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Praller Po

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In the hypothalamus of people with PWS, nerve cells that produce oxytocin , a hormone thought to contribute to satiety, have been found to be abnormal.

People with PWS have high ghrelin levels, which are thought to directly contribute to the increased appetite, hyperphagia, and obesity seen in this syndrome.

The main mental health difficulties experienced by people with PWS include compulsive behaviour usually manifested in skin picking and anxiety.

Several aspects of PWS support the concept of a growth hormone deficiency. Specifically, individuals with PWS have short stature, are obese with abnormal body composition, have reduced fat-free mass, have reduced lean body mass and total energy expenditure, and have decreased bone density.

PWS is characterized by hypogonadism. This is manifested as undescended testes in males and benign premature adrenarche in females.

Testes may descend with time or can be managed with surgery or testosterone replacement. Adrenarche may be treated with hormone replacement therapy.

PWS is commonly associated with development of strabismus. PWS is related to an epigenetic phenomenon known as imprinting.

Normally, a fetus inherits an imprinted maternal copy of PW genes and a functional paternal copy of PW genes. Due to imprinting, the maternally inherited copies of these genes are virtually silent, and the fetus therefore relies on the expression of the paternal copies of the genes.

The PW genes are the SNRPN and NDN necdin genes, along with clusters of snoRNAs : SNORD64 , SNORD, SNORD and two copies of SNORD, 29 copies of SNORD HBII and 48 copies of SNORD HBII These genes are located on chromosome 15 located in the region 15q Other, less common mechanisms include uniparental disomy , sporadic mutations , chromosome translocations , and gene deletions.

Region 15q is implicated in both PWS and Angelman syndrome AS. While PWS results from the loss of PW genes within this region on the paternal chromosome, loss of a different gene UBE3A within the same region on the maternal chromosome causes AS.

The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder.

Prenatal testing is possible for any of the known genetic mechanisms. A microdeletion in one family of the snoRNA HBII has excluded it from playing a major role in the disease.

It is traditionally characterized by hypotonia, short stature, hyperphagia, obesity, behavioral issues specifically obsessive—compulsive disorder -like behaviors , small hands and feet, hypogonadism, and mild intellectual disability.

Like autism, PWS is a spectrum disorder and symptoms can range from mild to severe and may change throughout the person's lifetime.

Various organ systems are affected. Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing; testing is recommended for newborns with pronounced hypotonia.

Early diagnosis of PWS allows for early intervention and the early prescription of growth hormone. Daily recombinant growth hormone GH injections are indicated for children with PWS.

GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain.

Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.

PWS is often misdiagnosed as other syndromes due to many in the medical community's unfamiliarity with it.

PWS has no cure; several treatments are available to lessen the condition's symptoms. During infancy, subjects should undergo therapies to improve muscle strength.

Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning environment and extra help.

The largest problem associated with the syndrome is severe obesity. Access to food must be strictly supervised and limited, usually by installing locks on all food-storage places including refrigerators.

Prescription of daily recombinant GH injections are indicated for children with PWS. Because of severe obesity, obstructive sleep apnea is a common sequela , and a positive airway pressure machine is often needed.

A person who has been diagnosed with PWS may have to undergo surgical procedures. One surgery that has proven to be unsuccessful for treating the obesity is gastric bypass.

Behavior and psychiatric problems should be detected early for the best results.

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Praller Po
Praller Po

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