Understanding Down Syndrome: Global Perspectives, Advances, and Challenges in the Context of Bangladesh

Rashed Ahmed; Md. Tanzimur Rahman Tamim

doi:10.56566/thrive.v2i1.316

Understanding Down Syndrome: Global Perspectives, Advances, and Challenges in the Context of Bangladesh

Authors

Rashed Ahmed , Md. Tanzimur Rahman Tamim

DOI:

10.56566/thrive.v2i1.316

Published:

2025-03-31

Issue:

Vol. 2 No. 1 (2025): March

Keywords:

Genetic Factors, Public Awareness, Syndrome, Genetic dysfunction, Strategies, Triosomy21

Articles

Downloads

PDF

How to Cite

Ahmed, R., & Tamim, M. T. R. (2025). Understanding Down Syndrome: Global Perspectives, Advances, and Challenges in the Context of Bangladesh. THRIVE Health Science Journal, 2(1), 16–28. https://doi.org/10.56566/thrive.v2i1.316

Download Citation

Abstract

Down syndrome (DS), or Trisomy 21, is a genetic disorder characterized by intellectual disabilities, developmental delays, and various health complications. This comprehensive review examines the causes, symptoms, and management strategies of DS, emphasizing global research advancements and their relevance to Bangladesh. This article highlights emerging therapies, genetic studies, and social advocacy efforts, proposing strategies to bridge the gap in healthcare and research. It aims to inspire collaborative efforts to improve the quality of life for individuals with DS globally and within Bangladesh. Down Syndrome (DS), or Trisomy 21, is a genetic disorder characterized by developmental delays, intellectual disabilities, and a variety of health complications. This review explores the causes, symptoms, and management strategies of DS, emphasizing the latest global advancements such as CRISPR gene editing and neurodevelopmental imaging. Despite these breakthroughs, Bangladesh continues to face significant challenges in diagnosing and managing DS due to inadequate healthcare infrastructure, limited diagnostic resources, and persistent societal stigma.The paper highlights disparities in outcomes for individuals with DS between developed and developing nations, focusing on the stark differences in healthcare access, early intervention programs, and societal acceptance. Case studies illustrate the successes of advanced therapies in developed countries while underscoring the gaps in resources and awareness in Bangladesh. These findings emphasize the urgent need for targeted interventions, including improved diagnostic tools, enhanced healthcare systems, and inclusive social practices in developing nations.Additionally, the article examines the role of emerging therapies and advocacy efforts in bridging these gaps. By leveraging global advancements, promoting public-private partnerships, and fostering international collaborations, the study proposes actionable strategies to improve the quality of life for individuals with DS.

References

Abukhaled, Y., Hatab, K., Awadhalla, M., & Hamdan, H. (2024). Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach. Journal of Neurology, 271(1), 87-104. https://doi.org/10.1007/s00415-023-11890-0

Al Mamun, M. A. ., Hussain, M. ., & Shahid Khan, M. K. E. . (2022). Consanguinity and Risk of Congenital Heart Defects in Bangladesh. Dhaka Shishu (Children) Hospital Journal, 37(1), 34–39. https://doi.org/10.3329/dshj.v37i1.59091

Ashrafun, L., Uddin, M. J., & Debnath, D. (2024). Caregiver Narratives of Children with Autism Spectrum Disorder: Exploring Symptom Recognition, Diagnosis, and Interventions. Journal of Autism and Developmental Disorders, 1-14. https://doi.org/10.1007/s10803-024-06440-0

Beresford-Webb, J. A., McAllister, C. J., Sleigh, A., Walpert, M. J., Holland, A. J., & Zaman, S. H. (2025). Mitochondrial Dysfunction Correlates with Brain Amyloid Binding, Memory, and Executive Function in Down Syndrome: Implications for Alzheimer's Disease in Down Syndrome. Brain sciences, 15(2), 130. https://doi.org/10.3390/brainsci15020130

Bull, M. J., Trotter, T., Santoro, S. L., Christensen, C., Grout, R. W., & Council on Genetics. (2022). Health supervision for children and adolescents with Down syndrome. Pediatrics, 149(5), e2022057010. https://doi.org/10.1542/peds.2022-057010

Cecerska-Heryć, E., Pękała, M., Serwin, N., Gliźniewicz, M., Grygorcewicz, B., Michalczyk, A., ... & Dołęgowska, B. (2023). The use of stem cells as a potential treatment method for selected neurodegenerative diseases. Cellular and Molecular Neurobiology, 43(6), 2643-2673. https://doi.org/10.1007/s10571-023-01344-6

Chen, L., Wang, L., Wang, Y., Hu, H., Zhan, Y., Zeng, Z., & Liu, L. (2022). Global, regional, and national burden and trends of Down syndrome from 1990 to 2019. Frontiers in Genetics, 13, 908482. https://doi.org/10.3389/fgene.2022.908482

Chowdhury, S. A., Islam, M. A., Nishat, M. T. A., Nadiv, M. A., & Ormi, N. J. (2024, December). Navigating inclusion: understanding social perception, educational opportunity, and challenges for neurodiverse students in Bangladeshi formal education. In Frontiers in Education (Vol. 9, p. 1452296). Frontiers Media SA. https://doi.org/10.3389/feduc.2024.1452296

Costa, A. C. (2011). On the promise of pharmacotherapies targeted at cognitive and neurodegenerative components of Down syndrome. Developmental Neuroscience, 33(5), 414-427. https://doi.org/10.1159/000330861

Costa, A. C., Brandão, A. C., Boada, R., Barrionuevo, V. L., Taylor, H. G., Roth, E., ... & Ruedrich, S. (2022). Safety, efficacy, and tolerability of memantine for cognitive and adaptive outcome measures in adolescents and young adults with Down syndrome: a randomised, double-blind, placebo-controlled phase 2 trial. The Lancet Neurology, 21(1), 31-41. https://doi.org/10.1016/S1474-4422(21)00369-0

da Silva, E. C. F., Mota, K. C. C., & Carbinatto, M. V. (2025). Technique And Aesthetics: Lived Experience In Rhythmic Gymnastics By An Athlete With Down Syndrome. Science of Gymnastics Journal, 17(1), 105-121. https://doi.org/10.52165/sgj.17.1.105-121

Esbensen, A. J., Schworer, E. K., & Hartley, S. L. (2024). Down syndrome. Intellectual and Developmental Disabilities: A Dynamic Systems Approach, 279-302. https://doi.org/10.1007/978-3-031-66932-3_13

Fortea, J., Zaman, S. H., Hartley, S., Rafii, M. S., Head, E., & Carmona-Iragui, M. (2021). Alzheimer's disease associated with Down syndrome: a genetic form of dementia. The Lancet Neurology, 20(11), 930-942. https://doi.org/10.1016/S1474-4422(21)00245-3

Grzadzinski, R., Mata, K., Bhatt, A. S., Jatkar, A., Garic, D., Shen, M. D., ... & IBIS Network Chappell C. Shaw D. Constantino J. Elison J. Wolff J. Pruett J. Collins DL Fonov V. MacIntyre L. Das S. Truong K. Volk H. Fallin D. (2024). Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome. Journal of neurodevelopmental disorders, 16(1), 70. https://doi.org/10.1186/s11689-024-09581-6

Hartley, S. L., Handen, B. L., Tudorascu, D., Lee, L., Cohen, A., Piro‐Gambetti, B., ... & Christian, B. T. (2022). Role of tau deposition in early cognitive decline in Down syndrome. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 14(1), e12256. https://doi.org/10.1002/dad2.12256

Huang, T., Fakurazi, S., Cheah, P. S., & Ling, K. H. (2024). Chromosomal and cellular therapeutic approaches for Down syndrome: A research update. Biochemical and Biophysical Research Communications, 150664. https://doi.org/10.1016/j.bbrc.2024.150664

Hussain, M. M., & Raihan, M. M. H. (2022). Disadvantage, discrimination, and despair: Parental experiences of caring for children with disability in Bangladesh. Asian Social Work and Policy Review, 16(1), 80-91. https://doi.org/10.1111/aswp.12249

Islam, N. N., Sumit, A. F., Chowdhury, M. M., Ullah, M. A., Araf, Y., Sarkar, B., & Gozal, D. (2022). Age and gender-related differences in quality of life of Bangladeshi patients with Down Syndrome: A cross-sectional study. Heliyon, 8(1). https://doi.org/10.1016/j.heliyon.2022.e08777

Korlimarla, A., Hart, S. J., Spiridigliozzi, G. A., & Kishnani, P. S. (2021). Down syndrome. Cassidy and Allanson's Management of Genetic Syndromes, 355-387. https://doi.org/10.1002/9781119432692.ch24

Koul, A. M., Ahmad, F., Bhat, A., Aein, Q. U., Ahmad, A., Reshi, A. A., & Kaul, R. U. R. (2023). Unraveling Down syndrome: from genetic anomaly to artificial intelligence-enhanced diagnosis. Biomedicines, 11(12), 3284. https://doi.org/10.3390/biomedicines11123284

Kwon, J. H., Advani, S. D., Branch-Elliman, W., Braun, B. I., Cheng, V. C. C., Chiotos, K., ... & Mody, L. (2024). A call to action: the SHEA research agenda to combat healthcare-associated infections. Infection Control & Hospital Epidemiology, 45(9), 1023-1040. https://doi.org/10.1017/ice.2024.125

Lakhani, A., Ali, T. S., Ashraf, D., & Roy, D. K. (2025). Exploring Informal Social Support Experiences and Coping Strategies in Families Raising a Child with an Intellectual Disability. The Family Journal, 33(1), 150-171. https://doi.org/10.1177/10664807241283045

Mainville, B., Flore, L. A., & Carmany, E. P. (2025). An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome. American Journal of Medical Genetics Part A, e63999. https://doi.org/10.1002/ajmg.a.63999

Maure-Blesa, L., Rodríguez-Baz, I., Carmona-Iragui, M., & Fortea, J. (2024). What Can We Learn About Alzheimer’s Disease from People with Down Syndrome?. https://doi.org/10.1007/7854_2024_546

Moon, J. E., & Lawrence, J. B. (2022). Chromosome silencing in vitro reveals trisomy 21 causes cell-autonomous deficits in angiogenesis and early dysregulation in Notch signaling. Cell reports, 40(6). https://doi.org/10.1016/j.celrep.2022.111174

Munsi, A. S., Hussain, M., Rima, R., Biswas, R., Mahmud, S., & Sayeed, A. (2015). Pattern of congenital heart diseases among clinically diagnosed Downs syndrome children. Northern International Medical College Journal, 6(1), 18–20. https://doi.org/10.3329/nimcj.v6i1.23154

Niyibizi, J. B., Rutayisire, E., Mochama, M., Habtu, M., Nzeyimana, Z., & Seifu, D. (2023). Awareness, attitudes towards genetic diseases and acceptability of genetic interventions among pregnant women in Burera district, Rwanda. BMC Public Health, 23(1), 1961. https://doi.org/10.1186/s12889-023-16866-3

Nuri, R. P., Aldersey, H. M., Ghahari, S., & Huque, A. S. (2022). Experience of families in accessing government-led support for children with disabilities in Bangladesh. Disability and Rehabilitation, 44(8), 1354-1366. https://doi.org/10.1080/09638288.2020.1804000

Ptomey, L. T., & Wittenbrook, W. (2015). Position of the Academy of Nutrition and Dietetics: nutrition services for individuals with intellectual and developmental disabilities and special health care needs. Journal of the Academy of Nutrition and Dietetics, 115(4), 593-608. https://doi.org/10.1016/j.jand.2015.02.002

Roizen, N. J., & Patterson, D. (2003). Down's syndrome. The Lancet, 361(9365), 1281-1289. https://doi.org/10.1016/S0140-6736(03)12987-X

Sijuola, R., & Davidova, J. (2022). Challenges of implementing inclusive education: Evidence from selected developing countries. Rural Environment Education Personality, 15, 140-147. https://doi.org/10.22616/REEP.2022.15.017

Sivandzade, F., & Cucullo, L. (2021). Regenerative stem cell therapy for neurodegenerative diseases: an overview. International journal of molecular sciences, 22(4), 2153. https://doi.org/10.3390/ijms22042153

Srivastava, A., & Bolia, R. (2019). Pediatric liver disease in the Asian continent. Pediatric Hepatology and Liver Transplantation, 743-764. https://doi.org/10.1007/978-3-319-96400-3_41

Stephanie, M. N., Abuom, T. O., & Karia, M. K. (2024). Phonological Disorders As A Determinant Of Speech Intelligibility Among Learners With Down Syndrome In Public Primary Schools, Nairobi County, Kenya. European Journal of Special Education Research, 10(3). http://dx.doi.org/10.46827/ejse.v10i3.5390

Ta, D., Downs, J., Baynam, G., Wilson, A., Richmond, P., & Leonard, H. (2022). A brief history of MECP2 duplication syndrome: 20-years of clinical understanding. Orphanet Journal of Rare Diseases, 17(1), 131. https://doi.org/10.1186/s13023-022-02278-w

Therrell, B. L., Padilla, C. D., Borrajo, G. J., Khneisser, I., Schielen, P. C., Knight-Madden, J., ... & Kase, M. (2024). Current status of newborn bloodspot screening worldwide 2024: a comprehensive review of recent activities (2020–2023). International Journal of Neonatal Screening, 10(2), 38. https://doi.org/10.3390/ijns10020038

ToloueiRakhshan, S., Byford, S., RaziMoghadam, M., Moradi, F., & Soltani, S. (2024). Determinants of Healthcare costs in individuals with Down syndrome: A systematic review. https://doi.org/10.21203/rs.3.rs-3967232/v1

Tungate, A. S., & Conners, F. A. (2021). Executive function in Down syndrome: A meta-analysis. Research in developmental disabilities, 108, 103802. https://doi.org/10.1016/j.ridd.2020.103802

Tushar, A. K., Antara, I. J., Das, D., Chandra, P., Soron, T. R., Haque, M. M., ... & Ahmed, S. I. (2020, June). We need more power to stand up: Designing to combat stigmatization of the caregivers of children with autism in Urban Bangladesh. In Proceedings of the 2020 International Conference on Information and Communication Technologies and Development (pp. 1-12). https://doi.org/10.1145/3392561.3394643

Uddin, M. (2024). Genetic Disorders: Global Impacts, Healthcare Disparities, and Challenges in Bangladesh. Journal of Precision Biosciences, 6(1), 1-17. https://doi.org/10.25163/biosciences.6110044

Weijerman, M. E., & De Winter, J. P. (2010). Clinical practice: The care of children with Down syndrome. European journal of pediatrics, 169, 1445-1452. https://doi.org/10.1007/s00431-010-1253-0

Windsperger, K., & Hoehl, S. (2021). Development of Down syndrome research over the last Decades–What healthcare and education professionals need to know. Frontiers in psychiatry, 12, 749046. https://doi.org/10.3389/fpsyt.2021.749046

World Health Organization. (2022). Down Syndrome global statistics. Retrieved from https://www.who.int

Zammit, M. D., Betthauser, T. J., McVea, A. K., Laymon, C. M., Tudorascu, D. L., Johnson, S. C., ... & Alzheimer's Biomarker Consortium–Down Syndrome. (2024). Characterizing the emergence of amyloid and tau burden in Down syndrome. Alzheimer's & Dementia, 20(1), 388-398. https://doi.org/10.1002/alz.13444

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with THRIVE Health Science Journal, agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution 4.0 International License (CC-BY License). This license allows authors to use all articles, data sets, graphics, and appendices in data mining applications, search engines, web sites, blogs, and other platforms by providing an appropriate reference. The journal allows the author(s) to hold the copyright without restrictions and will retain publishing rights without restrictions.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in THRIVE Health Science Journal.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).

Understanding Down Syndrome: Global Perspectives, Advances, and Challenges in the Context of Bangladesh

Authors

DOI:

Published:

Issue:

Keywords:

Articles

Downloads

How to Cite

Abstract

References

License

Main Menu

Template

Visitors

Keywords

Additional Tools

Address and Location

Contact Us

Current Issue

Open Access Journals

Contact Us

Information

Share & Follow