The Prevalence And The Epidemiology Of Down Syndrome Essay

The Prevalence And The Epidemiology Of Down Syndrome Essay

Length: 1140 words (3.3 double-spaced pages)

Rating: Better Essays

Open Document

Essay Preview

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...


... middle of paper ...


...) 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).

Need Writing Help?

Get feedback on grammar, clarity, concision and logic instantly.

Check your paper »

Essay on Genetic Disorder : Down Syndrome

- 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]

Better Essays
1219 words (3.5 pages)

Essay about Genetic Disorder : Down Syndrome

- 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]

Better Essays
709 words (2 pages)

History of Down's Syndrome Essay

- Down’s Syndrome is named after John Langdon Down, a British doctor who first studied and described the mental disorder. He discovered the disorder in Surrey, England while working at an asylum for children with mental retardation. He called people with this disorder Mongoloids because of the physical similarities of citizens from Mongolia compared to those affected by Down’s Syndrome. Later, the term “Mongoloid” was dropped and named after John Down when Jerome Lejeune, a French geneticist who tested children with these similar physical characteristics of Mongolians, found that 97% of those tested had an extra chromosome-21, with a total of 47 chromosomes....   [tags: Down's Syndrome]

Better Essays
1159 words (3.3 pages)

Essay on Down Syndrome : A Chromosomal Disorder

- Down syndrome is a chromosomal disorder that occurs when a baby is born with an extra chromosome in each of their cells. It is the most common of the chromosomal disorders. One in every 691 babies is born with DS (Down syndrome) and there are approximately over 400,000 people living with DS in the United States today. Although it is not genetic, it has been proven that mothers older than thirty-five are more likely to have a baby with Down syndrome. Individuals with Down syndrome have varied cognitive delays, meaning that they learn and develop slower than the average person, but they are still able to live normal lives....   [tags: Down syndrome, Chromosomal translocation]

Better Essays
1211 words (3.5 pages)

Essay on Different Types Of Down Syndrome

- Down syndrome was discovered in the 1800’s by a man named John Langton Down. Down syndrome1 is a condition that occurs in the chromosomes. The syndrome affects the intellectual ability of the person effected, their facial appearance and causes hypotonia2. Children born with this usually experience different types of birth defects. These birth defects can include heart defects and intestine blockage. People with Down syndrome are also at a high risk of developing other medical conditions. Some medical conditions include gastro esophageal reflux3, celiac disease4, hypothyroidism5, and leukemia6....   [tags: Down syndrome, Chromosome, Cancer]

Better Essays
1323 words (3.8 pages)

The Genetic Disorder : Down Syndrome Essay

- Down syndrome is a variance in chromosome 21 that manifests with cognitive delay, muscle hypotonia, characteristic facies, and short stature. (Glanzman, 2015 & Powell-Hamilton, 2012) The genetic disorder was named after the Physician John Langdon Down, who had originally in 1866 labeled those with the genetic abnormality as “Mongoloids”; Down indicated his choice of term for the children because of their appearance was allegedly similar to those from Mongolia and at the time it was believed that those who were of Mongolian decent were to have halted development....   [tags: Down syndrome, Chromosome]

Better Essays
1901 words (5.4 pages)

The Problem Of Down Syndrome Essay

- Down Syndrome Although many theories have been developed, it is not known what actually causes Down syndrome. Some professionals believe that hormonal abnormalities, X-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome. It has been known for some time that the risk of having a child with Down syndrome increases with advancing age of the mother; i.e., the older the mother, the greater the possibility that she may have a child with Down syndrome....   [tags: Down syndrome, Chromosomal translocation]

Better Essays
1260 words (3.6 pages)

Essay on Short Note On Down Syndrome

- Sintia Echeverria 2248361 Down Syndrome Down Syndrome is a familiar term for my family and myself since at time of birth my youngest daughter, Valentina, was diagnosed with such condition. Down Syndrome is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities. Each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21....   [tags: Down syndrome, Chromosomal translocation]

Better Essays
722 words (2.1 pages)

Understanding Down Syndrome Essay

- 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]

Better Essays
1878 words (5.4 pages)

Alzheimer's Disease and Down's Syndrome Essay

- Alzheimer and Down's Syndrome Down?s Syndrome, Trisomy 21, or Mongolism is one of the most common causes of mental retardation. The majority of Down?s Syndrome patients have a moderate retardation although it can range from mild to severe. Trisomy 21 occurs in about 1 in 800 live births. This incidence increases markedly as the age of the mother increases over 35. The prevalence in children born to young mothers is 1 in 1000, while it increases to almost 1 in 40 in children born to mothers over 40....   [tags: Down's Syndrome Trisomy 21 Mongolism]

Better Essays
1439 words (4.1 pages)