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In this two\u2010part study, electronic medical records (EMRs) were leveraged to examine co\u2010occurring health conditions among individuals with DS (Study 1) and to investigate health conditions linked to surgical intervention among DS cases with CHD (Study 2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>De\u2010identified EMRs were acquired from Vanderbilt University Medical Center and facilitated creating a cohort of <jats:italic>N<\/jats:italic>\u00a0=\u00a02282 DS cases (55% females), along with comparison groups for each study. In Study 1, DS cases were one\u2010by\u2010two sex and age matched with samples of case\u2013controls and of individuals with <jats:italic>other<\/jats:italic> intellectual and developmental difficulties (IDDs). The phenome\u2010disease association study (PheDAS) strategy was employed to reveal co\u2010occurring health conditions in DS versus comparison groups, which were then ranked for how often they are discussed in relation to DS using the PubMed database and <jats:italic>Novelty Finding Index<\/jats:italic>. In Study 2, a subset of DS individuals with CHD [<jats:italic>N<\/jats:italic>\u00a0=\u00a01098 (48%)] were identified to create longitudinal data for <jats:italic>N<\/jats:italic>\u00a0=\u00a0204 cases with surgical intervention (19%) versus 204 case\u2013controls. Data were included in predictive models and assessed which model\u2010based health conditions, when more prevalent, would increase the likelihood of surgical intervention.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In Study 1, relative to case\u2013controls and those with <jats:italic>other<\/jats:italic> IDDs, co\u2010occurring health conditions among individuals with DS were confirmed to include heart failure, pulmonary heart disease, atrioventricular block, heart transplant\/surgery and primary pulmonary hypertension (circulatory); hypothyroidism (endocrine\/metabolic); and speech and language disorder and Alzheimer's disease (neurological\/mental). Findings also revealed more versus less prevalent co\u2010occurring health conditions in individuals with DS when comparing with those with <jats:italic>other<\/jats:italic> IDDs. Findings with high <jats:italic>Novelty Finding Index<\/jats:italic> were abnormal electrocardiogram, non\u2010rheumatic aortic valve disorders and heart failure (circulatory); acid\u2013base balance disorder (endocrine\/metabolism); and abnormal blood chemistry (symptoms). In Study 2, the predictive models revealed that among individuals with DS and CHD, presence of health conditions such as congestive heart failure (circulatory), valvular heart disease and cardiac shunt (congenital), and pleural effusion and pulmonary collapse (respiratory) were associated with increased likelihood of surgical intervention.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Research efforts using EMRs and rigorous statistical methods could shed light on the complexity in health profile among individuals with DS and other IDDs and motivate precision\u2010care development.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.13124","type":"journal-article","created":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T05:36:07Z","timestamp":1706852167000},"page":"491-511","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records"],"prefix":"10.1111","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0240-133X","authenticated-orcid":false,"given":"T. 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