Paper on Down Syndrome

Condition to be studied

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All the cells in the body are not alike. Some of the most common types of cells within the body include bone cells (osteocytes), nerve cells, epithelial cells and the muscle cells. Each of this kind of cell has a specialized function like the nerve cell is elongated with many branches at each end designed to propagate nerve signals to various parts of the body. Despite apparent differences, they all have a nucleus where the genetic materials. The genes are responsible for all the inherited characteristics of organisms, and they are grouped in the chromosomal structures. Each nucleus possesses 23 pairs of chromosomes, and half of this value is obtained from one parent alone. It is at this point that we understand that Down syndrome exists when an individual has an extra copy of the 21st chromosome (Bowers, 2008).

Definition of the disease

Therefore, Down syndrome (DNS) is also known as trisomy 21 is a genetic condition that arises because of an extra chromosome, particularly number 21. The extra chromosome exists either partially or a whole one. An individual with this genetic disorder is usually characterized by growth defects especially delays in growth patterns, facial characteristics and a mild and sometimes moderate intellectual disability. According to researchers, such an individual develops an Intelligence Quotient of 50 which is similar to that of an 8-year-old child. The disease does not usually transmit from parents because the parents of such a child are generally healthy. The occurrence of the extra 21st chromosome is usually random and so is the disease. No known environmental factor or behavior changes or exacerbates the risks. Regardless, it is still identifiable during pregnancy notably through the prenatal screening coupled with diagnostic testing. The test can be confirmed further through observation and appropriate genetic tests.

Throughout the human history, individuals with the Down syndrome have eluded the medical spotlight because it was discovered in the late 19th century. It was at this point that John Langdon Down published a research article in which he had accurately described persons with the genetic disorder (Bowers, 2008). He was the pioneer in this domain because there were others who had recognized similar characteristics but it was Down who had correctly described the condition. Due to advancements in technology, research into the disease has been accomplished where the extra chromosome was discovered. Also, the gene copy of the 21st chromosome was associated with the characteristics of the Down syndrome.

Risks and Causes of the disease

The extra chromosome in the gene pool has been known to be responsible for the physical and developmental deficiencies. There are three known types of this genetic disorder even though they all have similar effects (Cohen, Nadel & Madnick, 2002). Trisomy 21 is the most prevalent type of Down syndrome and is responsible for 94% of all conditions of this disorder. This condition refers to the extra chromosome in the gene pool. Translocation is the second type of Down syndrome where the 21st chromosome attaches itself to another chromosome in the gene pool. An individual depicts 46 chromosomes but because two chromosomes are joined, the number is similar to that in the trisomy. This version of Down syndrome is responsible for 4% of all the cases. Mosaicism is not common and known to contain 2% of the cases. Not all cells have an extra chromosome and as a result, they depict fewer delays when compared to the other types of the disease.

Down syndrome has been considered to be the most common reason behind the intellectual disabilities and physical development delays. Almost 400,000 people in the US live with this genetic disorder. Statistics assert that the risk of developing this condition is one in every 691 babies born which is the same as 6,000 cases each year. Researchers are aware of only some of the risk factors associated with this disease. For example, there is an excellent chance that parents with the disorder have higher chances of giving birth to a child with the condition than those with not. This does not, however, eliminate the chance that a child with an extra chromosome can be born of parents without Down syndrome.

The chance that a child is born with an extra chromosome 21 is bound to increase as the womans age advances. Research studies assert that older women have greater chances of giving birth to children with the genetic disorder as opposed to younger women. In other words, the risk of giving birth to affected children increases as the woman gets older as opposed to when they were younger. There is, however, fewer women in the bracket of giving birth and are more than 35 years old. The women in this age bracket make up 15% of all the total births in the US every year. Also, 40% of all the births of babies with Down syndrome comes from this age bracket. At the age 25, the risk is 1 in 1,300 and as age advances, the risk also increases like, at the age of 49 years, it is at 1 in 25.

Symptoms of the condition

The characteristics of this genetic disease are clear and distinct from the other conditions. The state can be determined when the woman is still pregnant through screening. The pregnant mother would not experience any symptoms from the child with Down syndrome. The most common features of this disease usually depicted by the babies include flat facial features, a small head as well as ears, a short neck, and a distended tongue, slanting eyes and a poor muscle tone. A child with the extra chromosome is sometimes born with an average birth weight but still depict slower growth rate than the other healthy kids (Bowers, 2008). The child will depict not only a slow growth but also an intellectual ability that is lower than the usual. The child will also depict poor muscle tone because of the poor growth. These are all characteristics that have been associated with the extra gene.

Due to the disability that comes with the Down syndrome, individuals that have developed the disease tend to depict symptoms of the mental impairment. The mental incapability is usually moderate and sometimes mild. The child also shows delays in social and psychological development and as a result, the child might depict poor social capabilities. The most common social characteristics of this disease include impulsive behavior, poor judgment, a short concentration span and a very slow learning speed (Nelson-Goff et al., 2016). The child is otherwise a poor performer in class when compared to the other students in the class. The fact that the disease ensures limitations concerning their intelligence quotient, the student has to be cared for rather than be discriminated against in school. Once it is known that the child is sick and is responsible for the poor performance, he or she is bound to experience stigma.

Diagnosis

The disease can be detected quickly during prenatal screening, and this paper will provide a description of the process. Regardless, the disease can still be detected after the birth of a child. During the pregnancy, there are two primary tests that a mother can be subjected to for easy detection of the genetic anomaly. Firstly, the prenatal screen test can be useful in telling the chances a child has of developing the disease. However, its weakness is that it cannot ascertain the presence of the genetic disorder. After performing the screen test, the diagnostic test would serve to confirm the existence of the disease. A prenatal diagnostic test is essential to provide the parents with a higher degree of certainty than the screening test. However, the fetus is exposed to more risks when the diagnostic test is used as opposed to when the screening test is utilized. It is therefore recommended that a pregnant mother be offered the Down syndrome screening test.

When the screening is opted for, there are several options that are available for the woman. Firstly, the woman can have an ultrasound test coupled with a blood test during the first trimester of the pregnancy. This approach is the most accepted one in medicine. The blood test allows the healthcare service provider to detect markers like proteins in the mother's blood that point out the risk of the child having Down syndrome. The ultrasound on the other hand can be used to show the childs neck which can serve as an indicator of the disease. The second approach for testing for Down syndrome is a blood test when the mother is in the second trimester. Just like the initial blood test, this one also identifies markers within the mother's blood to measure the risk involved. The final approach is to provide a combined test where the blood test is coupled with the ultrasound for both the first and second trimester. It is, however, important to note that the tests become unreliable when the mother is pregnant with twins or triplets because the markers within the blood will be harder to find.

After the screening test has asserted the likelihood of the child having Down syndrome, diagnostic tests are ordered to confirm it. These diagnostic tests carry the risk of causing miscarriage, and it is only recently that all the women were allowed to perform this option. Only those above 35 years and other at-risk populations were allowed to take these tests. They involve the extraction of samples of genetic materials through methods like amniocentesis and chronic villus sampling (CVS) and the chromosomes analyzed rigorously for the extra chromosome 21. There are two tests involved in prenatal diagnostic testing and they include chromosomal testing of maternal blood and testing and in vitro fertilization. After birth, the diagnosis is possible through the analysis of the clinical features of the disease such as poor muscle tone. Because the features at times might not be visible and that they are common in the general population, the doctor might opt for testing the childs blood to determine the chromosomal number.

Statistics

In babies, the occurrence of this order is at the rate of 6,000 babies being born every year with Down syndrome. This is the same as 1 in every 700 babies born. The number of children born with this genetic condition has increased by 30% between 1979 and 2003 (Bowers, 2008). As stated before, the risk of carrying children with this condition rises with age advancements. Therefore, older mothers are at a higher danger of giving birth to children with Down syndrome as opposed to younger women. 1 out of every 1,000 children (0-19 years) had the genetic disorder in the United States in 2002 alone. This was estimated to equal 83,000 children with the Down syndrome. Researchers stated that 1 of every 1,200 people who included children, teenagers and adults had the syndrome in 2008 in the USA.

The above statistics talk about the prevalence of the disease which implies to measure the frequency in which a condition occurs. In this paragraph, this article will discuss the statistics for the rate of survival for this genetic condition. An individual with Down syndrome has a life expectancy of 10 years as of 2007. It has increased significantly since 1960 considering that people with the disease have lived for about 47 years on average. The difference between the life expectancy and the life an individual lives on average is impacted by several factors. For instance, those children born with very low birth weight which is about 3.3 pounds have been found to be 24 times likely to die within the first 28 days (Bowers, 2008). Also, African American children with Down syndrome are less likely to survive the first year as opposed to the white infants. Those with the congenital heart defect (CHD) have been found to die in the first year alone.

Treatment and management

Firstly, parents have to understand that ther...