Prader-Willi Syndrome

Prader Willi syndrome ( PWS) is a complex genetic disease with neurological and behavioral manifestations caused by abnormality of the 15th chromosome. It affects males and females of all races equally. The prevalence estimates vary from 1:12000 to 1:15000 . The incidence in newborns is unknown. Prader Willi syndrome cause muscle hypotonia, growth failure ( if not treated with growth hormone), cognitive deficits, incomplete sexual development, behavioural problems and a persistent feeling of hunger that can lead to severe hyperphagia and severe obesity, in combination with a metabolism that uses fewer calories than normal. At birth, the newborn is generally underweight, hypotonic, and has difficulty sucking (with consequent slow growth) due to muscular hypotonia. The second phase (excessive growth) begins between 2 and 5 years of age and lasts lifelong and may present hyperphagia problems in the control of body weight and delayed development of motor skills in combination with behavioural disorders. Other factors that can cause problems are adverse reactions to drugs, greatly increased pain threshold, respiratory and gastrointestinal problems, lack of vomiting  and unstable temperature control. Subjects with Prader- Willi syndrome may develop serious medical complications very quickly.

Services offered by the Institute for PWS are

• Medical and specialistic evaluation (neurologist, endocrinologist, geneticist, radiologist, psychologist, neuropsychomotor therapist, physiotherapist)
• Genetic diagnosys
• Biomolecular and cellular research
• Daily Rehabilitation Cycle with overnight ospitality four times a year for a period of 3/4 weeks.
• International Diagnoses Free in collaboration with IPWSO (International Prader Willi Syndrome Organization) in support of some nations in Africa, Asia, South America and East Europe.
• Research project Establishment af an in vitro model of muscle cell derived fibroblasts to study dysregulation of translational capacity in PWS syndrome.

Scientific Publications

• Scientific Publication July 2005
• Scientific Publication 27th Jan 2011

Contributions

Banca Popolare di Vicenza, IBAN: IT 88F0572811810010570009800

Reason for payment: Contributions for PWS Research 

 

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For more informations:

Tel/Fax: + 39 0444 555 557 – + 39 0444 555 034

E-mail: [email protected]