (Uniparental Disomy)
PWS by Methylation Defect
Father Mother
PWS by Deletion
Part of the chromosome
from the father in the
critical region is deleted
This occurs in 70% of cases
Mother Mother
PWS by UPD
When the mother donates 2
chromosome 15, where the
father doesn’t donate one
at all.
This occurs in 30% of cases
Father Mother
PWS by Methylation Defect
When the parental chromosome 15
gene is present, but inactive.
Only happens to 1-3% of cases.
Symptoms
Infant symptoms of PWS
Hypotonia (Weak muscles)
Bad responsiveness
Distinct facial features
Childhood symptoms of PWS
Constant hunger
weight gain
Poor growth/physical
development
speech problems
Impacts on people
and society
Video
People with PWS are more likely to:
Be socially excluded and iscolated
Have learning disabilities
Most adults with PWS can’t live
independently such as having their own
home or full time jobs
Are there any
treatments for PWS?
There is no cure for PWS
Ways to manage PWS:
IV feeding as an infant, then switching to
normal feeding
Start with a healthy diet and mealtimes as
soon as they start to eat solid foods
lock up access to food
A presentation...
Prader Willi
Syndrome
