Temporal trends of multiple sclerosis disease activity: Electronic health records indicators.
Ontology highlight
ABSTRACT: Background
Long-term data on multiple sclerosis (MS) inflammatory disease activity are limited. We examined electronic health records (EHR) indicators of disease activity in people with MS.Methods
We analyzed prospectively collected research registry data and linked EHR data in a clinic-based cohort from 2000 to 2016. We used the trend of the yearly incident relapse rate from the registry data as benchmark. We then calculated the temporal trends of potentially relevant EHR measures, including mean count of the MS diagnostic code, mentions of MS-related concepts, MS-related health utilizations and selected prescriptions.Results
1,555 MS patients had both registry and EHR data. Between 2000 and 2016, the registry data showed a declining trend in the yearly incident relapse rate, parallel to an increasing trend of DMT usage. Among the EHR measures, covariate-adjusted frequency of diagnostic code of MS, procedure codes of MS-related imaging studies and emergency room visits, and electronic prescription for steroids declined over time, mirroring the temporal trend of the benchmark yearly incident relapse rate.Conclusion
This study highlights EHR indicators of MS relapse that could enable large-scale examination of long-term disease activities or inform individual patient monitoring in clinical settings where EHR data are available.
SUBMITTER: Liang L
PROVIDER: S-EPMC8849591 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Publications
Temporal trends of multiple sclerosis disease activity: Electronic health records indicators.
Liang Liang L Kim Nicole N Hou Jue J Cai Tianrun T Dahal Kumar K Lin Chen C Finan Sean S Savovoa Guergana G Rosso Mattia M Polgar-Tucsanyi Mariann M Weiner Howard H Chitnis Tanuja T Cai Tianxi T Xia Zongqi Z
Multiple sclerosis and related disorders 20211024
<h4>Background</h4>Long-term data on multiple sclerosis (MS) inflammatory disease activity are limited. We examined electronic health records (EHR) indicators of disease activity in people with MS.<h4>Methods</h4>We analyzed prospectively collected research registry data and linked EHR data in a clinic-based cohort from 2000 to 2016. We used the trend of the yearly incident relapse rate from the registry data as benchmark. We then calculated the temporal trends of potentially relevant EHR measur ...[more]
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Project description:ObjectiveNo relapse risk prediction tool is currently available to guide treatment selection for multiple sclerosis (MS). Leveraging electronic health record (EHR) data readily available at the point of care, we developed a clinical tool for predicting MS relapse risk.MethodsUsing data from a clinic-based research registry and linked EHR system between 2006 and 2016, we developed models predicting relapse events from the registry in a training set (n = 1435) and tested the model performance in an independent validation set of MS patients (n = 186). This iterative process identified prior 1-year relapse history as a key predictor of future relapse but ascertaining relapse history through the labor-intensive chart review is impractical. We pursued two-stage algorithm development: (1) L1 -regularized logistic regression (LASSO) to phenotype past 1-year relapse status from contemporaneous EHR data, (2) LASSO to predict future 1-year relapse risk using imputed prior 1-year relapse status and other algorithm-selected features.ResultsThe final model, comprising age, disease duration, and imputed prior 1-year relapse history, achieved a predictive AUC and F score of 0.707 and 0.307, respectively. The performance was significantly better than the baseline model (age, sex, race/ethnicity, and disease duration) and noninferior to a model containing actual prior 1-year relapse history. The predicted risk probability declined with disease duration and age.ConclusionOur novel machine-learning algorithm predicts 1-year MS relapse with accuracy comparable to other clinical prediction tools and has applicability at the point of care. This EHR-based two-stage approach of outcome prediction may have application to neurological disease beyond MS.
| S-EPMC8045951 | biostudies-literature
Project description:ObjectiveTo optimally leverage the scalability and unique features of the electronic health records (EHR) for research that would ultimately improve patient care, we need to accurately identify patients and extract clinically meaningful measures. Using multiple sclerosis (MS) as a proof of principle, we showcased how to leverage routinely collected EHR data to identify patients with a complex neurological disorder and derive an important surrogate measure of disease severity heretofore only available in research settings.MethodsIn a cross-sectional observational study, 5,495 MS patients were identified from the EHR systems of two major referral hospitals using an algorithm that includes codified and narrative information extracted using natural language processing. In the subset of patients who receive neurological care at a MS Center where disease measures have been collected, we used routinely collected EHR data to extract two aggregate indicators of MS severity of clinical relevance multiple sclerosis severity score (MSSS) and brain parenchymal fraction (BPF, a measure of whole brain volume).ResultsThe EHR algorithm that identifies MS patients has an area under the curve of 0.958, 83% sensitivity, 92% positive predictive value, and 89% negative predictive value when a 95% specificity threshold is used. The correlation between EHR-derived and true MSSS has a mean R(2) = 0.38±0.05, and that between EHR-derived and true BPF has a mean R(2) = 0.22±0.08. To illustrate its clinical relevance, derived MSSS captures the expected difference in disease severity between relapsing-remitting and progressive MS patients after adjusting for sex, age of symptom onset and disease duration (p = 1.56×10(-12)).ConclusionIncorporation of sophisticated codified and narrative EHR data accurately identifies MS patients and provides estimation of a well-accepted indicator of MS severity that is widely used in research settings but not part of the routine medical records. Similar approaches could be applied to other complex neurological disorders.
| S-EPMC3823928 | biostudies-literature
Project description:ObjectivesEpilepsy is associated with advanced multiple sclerosis (MS). We aimed to investigate whether the incidence of epilepsy in MS has been affected by the introduction of disease-modifying treatments (DMT) for MS.Materials and methodsThis retrospective study included 14,557 patients from the Swedish MS register with MS onset between 1991 and 2018. Incident diagnoses of epilepsy or any seizure were identified through cross-linkage with the National Patient Register. Next, yearly prevalence of epilepsy as well as 5- and 10 years incidence of epilepsy or any seizure for consecutive years of MS onset were estimated, the latter with Kaplan-Meier analysis. Cox regression was used to adjust the association between the year of MS onset and incidence of epilepsy for baseline variables.ResultsPrevalence of epilepsy in the MS cohort increased from 0.34% in 1991 to 2.54% in 2018 (yearly odds: 1.26 [1.22, 1.29]). The 5 years incidence rate of epilepsy, ranging from 0.4% (95% CI 0.008-0.79%) to 1.3% (95% CI 0.71-1.89%), and the 10 years incidence rate of epilepsy, ranging from 1.1% (95% CI 0.31-1.88%) to 2.6% (95% CI 1.22-3.97%) showed no significant trends (p = .147 and p = .418, respectively). Similarly, no significant trends were found for the incidences of any seizure. The incidence trends of epilepsy remained not significant after adjusting for sex, MS onset type (relapsing or progressive onset), or age at MS onset.ConclusionsOur findings do not support the hypothesis that the introduction of novel DMT for MS has reduced the incidence of epilepsy among MS patients.
| S-EPMC9795966 | biostudies-literature
Project description:BackgroundElectronic health records (EHRs) data provide an opportunity to collect patient information rapidly, efficiently and at scale. National collaborative research networks, such as PEDSnet, aggregate EHRs data across institutions, enabling rapid identification of pediatric disease cohorts and generating new knowledge for medical conditions. To date, aggregation of EHR data has had limited applications in advancing our understanding of mental health (MH) conditions, in part due to the limited research in clinical informatics, necessary for the translation of EHR data to child mental health research.MethodsIn this cohort study, a comprehensive EHR-based typology was developed by an interdisciplinary team, with expertise in informatics and child and adolescent psychiatry, to query aggregated, standardized EHR data for the full spectrum of MH conditions (disorders/symptoms and exposure to adverse childhood experiences (ACEs), across 13 years (2010-2023), from 9 PEDSnet centers. Patients with and without MH disorders/symptoms (without ACEs), were compared by age, gender, race/ethnicity, insurance, and chronic physical conditions. Patients with ACEs alone were compared with those that also had MH disorders/symptoms. Prevalence estimates for patients with 1+ disorder/symptoms and for specific disorders/symptoms and exposure to ACEs were calculated, as well as risk for developing MH disorder/symptoms.ResultsThe EHR study data set included 7,852,081 patients < 21 years of age, of which 52.1% were male. Of this group, 1,552,726 (19.8%), without exposure to ACEs, had a lifetime MH disorders/symptoms, 56.5% being male. Annual prevalence estimates of MH disorders/symptoms (without exposure to ACEs) rose from 10.6% to 2010 to 15.1% in 2023, a 44% relative increase, peaking to 15.4% in 2019, prior to the Covid-19 pandemic. MH categories with the largest increases between 2010 and 2023 were exposure to ACEs (1.7, 95% CI 1.6-1.8), anxiety disorders (2.8, 95% CI 2.8-2.9), eating/feeding disorders (2.1, 95% CI 2.1-2.2), gender dysphoria/sexual dysfunction (43.6, 95% CI 35.8-53.0), and intentional self-harm/suicidality (3.3, 95% CI 3.2-3.5). White youths had the highest rates in most categories, except for disruptive behavior disorders, elimination disorders, psychotic disorders, and standalone symptoms which Black youths had higher rates. Median age of detection was 8.1 years (IQR 3.5-13.5) with all standalone symptoms recorded earlier than the corresponding MH disorder categories.ConclusionsThese results support EHRs' capability in capturing the full spectrum of MH disorders/symptoms and exposure to ACEs, identifying the proportion of patients and groups at risk, and detecting trends throughout a 13-year period that included the Covid-19 pandemic. Standardized EHR data, which capture MH conditions is critical for health systems to examine past and current trends for future surveillance. Our publicly available EHR-mental health typology codes can be used in other studies to further advance research in this area.
| S-EPMC10503059 | biostudies-literature
Project description:Deep learning-based predictive models, leveraging Electronic Health Records (EHR), are receiving increasing attention in healthcare. An effective representation of a patient's EHR should hierarchically encompass both the temporal relationships between historical visits and medical events, and the inherent structural information within these elements. Existing patient representation methods can be roughly categorized into sequential representation and graphical representation. The sequential representation methods focus only on the temporal relationships among longitudinal visits. On the other hand, the graphical representation approaches, while adept at extracting the graph-structured relationships between various medical events, fall short in effectively integrate temporal information. To capture both types of information, we model a patient's EHR as a novel temporal heterogeneous graph. This graph includes historical visits nodes and medical events nodes. It propagates structured information from medical event nodes to visit nodes and utilizes time-aware visit nodes to capture changes in the patient's health status. Furthermore, we introduce a novel temporal graph transformer (TRANS) that integrates temporal edge features, global positional encoding, and local structural encoding into heterogeneous graph convolution, capturing both temporal and structural information. We validate the effectiveness of TRANS through extensive experiments on three real-world datasets. The results show that our proposed approach achieves state-of-the-art performance.
| S-EPMC11446542 | biostudies-literature
Project description:Temporal variability in health-care processes or protocols is intrinsic to medicine. Such variability can potentially introduce dataset shifts, a data quality issue when reusing electronic health records (EHRs) for secondary purposes. Temporal data-set shifts can present as trends, as well as abrupt or seasonal changes in the statistical distributions of data over time. The latter are particularly complicated to address in multimodal and highly coded data. These changes, if not delineated, can harm population and data-driven research, such as machine learning. Given that biomedical research repositories are increasingly being populated with large sets of historical data from EHRs, there is a need for specific software methods to help delineate temporal data-set shifts to ensure reliable data reuse. EHRtemporalVariability is an open-source R package and Shiny app designed to explore and identify temporal data-set shifts. EHRtemporalVariability estimates the statistical distributions of coded and numerical data over time; projects their temporal evolution through non-parametric information geometric temporal plots; and enables the exploration of changes in variables through data temporal heat maps. We demonstrate the capability of EHRtemporalVariability to delineate data-set shifts in three impact case studies, one of which is available for reproducibility. EHRtemporalVariability enables the exploration and identification of data-set shifts, contributing to the broad examination and repurposing of large, longitudinal data sets. Our goal is to help ensure reliable data reuse for a wide range of biomedical data users. EHRtemporalVariability is designed for technical users who are programmatically utilizing the R package, as well as users who are not familiar with programming via the Shiny user interface.Availability: https://github.com/hms-dbmi/EHRtemporalVariability/Reproducible vignette: https://cran.r-project.org/web/packages/EHRtemporalVariability/vignettes/EHRtemporalVariability.htmlOnline demo: http://ehrtemporalvariability.upv.es/.
| S-EPMC7391413 | biostudies-literature
Project description:ObjectiveEarly identification of chronic diseases is a pillar of precision medicine as it can lead to improved outcomes, reduction of disease burden, and lower healthcare costs. Predictions of a patient's health trajectory have been improved through the application of machine learning approaches to electronic health records (EHRs). However, these methods have traditionally relied on "black box" algorithms that can process large amounts of data but are unable to incorporate domain knowledge, thus limiting their predictive and explanatory power. Here, we present a method for incorporating domain knowledge into clinical classifications by embedding individual patient data into a biomedical knowledge graph.Materials and methodsA modified version of the Page rank algorithm was implemented to embed millions of deidentified EHRs into a biomedical knowledge graph (SPOKE). This resulted in high-dimensional, knowledge-guided patient health signatures (ie, SPOKEsigs) that were subsequently used as features in a random forest environment to classify patients at risk of developing a chronic disease.ResultsOur model predicted disease status of 5752 subjects 3 years before being diagnosed with multiple sclerosis (MS) (AUC = 0.83). SPOKEsigs outperformed predictions using EHRs alone, and the biological drivers of the classifiers provided insight into the underpinnings of prodromal MS.ConclusionUsing data from EHR as input, SPOKEsigs describe patients at both the clinical and biological levels. We provide a clinical use case for detecting MS up to 5 years prior to their documented diagnosis in the clinic and illustrate the biological features that distinguish the prodromal MS state.
| S-EPMC8800523 | biostudies-literature
Project description:ObjectivesThe clinical course of multiple sclerosis (MS) is highly variable, and research data collection is costly and time consuming. We evaluated natural language processing techniques applied to electronic medical records (EMR) to identify MS patients and the key clinical traits of their disease course.Materials and methodsWe used four algorithms based on ICD-9 codes, text keywords, and medications to identify individuals with MS from a de-identified, research version of the EMR at Vanderbilt University. Using a training dataset of the records of 899 individuals, algorithms were constructed to identify and extract detailed information regarding the clinical course of MS from the text of the medical records, including clinical subtype, presence of oligoclonal bands, year of diagnosis, year and origin of first symptom, Expanded Disability Status Scale (EDSS) scores, timed 25-foot walk scores, and MS medications. Algorithms were evaluated on a test set validated by two independent reviewers.ResultsWe identified 5789 individuals with MS. For all clinical traits extracted, precision was at least 87% and specificity was greater than 80%. Recall values for clinical subtype, EDSS scores, and timed 25-foot walk scores were greater than 80%.Discussion and conclusionThis collection of clinical data represents one of the largest databases of detailed, clinical traits available for research on MS. This work demonstrates that detailed clinical information is recorded in the EMR and can be extracted for research purposes with high reliability.
| S-EPMC3861927 | biostudies-literature
Project description:BackgroundThe aging population has led to an increase in cognitive impairment (CI) resulting in significant costs to patients, their families, and society. A research endeavor on a large cohort to better understand the frequency and severity of CI is urgent to respond to the health needs of this population. However, little is known about temporal trends of patient health functions (i.e., activity of daily living [ADL]) and how these trends are associated with the onset of CI in elderly patients. Also, the use of a rich source of clinical free text in electronic health records (EHRs) to facilitate CI research has not been well explored. The aim of this study is to characterize and better understand early signals of elderly patient CI by examining temporal trends of patient ADL and analyzing topics of patient medical conditions in clinical free text using topic models.MethodsThe study cohort consists of physician-diagnosed CI patients (n = 1,435) and cognitively unimpaired (CU) patients (n = 1,435) matched by age and sex, selected from patients 65 years of age or older at the time of enrollment in the Mayo Clinic Biobank. A corpus analysis was performed to examine the basic statistics of event types and practice settings where the physician first diagnosed CI. We analyzed the distribution of ADL in three different age groups over time before the development of CI. Furthermore, we applied three different topic modeling approaches on clinical free text to examine how patients' medical conditions change over time when they were close to CI diagnosis.ResultsThe trajectories of ADL deterioration became steeper in CI patients than CU patients approximately 1 to 1.5 year(s) before the actual physician diagnosis of CI. The topic modeling showed that the topic terms were mostly correlated and captured the underlying semantics relevant to CI when approaching to CI diagnosis.ConclusionsThere exist notable differences in temporal trends of basic and instrumental ADL between CI and CU patients. The trajectories of certain individual ADL, such as bathing and responsibility of own medication, were closely associated with CI development. The topic terms obtained by topic modeling methods from clinical free text have a potential to show how CI patients' conditions evolve and reveal overlooked conditions when they close to CI diagnosis.
| S-EPMC6686236 | biostudies-literature
Project description:BackgroundIn order to retrieve useful information from scientific literature and electronic medical records (EMR) we developed an ontology specific for Multiple Sclerosis (MS).MethodsThe MS Ontology was created using scientific literature and expert review under the Protégé OWL environment. We developed a dictionary with semantic synonyms and translations to different languages for mining EMR. The MS Ontology was integrated with other ontologies and dictionaries (diseases/comorbidities, gene/protein, pathways, drug) into the text-mining tool SCAIView. We analyzed the EMRs from 624 patients with MS using the MS ontology dictionary in order to identify drug usage and comorbidities in MS. Testing competency questions and functional evaluation using F statistics further validated the usefulness of MS ontology.ResultsValidation of the lexicalized ontology by means of named entity recognition-based methods showed an adequate performance (F score = 0.73). The MS Ontology retrieved 80% of the genes associated with MS from scientific abstracts and identified additional pathways targeted by approved disease-modifying drugs (e.g. apoptosis pathways associated with mitoxantrone, rituximab and fingolimod). The analysis of the EMR from patients with MS identified current usage of disease modifying drugs and symptomatic therapy as well as comorbidities, which are in agreement with recent reports.ConclusionThe MS Ontology provides a semantic framework that is able to automatically extract information from both scientific literature and EMR from patients with MS, revealing new pathogenesis insights as well as new clinical information.
| S-EPMC4321837 | biostudies-literature