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What Are Symptoms Of Prader Willi Syndrome
Newborn period: (or sooner - some babies can have abnormal findings detected on prenatal ultrasounds.) however, classically, the diagnosis is made in the newborn period due to low muscle tone, poor feeding and poor weight gain. The overeating characteristic of prader-willi begins in the toddler or preschool years. ...Read more
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
During when do the first symptoms of prader-willi syndrome show up. And how does the condition progress?
Newborns with P-W: May be small for gestational age ; have difficulty feeding because of low muscle tone, moreso in neck muscles. Infants may present with " failure to thrive", short length, low muscle tone, almond-shaped eyes ; small hands ; feet. Males may have a small penis ; "hidden" tested. Hyperphagia (abnormally increased appetite) usually begins between 18 mos.-5 yrs. See http://www.Pwsausa.Org/syndrome/. ...Read more
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
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
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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