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What´S Prader Willi Syndrome? Essay

844 words - 4 pages

Prader-Willi Syndrome, named after the doctors who described it in 1956, is a rare genetic mutation involving missing genes on chromosome 15. The syndrome has two distinct stages and affects the growth and development in patients diagnosed with the disorder. The most major symptom of this disorder is the irregular appetite causing severe weight gain. Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity and affects a patient for their entire life span. The syndrome occurs in all races and equally between both males and females however it is not inherited in 99% of cases.

Prader-Willi Syndrome is rare with only 1 in 20,000 people born with the mutation. ...view middle of the document...

The development milestones of these babies, such as smiling, sitting, walking and talking, are also delayed. As the child grows older, their strength and muscle tone improve. The second recognised stage of Prader-Willi Syndrome commonly begins at age two however it can occur later, sometimes as late as eight years of age. In this stage a patient’s obsession with food will begin to develop. Patients suffering from Prader-Willi Syndrome can not control their food intake and are likely to over eat. Those with this syndrome are also likely to have a slow metabolism which in 95% of cases can lead to obesity. Cognitive and developmental challenges are also a symptom of Prader-Willi Syndrome. Many of those diagnosed with the disorder suffer from learning disabilities regardless of their IQ, which usually ranges from low normal to moderate intellectual disability. Short stature, usually due to growth hormone deficiency and small hands and feet are also symptoms of Prader-Willi Syndrome. Other possible symptoms of this genetic disorder include scoliosis, excessive sleepiness, obsessive-compulsive behaviours (skin picking in particular), eye sight difficulties (short sighted etc.), speech defects, delayed puberty and a difficulty in controlling emotions which often leads to temper tantrums. Prader-Willi Syndrome is usually detected at birth or in early childhood and is diagnosed by physical examinations and blood tests to check for inactivity regarding chromosome 15.

There is currently no cure for Prader-Willi Syndrome however there are treatments and therapies to...

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