Abstract

Abstract
Clinical diagnosis of syndromes benefits strongly from objective facial phenotyping. This study introduces a novel approach to enhance clinical diagnosis through the development and exploration of a low-dimensional metric space referred to as the clinical face phenotypic space (CFPS). As a facial matching tool for clinical genetics, such CFPS can enhance clinical diagnosis. It helps to interpret facial dysmorphisms of a subject by placing them within the space of known dysmorphisms. In this paper, a triplet loss-based autoencoder developed by geometric deep learning (GDL) is trained using multi-task learning, which combines supervised and unsupervised learning approaches. Experiments are designed to illustrate the following properties of CFPSs that can aid clinicians in narrowing down their search space: a CFPS can 1) classify syndromes accurately, 2) generalize to novel syndromes, and 3) preserve the relatedness of genetic diseases, meaning that clusters of phenotypically similar disorders reflect functional relationships between genes. The proposed model consists of three main components: an encoder based on GDL optimizing distances between groups of individuals in the CFPS, a decoder enhancing classification by reconstructing faces, and a singular value decomposition layer maintaining orthogonality and optimal variance distribution across dimensions. This allows for the selection of an optimal number of CFPS dimensions as well as improving the classification capacity of the CFPS, which outperforms the linear metric learning baseline in both syndrome classification and generalization to novel syndromes. We further proved the usefulness of each component of the proposed framework, highlighting their individual impact. From a clinical perspective, the unique combination of these properties in a single CFPS results in a powerful tool that can be incorporated into current clinical practices to assess facial dysmorphism.

Abstract

Abstract
Obstructive sleep apnea is a heterogeneous sleep disorder with varying phenotypes. Several studies have already performed cluster analyses to discover various obstructive sleep apnea phenotypic clusters. However, the selection of the clustering method might affect the outputs. Consequently, it is unclear whether similar obstructive sleep apnea clusters can be reproduced using different clustering methods. In this study, we applied four well-known clustering methods: Agglomerative Hierarchical Clustering; K-means; Fuzzy C-means; and Gaussian Mixture Model to a population of 865 suspected obstructive sleep apnea patients. By creating five clusters with each method, we examined the effect of clustering methods on forming obstructive sleep apnea clusters and the differences in their physiological characteristics. We utilized a visualization technique to indicate the cluster formations, Cohen's kappa statistics to find the similarity and agreement between clustering methods, and performance evaluation to compare the clustering performance. As a result, two out of five clusters were distinctly different with all four methods, while three other clusters exhibited overlapping features across all methods. In terms of agreement, Fuzzy C-means and K-means had the strongest (kappa = 0.87), and Agglomerative hierarchical clustering and Gaussian Mixture Model had the weakest agreement (kappa = 0.51) between each other. The K-means showed the best clustering performance, followed by the Fuzzy C-means in most evaluation criteria. Moreover, Fuzzy C-means showed the greatest potential in handling overlapping clusters compared with other methods. In conclusion, we revealed a direct impact of clustering method selection on the formation and physiological characteristics of obstructive sleep apnea clusters. In addition, we highlighted the capability of soft clustering methods, particularly Fuzzy C-means, in the application of obstructive sleep apnea phenotyping.

Abstract

Good sleep is crucial for human life. Research has shown that poor-quality sleep is related to several cardiovascular and metabolic disorders. Sleep disorders are well categorized, and most of them have defined diagnostic criteria, with level 1 polysomnography being the gold standard. With the increasing use of technology, specifically smartphones, in people’s everyday lives, the search for alternative ways of monitoring sleep disorders or certain sleep parameters has been gaining relevance.

Abstract