Topic > The genetic disease: Down syndrome - 1901

Down syndrome is a variance in chromosome 21 which manifests itself with cognitive delay, muscular hypotonia, characteristic facial features and short stature. (Glanzman, 2015 and Powell-Hamilton, 2012) The genetic disorder is named after the physician John Langdon Down, who originally labeled those with the genetic abnormality as “Mongoloids” in 1866; Down pointed to his choice of term for the children because their appearance was supposedly similar to those of Mongolia and it was believed at the time that those of Mongolian descent would have stunted development. The derogatory name for people with the chromosome 21 anomaly was changed more than a hundred years later, in the 1960s, when it was criticized by Asian scientists. The term “Mongoloid” was abandoned by the scientific community and its place was replaced by “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 the condition is still known as Down's. (Leshin, 2003). The purpose of this article is to outline the pathology, etiology, medical treatments, physical limitations, and physical therapy interventions for individuals with Down syndrome. To date, the etiology of Down syndrome is idiopathic, although there is a clear connection with maternal age. According to Allan M. Glanzman in Chapter 23, Genetic and Developmental Disorders, Pathological Implications for the Physiotherapist, the overall incidence among live births is approximately one in 700; with a maternal age of less than thirty years, the risk of chromosomal anomalies is approximately one in 2000 births; between thirty-five and thirty-nine years of maternal age the incidence is approximately one in fifty; and for mothers age forty and older the risk has increased to about one in... middle of paper... observation, practice and specificity of screen tasks can enable children to engage the mirror neuron system to be able to imitate or apply tasks outside of virtual reality (Wuang et al., 2010). Although chromosome 21 is the second most mapped chromosome, the cause of Down syndrome is still unknown. There is a connection between maternal age and increased incidence of genetic disease. There is currently no cure for Down syndrome and only associated diseases can be treated to make the individual's life easier. The primary goal of both physical therapy and medical intervention was to help affected children develop to their full potential, and with the help of both, many children with Down syndrome are able to improve their lifestyle and to do what they love most, have fun.