Adherence to adult clinical practice guidelines for Down syndrome.
Abstract
Adults with Down syndrome (DS) have unique health care needs with evidence-based care guidelines to address these. Yet, the 2020 adult guidelines were unstudied; we aimed to assess adherence to these guidelines. We reviewed clinical and demographic data from medical charts of 327 adults with DS who were seen in the MGH DSP. We calculated adherence to care guidelines and analyzed correlations between both demographic traits and clinical results. Mean adherence rate to each of the nine adult guidelines was 67.3%. Adherence rates that were below our mean adherence rate included colonoscopy (42.9%), iron (41.9%), audiology specialist (35.8%), and audiogram (35.2%). We found four significant correlations: assigned females at birth had a significantly higher body mass index (BMI) than assigned males at birth (p < 0.001), Hispanic patients had a significantly higher BMI than other patients (p = 0.015), Hispanic patients had a significantly higher rate of diabetes than other patients (p = 0.036), and Black patients had a significantly lower rate of hypothyroidism than other patients (p = 0.004). We assessed the adherence rates to adult DS guidelines and highlighted disparities in healthcare for patients with DS to inform clinicians on how to improve care for patients with DS.
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Prevalence of hypothyroidism is increased among patients with Down syndrome (31%-65%).
“Prevalence of hypothyroidism is increased among patients with Down syndrome (31%-65%) andTurnersyndrome(12.7%). 16-18”
From Hypothyroidism: A Review (2025) · cites this paper as [17]
Prevalence of hypothyroidism is increased among patients with Turner syndrome (12.7%).
“Prevalence of hypothyroidism is increased among patients with Down syndrome (31%-65%) andTurnersyndrome(12.7%). 16-18”
From Hypothyroidism: A Review (2025) · cites this paper as [17]
Cites
Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., & Conde, J. G. (2009) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2008.08.010 · Cited by 51,384 · see citing works
Screening for Colorectal Cancer
US Preventive Services Task Force, Davidson, K. W., Barry, M. J., Mangione, C. M., Cabana, M. D., Caughey, A. B., Davis, E. M., Donahue, K. E., Doubeni, C. A., Krist, A. H., et al. (2021) · JAMA · doi:10.1001/jama.2021.6238 · Cited by 2,106 · see citing works
The incidence and prevalence of thyroid autoimmunity
McLeod, D. S. A., & Cooper, D. S. (2012) · Endocrine · doi:10.1007/s12020-012-9703-2 · Cited by 613 · see citing works
Reducing Racial Inequities in Health: Using What We Already Know to Take Action
Williams, D. R., & Cooper, L. A. (2019) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph16040606 · Cited by 415 · see citing works
Health Supervision for Children and Adolescents With Down Syndrome
Bull, M. J., Trotter, T., Santoro, S. L., Christensen, C., Grout, R. W., & THE COUNCIL ON GENETICS (2022) · Pediatrics · doi:10.1542/peds.2022-057010 · Cited by 332 · see citing works
Self-citationImpaired Sensitivity to Thyroid Hormones Is Associated With Diabetes and Metabolic Syndrome
Laclaustra, M., Moreno-Franco, B., Lou-Bonafonte, J. M., Mateo-Gallego, R., Casasnovas, J. A., Guallar-Castillon, P., Cenarro, A., & Civeira, F. (2019) · Diabetes Care · doi:10.2337/dc18-1410 · Cited by 322 · see citing works
Medical Care of Adults With Down Syndrome
Tsou, A. Y., Bulova, P. D., Capone, G. T., Chicoine, B. A., Gelaro, B., Harville, T., Martin, B. A., McGuire, D. E., McKelvey, K. D., Peterson, M., et al. (2020) · JAMA · doi:10.1001/jama.2020.17024 · Cited by 214 · see citing works
Racial and ethnic disparities in heart failure: current state and future directions
Lewsey, S. C., & Breathett, K. K. (2021) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000855 · Cited by 214 · see citing works
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years
Hithersay, R., Startin, C. M., Hamburg, S., Mok, K. Y., Hardy, J., Fisher, E. M. C., Tybulewicz, V. L. J., Nizetic, D., & Strydom, A. (2019) · JAMA Neurology · doi:10.1001/jamaneurol.2018.3616 · Cited by 176 · see citing works
Bone mineral density in adults with Down syndrome
Carfì, A., Liperoti, R., Fusco, D., et al. (2017) · Osteoporosis International · doi:10.1007/s00198-017-4133-x · Cited by 80 · see citing works
Body Shape Index Is a Stronger Predictor of Diabetes
Bawadi, H. A., Abouwatfa, M., Alsaeed, S., Kerkadi, A., & Shi, Z. (2019) · Nutrients · doi:10.3390/nu11051018 · Cited by 77 · see citing works
Racial/Ethnic Inequities in Pregnancy-Related Morbidity and Mortality
Minehart, R. D., Bryant, A., Jackson, J., & Daly, J. L. (2021) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2020.11.005 · Cited by 75 · see citing works
Olmos, R. D., de Figueiredo, R. C., Aquino, E. M. L., Lotufo, P. A., & Benseñor, I. M. (2015) · Brazilian Journal of Medical and Biological Research · doi:10.1590/1414-431x20154445 · Cited by 71 · see citing works
Pharmacotherapy of Down syndrome
Palumbo, M. L., & McDougle, C. J. (2018) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2018.1529167 · Cited by 64 · see citing works
Out‐of‐pocket medical costs and third‐party healthcare costs for children with Down syndrome
Kageleiry, A., Samuelson, D., Duh, M. S., Lefèbvre, P., Campbell, J., & Skotko, B. G. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38050 · Cited by 44 · see citing works
Use of Electronic Health Record Integration for Down Syndrome Guidelines
Santoro, S. L., Bartman, T., Cua, C. L., Lemle, S., & Skotko, B. G. (2018) · PEDIATRICS · doi:10.1542/peds.2017-4119 · Cited by 38 · see citing works
Self-citationParents' perceptions of functional abilities in people with Down syndrome
de Graaf, G., Levine, S. P., Goldstein, R. D., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61004 · Cited by 37 · see citing works
An assessment of health, social, communication, and daily living skills of adults with Down syndrome
Matthews, T., Allain, D. C., Matthews, A. L., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38721 · Cited by 35 · see citing works
Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome
Santoro, S. L., Martin, L. J., Pleatman, S. I., & Hopkin, R. J. (2016) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2015.12.026 · Cited by 33 · see citing works
Self-citationSpecialty clinics for adults with Down syndrome: A clinic survey
Santoro, S. L., Campbell, A., Balasubramanian, A. B., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62169 · Cited by 27 · see citing works
Self-citationTransition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome
Santoro, S. L., Donelan, K., Haugen, K. L., Oreskovic, N. M., Torres, A., & Skotko, B. G. (2021) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31876 · Cited by 26 · see citing works
Self-citationBreast Cancer Screening for Women With Down Syndrome: Lessons Learned
Chicoine, B. A., Roth, M., Chicoine, L., et al. (2015) · Intellectual and developmental disabilities · doi:10.1352/1934-9556-53.2.91 · Cited by 24 · see citing works
Prevalence and Severity of Alzheimer Disease in Individuals With Down Syndrome
Rafii, M. S., & Santoro, S. L. (2018) · JAMA Neurology · doi:10.1001/jamaneurol.2018.3443 · Cited by 24 · see citing works
Self-citationJensen, K. M., Campagna, E. J., Juarez‐Colunga, E., et al. (2020) · American Journal of Preventive Medicine · doi:10.1016/j.amepre.2020.06.009 · Cited by 22 · see citing works
Detection of iron deficiency in children with Down syndrome
Hart, S. J., Zimmerman, K. O., Linardic, C. M., Cannon, S., Pastore, A., Patsiogiannis, V., Rossi, P., Santoro, S. L., Skotko, B. G., Torres, A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0637-4 · Cited by 21 · see citing works
Self-citationIndicators of health in Down syndrome : A virtual focus group study with patients and their parents
Santoro, S. L., Cabrera, M. J., Haugen, K. L., Krell, K., & Merker, V. L. (2023) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.13065 · Cited by 21 · see citing works
Self-citationContributions to Racial Disparity in Mortality among Children with Down Syndrome
Santoro, S. L., Esbensen, A. J., Hopkin, R. J., et al. (2016) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.03.023 · Cited by 16 · see citing works
Self-citationObesity, diabetes and their metabolic correlates in middle‐aged adults with Down syndrome
Luchsinger, J. A., Pang, D. I., Krinsky‐McHale, S. J., Schupf, N., Lee, J. H., Silverman, W. P., & Zigman, W. B. (2023) · Journal of Intellectual Disability Research · doi:10.1111/jir.13103 · Cited by 16 · see citing works
Alagöz, O., Hajjar, A., Chootipongchaivat, S., van Ravesteyn, N. T., Yeh, J. M., Ergün, M. A., de Koning, H. J., Chicoine, B. A., & Martin, B. (2019) · Journal of General Internal Medicine · doi:10.1007/s11606-019-05182-5 · Cited by 15 · see citing works
Dodd, D., Helsel, B. C., Bodde, A. E., Danon, J. C., Sherman, J. R., Donnelly, J. E., Washburn, R. A., & Ptomey, L. T. (2023) · Disability and health journal · doi:10.1016/j.dhjo.2023.101497 · Cited by 14 · see citing works
Santoro, S. L., Howe, Y. J., Krell, K., Skotko, B. G., & Co, J. P. T. (2022) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2022.10.021 · Cited by 12 · see citing works
Self-citationBody composition and Hashimoto disease
Malczyk, E., Wyka, J., & Malczyk, A. (2021) · Roczniki Państwowego Zakładu Higieny · doi:10.32394/rpzh.2021.0179 · Cited by 11 · see citing works
Santoro, S. L., Baker, S., Blake, J. M., Cabrera, M. J., Caughman, K., Chung, J. A., Cullen, S., Gallagher, M., Haugen, K. L., Hoke‐Chandler, R., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63233 · Cited by 9 · see citing works
Self-citationUsing a Communication Passport within a Multidisciplinary Genetics Clinic
Santoro, S. L., Brenner-Miller, D., Cottrell, C., et al. (2021) · Pediatric Quality and Safety · doi:10.1097/pq9.0000000000000472 · Cited by 6 · see citing works
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Alaqeel, A. A., Gómez, R., & Chalew, S. A. (2022) · Journal of Diabetes and its Complications · doi:10.1016/j.jdiacomp.2022.108229 · Cited by 6 · see citing works
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- Authors
- Wood, J. C., Gochyyev, P., & Santoro, S. L.
- Affiliations
- MGH Institute of Health Professions (US)
- Harvard University (US)
- Corresponding author
- Santoro, Stephanie L.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2024-08-29
- Volume
- 197
- Issue
- 1
- Pages
- e63850-e63850
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W4402012757
- Cited by
- 6
- References
- 35
- Citations by year
- 2026: 4 · 2025: 1 · 2024: 1
- FWCI
- 2.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Clinical practice guidelines implementation
- Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Keywords
- Down syndrome, guideline adherence, health care disparities, colonoscopy, iron supplementation, audiogram, body mass index, diabetes mellitus, hypothyroidism, sex differences, Hispanic patients, racial disparities
- MeSH terms
- Adult, Down Syndrome, Female, Humans, Male, Middle Aged, Body Mass Index, Practice Guidelines as Topic, Guideline Adherence, Young Adult
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