Question 1

what is prader-willi syndrome?

Accepted Answer

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.

Question 2

what are the tests and methods for determining a prader willi diagnosis?

Accepted Answer

Genetic: Most common is a microdeletion in the p-w area of the chromosome 15 from dad. Sometimes both chromosome 15's come from mother or both genes act as if they came from mom because the gene from dad was changed. Tests: fish test of chromosome 15 in the p-w region or genetic microarray. Methylation is used to show that both genes act as if they came from mom even though one came from dad

Question 3

how do you test for prader-willi?

Accepted Answer

Methylation: The best test is prader-willi methylation studies which have a detection rate of 99%. This is a simple blood test, 1 purple top tube.

Question 4

tips on prevention to prader-willi syndrome?

Accepted Answer

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.

Question 5

best treatment for someone who has prader-willi syndrome?

Accepted Answer

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.

Question 6

is prader willi syndrome hereditary?

Accepted Answer

Yes and no: Prader-willi syndrome involves early low tone with later overeating and obesity since the person is never full. It is genetic, with ~70% of cases having deletion (missing part) of chromosome 15 and the others having altered parental patterning (genomic imprinting). Although always due to a genetic change, it is rarely inherited and has a low recurrence risk for parents of an affected child.

Question 7

what are features of prader willi syndrome ?

Accepted Answer

H3O: Hyperphagia (voracious appetite), hypotonia (low muscle tone), hypopigmentation (light colored), and obesity are classic pictures of prader-willi syndrome.

Question 8

what are the tests for prader-willi syndrome?

Accepted Answer

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).

Question 9

what are the symptoms of prader willi syndrome?

Accepted Answer

Thanks for asking!: Poor muscle tone,  lack of eye coordination, poor sucking, weak cry  during infancy.  Behavioral problems, developmental delay, obesity in childhood.

Question 10

is prader-willi syndrome classified as a nondisjunction disorder?

Accepted Answer

No: PWS is a microdeletion disorder.

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A member asked:

What is prader-willi syndrome?

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What are the tests and methods for determining a prader willi diagnosis?

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How do you test for prader-willi?

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Tips on prevention to prader-willi syndrome?

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Best treatment for someone who has prader-willi syndrome?

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Is prader willi syndrome hereditary?

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What are features of prader willi syndrome ?

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What are the tests for prader-willi syndrome?

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What are the symptoms of prader willi syndrome?

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Is prader-willi syndrome classified as a nondisjunction disorder?

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