Down Syndrome Descriptive Essay

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Abstract

Down Syndrome is a genetical disorder. Before 1862, children born with all or several symptoms such as lower IQ, stunted growth, tongue larger than usual, low muscle tone, slanted eyes, among others fell in the category of mentally disabled. The syndrome often appears in babies born to older parents especially the mother. Screening fetus from ten weeks can reveal whether the pregnancy would lead to a baby with the syndrome or not. Research shows that the condition is not hereditary. Apart from Washington, Down syndrome occurs in all other states as seen in Appendix A. According to Global Disease Burden, the annual death rate of the world’s population having Down syndrome was 0.5 per 100,000 people as of 2013. Down syndrome patients need close attention because the condition increases the risk other illnesses to the patient. Although Down syndrome is as old as humankind, the 1866 description of John Langdon shed light into the knowledge of the condition. Down syndrome does not have any form of treatment. A baby diagnosed with the condition will have to live with it until death.

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Introduction

Down Syndrome is a genetical disorder. Before 1862, children born with all or several symptoms such as lower IQ, stunted growth, tongue larger than usual, low muscle tone, slanted eyes, among others fell in the category of mentally disabled. John Down was the English doctor who gave a full description of the condition. It earned the name courtesy of the physician (Wright, 2011). Ordinarily, a human being should have 46 chromosomes. However, during sperm or egg development, the twenty-first chromosome does not separate making it have twenty-four. Consequently, during reproduction, the combination results in 47 chromosomes. Karyotype studies revealed that there are three chromosomes at the 21st, hence the name Trisomy 21. The added genetic material causes an overexpression of genes associated with the 21st chromosome (Zbucka-Kretowska et al., 2017).

The syndrome often appears in babies born to older parents especially the mother. In some cultures, parents killed babies who had such symptoms. With time screening of fetus could reveal some signs of Down Syndrome. That gave mothers the will to decide on whether to keep the pregnancy or terminate it. Ethics guide some parents. Whereas a section believes that abortion is wrong, others take it as a way of stopping a problem before it occurs. The patients do not have a normal life expectancy, in fact, it is between 50 and 60 years in developed countries. That implies that countries that do not have advanced health schemes and facilities would notice them die much earlier. A probable reason is that they are vulnerable to other infections that require close monitoring, which might not be affordable in developing countries. The patients go to school but rarely advance their studies in the U.S.; most of them are partially-independent.

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This research project will analyze Down Syndrome by looking at the persons affected, the location of the occurrence, and when the condition broke. It will incorporate statistical analysis of obtained data from several sources as a way of expounding the above issues. The statistical focus will dwell on U.S. states.

Analysis of the Epidemiology

Persons Affected

Screening fetus from ten weeks can reveal whether the pregnancy would lead to a baby with the syndrome or not. However, depending on the type of test, the screening might give a false positive. For instance, using ultrasound alongside other tests results in 5% false positive cases while Cell-free fetal DNA contributes to just 0.3% (Sehnert et al., 2011). Trisomy 21 affects people of all race and ethnicity in the U.S. and all over the world (Zbucka-Kretowska et al., 2017). Its detection is in infancy or sometime after birth by examining the physical traits. There is a higher risk of giving birth to a down syndrome baby if one of the parents has it. Men have a lower chance of fathering such babies because most are unable to sire. The most common way of ending up with babies having the condition is from the mother. The likelihood increases with age.

Conversely, research shows that the condition is not hereditary. It occurs due to random cell division even when the fetus develops. That explains why the maternal age of less than 35 is at an elevated risk of giving birth to the babies. Considering that it is of three types apart from Trisomy 21 there is Mosaicism; it happens due to nondisjunction of the twenty-first chromosome, Translocation; it occurs during cell division where a section of the twenty-first chromosome disjoins and merges with another chromosome. Maternal parents having the gene translocation tend to transfer the condition to babies more frequent than paternal parents. Table 1 shows the prevalence rate of Trisomy 21 in 10,000 births for all the States and the Department of Defense between 2010 and 2014 (National Birth Defects Prevention Network). Appendix A shows a detail of the statistics per State.

Table 1: Summary of Births with Down Syndrome cases

State White, Non-Hispanic Black, Non-Hispanic Hispanic Asian or Pacific, Islander, Non-Hispanic American Indian, Non-Hispanic
Department of Defense 588 103 84 29 12
Total of States 9428 2394 5375 787 206

Table 2 shows the prevalence by mother’s age in the U.S. between 2010 and 2014.

Table 2: Summary of Prevalence by Maternal Age

State Below 35 Over 35 Total
Department of Defense 506 295 801
Total of States 9704 8885 18589
Total of U.S. 10210 9180 19390

The more extended bar of White, Non-Hispanic implies that the White population is higher so is the Hispanic. Therefore, the likelihood of down syndrome occurring also rises. Figure 2 disapproves the premise that the prevalence increases with age. In fact, the percentage is higher in mothers under the age of 35. National Institute of Health gives the contrary of the above. See Table 3 for the comparisons.

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Table 3: Likelihood of Down Syndrome and Maternal Age

Age Likelihood of 1 occurrence in
25 1,300
30 900
35 350
42 55
49 25

Place of Occurrence

Apart from Washington, Down syndrome occurs in all other states as seen in Appendix A. There is a similarity between the population of babies and the mothers, which justifies the reliability of the data. Figure 3 and Figure 4 show the prevalence rate of babies and maternal age in 10,000 from 43 States respectively.

From the two plots, Texas has the highest rate followed by New York while Vermont and Hawaii have the least. Once again, it appears so because of the total number of babies born is higher than the rest of states. Washington had a relatively higher live births value but recorded no Down syndrome from 2010 through 2014 the data in Appendix B (National Birth Defects Prevention Network) resulted in Figure 4.

According to Global Disease Burden, the annual death rate of the world’s population having Down syndrome was 0.5 per 100,000 people as of 2013. That said, the annual mortality rate in Africa was at 1.5. that is three times the world’s value. Asia, America, and Europe registered the lowest value of 0.3 per 100,000 people. Similarly, Africa recorded the highest number of years of healthy life lost. It was 137.9 against America’s 42.7 while Asia and Europe recorded 37.7 and 36.3 per 100,000 people. The good news is that the mortality rate has been decreasing since 1990. Figure 5 below shows a cluster bar that gives an overview of the mortality rate.

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The reasons for the elevated rate in Africa compared to the rest of the world are lack of education and improved healthcare. Down syndrome patients need close attention because the condition increases the risk other illnesses to the patient. Often children born with Trisomy 21 develop congenital heart defects, which threatens their lives more. There is no treatment. Therefore, developed countries can avail the necessary health care attention to prolong the patient’s life. Proper healthcare schemes also require adequate finances while some African countries have their citizens living below poverty, which makes constant medical attention to Down syndrome patients a secondary need. Further, there being special programs for patients who exhibit moderate impairments such as special schools, frequent visit to physicians, among others makes the U.S. and other parts of the world have reduced the risk of mortality.

Time of the Outbreak

Although Down syndrome is as old as humankind, the 1866 description of John Langdon shed light into the knowledge of the condition. Jerome Lejeune gave the world more understanding of the disease in 1959. He discovered that patients with the condition had an added chromosome see Figure 6 (The arrow shows the Trisomy 21) (Wright, 2011). As a condition that appears due to genetical disorders, the exact date, time and season is unknown. Shortly after and the beginning of the 1980s some physicians suggested to parents of babies born with Down syndrome not to undergo surgeries that would correct some atresia conditions. They aimed to eliminate the babies by starving them to death.

A typical example that brought a change of perception about babies born with Down syndrome was the 1982 Indiana case. The Baby Doe was born with the syndrome, which manifested esophageal atresia that required correction through surgery. Efforts to convince the physicians, parents and the State’s supreme court could not save the baby (Wright, 2011; Sayeed, 2005). The challenge informed law experts to persuade Congress to legislate against such behavior in future. It is logical to argue that the first time of detection usually ten weeks or more of pregnancy would be the time of the outbreak of the condition. However, as discussed, the tests are not 100% accurate because there is a chance that they could give false negative or positive. As a result, the surest proof would be between birth and a few years after birth by testing the DNA of the child.

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Conclusion

Down syndrome does not have any form of treatment. A baby diagnosed with the condition will have to live with it until death. What parents should do is to offer all the necessary physical, emotional, and medical support to the child as he or she grows. Where the child will need particular attention, they should allow then undertake the special education. On the other hand, when the child can go to normal schools because the condition is mild, the parents should assist them especially now that the federal law protects such children against exclusion. The mortality rate has significantly decreased thanks to the improved medical facilities and attention to the people with the condition. One fact that turns out is that the condition begins during fertilization or cell division. There is a need for further research to find out why maternal age below 35 has a higher prevalence rate unlike expected rate increase with an increase in age. Moreover, Washington State could act as a reference while conducting further research.

Appendices

Appendix A

State White, Non-Hispanic Black, Non-Hispanic Hispanic Asian or Pacific, Islander, Non-Hispanic American Indian, Non-Hispanic
Alaska 38 <6 0 <6 63
Arizona 181 17 190 16 33
Arkansas 136 36 24 4 0
California 103 22 325 27 0
Colorado 273 31 181 15 4
Delaware 44 17 12 5 0
Florida 640 295 405 54 <5
Georgia 128 119 76 24 1
Hawaii 5 0 2 14 0
Illinois 549 129 352 48 3
Indiana 282 37 27 6 0
Iowa 214 15 20 4 0
Kansas 125 9 46 11 <5
Kentucky 261 28 19 6 1
Louisiana 130 61 27 <5 0
Maine 68 4 2 2 0
Maryland 132 98 69 12 0
Massachusetts 520 70 128 52 0
Michigan 405 104 31 21 0
Minnesota 121 49 29 23 2
Mississippi 72 60 3 1 3
Missouri 348 76 39 10 2
Nebraska 179 5 13 6 1
Nevada 73 17 104 11 2
New Jersey 243 92 230 34 2
New Mexico 45 4 102 1 20
New York 698 262 363 144 2
North Carolina 447 134 150 24 15
North Dakota 42 0 2 3 6
Oklahoma 198 26 76 11 28
Oregon 266 11 110 17 7
Puerto Rico 251
Rhode Island 49 7 17 0 1
South Carolina 195 69 48 7 0
Tennessee 387 104 75 10 2
Texas 857 226 1583 93 4
Utah 307 4 78 18 2
Vermont 31 0 0 1 0
Virginia 318 130 119 31 0
Washington
West Virginia 58 3 1 0 0
Wisconsin 260 23 46 21 2
Department of Defense 588 103 84 29 12
Total of States 9428 2394 5375 787 206
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Appendix B

State Below 35 Over 35 Total
Alaska 37 26 63
Arizona 241 203 444
Arkansas 128 75 203
California 235 272 507
Colorado 254 257 511
Delaware 40 39 79
Florida 731 712 1443
Georgia 174 213 387
Hawaii 13 16 29
Illinois 493 566 1059
Indiana 224 138 362
Iowa 156 109 265
Kansas 117 87 204
Kentucky 194 122 316
Louisiana 143 83 226
Maine 50 29 79
Maryland 171 164 335
Massachusetts 316 507 823
Michigan 332 245 577
Minnesota 128 97 225
Mississippi 82 67 149
Missouri 286 205 491
Nebraska 136 102 238
Nevada 99 83 182
New Jersey 263 332 595
New Mexico 112 67 179
New York 727 768 1495
North Carolina 405 393 798
North Dakota 36 20 56
Oklahoma 206 135 341
Oregon 244 182 426
Puerto Rico 145 105 250
Rhode Island 35 43 78
South Carolina 187 150 337
Tennessee 346 228 574
Texas 1457 1337 2794
Utah 219 198 417
Vermont 18 13 31
Virginia 301 303 604
Washington
West Virginia 44 19 63
Wisconsin 179 175 354
Department of Defense 506 295 801
Total of States 9704 8885 18589

 

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  1. Global Disease Burden. Down syndrome in Africa: Statistics on overall impact and specific effect on demographic groups. Retrieved from http://global-disease-            burden.healthgrove.com/l/79921/Down-Syndrome-in-Africa
  2. National Association for Down Syndrome. Facts about Down syndrome. Retrieved from http://www.nads.org/resources/facts-about-down-syndrome/
  3. National Birth Defects Prevention Network. Birth defects and data directory. Retrieved from https://www.nbdpn.org/docs/bdr21145-sup-0003-suppinfo03.pdf
  4. National Institute of Health. How many people are affected by or at risk for Down syndrome. Retrieved from             https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/risk.aspx
  5. Sayeed, S. (2005). Baby Doe redux? The department of health and human services and the born-alive infants protection act of 2002: A cautionary note on normative neonatal practice. Pediatrics, 116(4). 576-585.
  6. Sehnert, A. J., Rhees, B., Comstock, D., Feo, E., Heilek, G., & Rava, R. (2011). Optimal detection of fetal chromosomal abnormalities by massively parallel sequencing of Cell-Free fetal DNA from maternal blood. Clinical Chemistry, 57(7). 1024-1049.
  7. Wright, D. (2011). Downs: The history of a disability. Oxford: OUP Oxford.
  8. Zbucka-Kretowska, M., Charkiewicz, K., Goscik, J., Wolczynski, S., & Laudanski, P. (2017). Maternal plasma angiogenic and inflammatory factor profiling in foetal Down syndrome.        PLOS ONE, 12(12): e0189762. doi: 10.1371/journal.pone.0189762
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