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Prader-Willi Syndrome

Overview :

The first patients with features of PWS were described by Dr. Prader, Dr. Willi, and Dr. Lambert in 1956. Since that time, the complex genetic basis of PWS has begun to be understood. Initially, scientists found that individuals with PWS have a portion of genetic material deleted (erased) from chromosome 15. In order to have PWS, the genetic material must be deleted from the chromosome 15 received from one's father. If the deletion is on the chromosome 15 inherited from one's mother a different syndrome develops. This was an important discovery. It demonstrated for the first time that the genes inherited from one's mother can be expressed differently than the genes inherited from one's father.

Over time, scientists realized that some individuals with PWS do not have genetic material deleted from chromosome 15. Further studies found that these patients inherit both copies of chromosome 15 from their mother. This is not typical. Normally, an individual receives one chromosome 15 from their father and one chromosome 15 from their mother.

Scientists are still discovering other causes of PWS. A small number of patients with PWS have a change (mutation) in the genetic material on the chromosome 15 inherited from their father. This mutation prevents certain genes on chromosome 15 from working properly. PWS develops when these genes do not work normally.

Newborns with PWS generally have poor muscle tone, (hypotonia) and do not feed well. This can lead to poor weight gain and failure to thrive. Genitalia can be smaller than normal. Hands and feet are also typically smaller than normal. Some patients with PWS have unique facial characteristics. These unique facial features are typically subtle and detectable only by physicians.

As children with PWS age, development is typically slower than normal. Developmental milestones, such as crawling, walking and talking occur later than usual. Developmental delay continues into adulthood for approximately 50% of individuals with PWS. At about one to two years of age, children with PWS develop an uncontrollable, insatiable appetite. Left to their own devices, individuals with PWS will eat until they suffer from life-threatening obesity. The desire to eat can lead to significant behavior problems.

The symptoms and features of PWS require life long support and care. If food intake is strictly monitored and various therapies provided, individuals with PWS have a normal life expectancy.

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