SYMPTOMS OF PWS:
PWS is a spectrum disorder so that symptoms vary in occurrence as well as severity for each individual.
Stage 1 – Infants
- hypotonia – low muscle tone; “floppy” muscles
- weak cry
- poor sucking reflex
- delayed motor development
Stage 2 – Starts between 2 to 3 years of age
- hyperphagia – inability to feel satietated leading to overeating and food-seeking behavior, which in turn results in morbid obesity if unmanaged.
Other common issues:
- cognitive challenges – low IQs and/or learning diabilities
- speech apraxia/dyspraxia
- short stature, small hands and feet
- scoliosis
- sleep disturbances with excessive daytime sleepiness
- undescended testicles in males
- skin picking behavior
- high pain threshold
- sterility
- behavioral difficulties
CAUSE OF PWS:
Prader-Willi Syndrome is caused by the lack of genetic material in the chromosome 15 from the father. This happens due to:
- Deletion – This means that part of the chromosome 15 inherited from the father is simply missing.
- Uniparental Disomy (UPD) – This means that there are two chromosome 15s inherited from the mother with none coming from the father.
- Imprinting Mutation – This means that the chromosome 15 from the father is intact but for some unknown reason a certain part of it is nonfunctional.
CURE:
Currently there is no cure for Prader-Willi Syndrome.
