Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019
Year: 2024
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Mosaic Down syndrome is a triplication of chromosome 21 in some but not all cells. Little is known about the epidemiology of mosaic Down syndrome. We described prevalence of mosaic Down syndrome and the co-occurrence of common chronic conditions in 94,533 Medicaid enrolled adults with any Down syndrome enrolled from 2016 to 2019. METHODS: We identified mosaic Down syndrome using the International Classification of Diseases and Related Health Problems, tenth edition code for mosaic Down syndrome and compared to those with nonmosaic Down syndrome codes. We identified chronic conditions using established algorithms and compared prevalence by mosaicism. RESULTS: In total, 1966 (2.08%) had claims for mosaic Down syndrome. Mosaicism did not differ by sex or race/ethnicity with similar age distributions. Individuals with mosaicism were more likely to present with autism (13.9% vs. 9.6%) and attention deficit hyperactivity disorder (17.7% vs. 14.0%) compared to individuals without mosaicism. In total, 22.3% of those with mosaic Down syndrome and 21.5% of those without mosaicism had claims for Alzheimer's dementia (Prevalence difference: 0.8; 95% Confidence interval: -1.0, 2.8). The mosaic group had 1.19 times the hazard of Alzheimer's dementia compared to the nonmosaic group (95% CI: 1.0, 1.3). DISCUSSION: Mosaicism may be associated with a higher susceptibility to certain neurodevelopmental and neurodegenerative conditions, including Alzheimer's dementia. Our findings challenge previous assumptions about its protective effects in Down syndrome. Further research is necessary to explore these associations in greater depth.
DOI: 10.1002/ajmg.c.32097
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funders: Eli Lilly and Company, Biogen, European Commission, Generalitat de Catalunya, Fundación Tatiana Pérez de Guzmán el Bueno, H. Lundbeck A/S, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, National Institutes of Health, Centers for Medicare and Medicaid Services, Horizon 2020 Framework Programme, Instituto de Salud Carlos III, National Institute on Aging
Awards: G1178615512, G1428335294, G1838929904, G1970163327, The Role of Inflammation and NGF Dysfunction in the Evolution of AlzheimerDisease Pathology in Down syndrome, La estructura cerebral y el metabolismo en la enfermedad de Alzheimer preclínica. Interacciones entre nuevos y viejos biomarcadores, G3012247180, G3342877126, G3559709381, Caracterización de la inflamación relacionada con amiloide: nuevos marcadores inflamatorios y su impacto en la macroestructural y microestructura cortical en la enfermedad de Alzheimer preclínica y prodrómica, G434337789, G4937468798, G6049260834, Estudios longitudinales de RM magnética estructural, de difusión y funcional en la enfermedad de Alzheimer preclínica esporádica y asociada al síndrome de Down, G6555716666, Tau pathology in Down syndrome and Alzheimer's, Down Syndrome: Toward Optimal Trajectories and Health Equity using Medicaid Analytic eXtract (DS -TO-THE-MAX), Biological Correlates of Alzheimer in Down Syndrome., G8824911526, G8858395165, G968800864
OpenAlex ID: W4400007425