Abstract:Facial dysmorphologies have emerged as potential critical indicators in the diagnosis and prognosis of genetic, psychotic and rare disorders. While in certain conditions these dysmorphologies are severe, in other cases may be subtle and not perceivable to the human eye, requiring precise quantitative tools for their identification. Manual coding of facial dysmorphologies is a burdensome task and is subject to inter- and intra-observer variability. To overcome this gap, we present BioFace3D as a fully automatic tool for the calculation of facial biomarkers using facial models reconstructed from magnetic resonance images. The tool is divided into three automatic modules for the extraction of 3D facial models from magnetic resonance images, the registration of homologous 3D landmarks encoding facial morphology, and the calculation of facial biomarkers from anatomical landmarks coordinates using geometric morphometrics techniques.
Abstract:Major depressive disorder (MDD) is a complex psychiatric disorder that affects the lives of hundreds of millions of individuals around the globe. Even today, researchers debate if morphological alterations in the brain are linked to MDD, likely due to the heterogeneity of this disorder. The application of deep learning tools to neuroimaging data, capable of capturing complex non-linear patterns, has the potential to provide diagnostic and predictive biomarkers for MDD. However, previous attempts to demarcate MDD patients and healthy controls (HC) based on segmented cortical features via linear machine learning approaches have reported low accuracies. In this study, we used globally representative data from the ENIGMA-MDD working group containing an extensive sample of people with MDD (N=2,772) and HC (N=4,240), which allows a comprehensive analysis with generalizable results. Based on the hypothesis that integration of vertex-wise cortical features can improve classification performance, we evaluated the classification of a DenseNet and a Support Vector Machine (SVM), with the expectation that the former would outperform the latter. As we analyzed a multi-site sample, we additionally applied the ComBat harmonization tool to remove potential nuisance effects of site. We found that both classifiers exhibited close to chance performance (balanced accuracy DenseNet: 51%; SVM: 53%), when estimated on unseen sites. Slightly higher classification performance (balanced accuracy DenseNet: 58%; SVM: 55%) was found when the cross-validation folds contained subjects from all sites, indicating site effect. In conclusion, the integration of vertex-wise morphometric features and the use of the non-linear classifier did not lead to the differentiability between MDD and HC. Our results support the notion that MDD classification on this combination of features and classifiers is unfeasible.