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Deletion syndrome: case study - Essay Example

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In the paper “Deletion syndrome: case study” the author analyzes deletion syndrome, which results from when a piece of chromosome 22 is erased. The deletion takes place near the center of the chromosome at a specific location designated 22 q 11. 2. The syndrome has several presentations…
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Deletion syndrome: case study
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Deletion syndrome: case study

Download file to see previous pages... There is no known cure for 22q11.2 deletion syndrome. The only possible way of managing the defect is using standard treatments to treat certain individual features. Therefore, identifying each of the associated features is of utmost importance. Then, the features should be managed using the best available treatments. In small children, it is necessary to identify the immune problems as early as possible (Cassidy and Allanson 2011). Children with the syndrome have a certain profile in neuropsychological tests. Usually, they have a below-borderline normal IQ (Harris 2005). Some may be able to attend normal schools, while others are home schooled ar in special classes. In the case of Mr. M, he did not join a normal school. Rather, his parents considered home schooling. Current research demonstrates that speech and language impairments are associated with the syndrome (Toriello and Smith 2013). The children perform poorly on the speech and language evaluations in comparison to their nonverbal IQ scores (Aminoff 2008).Brief historyThe patient I chose for this case study is a thirteen year old boy, who I will call Mr. M. He was born with the appropriate weight and in a good measure of health. However, He had a cleft lip and palate. The defect was later corrected through surgery. His lip and palate were back in shape though the scars that were left on them showed clearly that M had undergone surgery. M looked just like a normal baby. However, as time went by, his feeding habits proved to be very poor. ...Download file to see next pagesRead More
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