Down Syndrome

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Down syndrome has always been defined as a genetic condition. It is also known as Trisomy 21, and it is the most common genetic cause of intellectual disability. Nelson and Gibbs (2004) said “Trisomy results from sporadic nondisjunction of chromosome 21 leading to three copies of the smallest human chromosome”. Trisomy 21 is the cause of about ninety-five percent of observed Down syndrome. Most of the nondisjunction comes from the maternal gamete while a very small amount of the nondisjunction comes from the paternal gamete. Along with Trisomy 21, there is also translocation. Cross, Gensburg, and Olsen (2003) said that “Approximately 5% of cases are due to translocation resulting in the presence of three copies of the q arm of chromosome 21”. …show more content…

“In addition to the above physical differences, children with DS have a higher incidence of medical problems than children who are developing typically” (Appl, 1998). More than half of the people that have Down syndrome suffer from hearing and vision problems. Strabismus, cataracts, keratoconus, and glaucoma are all common vision issues for those who have Down syndrome. Hearing problems are also an issue for most people who have Down syndrome. Ear infections are very common, which can cause hearing loss and this could affect language and social development. Congenital heart disease also causes problems for those who have Down syndrome. Obesity, Fitness &Wellness Week (2004) said that congenital heart disease is a huge issue for those with Down syndrome. Death early on in life for Down syndrome patients is usually caused by congenital heart disease. Vyas (1994) wrote, “Early mortality is high, mainly due to congenital heart defects”. Atrioventricular septal defects and ventricular septal defects are also common for those who have heart disease. Along with congenital heart disease, and vision and hearing problems, there are also issues with the gastrointestinal system. Constipation is the main issue and occurs in half of the people who have Down syndrome. Constipation can cause severe behavioral changes. One cause of constipation could be due to Hirschsprung’s disease. Muscles not moving properly in the bowels, which causes blockages in the large intestine, cause Hirschsprung’s disease. These blockages can lead to constipation. Hirschsprung’s disease is a congenital defect as well, which means it has been an issue since birth. Only 2-15% of those who have Down syndrome suffer from Hirschsprung’s disease

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