Gourt > Health > Conditions and Diseases > Genetic Disorders > Prader Willi Syndrome
Prader-Willi Syndrome is a genetic disorder in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion). It was identified in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, and Guido Fanconi of Switzerland. The incidence of PWS is between 1 in 12,000 and 1 in 15,000 live births.
Originally, PWS was diagnosed by clinical presentation and diagnosis was typically made later in life. Currently, infants are diagnosed through genetic testing. In fact, genetic testing for PWS is recommended for newborns with pronounced hypotonia. Early diagnosis of PWS allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) shots are indicated for children with PWS. GH can be given from birth.
Traditionally, PWS is characterized by hyperphagia and food preoccupations, as well as small stature and mental retardation *. Early diagnosis and the administration of growth hormone appears to be having a dramatic effect, however, on clinical presentation of individuals with the syndrome. In 2000, the US Food and Drug Administration (FDA) approved the use of growth hormone treatment for treating symptoms related to PWS. Consequently, the cohort of infants treated with PWS from birth are at best kindergarten age. This group appears to be quite different from individuals who are untreated. While these differences have not yet been documented in a peer-reviewed study, anecdotal reports suggest that the three main characteristics of food preoccupation, mental retardation, and small stature may not become manifest when GH therapy is initiated in the first year of life.
More on [ Prader-Willi syndrome ]
Chromosomal :: Neurological Disorders
Obesity :: Nutrition and Metabolism Disorders
Causes :: Mental Retardation
Autism Spectrum :: Neurodevelopmental
#Prader-Willi News types of eating disorders: Prader-Willi Syndrome is caused by presence of abnormal genes. Suffer... http://bit.ly/8zI3dS
jenrink (Jen Rink) Thu, 17 Dec 2009 00:42:32 -0000
#Prader-Willi News types of eating disorders: Prader-Willi Syndrome is caused by presence of abnormal genes. Suffer... http://bit.ly/8zI3dS
Legal rights of people with intellectual disabilities and research into Prader Willi syndrome. (Australian Broa.. http://bit.ly/5KFOx8
hghsupplements (HGH Supplements 365) Tue, 15 Dec 2009 03:42:04 -0000
Legal rights of people with intellectual disabilities and research into Prader Willi syndrome. (Australian Broa.. http://bit.ly/5KFOx8
Legal rights of people with intellectual disabilities and research into Prader Willi syndrome.|Professor Tony .. http://oohja.com/x3DRq
onlinespeech (Mary Ellingsen) Tue, 15 Dec 2009 03:00:56 -0000
Legal rights of people with intellectual disabilities and research into Prader Willi syndrome.|Professor Tony .. http://oohja.com/x3DRq
Listen: Monday 08:42 Legal rights of people with intellectual disabilities and research into Prader Willi syndrome.... http://bit.ly/5bBabL
abcscience (ABC Science &Hea) Mon, 14 Dec 2009 04:17:10 -0000
Listen: Monday 08:42 Legal rights of people with intellectual disabilities and research into Prader Willi syndrome.... http://bit.ly/5bBabL
#Prader-Willi News Latham Centers. . . Prader-Willi Syndrome and Beyond: This Just In ...: They are asking people t... http://bit.ly/808n7R
jenrink (Jen Rink) Sat, 12 Dec 2009 03:45:51 -0000
#Prader-Willi News Latham Centers. . . Prader-Willi Syndrome and Beyond: This Just In ...: They are asking people t... http://bit.ly/808n7R
Golf News | Golfweek | Lindley helping fight Prader-Willi syndrome: http://bit.ly/4FZfqk via @addthis
golfheadcovers (Diane McIntosh) Fri, 11 Dec 2009 15:34:37 -0000
Golf News | Golfweek | Lindley helping fight Prader-Willi syndrome: http://bit.ly/4FZfqk via @addthis
Gretton Homes - Information about the organization that offers residential care for people with Prader-Willi Syndrome.
Meta Description: [ Gretton Homes aims to provide the highest possible standard of care for those living in any of our homes ]
Prader-Willi Alliance of New York - Represents the interests of individuals in New York State with Prader-Willi syndrome, their families, and the professionals who provide services to the Prader-Willi population.
Prader-Willi Syndrome - Suite101 - A forum to provide a support base for PWS without having to join one of the national or international associations, and to make people more aware of PWS.
Prader-Willi Syndrome Association (USA) - Characteristics include hypotonia, insatiable appetite, obesity if food intake is uncontrolled, hypogonadism and incomplete sexual development, developmental delays, variable degrees of mental retardation or functional retardation, short stature (adult), small hands and feet, mild dysmorphology, and behavior problems which can be severe.
Meta Description: [ Prader-Willi Syndrome Research and Support National Organization ]
Prader-Willi Syndrome Association of South Africa - Informative regarding PWS, its symptoms, causes, prevention and treatment.
Meta Description: [ Prader-Willi Syndrome Association of South Africa. PWS is an inherited disease characterised by hypotonia, insatiable appetite, underdeveloped genitals, short adult stature, delayed developmental milestones, variable degree of mental or functional retardation, ... ]
Prader-Willi Syndrome Association of Victoria (Australia) - Includes details about the organization, a diagnosis/infant guide, a general guide, members stories and links.
Meta Description: [ The Australian Prader-Willi Syndrome Web Site - information on Associations, Infants, PWS overview, Library, Members Stories and links. ]
PWS Notes - Designed to provide useful background on Prader-Willi Syndrome (PWS) for parents and to organize medical information that may be helpful for future research directions.
The Foundation for Prader-Willi Research - A non-profit group of volunteer families, friends and researchers aiming to raise funds for research into finding treatments.
Meta Description: [ The Foundation for Prader-Willi Research funds research looking for treatments and a cure for Prader-Willi syndrome. ]
The New Jersey Chapter of the Prader-Willi Syndrome Association - Includes news, important dates, fund raising, maps and links.
The Prader-Willi Syndrome Association (UK) - Information and resources about this chromosomal disorder.
Meta Description: [ A description of Prader-Willi Syndrome and the Association that supports people and families who deal with it ]
Williams Syndrome and Prader-Willi Syndrome - Diagnostic assessment, selected treatment services and opportunities to participate in research from the Yale University Child Study Center.
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