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).
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- History: Down Syndrome was discovered in 1866 by a British physician named John Langdon Down, which is where the name Down Syndrome came from. This genetic disorder was first referred to as Mongolism. The name Down Syndrome did not start being used until the early 1970s. In 1959, a French Pediatrician/Geneticist Professor Jerome Lejeune had discovered that people with this disorder have one extra chromosome. In the 1960s when children with Down Syndrome were born, they were put into institutions right after birth.... [tags: Down syndrome, Chromosome]
1219 words (3.5 pages)
- History: Down Syndrome was discovered in 1866 by a British physician named John Langdon Down, which is where the name Down Syndrome came from. This genetic disorder was first referred to as Mongolism. The name Down Syndrome did not start being used until the early 1970s. In 1959, a French Pediatrician/Geneticist Professor Jerome Lejeune had discovered that people with this disorder have one extra chromosome. In the 1960s when children with Down Syndrome were born, they were put into institutions right after birth.... [tags: Down syndrome, Chromosomal translocation]
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- Understanding the Disease Down syndrome When an error occurs at chromosome 21 within in the genetic make of a human being, the person obtains distinct features such as slanted eyes, deeply creased hands, and a protruding tongue. At first glance this person may appear to be affected with some type of deformation, but they are often one out of the 4,000 people that are diagnosed with the disease Down syndrome. Down syndrome or DS is a chromosomal abnormality that frequently affects humans. Because the disease is genetic one can assume that it has been affecting the human body for years.... [tags: Down Syndrome, informative]
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