Movement disorders ontology for clinically oriented and clinicians-driven data mining of multi-center cohorts in Parkinson’s disease

Abstract

AbstractParkinsonian disorders, including Parkinson’s disease (PD) and atypical parkinsonian disorders (APD), are characterized by shared clinical features of parkinsonism and although there are distinct clinical and pathological diagnostic criterion for PD and APD, patients present in the clinic with overlapping clinical features, which evolve with a great deal of variability and complexity over time. This leads to high level of uncertainty in the prediction of diagnosis and progression for an individual patient on clinical grounds. There have been recent initiatives to make available large-scale datasets from multiple research studies such as Accelerating Medicines Partnership for Parkinson’s Disease (AMP PD). However, these is a clear lack of a common terminological system or ontology that can support query analysis of datasets in AMP PD and map across multiple instruments used in the assessment of PD as well as APD. To address these challenges, we developed the Movement Disorder Ontology (MDO) that used a systematic analysis of movement disorder instruments, extensive review of literature led by a movement disorder specialists, and the AMP PD knowledge portal with an iterative ontology engineering process. The current version of MDO is focused on parkinsonian disorders with 203 concepts modeled in three broad categories of: (1) neurological findings, (2) treatment plans, and (3) instruments used to evaluate various traits of PD. MDO holds potential for use in clinical research especially in the context of large-scale phenotypic data available in public repositories such AMP PD with support for concept-based data analysis and potentially correlating with genotypic data.