How is Prader-Willi Syndrome diagnosed?
A suspected diagnosis of PWS is usually made by a physician based on clinical symptoms. The diagnosis is then confirmed by a blood test. Two types of tests can be used to confirm the diagnosis. A “FISH” (fluorescent in situ hybridization) test will identify those patients with PWS due to a deletion, but will not identify those who have Prader-Willi syndrome by “UPD” (uniparental disomy) or via an imprinting error. Methylation analysis will detect all three forms of Prader-Willi, so if PWS is suspected but a FISH test is negative, a DNA methylation test is warranted.
Almost all cases of PWS can be confirmed by one of the above tests. However, in the rare event that laboratory tests do not confirm PWS, a clinical diagnosis can be helpful for the development of a management plan.
Is Prader-Willi Syndrome curable?
Currently there is no cure for PWS. Only increased research offers hope for more effective treatments and an eventual cure.
Are any treatments available for Prader-Willi Syndrome?
In multiple studies, human growth hormone (HGH) has been found to be beneficial in treating Prader-Willi syndrome. In June of 2000, HGH was officially recognized by the Federal Drug Administration (FDA) in the United States and other countries for use in patients with Prader-Willi syndrome.
HGH is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, improving weight distribution, increasing stamina, and increasing bone mineral density. In addition, at least one study has shown a positive behavioral benefit.
Despite this, many difficult symptoms associated with PWS remain untreated. To date, no effective medications have been found to regulate appetite. Inability to control food intake is often the biggest obstacle keeping those with PWS from living independently. In addition, medical treatment of the psychiatric and behavioral issues associated with PWS has produced inconsistent results.
Another excellent resource, especially for those living in the UK or Europe, is the PWSA (UK) website. The site has information for parents, caregivers, and others interested in learning more about PWS. A number of forums are available on the site for discussing PWS-related topics.