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Little is known about the epidemiology of mosaic Down syndrome. We described prevalence of mosaic Down syndrome and the co\u2010occurrence of common chronic conditions in 94,533 Medicaid enrolled adults with any Down syndrome enrolled from 2016 to 2019.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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: \u22121.0, 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).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.c.32097","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T06:53:27Z","timestamp":1719298407000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Occurrence of mosaic Down syndrome and prevalence of co\u2010occurring conditions in Medicaid enrolled adults, 2016\u20132019"],"prefix":"10.1002","volume":"196","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9146-4497","authenticated-orcid":false,"given":"Eric","family":"Rubenstein","sequence":"first","affiliation":[{"name":"Department of Epidemiology Boston University School of Public Health  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salina","family":"Tewolde","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Boston University School of Public Health  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5232-9882","authenticated-orcid":false,"given":"Brian G.","family":"Skotko","sequence":"additional","affiliation":[{"name":"Down Syndrome Program, Division of Medical Genetics Massachusetts General Hospital  Boston Massachusetts USA"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Michals","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Boston University School of Public Health  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Fortea","sequence":"additional","affiliation":[{"name":"Sant Pau Memory Unit, Department of Neurology Hospital de la Santa Creu Sant Pau, Biomedical Research Institute Sant Pau  Barcelona Spain"},{"name":"Barcelona Down Medical Center Fundaci\u00f3 Catalana S\u00edndrome de Down  Barcelona Spain"},{"name":"Instituto de Investigaci\u00f3n \u2010 Hospital de la Santa Cruz y San Pablo Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas (CIBERNED)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/1073274818789355"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-020-04797-6"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.7819.1"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12010015"},{"key":"e_1_2_9_6_1","volume-title":"CMS chronic conditions data warehouse (CCW), CCW chronic condition reference list","author":"Center for Medicare and Medicaid Services","year":"2021"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2000.00246.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.127"},{"issue":"1","key":"e_1_2_9_9_1","first-page":"4","article-title":"Accuracy of the clinical diagnosis of Down syndrome","volume":"73","author":"Devlin L.","year":"2004","journal-title":"The Ulster Medical Journal"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00245-3"},{"issue":"1","key":"e_1_2_9_11_1","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook E. 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