bioRxiv Science⌕ Search

Biology subjects

Moore, C. D.

Publications and source records attributed to Moore, C. D..

2 recordsLinked to original sources

ASD-FER: An Annotated Multi-Class Benchmark and Comparative Study for Facial Emotion Recognition in Children with Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) affects social interaction and communication, and automatically recognizing emotions from the facial expressions of children with ASD remains challenging. A key barrier to facial emotion recognition (FER) in children with ASD is the absence of ASD-specific datasets with proper emotion-level annotations. To address this, we present ASD-FER, a benchmark of 2,779 facial images of children with ASD annotated across six emotion categories by three independent annotators using majority voting. We evaluate nine models -- CNN, SVM, AlexNet, ResNet34, ResNet50, MobileNetV2, and three backbone configurations of our proposed task-specific architecture, EQFormer: ViT, Swin-T, and a compact Hybrid CNN-Transformer (HybridT) -- under stratified 10-fold cross-validation and a held-out 90/10 evaluation. ResNet50 led conventional models at 84.89% mean cross-validation accuracy; among transformer-based models, ViT led with 88.27%, followed by Swin-T at 88.02% and HybridT at 86.58%. On the held-out set, ViT achieved the highest overall accuracy (91.01%), while Swin-T obtained the best balanced accuracy (74.47%) and macro-F1 (0.7078); HybridT remained competitive at 89.57% accuracy with a fraction of the parameters. To support explainability, Grad-CAM visualizations highlighted attention on emotion-relevant facial regions -- eyes, eyebrows, and mouth -- with Swin-T the most spatially focused and the HybridT the most parameter-efficient (2.66M). Class imbalance and cross-dataset generalization remain open challenges.

neuroscience↗

Parkinson-associated SNCA enhancer variants revealed by open chromatin in mouse dopamine neurons

The progressive loss of midbrain (MB) dopaminergic (DA) neurons defines the motor features of Parkinson disease (PD) and modulation of risk by common variation in PD has been well established through GWAS. Anticipating that a fraction of PD-associated genetic variation mediates their effects within this neuronal population, we acquired open chromatin signatures of purified embryonic mouse MB DA neurons. Correlation with >2,300 putative enhancers assayed in mice reveals enrichment for MB cis-regulatory elements (CRE), data reinforced by transgenic analyses of six additional sequences in zebrafish and mice. One CRE, within intron 4 of the familial PD gene SNCA, directs reporter expression in catecholaminergic neurons of transgenic mice and zebrafish. Sequencing of this CRE in 986 PD patients and 992 controls reveals two common variants associated with elevated PD risk. To assess potential mechanisms of action, we screened >20,000 DNA interacting proteins and identify a subset whose binding is impacted by these enhancer variants. Additional genotyping across the SNCA locus identifies a single PD-associated haplotype, containing the minor alleles of both of the aforementioned PD-risk variants. Our work posits a model for how common variation at SNCA may modulate PD risk and highlights the value of cell context-dependent guided searches for functional non-coding variation.

genetics↗