The Complexities of Down Syndrome Healthcare: Medical Comorbidities, and Care Models
Main Article Content
Abstract
Down syndrome (DS), often caused by trisomy 21, is the most common form of intellectual disability among newborn infants worldwide 1 . Differences in annual live births have been observed per continent: around 17,000 annual live births of children with DS have been estimated in Europe 2 , around 5,100 annual live births of children with DS have been estimated in the US3, and around 300 annual live births of children with DS have been estimated in Australia and New Zealand 4 . The presence of prenatal screening and elective terminations has negatively influenced the live birth rates of children with DS.
The availability and accessibility of prenatal testing (like non-invasive prenatal testing) and genetic counselling certainly have a current and future impact on the number of live births with DS 5 . In addition, there is a risk of the routinization of prenatal screening, where parents are no longer facilitated to make informed decisions based on their own moral and practical considerations, but family members, relatives, and friends alike, implicitly or explicitly expect that parents will choose prenatal screening, diagnostic testing, and, perhaps the termination of pregnancy 6,7 . Such potential societal pressure may increase the effect of the availability of prenatal screening on the live birth rate of children with DS. Other factors - such as religious beliefs, economics, the complexity of society, changing maternal ages, cultural beliefs, and social norms - likely play additional roles. The anticipated quality of life for a person with DS might also be an essential consideration in the decision-making for some expectant parents 6 .
Article Details
How to Cite
J.T, Vincent Peters; PETER, de Winter J..
The Complexities of Down Syndrome Healthcare: Medical Comorbidities, and Care Models.
Medical Research Archives, [S.l.], v. 11, n. 5, june 2023.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/3956>. Date accessed: 28 apr. 2024.
doi: https://doi.org/10.18103/mra.v11i5.3956.
Section
Research Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
1. Bull MJ. Down syndrome. The New England Journal of Medicine. 2020;382(24):2344-2352. https://doi.org/10.1056/NEJMra1706537
2. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. European Journal of Human Genetics. 2021;29:402-410. https://doi.org/10.1038/s41431-020-00748-y
3. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine. 2017;19(4):439-447. https://doi.org/10.1038/gim.2016.127
4. de Graaf G, Skladzien E, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Australia and New Zealand. Genetics in Medicine. 2022;24(12);2568-2577. https://doi.org/10.1016/j.gim.2022.08.029
5. Wilmot HC, de Graaf G, van Casteren P, Buckley F, Skotko BG. Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021. European Journal of Human Genetics. 2023. https://doi.org/10.1038/s41431-023-01330-y
6. Crombag NM, Page-Christiaens GC, Skotko BG, de Graaf G. Receiving the news of Down syndrome in the era of prenatal testing. American Journal of Medical Genetics: Part A. 2020;182:374-385. https://doi.org/10.1002/ajmg.a.61438
7. de Groot-van der Mooren M, de Graaf G, Weijerman ME, Hoffer MJV, Knijnenburg J, et al. Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study. Prenatal Diagnosis. 2021;41(10):1351-1359. https://doi.org/10.1002/pd.6003
8. van den Driessen Mareeuw FA, Coppus AMW, Delnoij DMJ, de Vries E. Capturing the complexity of healthcare for people with Down syndrome in quality indicators - A Delphi study involving healthcare professionals and patient organisations. BMC Health Services Research. 2020;20(1):694. https://doi.org/10.1186/s12913-020-05492-z
9. Mulder FECM, Bok LA, van Douveren FQMP, Pruijs HEH, Zeegers AVCM. Effect of the Sharrard procedure on hip instability in children with Down syndrome: A retrospective study. Journal of Children’s Orthopaedics. 2021;15(5):488-495. https://doi.org/10.1302/1863-2548.15.210052
10. Goemans, B.F., Noort, S., Blink, M, Wang, Y, Peters, STCJ, et al. Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia. Leukemia. 2021;35:2403-2406. https://doi.org/10.1038/s41375-021-01128-1
11. van Gameren-Oosterom HBM, Weijerman ME, van Wieringen H, de Winter JP, van Wermeskerken AM. Clinical practice - Latest insights in optimizing the care of children with Down syndrome. European Journal of Pediatrics. 2023. https://doi.org/10.1007/s00431-023-04890-9
12. Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A. Sleep problems and obstructive sleep apnea in children with Down syndrome, an overview. International Journal of Pediatric Otorhinolaryngology. 2016;82:12-15. https://doi.org/10.1016/j.ijporl.2015.12.014
13. Bull MJ. Improvement of outcomes for children with Down syndrome. The Journal of Pediatrics. 2018;193:9-10. https://doi.org/10.1016/j.jpeds.2017.11.014
14. de Weger C, Boonstra N, Goossens J. Effects of bifocals on visual acuity in children with DS: A randomized controlled trial. Acta Ophthalmologica. 2019;97(4):378-393. https://doi.org/10.1111/aos.13944
15. Martin T, Smith A, Breatnach CR, Kent E, Shanahan, I, et al. Infants born with Down syndrome: Burden of disease in the early neonatal period. The Journal of Pediatrics. 2018;193:21-26. https://doi.org/10.1016/j.jpeds.2017.09.046
16. Godfrey M, Hepburn S, Fidler DJ, Tapera T, Zhang F, et al. Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only. Research in Developmental Disabilities. 2019;89:83-93. https://doi.org/10.1016/j.ridd.2019.03.003
17. Santoro JD, Filipink RA, Baumer NT, Bulova PD, Handen BL. Down syndrome regression disorder: Updates and therapeutic advances. Current Opinion in Psychiatry. 2023;36(2):96-103. https://doi.org/10.1097/YCO.0000000000000845
18. Rafii MS, Kleschevnikov AM, Sawa M, Mobley WC. Down syndrome. Handbook of Clinical Neurology. 2019;167:321-336. https://doi.org/10.1016/B978-0-12-804766-8.00017-0
19. Lorenzon N, Musoles-Lleó J, Turrisi F, Gomis-González M, De La Torre R, et al. State-of-the-art therapy for Down syndrome. Developmental Medicine and Child Neurology. 2023. https://doi.org/10.1111/dmcn.15517
20. Weijerman ME, de Winter JP. Clinical practice: The care of children with Down syndrome. European Journal of Pediatrics. 2010;169(12):1445-1452. https://doi.org/10.1007/s00431-010-1253-0
21. Bull MJ. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406. https://doi.org/10.1542/peds.2011-1605
22. Gori C, Cocchi G, Corvaglia LT, Ramacieri G, Pulina F, et al. Down Syndrome: How to communicate the diagnosis. Italian Journal of Pediatrics. 2023;49(1):18. https://doi.org/10.1186/s13052-023-01419-6
23. Fisher PG. Who should care for children with Down syndrome. The Journal of Pediatrics. 2020;218:1-4. https://doi.org/10.1016/j.jpeds.2020.01.024
24. Joslyn N, Berger H, Skotko BG. Geospatial analyses of accessibility to Down syndrome specialty care. The Journal of Pediatrics. 2020;218:146-150. https://doi.org/10.1016/j.jpeds.2019.10.058
25. Fransen L, Peters VJT, Meijboom BR, de Vries E. Modular service provision for heterogeneous patient groups: A single case study in chronic Down syndrome care. BMC Health Services Research. 2019;19(1):720. https://doi.org/10.1186/s12913-019-4545-8
26. Tenenbaum A, Kastiel Y, Meiner Z, Kerem E. Multidisciplinary care of persons with Down syndrome in Jerusalem. International Journal on Disability and Human Development. 2008;7(3):355-358. https://doi.org/10.1515/IJDHD.2008.7.3.355
27. Lee NC, Chien YH, Hwu WL. Integrated care for Down syndrome. Congenital Anomalies. 2016;6(3):104-106. https://doi.org/10.1111/cga.12159
28. Sothirasan K, Anand AJ, Chua MPW, Khoo PC, Chua MC. Clinical guideline for management of Down syndrome in Singapore. Proceedings of Singapore Healthcare. 2022;31. https://doi.org/10.1177/20101058221104582
29. Al Farsi AJN. Attitude of pediatricians toward establishing a “Down Syndrome Clinic”. World Wide Journal of Multidisciplinary Research and Development. 2023;9(3):16-26. Retrieved from https://wwjmrd.com/upload/attitude-of-pediatricians-toward-establishing-a-down-syndrome-clinic_1678948928.pdf
30. Peters VJT, Meijboom BR, Bunt JEH, Bok LA, van Steenbergen MW, et al. Providing person-centered care for patients with complex healthcare needs: A qualitative study. PLOS ONE. 2020;15(11): e0242418. https://doi.org/10.1371/journal.pone.0242418
31. Peters VJT. Multidisciplinary care for children with Down syndrome in the Netherlands: A modular perspective. Medical Research Archives. 2023;11(3):1-10. https://doi.org/10.18103/mra.v11i3.3531
32. van den Driessen Mareeuw FA, Coppus AMW, Delnoij DMJ, de Vries E. Quality of health care according to people with Down syndrome, their parents and support staff - A qualitative exploration. Journal of Applied Research in Intellectual Disabilities. 2020;33:496-514. https://doi.org/10.1111/jar.12692
33. Haddad F, Bourke J, Wong K, Leonard H. An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome. PLoS ONE. 2018;13(6):e0197394. https://doi.org/10.1371/journal.pone.0197394
34. Frankena TK, Naaldenberg J, Cardol M, Linehan C, van Schrojenstein Lantman-de Valk H. Active involvement of people with intellectual disabilities in health research - A structured literature review. Research in Developmental Disabilities. 2015;45-46:271-283. https://doi.org/10.1016/j.ridd.2015.08.004.
35. Kyprianou N, Hendrix J, Hillerstrom H, Grimm R, Kirova AM, et al. Caregivers' perception of adults with Down syndrome willingness to participate in research. Journal of Intellectual Disability Research. 2023;67:352-361. https://doi.org/10.1111/jir.12999.
36. Peters VJT, Bok LA, de Beer L, van Rooij JJM, Meijboom BR, et al. Destination unknown: Parents and healthcare professionals' perspectives on transition from paediatric to adult care in Down syndrome. Journal of Applied Research in Intellectual Disabilities. 2022;35(5):1208-1216. https://doi.org/10.1111/jar.13015
37. Peters VJT, de Winter JP. Integrated care for children living with complex care needs: Navigating the long and winding road. European Journal of Pediatrics. 2023. https://doi.org/10.1007/s00431-023-04892-7
38. Tobia V, Brigstocke S, Hulme C, Snowling MJ. Developmental changes in the cognitive and educational profiles of children and adolescents with 22q11.2 deletion syndrome. Journal of Applied Research in Intellectual Disabilities. 2018;31:e177-e181. https://doi.org/10.1111/jar.12344
39. Thakur D, Martens MA, Smith DS, Roth E. Williams syndrome and music: A systematic integrative review. Frontiers in Psychology. 2018;9:2203. https://doi.org/10.3389/fpsyg.2018.02203
40. van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K, et al. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. European Journal of Medical Genetics. 2023;1769-7212. https://doi.org/10.1016/j.ejmg.2023.104747
2. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. European Journal of Human Genetics. 2021;29:402-410. https://doi.org/10.1038/s41431-020-00748-y
3. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine. 2017;19(4):439-447. https://doi.org/10.1038/gim.2016.127
4. de Graaf G, Skladzien E, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Australia and New Zealand. Genetics in Medicine. 2022;24(12);2568-2577. https://doi.org/10.1016/j.gim.2022.08.029
5. Wilmot HC, de Graaf G, van Casteren P, Buckley F, Skotko BG. Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021. European Journal of Human Genetics. 2023. https://doi.org/10.1038/s41431-023-01330-y
6. Crombag NM, Page-Christiaens GC, Skotko BG, de Graaf G. Receiving the news of Down syndrome in the era of prenatal testing. American Journal of Medical Genetics: Part A. 2020;182:374-385. https://doi.org/10.1002/ajmg.a.61438
7. de Groot-van der Mooren M, de Graaf G, Weijerman ME, Hoffer MJV, Knijnenburg J, et al. Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study. Prenatal Diagnosis. 2021;41(10):1351-1359. https://doi.org/10.1002/pd.6003
8. van den Driessen Mareeuw FA, Coppus AMW, Delnoij DMJ, de Vries E. Capturing the complexity of healthcare for people with Down syndrome in quality indicators - A Delphi study involving healthcare professionals and patient organisations. BMC Health Services Research. 2020;20(1):694. https://doi.org/10.1186/s12913-020-05492-z
9. Mulder FECM, Bok LA, van Douveren FQMP, Pruijs HEH, Zeegers AVCM. Effect of the Sharrard procedure on hip instability in children with Down syndrome: A retrospective study. Journal of Children’s Orthopaedics. 2021;15(5):488-495. https://doi.org/10.1302/1863-2548.15.210052
10. Goemans, B.F., Noort, S., Blink, M, Wang, Y, Peters, STCJ, et al. Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia. Leukemia. 2021;35:2403-2406. https://doi.org/10.1038/s41375-021-01128-1
11. van Gameren-Oosterom HBM, Weijerman ME, van Wieringen H, de Winter JP, van Wermeskerken AM. Clinical practice - Latest insights in optimizing the care of children with Down syndrome. European Journal of Pediatrics. 2023. https://doi.org/10.1007/s00431-023-04890-9
12. Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A. Sleep problems and obstructive sleep apnea in children with Down syndrome, an overview. International Journal of Pediatric Otorhinolaryngology. 2016;82:12-15. https://doi.org/10.1016/j.ijporl.2015.12.014
13. Bull MJ. Improvement of outcomes for children with Down syndrome. The Journal of Pediatrics. 2018;193:9-10. https://doi.org/10.1016/j.jpeds.2017.11.014
14. de Weger C, Boonstra N, Goossens J. Effects of bifocals on visual acuity in children with DS: A randomized controlled trial. Acta Ophthalmologica. 2019;97(4):378-393. https://doi.org/10.1111/aos.13944
15. Martin T, Smith A, Breatnach CR, Kent E, Shanahan, I, et al. Infants born with Down syndrome: Burden of disease in the early neonatal period. The Journal of Pediatrics. 2018;193:21-26. https://doi.org/10.1016/j.jpeds.2017.09.046
16. Godfrey M, Hepburn S, Fidler DJ, Tapera T, Zhang F, et al. Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only. Research in Developmental Disabilities. 2019;89:83-93. https://doi.org/10.1016/j.ridd.2019.03.003
17. Santoro JD, Filipink RA, Baumer NT, Bulova PD, Handen BL. Down syndrome regression disorder: Updates and therapeutic advances. Current Opinion in Psychiatry. 2023;36(2):96-103. https://doi.org/10.1097/YCO.0000000000000845
18. Rafii MS, Kleschevnikov AM, Sawa M, Mobley WC. Down syndrome. Handbook of Clinical Neurology. 2019;167:321-336. https://doi.org/10.1016/B978-0-12-804766-8.00017-0
19. Lorenzon N, Musoles-Lleó J, Turrisi F, Gomis-González M, De La Torre R, et al. State-of-the-art therapy for Down syndrome. Developmental Medicine and Child Neurology. 2023. https://doi.org/10.1111/dmcn.15517
20. Weijerman ME, de Winter JP. Clinical practice: The care of children with Down syndrome. European Journal of Pediatrics. 2010;169(12):1445-1452. https://doi.org/10.1007/s00431-010-1253-0
21. Bull MJ. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406. https://doi.org/10.1542/peds.2011-1605
22. Gori C, Cocchi G, Corvaglia LT, Ramacieri G, Pulina F, et al. Down Syndrome: How to communicate the diagnosis. Italian Journal of Pediatrics. 2023;49(1):18. https://doi.org/10.1186/s13052-023-01419-6
23. Fisher PG. Who should care for children with Down syndrome. The Journal of Pediatrics. 2020;218:1-4. https://doi.org/10.1016/j.jpeds.2020.01.024
24. Joslyn N, Berger H, Skotko BG. Geospatial analyses of accessibility to Down syndrome specialty care. The Journal of Pediatrics. 2020;218:146-150. https://doi.org/10.1016/j.jpeds.2019.10.058
25. Fransen L, Peters VJT, Meijboom BR, de Vries E. Modular service provision for heterogeneous patient groups: A single case study in chronic Down syndrome care. BMC Health Services Research. 2019;19(1):720. https://doi.org/10.1186/s12913-019-4545-8
26. Tenenbaum A, Kastiel Y, Meiner Z, Kerem E. Multidisciplinary care of persons with Down syndrome in Jerusalem. International Journal on Disability and Human Development. 2008;7(3):355-358. https://doi.org/10.1515/IJDHD.2008.7.3.355
27. Lee NC, Chien YH, Hwu WL. Integrated care for Down syndrome. Congenital Anomalies. 2016;6(3):104-106. https://doi.org/10.1111/cga.12159
28. Sothirasan K, Anand AJ, Chua MPW, Khoo PC, Chua MC. Clinical guideline for management of Down syndrome in Singapore. Proceedings of Singapore Healthcare. 2022;31. https://doi.org/10.1177/20101058221104582
29. Al Farsi AJN. Attitude of pediatricians toward establishing a “Down Syndrome Clinic”. World Wide Journal of Multidisciplinary Research and Development. 2023;9(3):16-26. Retrieved from https://wwjmrd.com/upload/attitude-of-pediatricians-toward-establishing-a-down-syndrome-clinic_1678948928.pdf
30. Peters VJT, Meijboom BR, Bunt JEH, Bok LA, van Steenbergen MW, et al. Providing person-centered care for patients with complex healthcare needs: A qualitative study. PLOS ONE. 2020;15(11): e0242418. https://doi.org/10.1371/journal.pone.0242418
31. Peters VJT. Multidisciplinary care for children with Down syndrome in the Netherlands: A modular perspective. Medical Research Archives. 2023;11(3):1-10. https://doi.org/10.18103/mra.v11i3.3531
32. van den Driessen Mareeuw FA, Coppus AMW, Delnoij DMJ, de Vries E. Quality of health care according to people with Down syndrome, their parents and support staff - A qualitative exploration. Journal of Applied Research in Intellectual Disabilities. 2020;33:496-514. https://doi.org/10.1111/jar.12692
33. Haddad F, Bourke J, Wong K, Leonard H. An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome. PLoS ONE. 2018;13(6):e0197394. https://doi.org/10.1371/journal.pone.0197394
34. Frankena TK, Naaldenberg J, Cardol M, Linehan C, van Schrojenstein Lantman-de Valk H. Active involvement of people with intellectual disabilities in health research - A structured literature review. Research in Developmental Disabilities. 2015;45-46:271-283. https://doi.org/10.1016/j.ridd.2015.08.004.
35. Kyprianou N, Hendrix J, Hillerstrom H, Grimm R, Kirova AM, et al. Caregivers' perception of adults with Down syndrome willingness to participate in research. Journal of Intellectual Disability Research. 2023;67:352-361. https://doi.org/10.1111/jir.12999.
36. Peters VJT, Bok LA, de Beer L, van Rooij JJM, Meijboom BR, et al. Destination unknown: Parents and healthcare professionals' perspectives on transition from paediatric to adult care in Down syndrome. Journal of Applied Research in Intellectual Disabilities. 2022;35(5):1208-1216. https://doi.org/10.1111/jar.13015
37. Peters VJT, de Winter JP. Integrated care for children living with complex care needs: Navigating the long and winding road. European Journal of Pediatrics. 2023. https://doi.org/10.1007/s00431-023-04892-7
38. Tobia V, Brigstocke S, Hulme C, Snowling MJ. Developmental changes in the cognitive and educational profiles of children and adolescents with 22q11.2 deletion syndrome. Journal of Applied Research in Intellectual Disabilities. 2018;31:e177-e181. https://doi.org/10.1111/jar.12344
39. Thakur D, Martens MA, Smith DS, Roth E. Williams syndrome and music: A systematic integrative review. Frontiers in Psychology. 2018;9:2203. https://doi.org/10.3389/fpsyg.2018.02203
40. van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K, et al. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. European Journal of Medical Genetics. 2023;1769-7212. https://doi.org/10.1016/j.ejmg.2023.104747