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Prader willi syndrome - Essay Example

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Prader-Willi Syndrome Christa Haines 5/21/2011 Prader-Willi Syndrome Introduction Prader Willi syndrome is a genetic condition which occurs due to the chromosomal aberration of deletion on the long arm of chromosome 15. The characteristic feature of this aberration is that in all the cases it occurs on the parental chromosome…
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Download file to see previous pages However it is believed that the disease occurs in the children whose family shows history of chromosomal aberrations (Kumar et al 2005). Signs and Symptoms The signs and symptoms of Prader Willi syndrome change over time as it is seen that toddlers and adolescents behave differently when suffering from it. The infants suffering from the syndrome have a poor muscle tone with poor reflexes such as the sucking reflex. They also suffer from lethargy and usually have a retarded growth. As these children grow up they show different signs and symptoms. The toddlers show delayed development of the body lacking language and walking skills. The toddlers also show behavioral problems such as high temper and rudeness. As the child further grows up he faces from other problems. The primary problem that these children face is obesity which is caused by the increasing urge to eat. The behavioral problems with the children have worsened by this time and they tend to be more inflexible. These children also face learning disabilities because of which they are not competitive enough. They also show loss of sexual functions which is because of the loss of hormones in these children (PubMed Health 2009; NYU Languone Medical Center). Diagnosis The diagnosis of children with Prader Willi would be done on the basis of the symptoms of the disease. Hypotonia and almond shaped eyes are some of the symptoms which can lead to the diagnosis of the disorder. In some male infants it is also seen that they have an undescended testis which is a characteristic feature of the Prader Willi syndrome. The laboratory tests can further help to confirm the onset of the syndrome in a child. The tests would confirm the level of obesity in the child. Abnormal glucose and insulin tests are used to confirm the level of obesity. The level of hormones is also checked in the child to confirm that he is suffering from the syndrome. Children with Prader Willi syndrome show decreased functionality of the sexual hormones (Mayo Clinic 2011; Pub Med Health 2009). Treatment of the Prader Willi Syndrome Many researches are being carried out to find out the viability of the treatment options offered to treat the syndrome. It has been found that these treatment options help in improving the conditions of the children suffering from the syndrome. Children suffering from the syndrome usually suffer because of their low caloric diet and thus their diet should be maintained such that their body can grow with ease. Hormonal treatment is considered to be one of the most important in treating the Prader Willi syndrome. Research has shown that growth hormone is very effective in treating children with the Prader Willi syndrome. The treatment of the syndrome by growth hormone in United States was approved in the year of 2000 and ever since the treatment option is considered by many of the physicians. Growth hormone helps to decrease the bodily fat and increase the metabolic rate of the body. Hence in other words the hormone helps to decrease the level of obesity in the children. However on the other hand research has also shown that in some cases growth hormone may worsen the condition of these children. Sleep Apnea or difficulty in breathing while sleeping can be triggered because of growth hormone therapy. It is because of these side effects that in some cases it is recommended that a growth hormone therapy is not given to the child suffering from th ...Download file to see next pagesRead More
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