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Smith–Magenis syndrome (SMS) is a rare, underdiagnosed condition due to limited public awareness of genetic testing and a lengthy diagnostic process. Voice analysis can be a noninvasive tool for monitoring and detecting SMS. In this paper, the cepstral peak prominence and mel-frequency cepstral coefficients are used as disease monitoring and detection metrics. In addition, an efficient neural network, incorporating synthetic data processes, was used to detect SMS in a cohort of individuals with the disease. Three study cases were conducted with a set of 19 SMS patients and 292 controls. The three study cases employed various oversampling and undersampling techniques, including SMOTE, random oversampling, NearMiss, random undersampling, and 16 additional methods, resulting in balanced accuracies ranging from 69% to 92%. This is the first study using a neural network model to focus on a rare genetic syndrome using phonation analysis data. By using synthetic data (oversampling and undersampling) and a CNN, it was possible to detect SMS with high levels of accuracy. Voice analysis and deep learning techniques have proven to be a useful and noninvasive method. This is a finding that may help in the complex identification of this syndrome as well as other rare diseases.

This research work introduces a novel, nonintrusive method for the automatic identification of Smith–Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data “windowing” technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith–Magenis syndrome.

Pathological voice characterization has received increasing attention over the last 20 years. Hundreds of studies have been published showing inventive approaches with very promising findings. Nevertheless, methodological issues might hamper performance assessment trustworthiness. This study reviews some critical aspects regarding data collection and processing, machine learning-oriented methods, and grounding analytical approaches, with a view to embedding developed clinical decision support tools into the diagnosis decision-making process. A set of 26 relevant studies published since 2010 was selected through critical selection criteria and evaluated. The model-driven (MD) or data-driven (DD) character of the selected approaches is deeply examined considering novelty, originality, statistical robustness, trustworthiness, and clinical relevance. It has been found that before 2020 most of the works examined were more aligned with MD approaches, whereas over the last two years a balanced proportion of DD and MD-based studies was found. A total of 15 studies presented MD characters, whereas seven were mainly DD-oriented, and four shared both profiles. Fifteen studies showed exploratory or prospective advanced statistical analysis. Eighteen included some statistical validation to avail claims. Twenty-two reported original work, whereas the remaining four were systematic reviews of others’ work. Clinical relevance and acceptability by voice specialists were found in 14 out of the 26 works commented on. Methodological issues such as detection and classification performance, training and generalization capability, explainability, preservation of semantic load, clinical acceptance, robustness, and development expenses have been identified as major issues in applying machine learning to clinical support systems. Other important aspects to be taken into consideration are trustworthiness, gender-balance issues, and statistical relevance.