Development of a general purpose cognitive-behavioral symptom taxonomy

Motivation: Cognitive-behavior symptoms (CBSx) represent the surface manifestation of diverse etiology. Identification and documentation of CBSx are critical to biomedical research that targets understanding the association between the symptoms and the underlying causes including genetics, aging, injury, substance use, or infection. Seeing the lack of a semantic resource of CBSx, specifically dedicated to the symptom layer, we sought to develop a CBSx Taxonomy.

Methods: We defined CBSx as any observable abnormality or reduced capacity in certain cognitive or behavioral functionality. We also collected concepts concerning the impact of CBSx on life quality and daily activities. The taxonomy was iteratively developed by synthesizing knowledge from the literature, existing biomedical ontologies, and clinical instruments that assess CBSx in patients. The concepts were manually mapped to the Unified Medical Language System (UMLS). A domain expert in aging and neurogenerative diseases was consulted in curating the CBSx Taxonomy.

Results: The derived taxonomy contains 258 concepts that are grouped into four major branches: cognitive symptoms, psychomotor symptoms, behavioral symptoms, and impact on life. The taxonomy has been implemented into a computable format and made available to the research community.

Conclusion: By synthesizing multiple knowledge sources, we developed the CBSx Taxonomy to serve as a dedicated semantic layer for cognitive-behavioral symptoms. The taxonomy is shared publicly and is expected to benefit diverse applications including natural language processing, phenotyping, and semantic harmonization.