Difference between revisions of "PWS"

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'''What is Prader-Willi Syndrome (PWS)?'''
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== Useful Sites ==
  
Prader-Willi Syndrome is a genetic disorder that occurs in approximately 1 out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. The syndrome is recognized as the most common genetic cause of obesity.
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[www.pwsausa.org]
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[www.pwsplayroom.org]
  
The symptoms of PWS are caused by dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, among them hunger and satiety, temperature regulation, vomiting, fluid balance, puberty, and fertility.
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== Prader-Willi Syndrome (PWS)- Briefly ==
  
'''What are the symptoms of Prader-Willi Syndrome?'''
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* A genetic syndrome that is the most common cause of obesity.
 
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* Three genetic subtypes: deletion, uniparental disomy (UPD), and imprining mutation.
There are two recognized stages of the symptoms associated with PWS.
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* First stage of PWS is characterized by low tone (floppiness) and failure to thrive.
 
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* Second stage of PWS is characterized by a lack of normal hunger and satiety responses.
In the first stage, infants with PWS are hypotonic or "floppy", with very low muscle tone. Weak cry and a poor suckle are typical. Babies with PWS are usually not able to breast feed and frequently require tube feeding.  These infants may suffer from "failure to thrive" if feeding difficulties are not carefully monitored and treated. As these children grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed.
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* There is currently no cure for PWS.
 
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* This Wiki is dedicated to the treatments, both conventional and unconventional, that are believed to improve the quality of life of PWS patients and their families.
An unregulated appetite characterizes the second stage of PWS. This stage most commonly begins between ages 2 and 6 years old. Individuals with PWS lack normal hunger and satiety cues. They are usually not able to control their food intake and will overeat if not closely monitored. Food seeking behaviors are very common. In addition, the metabolic rate of persons with PWS is approximately 60% of normal. Left untreated, these problems in combination will lead to morbid obesity and its many complications.
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In addition to obesity, a variety of other symptoms can be associated with PWS. Individuals are typically cognitively impaired, with measured IQs ranging from moderate mental retardation to low normal; those with normal IQs usually exhibit learning disabilities. Other issues include speech apraxia/dyspraxia, short stature, small hands and feet, scoliosis, sleep disturbances, undescended testicles in males, skin picking behavior, high pain threshold, bedwetting, sterility, and behavioral difficulties such as obsessive-compulsive disorder and difficulty controlling emotions. PWS is a spectrum disorder, however, and symptoms vary in severity and occurrence among individuals.
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'''What causes Prader-Willi Syndrome?'''
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PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, each individual inherits one copy of chromosome 15 from their mother and one from their father. In PWS, the genetic defect causing inactivity of chromosome 15 can occur in one of three ways. Most often, part of the chromosome 15 that was inherited from the person's father is missing, or deleted, in this critical region. This small deletion occurs in approximately 70% of cases and is not detectable with
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routine genetic analysis such as that usually done with amniocentesis.
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Another 30% or so of cases occur when an individual inherits two chromosome 15's from their mother, and none from the father, rather than the usual case where one comes from each parent. This scenario is termed uniparental disomy (UPD). Deletion and UPD are sporadic occurrences and are generally not associated with an increased risk of recurrence in future pregnancies.
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Finally, in a very small percentage of cases, a small genetic mutation in the PWS region causes the genetic material in that area to be inactive. This is termed an imprinting mutation, and in this case, PWS can recur within a family.
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At this time, the mechanism by which the nonfunctioning genetic material on chromosome 15 affects the function of the hypothalamus is unknown.
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'''How is Prader-Willi Syndrome diagnosed?'''
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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 with UPD or an imprinting error. Methylation analysis will detect all three forms of PWS. 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.
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'''Is Prader-Willi Syndrome curable?'''
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There is currently no cure for PWS.
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'''Are there any treatments available for Prader-Willi Syndrome?'''
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Human growth hormone (GH) has been found in multiple studies to be beneficial in treating PWS, and is now FDA approved in the United States for this purpose. GH is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, increasing stamina, and increasing bone mineral density. In addition, at least one study has shown a positive behavioral benefit.
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Many difficult symptoms associated with PWS remain untreated, however. 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
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inconsistent results.
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For more information about PWS and available educational and support services, go to [http://www.pwsausa.org].
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Copyright © 2003 Foundation for Prader-Willi Research.
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All Rights Reserved
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6407 Bardstown Rd.  Ste. 252, Louisville, KY  40291
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Terms of Use and Privacy Statement
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Revision as of 22:45, 27 November 2004

Useful Sites

[www.pwsausa.org] [www.pwsplayroom.org]

Prader-Willi Syndrome (PWS)- Briefly

  • A genetic syndrome that is the most common cause of obesity.
  • Three genetic subtypes: deletion, uniparental disomy (UPD), and imprining mutation.
  • First stage of PWS is characterized by low tone (floppiness) and failure to thrive.
  • Second stage of PWS is characterized by a lack of normal hunger and satiety responses.
  • There is currently no cure for PWS.
  • This Wiki is dedicated to the treatments, both conventional and unconventional, that are believed to improve the quality of life of PWS patients and their families.