Analysis of Ethnic Disparities in Autism Spectrum Disorder among Toddlers

The clinical management of autism spectrum disorder (ASD) faces a bottleneck in early screening, mainly because trained specialists are scarce and conventional assessment tools are subjective. Here, we introduce ASDchat, a multimodal large language model designed for evidence-based ASD screening, which takes video, audio, and dialogue as input. ASDchat adopts a dual-branch architecture, where the decision branch generates screening probabilities and the evidence branch generates traceable, timestamped behavioral evidence aligned with standardized clinical criteria (ADOS-2). The model was trained and evaluated on a dataset of 1,035 participants from 27 sites in China, which covered typically developing (TD) children, children with ASD, and children with other disorders. For ASD versus TD, ASDchat reached an area under the receiver operating characteristic curve (AUC) of 0.953 $\pm$ 0.021. On 9 held-out sites that were not used for training, the mean AUC was 0.932. Furthermore, unsupervised clustering of the behavioral dimensions split the ASD cases into six subtypes with different phenotypic profiles, and ASDchat suggests an intervention for each subtype. ASDchat provides a feasible path for large-scale, evidence-based early ASD screening in clinical practice.

Automated ASD screening tools remain limited by single-architecture evaluations, axis-restricted assessment, and near-exclusive focus on adult cohorts, obscuring age-specific diagnostic patterns critical for early intervention. We introduce ASD-Bench, a systematic tabular benchmark evaluating ML, deep learning, and foundation model configurations across three age cohorts (children 1-11 yr, adolescents 12-16 yr, adults 17-64 yr) on four axes: predictive performance, calibration, interpretability, and adversarial robustness. Applied to a curated v3 dataset of 4,068 AQ-10 records, our benchmark spans classical models (XGBoost, AdaBoost, Random Forest, Logistic Regression), neural networks (MLP), deep tabular transformers (TabNet, TabTransformer, FT-Transformer), and TabPFN v2. We introduce the Heuristic Aggregate Penalty (HAP): a cost-sensitive metric penalising false negatives more heavily and incorporating cross-validation variance for deployment stability. Adult classification yields high performance (10/17 models achieve perfect F1 and AUC), while adolescents present a harder task (F1 ceiling 0.837 vs. 0.915 for children). Feature hierarchies shift across cohorts: A9 (social motivation) dominates for children, A5 (pattern recognition) leads for adolescents, and adults exhibit a flatter importance profile consistent with developmental social masking. Accuracy and calibration are dissociated: AdaBoost achieves F1=1.000 on adults with ECE=0.302, confirming single-metric evaluation is insufficient for clinical AI. Cohort-specific deployment recommendations are provided. All findings should be interpreted as proof-of-concept evidence on questionnaire-derived labels rather than clinically validated diagnostic performance.

Accurate Autism Spectrum Disorder (ASD) screening for school-age children is crucial to identify cases that may have been missed earlier and to enable timely interventions supporting social, cognitive, and academic development. Current ASD screening relies on subjective assessments and 2D analysis methods that fail to capture spatial displacement patterns characteristic of ASD behaviors. In this study, a novel 3D temporal analysis framework is presented, built on top of DECA (Detailed Expression Capture and Animation), a 3D modeling framework, to extract comprehensive head pose parameters (including translational components $T_x, T_y, T_z$) and facial expressions independent of pose variations. LSTM and GRU-based temporal classifiers were trained on the extracted 3D features from video data collected from 39 participants (19 ASD, 20 TD) aged 7-12 years during Virtual Reality-Continuous Performance Test tasks. The GRU-based models demonstrated superior performance, with 3D head pose features achieving 83.9% accuracy and 3D facial features reaching 81.4% accuracy, outperforming 2D baseline approaches by 10.7% and 7.5%, respectively. Furthermore, multimodal fusion of 3D head pose and facial features with PCA-based dimensionality reduction achieved the highest accuracy of 84.6%, outperforming unimodal approaches. This work establishes a foundation for objective, automated screening tools addressing current diagnostic limitations in ASD identification for school-age populations.