Topic > The prevalence and epidemiology of Down syndrome

The purpose of this article is to understand the importance of Down syndrome, identify characteristics, identify at-risk populations, testing methods, prevalence and epidemiology of Down syndrome and to discuss the abortion debate which is closely related to this condition. This topic interests me because I work with this population daily as an occupational therapy assistant. Down syndrome, also known as trisomy 21, is defined as a chromosomal disorder associated with intellectual disability. All affected individuals have cognitive delays, but the intellectual disability is usually mild to moderate and in some cases severe (Wiseman, Alford, Tybulewicz & Fisher, 2009). Down syndrome is by far the most common and well-known chromosomal disorder in humans and the most common cause of intellectual disability. It is caused by an extra copy of chromosome 21, which causes multiple systemic complications as part of the syndrome (Wiseman, Alford, Tybulewicz & Fisher, 2009). Individuals with Down syndrome can have a variety of birth defects. Approximately half of all affected children are born with a heart defect called tetralogy of Fallot (Wiseman, Alford, Tybulewicz & Fisher, 2009). Some signs and symptoms associated with Down syndrome include: flat back of the head, flattened facial appearance, flat nose bridge, slanted eyes, small nose and mouth, protruding tongue, small ears, single transverse palmar crease on the hands, short fifth toe , large space between the first and second toes, shortened extremities, joint hyperextensibility and hyperflexibility, neuromuscular hypotonia (low muscle tone), dry skin, premature aging, low IQ (50 on average) and congenital heart defects (Wiseman, Alford ... in the center of the article...) occurs when cells are taken from the placenta and used to analyze fetal chromosomes (Ram & Chinen, 2011). Cordocentesis occurs when fetal blood is drawn from a vein in the umbilical cord and examined for chromosomal defects (Ram & Chinen, 2011). After birth, the initial diagnosis of Down syndrome is often based on the baby's appearance. There is no cure for Down syndrome. People with Down syndrome are offered early intervention and other therapeutic services to help them with their development. Services include early intervention, occupational therapy (for motor delays, feeding, dressing, and grooming difficulties), physical therapy (for general motor skills, posture, coordination, and muscle tone problems), and speech therapy (for problems with communication, articulation, and comprehension difficulties) (Gardiner, Herault, Lott, Antonarakis, Reeves & Dierssen, 2010).