The Prevalence And The Epidemiology Of Down Syndrome

The purpose of this paper is to understand the importance of Down syndrome, identify the characteristics, identify the populations at risk, testing methods, the prevalence and the epidemiology of down syndrome and to discuss the abortion debate that is closely related to this condition. This topic is of interest to me because I work with this population on a daily basis as an occupational therapy assistant.
Down syndrome, also known as trisomy 21, is defined as a chromosomal disorder that is associated with intellectual disability. All affected individuals experience 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 best 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 may have a variety of birth defects. About 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 nasal bridge, slanted eyes, small nose and mouth, protruding tongue, small ears, single transverse palmar crease on the hands, short fifth finger, wide 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...

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...) is when cells are taken from the placenta and used to analyze the fetal chromosomes (Ram & Chinen, 2011). Cordocentesis is when fetal blood is taken 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. Early intervention and other therapeutic services are offered to individuals with Down syndrome to help with their development. Services include early intervention, occupational therapy (for fine motor delays, feeding, dressing, and grooming difficulties), physical therapy (for gross motor skills, posture, coordination, and muscle tone issues), and speech therapy (for communication issues, articulation, and comprehension difficulties) (Gardiner, Herault, Lott, Antonarakis, Reeves & Dierssen, 2010).