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Essay / The genetic disorder: Down syndrome - 1901
Down syndrome is a variation of chromosome 21 which manifests itself by cognitive delay, muscular hypotonia, characteristic facial features and short stature. (Glanzman, 2015 and Powell-Hamilton, 2012) This genetic disorder is named after the physician John Langdon Down, who in 1866 initially referred to people with this genetic anomaly as “Mongoloids”; Down indicated that his choice of term for the children due to their appearance would be similar to those from Mongolia and that at the time it was thought that those of Mongolian descent must have arrested development. The derogatory name for people with an abnormality of chromosome 21 was changed more than a hundred years later, in the 1960s, when it was criticized by Asian scientists. The term “Mongoloids” has been abandoned by the scientific community in favor of “Down syndrome”; In the 1970s, Down syndrome was revised and became Down syndrome in the United States. There are still parts of the world where this disease is still known as Down's. (Leshine, 2003). The purpose of this article is to describe the pathology, etiology, medical treatments, physical limitations, and physical therapy interventions for individuals with Down syndrome. For the moment, the etiology of Down syndrome is idiopathic although there is a definite link with the age of the mother. 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 approximately one in 700; when the mother's age is less than thirty years, the risk of chromosomal anomaly is approximately one in 2,000 births; between thirty-five and thirty-nine years of maternal age, the incidence is approximately one in fifty; and for mothers aged forty and over, the risk increased to about one in...... middle of paper ......observation, practice, and specificity of screen-based tasks may allow children to engage the mirror neuron system to be able to imitate or apply tasks outside of 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 link between maternal age and increased incidence of the genetic disease. Currently, there is no cure for Down syndrome and only associated illnesses can be treated to make life easier for the individual. The main goal of physical therapy and medical treatment was to help affected children develop their full potential, and with the help of both, many children with Down syndrome are able to improve their lifestyle and do this what children like to do most: fun.