FAQ • prader-willi syndrome

FAQ - prader-willi syndrome
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do babies with prader willi syndrome need leg braces and very high powered eye glasses?

My little cousin has many symptoms of Prader Willi Syndrome, but she has gone to get checked for many things and all have came up negative, im not sure what she got tested for but she has
>poor muslce tone
>interested in food
>fair skin/very soft
>repetitive ( she says hi repetitivly )
>learning disability
She is almost 2 and cannot walk or barley talk yet, she also has the facial features of prader willi syndrome, she has poor eyesite and now needs a leg brace. I want to know if the leg brace is needed for babies with prader willi syndrome and same with bad eyesite. If someone can answer, that would be great. C:

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A lot of the things specified are symptoms of this illness, I couldnt find anything about eyesight or leg braces butthis website had a ton of info that might help.......http://www.medicinenet.com/prader-willi_syndrome/article.htm (+ info)

what is actually Prader Willi Syndrome?

i have a son that is seven. i know he is kinda slow . i took him to a doctor and the doctor look at him and said "this kid is m.r." i told him that my son is slow but not m.r. i wanted to cry so bad. he started looking at his neck and his private. he said " he has Prader Willi Syndrome" i guess because he really dont have a neck and his private is inverted and it looks as if he has one testicle because oneis bigger than the other. (he has two) . how can you diagnos someone by looking at their neck and private? he is about 110 pounds. it's sad because he is trying so hard to loose weight. he does all his weight watching. i just feel so bad for him. some kids are mean to him. some kids are down right horrible. am i in denial? how can some one just look at you and determine you have something like that? please help me on this. i am young and so confused.
i have him in baseball, and after school i mostly make him go out side. he is very quit. he does everything i ask of him. he is a loner and lazy. he wants to stay in his room at all timesw tv. he isnt a badkid. he still potties on himself and i have to tell him "why did you pee on yuorself and he will look down like he didn't know he did(he looks very shocked). he will tell me that he is so stupid. he will start saying he is sorry for doing. i have to get on to him about him pooping. istart smelling something and i have to ask him if he just went to poop. i guess he is nt whipping good or what. i dont know why he still does that. its hard to see one of kids go thru hard times. i just want to make everything better.

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my daughter was tested for pader willie I dont think a dr. can tell just by looking at a child it is a sydrom you have to go to a genetics dr. and they look at the dna and cells, ect. I know small feet are a sign, delayed developemnt, cant stop eating, to the point you must put locks on the frig, heres a link a link I found for you Good Luck!!!
http://www.unmcoc.org/manual/pws/index.htm (+ info)

What is actually Prader Willi Syndrome?

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You need another doctor and a more careful diagnosis. Whatever is wrong with your son, you will need help dealing with it. Your son might indeed have Prader Willi syndrome, and if so, you need to insist that he get help NOW. These children often need growth hormone therapy, help with nutritional and respiratory issues, speech therapy, and so on. Trying to just help him lose weight isn't enough, because the bigger issues about his physical and intellectual growth are much more important. Even if it isn't Prader Willi, he sounds as if he needs help with learning issues.

Do you have a social worker? If so, can you ask for help from him/her? If not, can you get to a different doctor and ask for a referral to someone who can evaluate your son?

You can't just sit back and be sad; you have to learn what's going on and fight for your son. (+ info)

i have Public Awareness Presentation about prader willi syndrome??i need ideas how to make it intersting?

► You should have been more elaborate. Not many people will help u start a project here, sorry. (+ info)

If you have a child with Prader-willi syndrome or you have it yourself?

if you dont mind i would like to contact you through email
it is for a biology
and i just need to know how it is a day in your life.
contact me at [email protected]
this is very much appreciated

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My twin brother has PWS. I'd be happy to answer any questions. =) (+ info)

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

I'm looking for a flowchart of testing methods to determine a positive diagnosis for Prader Willi syndrome.

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Prader-Willi Syndrome diagnosis can best be determined by a clinical geneticist and individuals who have a number of the clinical findings should be referred for genetic testing. DNA methylation analysis confirms diagnosis of PWS. FISH and DNA techniques can identify the specific genetic cause and associated recurrence risk. Patients who had negative or inconclusive tests with older techniques should be retested.Some of the clinical findings of Prader-Willi Syndrome include: neonatal and infantile central "floppiness" which improves with age, infantile lethargy, feeding problems and poor weight gain in infancy, excessive or rapid weight gain between 1 and 6 years of age, distinctive facial features - narrow face, almond-shaped eyes, small-appearing mouth with thin upper lip and down-turned corners of mouth, delayed pubertal signs after age 16, short stature, small hands and feet, global developmental delay before age 6 with mild to moderate mental retardation or learning problems in older children, and obsession with food. Characteristic behavior problems of PWS include temper tantrums, violent outbursts, obsessive/compulsive behavior; tendency to be argumentative, oppositional, rigid, manipulative, possessive, and stubborn; perseverating, stealing, lying, and skin picking. (+ info)

What exactly is Prader-Willi syndrome?

Prader-Willi Syndrome (PWS) is a non-inherited genetic disorder that occurs on the 15th chromosome. It happens by missing a piece of the paternal 15 chromosome or from inheriting two maternal 15 chromosomes instead of one maternal and one paternal. It caused low tone, poor sucking and a weak cry in babies. As the child with PWS grows, they will have behavioral, cognitive, and appetite issues as well as almond shaped eyes and short stature. Eventually around age 2-5 they will have food seeking behaviors and will never feel full. They have OCD issues and lower than normal intelligence. It is the number one cause of childhood obesity due to the insatiable appetite and slow metabolism. It also causes respiratory issues and diabetes. It is a very complex disorder and there are so many facets to it, that it would be impossible to go into them all. This website will have more info:
www.pwsausa.org (+ info)

how do you detect prader-willi syndrome?

During infancy the diagnosis of PWS may be suspected if poor muscle tone, feeding problems, small genitalia, or the unique facial features are present. If an infant has these features, testing for PWS should be performed. This testing should also be offered to children and adults who display features commonly seen in PWS (developmental delay, uncontrollable appetite, small genitalia, etc.). There are several different genetic tests that can detect PWS. All of these tests can be performed from a blood sample.

Methylation testing detects 99% of the cases of PWS. Methylation testing can detect the absence of the paternal genes that should be normally active on chromosome 15. Although methylation testing can accurately diagnose PWS, it can not determine if the PWS is caused by a deletion, maternal uniparental disomy, or a mutation that disrupts imprinting. This information is important for genetic counseling. Therefore, additional testing should be performed.

Chromosome analysis can determine if the PWS is the result of a deletion in the q arm of chromosome 15. Chromosome analysis, also called "karyotyping," involves staining the chromosomes and examining them under a microscope. In some cases the deletion of material from chromosome 15 can be easily seen. In other cases, further testing must be performed. FISH (fluorescence in-situ hybridization) is a special technique that detects small deletions that cause PWS.

More specialized DNA testing is required to detect maternal uniparental disomy or a mutation that disrupts imprinting. This DNA testing identifies unique DNA patterns in the mother and father. The unique DNA patterns are then compared with the DNA from the child with PWS.

PWS can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus sampling (CVS). This testing is only recommended if the mother or father is known to have a chromosome rearrangement, or if they already have a child with PWS syndrome. (+ info)

What is Prader-Willi Syndrome?

Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones. (+ info)

what is prader-willi syndrome?

http://www.google.ca/search?q=prader-willi+syndrome&ie=utf-8&oe=utf-8&aq=t&rls=org.mozilla:en-US:official&client=firefox-a (+ info)

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