The Genetic Disorder : Down Syndrome

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Down syndrome is a variance in chromosome 21 that manifests with cognitive delay, muscle hypotonia, characteristic facies, and short stature. (Glanzman, 2015 & Powell-Hamilton, 2012) The genetic disorder was named after the Physician John Langdon Down, who had originally in 1866 labeled those with the genetic abnormality as “Mongoloids”; Down indicated his choice of term for the children because of their appearance was allegedly similar to those from Mongolia and at the time it was believed that those who were of Mongolian decent were to have halted development. The derogatory name for those with the Chromosome 21 anomaly was changed over a hundred years later in the 1960’s when it was criticized by Asian scientists. The “Mongoloids” term was dropped from the scientific community while “Down’s syndrome” took its place; in the 1970’s Down’s was revised and became Down syndrome in the United States. There are still parts of the world where the condition is still known as Down’s. (Leshin, 2003). The purpose of this paper is to outline the pathology, etiology, medical treatments, physical limitations, and physical therapy interventions for those with Down syndrome. As of yet, the etiology of Down syndrome is idiopathic although there is a definite connection with maternal age. According to Allan M. Glanzman in Chapter 23, Genetic and Developmental Disorders, of Pathology Implications for the Physical Therapist, the overall incidence among live births is about one in 700; with the maternal age less than thirty, the risk of chromosomal abnormality is about one in 2000 births; at thirty-five to thirty-nine years of maternal age the incidence is about one in fifty; and for mothers forty and older the risk has increased to be about one ou... ... middle of paper ... ...the observation, practice, and the specificity of the on screen tasks are able to enable the children to engage the mirror neuron system to be able to mimic or apply the tasks outside the virtual reality (Wuang et al., 2010). Even though chromosome 21 is the second most mapped chromosome, the cause of Down syndrome is still unknown. There is a connection between the maternal age and the increased incidence of the genetic disorder. At the moment there is not a cure for Down syndrome and only the associated diseases are able to be treated to make the life of the individual easier. The primary goal for both physical therapy and medical treatment intervention was to help the affected children develop to their full potential and with the aid of both, many children with Down syndrome are able to improve their lifestyles and do what children enjoy doing the most, have fun.

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