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Doctor insights on: Prader Willi Syndrome

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Can you tell on a karyotype if someone has prader-willi syndrome?

Can you tell on a karyotype if someone has prader-willi syndrome?

Sometimes: Prader-willi syndrome can be caused by a deletion in chromosome 15 that is visible on routine cytogenetic analysis. Other patents have a submicroscopic deletion that is only visible by fish analysis or cgh microarray. Still others have the syndrome because of uniparental disomy detectable by a methylation study. ...Read more

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Dr. Leslie Benson
82 doctors shared insights

Prader Willi Syndrome (Definition)

Prader-Willi syndrome ...Read more


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When do the first symptoms of prader-willi syndrome appear. And how does this condition progress?

At birth : Children born with pws often have difficulties with tone from birth and therefore difficulty feeding. Boys may have undescended testes. Symptoms like insatiable appetite generally don't become apparent until the child is about 2-3 years-old. Pws patients are usually short and also have developmental delays. ...Read more

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How do you diagnose prader willi syndrome?

How do you diagnose prader willi syndrome?

Dysmorphic features: Children with prader-willie syndrome have dysmorphic features and are hypotonic at birth. Initially have poor weight gain and later on develop obesity ' short stature, hypogonadism and developmntal delay. ...Read more

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What are the tests for prader-willi syndrome?

What are the tests for prader-willi syndrome?

See below:: High resolution chromosomal analysis; fish (stands for fluorescence in situ hybridization, often done at the same time as a chromosome analysis); and new molecular tests: dna methylation test (confirms or rules out pws as a diagnosis, with over 99% accuracy);dna polymorphism studies (done to detect upd-uniparental disomy, requires blood samples from both parents and child for best accuracy). ...Read more

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What is it like to have prader-willi syndrome?

Horrible: Sounds like you're asking for an opinion, so I'll give you mine. I've treated several of these unfortunate patients, and I think it would be horrible to have PWS. ...Read more

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Best treatment for someone who has prader-willi syndrome?

Supportive: Growth hormone, a structured environment, airway pressure for the sleep apnea. Sooner or later, we'll find the hormonal basis of the food cravings and be able to fix it. Good luck. ...Read more

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Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Tips on prevention to prader-willi syndrome?

Tips on prevention to prader-willi syndrome?

No prevention : Unfortunately there are no ways to prevent prader-willi syndrome. This is a genetic syndrome with an abnormality on the 15th chromosome. If there is a concern for future children, genetic consultation will be a must. ...Read more

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What is prader-willi syndrome?

What is prader-willi syndrome?

Genetic anomaly: Kids with prader willi syndrome usually obtain the genetic analy from the paternal gene. It is characterized by problems with muscle tone, even noticeable during pregnancy, also due to this difficulty feeding , poor weight gain, as infants. This changes after age 2 when kids develop over eating that can lead to morbid obesity. Also found are; scoliosis, cognitive problems, delayed puberty, etc. ...Read more

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What is prader willi syndrome?

A genetic disorder: Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone & trouble gaining weight; food craving & weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, & medical problems due to obesity. ...Read more