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Doctor insights on: Prader Willi Syndrome

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Dr. Leslie Benson
82 doctors shared insights

Prader Willi Syndrome (Overview)

Prader-Willi syndrome is a genetic disorder characterized by excessive eating during childhood and extreme obesity. Other problems include speech delay, poor motor coordination and muscle tone, and infertility.


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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 (Overview)

Prader-Willi syndrome is a genetic disorder characterized by excessive eating during childhood and extreme obesity. Other problems include speech delay, poor motor coordination and muscle tone, and infertility.


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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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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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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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Managing Carpal Tunnel Syndrome (Checklist)

Visit your medical provider for accurate diagnosis
Once
Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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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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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Listen, listen, listen
once
Practice stress management and mindfulness
2x day
Do not be afraid to Ask for feedback
3x day
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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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