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PWSA (USA) is an
organization of families and professionals
working together to promote and fund research,
provide education, and offer support to enhance
the quality of life of those affected by
Prader-Willi syndrome. |
What is Prader-Willi syndrome?
- Prader-Willi syndrome (PWS) is the most common known genetic
cause of life-threatening obesity in children. Although the
cause is complex it results from an abnormality on the 15th
chromosome. It occurs in males and females equally and in all
races. Prevalence estimates have ranged from 1:8,000 to 1:25,000
with the most likely figure being 1:15,000.
PWS typically causes low muscle tone, short stature if not
treated with growth hormone, incomplete sexual development, and
a chronic feeling of hunger that, coupled with a metabolism that
utilizes drastically fewer calories than normal, can lead to
excessive eating and life-threatening obesity. The food
compulsion makes constant supervision necessary. Average IQ is
70, but even those with normal IQs almost all have learning
issues. Social and motor deficits also exist. At birth the
infant typically has low birth weight for gestation, hypotonia
(weak muscles), and difficulty sucking due to the hypotonia
which can lead to a diagnosis of failure to thrive. The second
stage (“thriving too well”), has a typical onset between the
ages of two and five, but can be later. The hyperphagia (extreme
unsatisfied drive to consume food) lasts throughout the
lifetime. Children with PWS have sweet and loving personalities,
but this phase is also characterized by increased appetite,
weight control issues, and motor development delays along with
some behavior problems and unique medical issues.
- History
- The Genetics
- Frequently Asked Questions
- Basic Facts
- Diagnostic Criteria
- The Genetics of
Chromosome 15
- Genetic
Testing
- Glossary of terms
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Overview and Management -
Medical Home Portal Development, UT
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Be Informed:
 Telephone (800) 926-4797 |
