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Prader willi syndrome


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Prader willi syndrome

  1. 1. PRADER WILLI SYNDROME Esther Ogbu Andrea Johnson Tina Glendadakis
  2. 2. WHAT IS PRADER WILLI SYNDROME?  Prader–Willi syndrome (PWS) is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome.  It was first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland
  3. 3. CHARACTERISTICS  Symptoms are believed to be 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 like, hunger and satiety, temperature and pain regulation, fluid balance, puberty, emotions, and fertility.  Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is unclear how the genetic abnormality causes hypothalamic dysfunction.  There are two generally recognized stages of the symptoms associated with PWS
  4. 4. WWW.FPWR.ORG/ABOUT-PRADER-WILLI-SYNDROME Stage 1 In the first stage, infants with PWS are hypotonic or "floppy", with very low muscle tone. Weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed 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. Stage 2  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 usually are 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 lower than normal.  Left untreated, the combination of these problems will lead to morbid obesity and its many complications.
  5. 5. OTHER CHARACTER ISTICS o Prader-Willi syndrome is considered a spectrum disorder, meaning not all symptoms will occur in everyone affected and the symptoms may range from mild to severe. o People with Prader-Willi often have some mental strengths as well, such as skills in jigsaw puzzles. o If obesity is prevented, people with the syndrome can live a normal lifespan. o Behavioral problems, usually during transitions and unanticipated changes, such as stubbornness or temper tantrums o Delayed motor skills and speech due to low muscle tone o Cognitive problems, ranging from near normal intelligence to mild mental retardation; learning disabilities are common o Repetitive thoughts and verbalizations o Collecting and hoarding of possessions o Picking at skin o Low sex hormone levels
  6. 6. FISH (fluorescence in situ hybridization)  A cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues.
  7. 7. Methylation of mammalian DNA has long been recognized to play a major role in different cellular functions as development or control of gene expression and is generally associated with transcriptional repression. MethylCollector™ Ultra fast magnetic assay for specific isolation of CpG-methylated DNA MethylCollector™ Ultra offers a fast magnetic assay capable of efficiently isolating methylated CpG islands from fragmented genomic DNA*. Price $480
  8. 8. TREATMENT 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 Decreasing body fat, increasing muscle mass  Improving weight distribution  Increasing stamina,  Increasing bone mineral density 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.
  9. 9. OTHER TREATMENTS Exercise and physical activity can help control weight and help with motor skills. Speech therapy may be needed to help with oral skills.