Representation of child and youth participation within the Unified Medical Language System (UMLS).

PURPOSE: To examine (1) how much participation is represented in the benchmark Unified Medical Language System (UMLS) resource, and (2) to what extent that representation reflects the definition of child and youth participation and/or its related constructs per the family of Participation-Related Constructs framework. MATERIALS AND METHODS: We searched and analysed UMLS concepts related to the term "participation." Identified UMLS concepts were rated according to their representation of participation (i.e., attendance, involvement, both) as well as participation-related constructs using deductive content analysis. RESULTS: 363 UMLS concepts were identified. Of those, 68 had at least one English definition, resulting in 81 definitions that were further analysed. Results revealed 2 definitions (2/81; 3%; 2/68 UMLS concepts) representing participation "attendance" and 18 definitions (18/81; 22%; 14/68 UMLS concepts) representing participation "involvement." No UMLS concept definition represented both attendance and involvement (i.e., participation). Most of the definitions (11/20; 55%; 9/16 UMLS concepts) representing attendance or involvement also represent a participation-related construct. CONCLUSION(S): The representation of participation within the UMLS is limited and poorly aligned with the contemporary definition of child and youth participation. Expanding ontological resources to represent child and youth participation is needed to enable better data analytics that reflect contemporary paediatric rehabilitation practice.

The representation of participation within the Unified Medical Language System (UMLS) is limited and poorly aligned with the contemporary definition of child and youth participation.From a contemporary paediatric rehabilitation perspective, using the current UMLS concepts for data analytics might result in misrepresentation of child and youth participation.There is need to expand ontological resources within the UMLS to fully and exclusively represent participation dimensions (attendance and involvement) in daily life activities to enable better data analytics that reflect contemporary paediatric rehabilitation practice.

Half the picture: Word frequencies reveal racial differences in clinical documentation, but not their causes.

Clinical notes are the best record of a provider's perceptions of their patients, but their use in studying racial bias in clinical documentation has typically been limited to manual evaluation of small datasets. We investigated the use of computational methods to scale these insights to large, heterogeneous clinical text data. We found significant differences in negative emotional tone and language implying social dominance in clinical notes between Black and White patients, but identified multiple contributing factors in addition to potential provider bias, including mis-categorization of some healthcare vocabulary as emotion-related. We further found that notes for Black patients were significantly less likely to mention opioids than for White patients, potentially reflecting both inequitable access to medication and provider bias. Our analysis showed that computational tools have significant potential for studying racial bias in large clinical corpora, and identified key challenges to providing a nuanced analysis of bias in clinical documentation.

Information Extraction Framework for Disability Determination Using a Mental Functioning Use-Case.

Natural language processing (NLP) in health care enables transformation of complex narrative information into high value products such as clinical decision support and adverse event monitoring in real time via the electronic health record (EHR). However, information technologies for mental health have consistently lagged because of the complexity of measuring and modeling mental health and illness. The use of NLP to support management of mental health conditions is a viable topic that has not been explored in depth. This paper provides a framework for the advanced application of NLP methods to identify, extract, and organize information on mental health and functioning to inform the decision-making process applied to assessing mental health. We present a use-case related to work disability, guided by the disability determination process of the US Social Security Administration (SSA). From this perspective, the following questions must be addressed about each problem that leads to a disability benefits claim: When did the problem occur and how long has it existed? How severe is it? Does it affect the person's ability to work? and What is the source of the evidence about the problem? Our framework includes 4 dimensions of medical information that are central to assessing disability-temporal sequence and duration, severity, context, and information source. We describe key aspects of each dimension and promising approaches for application in mental functioning. For example, to address temporality, a complete functional timeline must be created with all relevant aspects of functioning such as intermittence, persistence, and recurrence. Severity of mental health symptoms can be successfully identified and extracted on a 4-level ordinal scale from absent to severe. Some NLP work has been reported on the extraction of context for specific cases of wheelchair use in clinical settings. We discuss the links between the task of information source assessment and work on source attribution, coreference resolution, event extraction, and rule-based methods. Gaps were identified in NLP applications that directly applied to the framework and in existing relevant annotated data sets. We highlighted NLP methods with the potential for advanced application in the field of mental functioning. Findings of this work will inform the development of instruments for supporting SSA adjudicators in their disability determination process. The 4 dimensions of medical information may have relevance for a broad array of individuals and organizations responsible for assessing mental health function and ability. Further, our framework with 4 specific dimensions presents significant opportunity for the application of NLP in the realm of mental health and functioning beyond the SSA setting, and it may support the development of robust tools and methods for decision-making related to clinical care, program implementation, and other outcomes.

Digital Scarlet Letters: Sexually Transmitted Infections in the Electronic Medical Record.

ABSTRACT: The harms of implicit bias in clinical settings are acknowledged but poorly understood and difficult to overcome. We discuss how structural components of electronic medical record (EMR) user interfaces may contribute to sex and gender-based discrimination against patients via constant, duplicative presentation of stigmatizing sexually transmitted infection (STI) data irrespective of clinical significance. Via comparison with symbolism and representative quotes in Hawthorne's 1850 novel The Scarlet Letter, we propose a metaphor to examine how EMRs function as a platform for moral judgment, which may display an indelible "scarlet letter" for pregnant patients with STI history. We consider whether current depictions of STIs in EMRs are structurally unjust and may contribute to biased treatment by directing attention to violations of hegemonic sex/gender norms regarding sexual behavior and thus triggering moral judgments of maternal fitness. We conclude with recommendations for how to address these challenges to improve ethical stewardship of sensitive sexual/reproductive health data.

A roadmap to reduce information inequities in disability with digital health and natural language processing.

People with disabilities disproportionately experience negative health outcomes. Purposeful analysis of information on all aspects of the experience of disability across individuals and populations can guide interventions to reduce health inequities in care and outcomes. Such an analysis requires more holistic information on individual function, precursors and predictors, and environmental and personal factors than is systematically collected in current practice. We identify 3 key information barriers to more equitable information: (1) a lack of information on contextual factors that affect a person's experience of function; (2) underemphasis of the patient's voice, perspective, and goals in the electronic health record; and (3) a lack of standardized locations in the electronic health record to record observations of function and context. Through analysis of rehabilitation data, we have identified ways to mitigate these barriers through the development of digital health technologies to better capture and analyze information about the experience of function. We propose 3 directions for future research on using digital health technologies, particularly natural language processing (NLP), to facilitate capturing a more holistic picture of a patient's unique experience: (1) analyzing existing information on function in free text documentation; (2) developing new NLP-driven methods to collect information on contextual factors; and (3) collecting and analyzing patient-reported descriptions of personal perceptions and goals. Multidisciplinary collaboration between rehabilitation experts and data scientists to advance these research directions will yield practical technologies to help reduce inequities and improve care for all populations.

Improving broad-coverage medical entity linking with semantic type prediction and large-scale datasets.

OBJECTIVES: Biomedical natural language processing tools are increasingly being applied for broad-coverage information extraction-extracting medical information of all types in a scientific document or a clinical note. In such broad-coverage settings, linking mentions of medical concepts to standardized vocabularies requires choosing the best candidate concepts from large inventories covering dozens of types. This study presents a novel semantic type prediction module for biomedical NLP pipelines and two automatically-constructed, large-scale datasets with broad coverage of semantic types. METHODS: We experiment with five off-the-shelf biomedical NLP toolkits on four benchmark datasets for medical information extraction from scientific literature and clinical notes. All toolkits adopt a staged approach of mention detection followed by two stages of medical entity linking: (1) generating a list of candidate concepts, and (2) picking the best concept among them. We introduce a semantic type prediction module to alleviate the problem of overgeneration of candidate concepts by filtering out irrelevant candidate concepts based on the predicted semantic type of a mention. We present MedType, a fully modular semantic type prediction model which we integrate into the existing NLP toolkits. To address the dearth of broad-coverage training data for medical information extraction, we further present WikiMed and PubMedDS, two large-scale datasets for medical entity linking. RESULTS: Semantic type filtering improves medical entity linking performance across all toolkits and datasets, often by several percentage points of F-1. Further, pretraining MedType on our novel datasets achieves state-of-the-art performance for semantic type prediction in biomedical text. CONCLUSIONS: Semantic type prediction is a key part of building accurate NLP pipelines for broad-coverage information extraction from biomedical text. We make our source code and novel datasets publicly available to foster reproducible research.

TextEssence: A Tool for Interactive Analysis of Semantic Shifts Between Corpora.

Embeddings of words and concepts capture syntactic and semantic regularities of language; however, they have seen limited use as tools to study characteristics of different corpora and how they relate to one another. We introduce TextEssence, an interactive system designed to enable comparative analysis of corpora using embeddings. TextEssence includes visual, neighbor-based, and similarity-based modes of embedding analysis in a lightweight, web-based interface. We further propose a new measure of embedding confidence based on nearest neighborhood overlap, to assist in identifying high-quality embeddings for corpus analysis. A case study on COVID-19 scientific literature illustrates the utility of the system. TextEssence can be found at https://textessence.github.io.

Translational NLP: A New Paradigm and General Principles for Natural Language Processing Research.

Natural language processing (NLP) research combines the study of universal principles, through basic science, with applied science targeting specific use cases and settings. However, the process of exchange between basic NLP and applications is often assumed to emerge naturally, resulting in many innovations going unapplied and many important questions left unstudied. We describe a new paradigm of Translational NLP, which aims to structure and facilitate the processes by which basic and applied NLP research inform one another. Translational NLP thus presents a third research paradigm, focused on understanding the challenges posed by application needs and how these challenges can drive innovation in basic science and technology design. We show that many significant advances in NLP research have emerged from the intersection of basic principles with application needs, and present a conceptual framework outlining the stakeholders and key questions in translational research. Our framework provides a roadmap for developing Translational NLP as a dedicated research area, and identifies general translational principles to facilitate exchange between basic and applied research.

Automated Coding of Under-Studied Medical Concept Domains: Linking Physical Activity Reports to the International Classification of Functioning, Disability, and Health.

Linking clinical narratives to standardized vocabularies and coding systems is a key component of unlocking the information in medical text for analysis. However, many domains of medical concepts, such as functional outcomes and social determinants of health, lack well-developed terminologies that can support effective coding of medical text. We present a framework for developing natural language processing (NLP) technologies for automated coding of medical information in under-studied domains, and demonstrate its applicability through a case study on physical mobility function. Mobility function is a component of many health measures, from post-acute care and surgical outcomes to chronic frailty and disability, and is represented as one domain of human activity in the International Classification of Functioning, Disability, and Health (ICF). However, mobility and other types of functional activity remain under-studied in the medical informatics literature, and neither the ICF nor commonly-used medical terminologies capture functional status terminology in practice. We investigated two data-driven paradigms, classification and candidate selection, to link narrative observations of mobility status to standardized ICF codes, using a dataset of clinical narratives from physical therapy encounters. Recent advances in language modeling and word embedding were used as features for established machine learning models and a novel deep learning approach, achieving a macro-averaged F-1 score of 84% on linking mobility activity reports to ICF codes. Both classification and candidate selection approaches present distinct strengths for automated coding in under-studied domains, and we highlight that the combination of (i) a small annotated data set; (ii) expert definitions of codes of interest; and (iii) a representative text corpus is sufficient to produce high-performing automated coding systems. This research has implications for continued development of language technologies to analyze functional status information, and the ongoing growth of NLP tools for a variety of specialized applications in clinical care and research.

A comprehensive study of mobility functioning information in clinical notes: Entity hierarchy, corpus annotation, and sequence labeling.

BACKGROUND: Secondary use of Electronic Health Records (EHRs) has mostly focused on health conditions (diseases and drugs). Function is an important health indicator in addition to morbidity and mortality. Nevertheless, function has been overlooked in accessing patients' health status. The World Health Organization (WHO)'s International Classification of Functioning, Disability and Health (ICF) is considered the international standard for describing and coding function and health states. We pioneer the first comprehensive analysis and identification of functioning concepts in the Mobility domain of the ICF. RESULTS: Using physical therapy notes at the National Institutes of Health's Clinical Center, we induced a hierarchical order of mobility-related entities including 5 entities types, 3 relations, 8 attributes, and 33 attribute values. Two domain experts manually curated a gold standard corpus of 14,281 nested entity mentions from 400 clinical notes. Inter-annotator agreement (IAA) of exact matching averaged 92.3 % F1-score on mention text spans, and 96.6 % Cohen's kappa on attributes assignments. A high-performance Ensemble machine learning model for named entity recognition (NER) was trained and evaluated using the gold standard corpus. Average F1-score on exact entity matching of our Ensemble method (84.90 %) outperformed popular NER methods: Conditional Random Field (80.4 %), Recurrent Neural Network (81.82 %), and Bidirectional Encoder Representations from Transformers (82.33 %). CONCLUSIONS: The results of this study show that mobility functioning information can be reliably captured from clinical notes once adequate resources are provided for sequence labeling methods. We expect that functioning concepts in other domains of the ICF can be identified in similar fashion.

Linking Free Text Documentation of Functioning and Disability to the ICF With Natural Language Processing.

Background: Invaluable information on patient functioning and the complex interactions that define it is recorded in free text portions of the Electronic Health Record (EHR). Leveraging this information to improve clinical decision-making and conduct research requires natural language processing (NLP) technologies to identify and organize the information recorded in clinical documentation. Methods: We used natural language processing methods to analyze information about patient functioning recorded in two collections of clinical documents pertaining to claims for federal disability benefits from the U.S. Social Security Administration (SSA). We grounded our analysis in the International Classification of Functioning, Disability, and Health (ICF), and used the Activities and Participation domain of the ICF to classify information about functioning in three key areas: mobility, self-care, and domestic life. After annotating functional status information in our datasets through expert clinical review, we trained machine learning-based NLP models to automatically assign ICF categories to mentions of functional activity. Results: We found that rich and diverse information on patient functioning was documented in the free text records. Annotation of 289 documents for Mobility information yielded 2,455 mentions of Mobility activities and 3,176 specific actions corresponding to 13 ICF-based categories. Annotation of 329 documents for Self-Care and Domestic Life information yielded 3,990 activity mentions and 4,665 specific actions corresponding to 16 ICF-based categories. NLP systems for automated ICF coding achieved over 80% macro-averaged F-measure on both datasets, indicating strong performance across all ICF categories used. Conclusions: Natural language processing can help to navigate the tradeoff between flexible and expressive clinical documentation of functioning and standardizable data for comparability and learning. The ICF has practical limitations for classifying functional status information in clinical documentation but presents a valuable framework for organizing the information recorded in health records about patient functioning. This study advances the development of robust, ICF-based NLP technologies to analyze information on patient functioning and has significant implications for NLP-powered analysis of functional status information in disability benefits management, clinical care, and research.

Robust Knowledge Graph Completion with Stacked Convolutions and a Student Re-Ranking Network.

Knowledge Graph (KG) completion research usually focuses on densely connected benchmark datasets that are not representative of real KGs. We curate two KG datasets that include biomedical and encyclopedic knowledge and use an existing commonsense KG dataset to explore KG completion in the more realistic setting where dense connectivity is not guaranteed. We develop a deep convolutional network that utilizes textual entity representations and demonstrate that our model outperforms recent KG completion methods in this challenging setting. We find that our model's performance improvements stem primarily from its robustness to sparsity. We then distill the knowledge from the convolutional network into a student network that re-ranks promising candidate entities. This re-ranking stage leads to further improvements in performance and demonstrates the effectiveness of entity re-ranking for KG completion.

Ambiguity in medical concept normalization: An analysis of types and coverage in electronic health record datasets.

OBJECTIVES: Normalizing mentions of medical concepts to standardized vocabularies is a fundamental component of clinical text analysis. Ambiguity-words or phrases that may refer to different concepts-has been extensively researched as part of information extraction from biomedical literature, but less is known about the types and frequency of ambiguity in clinical text. This study characterizes the distribution and distinct types of ambiguity exhibited by benchmark clinical concept normalization datasets, in order to identify directions for advancing medical concept normalization research. MATERIALS AND METHODS: We identified ambiguous strings in datasets derived from the 2 available clinical corpora for concept normalization and categorized the distinct types of ambiguity they exhibited. We then compared observed string ambiguity in the datasets with potential ambiguity in the Unified Medical Language System (UMLS) to assess how representative available datasets are of ambiguity in clinical language. RESULTS: We found that <15% of strings were ambiguous within the datasets, while over 50% were ambiguous in the UMLS, indicating only partial coverage of clinical ambiguity. The percentage of strings in common between any pair of datasets ranged from 2% to only 36%; of these, 40% were annotated with different sets of concepts, severely limiting generalization. Finally, we observed 12 distinct types of ambiguity, distributed unequally across the available datasets, reflecting diverse linguistic and medical phenomena. DISCUSSION: Existing datasets are not sufficient to cover the diversity of clinical concept ambiguity, limiting both training and evaluation of normalization methods for clinical text. Additionally, the UMLS offers important semantic information for building and evaluating normalization methods. CONCLUSIONS: Our findings identify 3 opportunities for concept normalization research, including a need for ambiguity-specific clinical datasets and leveraging the rich semantics of the UMLS in new methods and evaluation measures for normalization.

Broadening horizons: the case for capturing function and the role of health informatics in its use.

BACKGROUND: Human activity and the interaction between health conditions and activity is a critical part of understanding the overall function of individuals. The World Health Organization's International Classification of Functioning, Disability and Health (ICF) models function as all aspects of an individual's interaction with the world, including organismal concepts such as individual body structures, functions, and pathologies, as well as the outcomes of the individual's interaction with their environment, referred to as activity and participation. Function, particularly activity and participation outcomes, is an important indicator of health at both the level of an individual and the population level, as it is highly correlated with quality of life and a critical component of identifying resource needs. Since it reflects the cumulative impact of health conditions on individuals and is not disease specific, its use as a health indicator helps to address major barriers to holistic, patient-centered care that result from multiple, and often competing, disease specific interventions. While the need for better information on function has been widely endorsed, this has not translated into its routine incorporation into modern health systems. PURPOSE: We present the importance of capturing information on activity as a core component of modern health systems and identify specific steps and analytic methods that can be used to make it more available to utilize in improving patient care. We identify challenges in the use of activity and participation information, such as a lack of consistent documentation and diversity of data specificity and representation across providers, health systems, and national surveys. We describe how activity and participation information can be more effectively captured, and how health informatics methodologies, including natural language processing (NLP), can enable automatically locating, extracting, and organizing this information on a large scale, supporting standardization and utilization with minimal additional provider burden. We examine the analytic requirements and potential challenges of capturing this information with informatics, and describe how data-driven techniques can combine with common standards and documentation practices to make activity and participation information standardized and accessible for improving patient care. RECOMMENDATIONS: We recommend four specific actions to improve the capture and analysis of activity and participation information throughout the continuum of care: (1) make activity and participation annotation standards and datasets available to the broader research community; (2) define common research problems in automatically processing activity and participation information; (3) develop robust, machine-readable ontologies for function that describe the components of activity and participation information and their relationships; and (4) establish standards for how and when to document activity and participation status during clinical encounters. We further provide specific short-term goals to make significant progress in each of these areas within a reasonable time frame.

HARE: a Flexible Highlighting Annotator for Ranking and Exploration.

Exploration and analysis of potential data sources is a significant challenge in the application of NLP techniques to novel information domains. We describe HARE, a system for highlighting relevant information in document collections to support ranking and triage, which provides tools for post-processing and qualitative analysis for model development and tuning. We apply HARE to the use case of narrative descriptions of mobility information in clinical data, and demonstrate its utility in comparing candidate embedding features. We provide a web-based interface for annotation visualization and document ranking, with a modular backend to support interoperability with existing annotation tools.