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VOLUME 3 , ISSUE 2 ( April-June, 2024 ) > List of Articles

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Down Syndrome: Let's Work Together to End the Stereotypes

Mario Motta, Amita Singhal, Angela B Hoyos, Abhay Lodha, Colin Michie, Michael Zemlin, Jargalsaikhan Badarch, Adrianna Frydrysiak-Brzozowska, Md Mozibur Rahman, Aimen E Ben Ayad, Surekha Ramachandran, Seema Thakur, Waldemar A Carlo, Ola D Saugstad, Kei Lui, Akhil Maheshwari, on behalf of the Global Newborn Society Down Syndrome Foundation

Keywords : Age-standardized rate, Down syndrome international network, Infant, Isochromosome, Neonate, Newborn, Ring chromosome, Robertsonian translocation, Sociodemographic characteristics, United Nations General Assembly

Citation Information : Motta M, Singhal A, Hoyos AB, Lodha A, Michie C, Zemlin M, Badarch J, Frydrysiak-Brzozowska A, Rahman MM, Ben Ayad AE, Ramachandran S, Thakur S, Carlo WA, Saugstad OD, Lui K, Maheshwari A, on behalf of the Global Newborn Society Down Syndrome Foundation. Down Syndrome: Let's Work Together to End the Stereotypes. 2024; 3 (2):65-69.

DOI: 10.5005/jp-journals-11002-0096

License: CC BY-NC 4.0

Published Online: 21-06-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Abstract

Each year, we observe the 21st day of March as our World Down Syndrome Day. The goal is to raise public awareness of Down syndrome (DS) and encourage all member states, relevant organizations of the UN system, all member states, other international organizations, non-governmental organizations, and the private sector to join this effort. The epidemiology of DS is complex. The incidence of DS is estimated to be somewhere between 1 in 1,000 and 1 in 1,200 live births worldwide, but there may well be some temporal, racial/ethnic, and geographical variability in the prevalence of DS. Most infants with DS have an extra copy of chromosome 21, which occurs due to the failure of chromosome 21 to separate during gametogenesis. However, a minority with the same phenotype may have a Robertsonian translocation, an isochromosome, or a ring chromosome. Increasing information suggests that many of the most frequently seen phenotypic features may be rooted in sequential variability in only one band, the 21q22. The characteristic facial appearance, cardiac anomalies such as the endocardial cushion defect, neurodevelopmental delay, and many dermatoglyphic changes could result from a small region including the genes for superoxide dismutase in the region 21q22.1, the amyloid precursor protein mapping in 21q11.2-21.05, and six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. Speaking from this medical perspective, we need to understand the pathophysiology of DS to meet their healthcare needs. If we could do so, we could make a small change in this world.


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  1. United-Nations. World Down Syndrome Day 21 March New York, New York - United States: United Nations; 2024. Available from: https://www.un.org/en/observances/down-syndrome-day.
  2. International DS. 13th World Down Syndrome Day Conference New York, New York - United States: Down Syndrome International. 2024. Available from: https://events.ds-int.org/13thWorldDown SyndromeDayConference.
  3. Varshney K, Iriowen R, Morrell K, et al. Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review. Am J Med Genet A 2022;188(8):2293–2302. DOI: 10.1002/ajmg.a.62854.
  4. Roizen NJ, Patterson D. Down's syndrome. Lancet 2003;361(9365):1281–1289. DOI: 10.1016/S0140-6736(03)12987-X.
  5. Aprigio J, de Castro CML, Lima MAC, et al. Mothers of children with Down syndrome: A clinical and epidemiological study. J Community Genet 2023;14(2):189–195. DOI: 10.1007/s12687-022-00627-7.
  6. Yoon PW, Freeman SB, Sherman SL, et al. Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: A population-based study. Am J Hum Genet 1996;58(3):628–633. PMID: 8644722.
  7. DiMaio MS, Baumgarten A, Greenstein RM, et al. Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels. N Engl J Med 1987;317(6):342–346. DOI: 10.1056/NEJM198708063170603.
  8. Fiscella K, Franks P, Gold MR, et al. Inequality in quality: Addressing socioeconomic, racial, and ethnic disparities in health care. JAMA 2000;283(19):2579–2584. DOI: 10.1001/jama.283.19.2579.
  9. Chen L, Wang L, Wang Y, et al. Global, regional, and national burden and trends of down syndrome from 1990 to 2019. Front Genet 2022;13:908482. DOI: 10.3389/fgene.2022.908482.
  10. Hassold T, Sherman S. Down syndrome: Genetic recombination and the origin of the extra chromosome 21. Clin Genet 2000;57(2):95–100. DOI: 10.1034/j.1399-0004.2000.570201.x.
  11. Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome. Nat Rev Dis Primers 2020;6(1):9. DOI: 10.1038/s41572-019-0143-7.
  12. Akhtar F, Bokhari SRA. Down Syndrome. 2023. In: StatPearls. Treasure Island (FL): StatPearls Publishing. Available from: https://www.ncbi.nlm.nih.gov/books/NBK526016/.
  13. Asim A, Kumar A, Muthuswamy S, et al. “Down syndrome: An insight of the disease”. J Biomed Sci 2015;22(1):41. DOI: 10.1186/s12929-015-0138-y.
  14. Antonarakis SE. Short arms of human acrocentric chromosomes and the completion of the human genome sequence. Genome Res 2022;32(4):599–607. DOI: 10.1101/gr.275350.121.
  15. Priest JH, Blackston RD, Pearse LA, et al. Molecular evidence for true isochromosome 21q. Hum Genet 1988;81(1):1–3. DOI: 10.1007/BF00283718.
  16. Hulten MA, Jonasson J, Nordgren A, et al. Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the implications for individual carriers and how does it come about? Curr Genomics 2010;11(6):409–419. DOI: 10.2174/138920210793176056.
  17. Melnyk AR, Ahmed I, Taylor JC. Prenatal diagnosis of familial ring 21 chromosome. Prenat Diagn 1995;15(3):269–273. DOI: 10.1002/pd.1970150310.
  18. Yip MY. Autosomal ring chromosomes in human genetic disorders. Transl Pediatr 2015;4(2):164–174. DOI: 10.3978/j.issn.2224-4336.2015.03.04.
  19. Bertini V, Valetto A, Uccelli A, et al. Ring chromosome 21 and reproductive pattern: A familial case and review of the literature. Fertil Steril 2008;90(5):2004 e1–e5. DOI: 10.1016/j.fertnstert.2008. 01.087.
  20. Crombez EA, Dipple KM, Schimmenti LA, et al. Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. Clin Dysmorphol 2005;14(4):183–187. PMID: 16155419.
  21. Korenberg JR, Chen XN, Schipper R, et al. Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc Natl Acad Sci U S A 1994;91(11):4997–5001. DOI: 10.1073/pnas.91.11.4997.
  22. Al-Nbaheen MS. Analysis of Downs syndrome with molecular techniques for future diagnoses. Saudi J Biol Sci 2018;25(3):558–562. DOI: 10.1016/j.sjbs.2016.01.044.
  23. Turrens JF. Increased superoxide dismutase and Down's syndrome. Med Hypotheses 2001;56(6):617–619. DOI: 10.1054/mehy.2001. 1327.
  24. Tosh JL, Rhymes ER, Mumford P, et al. Genetic dissection of down syndrome-associated alterations in APP/amyloid-beta biology using mouse models. Sci Rep 2021;11(1):5736. DOI: 10.1038/s41598-021-85062-3.
  25. Korenberg JR, Kawashima H, Pulst SM, et al. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 1990;47(2):236–246. PMID: 2143053.
  26. Qi Q, Zhou X, Jiang Y, et al. A rare de novo duplication of chromosome 21q22.12 –> q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization. Mol Cytogenet 2013;6(1):11. DOI: 10.1186/1755-8166-6-11.
  27. Patterson D. Genetic mechanisms involved in the phenotype of Down syndrome. Ment Retard Dev Disabil Res Rev 2007;13(3):199–206. DOI: 10.1002/mrdd.20162.
  28. Hendrix JA, Amon A, Abbeduto L, et al. Opportunities, barriers, and recommendations in down syndrome research. Transl Sci Rare Dis 2021;5(3–4):99–129. DOI: 10.3233/trd-200090.
  29. Donovan O. Changing ideas, changing norms: The case of ‘the responsibility to rebuild. Cooperation and Conflict 2018;53(3):392–410. DOI: 10.1177/0010836717750203.
  30. Garvin DA, Margolis JD. The Art of Giving and Receiving Advice Boston, Massachussetts, USA: Harvadr Business Review. 2015. Available from: https://hbr.org/2015/01/the-art-of-giving-and-receiving-advice.
  31. International DS, Society NDS, Association DsS. End The Stereotypes Exmouth, Devon, United Kingdom: World Down Syndrome Day team at Down Syndrome International. 2024. Available from: https://www.worlddownsyndromeday.org/end-the-stereotypes.
  32. Marshall J, Tanner JP, Kozyr YA, et al. Services and supports for young children with Down syndrome: Parent and provider perspectives. Child Care Health Dev 2015;41(3):365–373. DOI: 10.1111/cch. 12162.
  33. RF World Down Syndrome Day: A Chance to End the Stereotypes: United Nations. 2024. Available from: https://www.un.org/en/un-chronicle/world-down-syndrome-day-chance-end-stereo types.
  34. Society GN. Every Baby Counts; Each time we lose an infant, we lose an entire life and its potential Clarksville, Maryland, USA: Global Newborn Society. 2024. Available from: https://www.globalnewbornsociety.org/.
  35. International WDSDtaDS. Lots Of Socks campaign: Down Syndrome International. 2024. Available from: https://www.worlddownsyndromeday.org/lots-of-socks-campaign.
  36. Fenton TR. A new growth chart for preterm babies: Babson and Benda's chart updated with recent data and a new format. BMC Pediatr 2003;3:13. DOI: 10.1186/1471-2431-3-13.
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