Exploring A Decade of Research on Down Syndrome: A Bibliometric Analysis

Authors

  • Rinu J George TMM College of Nursing, Thiruvalla, Kerala, India
  • Manoj Kumar L Caritas Hospital and Institute of Health Sciences, Kerala, India
  • Deepa T Unnikrishnan MOSC Medical College, Kolenchery, Kerala, India
  • Jibin Kunjavara Hamad Medical Corporation, Qatar
  • Shiny T Sam TMM College of Nursing, Thiruvalla, Kerala, India

DOI:

https://doi.org/10.55489/njcm.150420243588

Keywords:

Down Syndrome, Chromosome, Bibliometric Analysis

Abstract

Aims: Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. The research landscape of Down Syndrome is not portrayed clearly by published literature. This study aimed to analyse published literature globally by the medical fraternity in the field of Down syndrome using bibliometric analysis.

Methodology: Bibliometric information on literature regarding said topic using specific keywords was searched and collected in the Scopus database. VOSviewer (1.6.18) was applied to conduct bibliometric analysis and visualization.

Results: The study highlighted the most significant journals, authors, co-cited authors, institutions, keywords co-occurrence, and most contributed countries in the area of Down syndrome based on bibliometric analysis of studies taken from the database of Scopus for the past ten years (2014–first quarter of 2023).

Conclusion: This analysis applied state-of-the-art bibliometric and scientific mapping methods to provide researchers and other stakeholders with a panoramic view of Down syndrome from 2014 –2023. Publications in the field show a stable trend, within developed countries. Funding support is much needed to proceed with such topics as Down syndrome and that may be the reason why underdeveloped countries are still behind in the field.

References

Galdzicki Z, J. Siarey R. Understanding mental retardation in Down's syndrome using trisomy 16 mouse models. Genes, Brain and Behavior. 2003 Jun;2(3):167-78. Doi: https://doi.org/10.1034/j.1601-183X.2003.00024.x PMid:12931790

Doran E, Keator D, Head E, Phelan MJ, Kim R, Totoiu M, Barrio JR, Small GW, Potkin SG, Lott IT. Down syndrome, partial trisomy 21, and absence of Alzheimer's disease: the role of APP. Journal of Alzheimer's Disease. 2017 Jan 1;56(2):459-70. Doi: https://doi.org/10.3233/JAD-160836 PMid:27983553 PMCid:PMC5662115

Centers for Disease Control and Prevention. Improved national prevalence estimates for 18 selected major birth defects - United States, 1999 - 2001. Morbidity and Mortality Weekly Report. 2006; 54:1301-1305.

Epstein CJ: Down syndrome (trisomy 21). In Metabolic and Molecular Bases of Inherited Disease. Edited by: Scriver CA, Beaudet AL, Sly WS, Valle D. 1995, New York: McGraw Hill, 749-794.

Pennington BF, Moon J, Edgin J, Stedron J, Nadel L: The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. Child Dev. 2003, 74: 75-93. Doi: https://doi.org/10.1111/1467-8624.00522 PMid:12625437

Nadel L: Down's syndrome: a genetic disorder in biobehavioral perspective. Genes Brain Behav. 2003, 2: 156-166. Doi: https://doi.org/10.1034/j.1601-183X.2003.00026.x PMid:12931789

Gardiner K. Gene-dosage effects in Down syndrome and trisomic mouse models. Genome biology. 2004 Sep; 5:1-4.

LeJeune J, Gautier M & Turpin R Study of somatic chromosomes from 9 mongoloid children [French]. C. R. Hebd. Seances. Acad. Sci 248, 1721-1722 (1959).

Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome. Nature Reviews Disease Primers. 2020 Jan;6(1):9. Doi: https://doi.org/10.1038/s41572-019-0143-7 PMid:32029743 PMCid:PMC8428796

Abdel Hady S, Afifi HH, Abdel Ghany EA, Taher MB, Eid MM (2015) Micronucleus assay as a biomarker for chromosome malsegregation in young mothers with Down syndrome children. Genet Couns 26:13-19

Alverson CJ, Strickland MJ, Gilboa SM, Correa A (2011) Maternal smoking and congenital heart defects in the Baltimore-Washington Infant Study. Pediatrics 127: e647-e653 Doi: https://doi.org/10.1542/peds.2010-1399

Coppedè F. Risk factors for Down syndrome. Archives of toxicology. 2016 Dec;90(12):2917-29. Doi: https://doi.org/10.1007/s00204-016-1843-3 PMid:27600794

Berger J. Interactions between parents and their infants with Down syndrome. Children with Down syndrome: A developmental perspective. 1990 Mar 30; 4:101-46. Doi: https://doi.org/10.1017/CBO9780511581786.005 PMid:2160530

Chen C, Paul RJ. Visualizing a knowledge domain's intellectual structure. Computer. 2001 Mar;34(3):65-71. Doi: https://doi.org/10.1109/2.910895

Kumar M, George RJ, PS A. Bibliometric analysis for medical research. Indian Journal of Psychological Medicine. 2023 May;45(3):277-82. Doi: https://doi.org/10.1177/02537176221103617 PMid:37152388 PMCid:PMC10159556

Donthu N, Kumar S, Mukherjee D, Pandey N, Lim WM. How to conduct a bibliometric analysis: An overview and guidelines. Journal of Business Research. 2021 Sep 1; 133:285-96. Doi: https://doi.org/10.1016/j.jbusres.2021.04.070

Sagar VA, Davies EJ, Briscoe S, Coats AJS, Dalal HM, Lough F, et al. Exercise-based rehabilitation for heart failure: systematic review and meta-analysis. Open Heart. 2015;2(1): e000163. Doi: https://doi.org/10.1136/openhrt-2014-000163 PMid:25685361 PMCid:PMC4316592

Espinosa JM. Down Syndrome and COVID-19: A Perfect Storm? Cell Rep Med. 2020 May 19;1(2):100019. Doi: https://doi.org/10.1016/j.xcrm.2020.100019 PMid:32501455 PMCid:PMC7252041

Huang C, Wang Y, Li X, Ren L, Zhao J, Hu Y, Zhang L, Fan G, Xu J, Gu X, Cheng Z. Clinical features of patients infected with 2019 novel coronavirus in Wuhan, China. The lancet. 2020 Feb 15;395(10223):497-506. Doi: https://doi.org/10.1016/S0140-6736(20)30183-5 PMid:31986264

Ruan Q, Yang K, Wang W, Jiang L, Song J. Clinical predictors of mortality due to COVID-19 based on an analysis of data of 150 patients from Wuhan, China. Intensive care medicine. 2020 May;46(5):846-8. Doi: https://doi.org/10.1007/s00134-020-05991-x PMid:32125452 PMCid:PMC7080116

Tisoncik JR, Korth MJ, Simmons CP, Farrar J, Martin TR, Katze MG. Into the eye of the cytokine storm. Microbiology and molecular biology reviews. 2012 Mar;76(1):16-32. Doi: https://doi.org/10.1128/MMBR.05015-11 PMid:22390970 PMCid:PMC3294426

De Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine. 2017 Apr;19(4):439-47. Doi: https://doi.org/10.1038/gim.2016.127 PMid:27608174

De Graaf G, Buckley F, Skotko B. People living with down syndrome in the USA: Births and population. Down Syndrome Education International https://dsuri. net/us-population-factsheet. 2019.

De Graaf G, Buckley F, Skotko B. People living with down syndrome in the USA: Births and population. Down Syndrome Education International https://dsuri. net/us-population-factsheet. 2019.

Bittles AH, Bower C, Hussain R, Glasson EJ. The four ages of Down syndrome. The European Journal of Public Health. 2007 Apr 1;17(2):221-5. Doi: https://doi.org/10.1093/eurpub/ckl103 PMid:16857692

Down Syndrome: Research Activities and Scientific Advances | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development [Internet]. 2018 [cited 2023 Aug 4]. Available from: https://www.nichd.nih.gov/health/topics/down/researchinfo/activities.

Hendrix JA, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson HA et al; Opportunities, barriers, and recommendations in down syndrome research. Transl Sci Rare Dis. 2021;5(3-4):99-129. Doi: https://doi.org/10.3233/TRD-200090 PMid:34268067 PMCid:PMC8279178

De Graaf G, Buckley F and Skotko B, People living with Down syndrome in the USA, https://dsuri.net/us-population-factsheet.

Bull MJ. Down syndrome. New England Journal of Medicine. 2020 Jun 11;382(24):2344-52. Doi: https://doi.org/10.1056/NEJMra1706537 PMid:32521135

Downloads

Published

2024-04-01

How to Cite

1.
J George R, Kumar L M, Deepa T Unnikrishnan, Kunjavara J, Shiny T Sam. Exploring A Decade of Research on Down Syndrome: A Bibliometric Analysis. Natl J Community Med [Internet]. 2024 Apr. 1 [cited 2024 May 3];15(04):259-67. Available from: https://www.njcmindia.com/index.php/file/article/view/3588

Issue

Section

Original Research Articles