Background: Normal voice production depends on the synchronized cooperation of multiple physiological systems, which makes the voice sensitive to changes. Any systematic, neurological, and aerodigestive distortion is prone to affect voice production through reduced cognitive, pulmonary, and muscular functionality. This sensitivity inspired using voice as a biomarker to examine disorders that affect the voice. Technological improvements and emerging machine learning (ML) technologies have enabled possibilities of extracting digital vocal features from the voice for automated diagnosis and monitoring systems. Objective: This study aims to summarize a comprehensive view of research on voice-affecting disorders that uses ML techniques for diagnosis and monitoring through voice samples where systematic conditions, nonlaryngeal aerodigestive disorders, and neurological disorders are specifically of interest. Methods: This systematic literature review (SLR) investigated the state of the art of voice-based diagnostic and monitoring systems with ML technologies, targeting voice-affecting disorders without direct relation to the voice box from the point of view of applied health technology. Through a comprehensive search string, studies published from 2012 to 2022 from the databases Scopus, PubMed, and Web of Science were scanned and collected for assessment. To minimize bias, retrieval of the relevant references in other studies in the field was ensured, and 2 authors assessed the collected studies. Low-quality studies were removed through a quality assessment and relevant data were extracted through summary tables for analysis. The articles were checked for similarities between author groups to prevent cumulative redundancy bias during the screening process, where only 1 article was included from the same author group. Results: In the analysis of the 145 included studies, support vector machines were the most utilized ML technique (51/145, 35.2%), with the most studied disease being Parkinson disease (PD; reported in 87/145, 60%, studies). After 2017, 16 additional voice-affecting disorders were examined, in contrast to the 3 investigated previously. Furthermore, an upsurge in the use of artificial neural network-based architectures was observed after 2017. Almost half of the included studies were published in last 2 years (2021 and 2022). A broad interest from many countries was observed. Notably, nearly one-half (n=75) of the studies relied on 10 distinct data sets, and 11/145 (7.6%) used demographic data as an input for ML models. Conclusions: This SLR revealed considerable interest across multiple countries in using ML techniques for diagnosing and monitoring voice-affecting disorders, with PD being the most studied disorder. However, the review identified several gaps, including limited and unbalanced data set usage in studies, and a focus on diagnostic test rather than disorder-specific monitoring. Despite the limitations of being constrained by only peer-reviewed publications written in English, the SLR provides valuable insights into the current state of research on ML-based voice-affecting disorder diagnosis and monitoring and highlighting areas to address in future research. © 2023 Journal of Medical Internet Research. All rights reserved.

Background

Chronic obstructive pulmonary disease (COPD) is a severe condition affecting millions worldwide, leading to numerous annual deaths. The absence of significant symptoms in its early stages promotes high underdiagnosis rates for the affected people. Besides pulmonary function failure, another harmful problem of COPD is the systematical effects, e.g., heart failure or voice distortion. However, the systematic effects of COPD might provide valuable information for early detection. In other words, symptoms caused by systematic effects could be helpful to detect the condition in its early stages.

Objective

The proposed study aims to explore whether the voice features extracted from the vowel “a” utterance carry any information that can be predictive of COPD by employing Machine Learning (ML) on a newly collected voice dataset.

Methods

Forty-eight participants were recruited from the pool of research clinic visitors at Blekinge Institute of Technology (BTH) in Sweden between January 2022 and May 2023. A dataset consisting of 1246 recordings from 48 participants was gathered. The collection of voice recordings containing the vowel “a” utterance commenced following an information and consent meeting with each participant using the VoiceDiagnostic application. The collected voice data was subjected to silence segment removal, feature extraction of baseline acoustic features, and Mel Frequency Cepstrum Coefficients (MFCC). Sociodemographic data was also collected from the participants. Three ML models were investigated for the binary classification of COPD and healthy controls: Random Forest (RF), Support Vector Machine (SVM), and CatBoost (CB). A nested k-fold cross-validation approach was employed. Additionally, the hyperparameters were optimized using grid-search on each ML model. For best performance assessment, accuracy, F1-score, precision, and recall metrics were computed. Afterward, we further examined the best classifier by utilizing the Area Under the Curve (AUC), Average Precision (AP), and SHapley Additive exPlanations (SHAP) feature-importance measures.

Results

The classifiers RF, SVM, and CB achieved a maximum accuracy of 77 %, 69 %, and 78 % on the test set and 93 %, 78 % and 97 % on the validation set, respectively. The CB classifier outperformed RF and SVM. After further investigation of the best-performing classifier, CB demonstrated the highest performance, producing an AUC of 82 % and AP of 76 %. In addition to age and gender, the mean values of baseline acoustic and MFCC features demonstrate high importance and deterministic characteristics for classification performance in both test and validation sets, though in varied order.

Conclusion

This study concludes that the utterance of vowel “a” recordings contain information that can be captured by the CatBoost classifier with high accuracy for the classification of COPD. Additionally, baseline acoustic and MFCC features, in conjunction with age and gender information, can be employed for classification purposes and benefit healthcare for decision support in COPD diagnosis.