The epidemiology of Down Syndrome Essay

  1. Scenario of Family with Down Syndrome

My name is Joanne Johnson, and my 25 twelvemonth old boy has Down syndrome. When he was born the physician suspected Down syndrome because of his distinguishable physical features that suggested so, and with a tissue sample, the physician confirmed that he had Down syndrome. At birth he was mean sized, but as clip wore on his equals outgrew him, and he appeared to be much smaller and different physically. Due to low musculus tone, he experienced many digestive issues, and raising him proved to be a challenge from the really start. As he grew older I explained to him that his physical visual aspect didn’t define him, and that it made him particular, but as he grew older I learned I could no longer protect him from the rough judgement of others. In simple school his equals began to badger his level face, and little wide olfactory organ and they excluded him from friend groups. Because of his hapless musculus tone, he was ne’er the star jock in squad athleticss like association football or hoops, and shortly larning became an apparent challenge. He required particular attending in order to hold on constructs in school, but at his ain gait he was able to larn the chief constructs merely like the other childs. As he grew his passion became acting. He is now 25 old ages old and participates in many dramas. Despite his success in moving he still is capable to much unfavorable judgment and judgement on a day-to-day footing. Finding a occupation is hard, but during his trim clip he works at the local convenience shop at the check-out procedure counter and he volunteers at events with other childs with Down syndrome to allow them cognize that they aren’t entirely. He proved to be a approval in my life, and he brings me much joy. I couldn’t be more proud of him.

  1. Background Information

John Langdon Down, an English doctor and physician was the first to place the syndrome every bit good as publish an accurate description of a individual with Down syndrome in 1866. This earned Down the acknowledgment as the “father” of the syndrome. Although others had antecedently recognized the features, Down described the conditions clearly. In 1959, the Gallic doctor Jerome Lejeune identified Down syndrome as a chromosomal status. Alternatively of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of persons with Down syndrome. It was subsequently determined that an excess partial or whole transcript of chromosome 21 consequences in the features associated with Down syndrome. [ 1 ] In the twelvemonth 2000, an international squad of scientists successfully identified and catalogued each of the about 329 cistrons on chromosome 21. [ 2 ] This achievement opened the door to great progresss in Down syndrome research.

There have been many celebrated people with Down Syndrome, including Stephanie Ginnsz ( The first histrion with Down syndrome to play a prima portion of the gesture image, Duo ) , Lauren Potter ( An American actress, who is known for her function as Becky Jackson on the telecasting show Glee ) , Dr. Karen Gaffney ( “The foremost populating individual with Down syndrome to have a Doctor of Humane Letters grade for her long-standing human-centered work in raising consciousness about the capablenesss of people who have Down syndrome through her functions as an complete athleticss figure, public talker, and advocate” ) , Chris Burke ( “An American histrion, common people vocalist, and motivational talker [ , besides ] known for his character Charles “ Corky ” Thacher on the telecasting seriesLife Goes On” , and many more. [ 3 ] While Down syndrome may burthen one with physical restrictions and obstructions, it certainly does non wholly suppress one’s ability to prosecute passions and ends.

Physical manifestation, besides known as the outward symptoms may include distinguishable facial characteristics such a level face, a little wide olfactory organ, abnormally molded ears, a big lingua and upward slanting eyes with little creases of tegument. Other physical characteristics may include decreased or hapless musculus tone, little caput, ears, oral cavity, broad short custodies and short fingers, and a short cervix. [ 4 ]

Harmonizing to the Centers for Disease Control ( CDC ) , the 2011 estimated prevalence of Down Syndrome increased to 1/691 births. [ This is a big addition from the 1/1087 in the 1990’s ] . [ 5 ] Male prevalence is ( 10.8 ) , and higher in comparing to Female striplings. [ 6 ] “Prevalence of DS by age group was the highest in 0-3 twelvemonth olds at 11.1, worsening to 10.3 among 4-7 twelvemonth olds, 9.8 among 8-11 twelvemonth olds, 8.3 among 12-15 twelvemonth olds, and 6.0 among 16-19 twelvemonth olds” . An increased hazard for Down syndrome may be seen in relationship to a mother’s age. 80 % of the Down Syndrome instances that occur are in female parents under 35 in the United States, nevertheless this is correlativity may merely be because younger adult females have more kids than older adult females. By and large, the hazard of holding a kid with Down Syndrome is greatly increased with a mother’s age, peculiarly in ages 40 and over. When a female parent conceives the first kid with translocation Down Syndrome, holding another kid with Down Syndrome is greatly increased. [ 7 ]

Chart: Down Syndrome at Birth per 10,000 Live Births, 1979--2003. 1979-1983: 9.5; 1984-1988: 10.3; 1989-1993: 10.8; 1994-1998: 11.0; 1999-2003: 11.8.

[ 8 ]

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  1. Scientific Information

Down syndrome is a developmental upset caused by an excess transcript of chromosome 21, hence, Down syndrome is typically caused by nondisjunction. Nondisjunction is the failure of one or more braces of homologous chromosomes to divide during the procedure of miosis [ egg ( or sperm ) formation ] . When the egg joins a normal sperm to organize an embryo, three chromosomes are made alternatively of the usual two. This excess chromosome is so copied over and over once more and as a consequence, every cell in the babies’ organic structure will hold the excess chromosome transcript. Because of this excess transcript, persons will hold Down Syndrome because they have three transcripts of each cistron alternatively of two. The excess chromosome transcript makes it hard for cells to properly map in the ordinance protein production. Resultantly there will be an unideal production of protein has big effects and because Down syndrome is caused by the presence of a whole chromosome, there is no specific location on the chromosome that Down syndrome is linked to. [ 9 ]

Nondisjunction is the cause for Down syndrome, and affects approximately 1/169 births. Male prevalence is comparatively higher, and adult females who are gestating their babe after the age of 40 have an increased opportunity of holding a kid with Down syndrome. Down syndrome has no strong relation to race, nationality, actions of female parent or male parent during gestation, etc. After the age of 40, the hazard is increased with mother’s age, nevertheless if the first kid has translocation Down Syndrome, holding another kid with Down syndrome is greatly increased. [ 10 ]


Hazard of holding a babe with Down syndrome

25 old ages

1 in 1,250

30 old ages

1 in 1,000

35 old ages

1 in 400

40 old ages

1 in 100

45 old ages

1 in 30

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Possible Nondisjunction Pedigree

In the organic structure, it is suggested that “The cognitive and developmental jobs associated with Down syndrome are linked to a cardinal encephalon protein. This protein is SNX27 which is needed by the encephalon in order for nerve cells to work properly” . [ 11 ] Down syndrome people’s encephalons have lower degrees of the protein SNX27, nevertheless SNX27 is imperative for encephalon map since it keeps glutamate receptors on the surface, leting nerve cells to work. The excess chromosome 21 that encodes a micro MRNA ( miR-155 ) , and the excess miR-155 allow SNX27 degrees to drop, diminishing glutamate receptors. Because people with Down syndrome have significantly lower degrees of SNX27 a strong correlativity can be seen between the low degrees of SNX27 and addition of MiR-155. It has been concluded that the deficiency of SNX27 protein suppresses one’s encephalon map and ability to larn, retain memory, and act. [ 12 ] Unfortunately, there presently are no interventions available to alleviate this issue.

  1. Resources for Patients and their Families

National Resources

  1. National Down’s Syndrome Society’s Hotline


  1. National Down Syndrome Congress

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  1. Global Down Syndrome Foundation

Local Resources

  1. Puget Sound and Western Washington Down Syndrome Community

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