Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose rising prevalence places increasing demands on a lengthy diagnostic process. Machine learning (ML) has shown promise in automating ASD diagnosis, but most existing models operate as black boxes and are typically trained on a single dataset, limiting their generalizability. In this study, we introduce a transparent and interpretable ML approach that leverages BioBERT, a state-of-the-art language model, to analyze unstructured clinical text. The model is trained to label descriptions of behaviors and map them to diagnostic criteria, which are then used to assign a final label (ASD or not). We evaluate transfer learning, the ability to transfer knowledge to new data, using two distinct real-world datasets. We trained on datasets sequentially and mixed together and compared the performance of the best models and their ability to transfer to new data. We also created a black-box approach and repeated this transfer process for comparison. Our transparent model demonstrated robust performance, with the mixed-data training strategy yielding the best results (97 % sensitivity, 98 % specificity). Sequential training across datasets led to a slight drop in performance, highlighting the importance of training data order. The black-box model performed worse (90 % sensitivity, 96 % specificity) when trained sequentially or with mixed data. Overall, our transparent approach outperformed the black-box approach. Mixing datasets during training resulted in slightly better performance and should be the preferred approach when practically possible. This work paves the way for more trustworthy, generalizable, and clinically actionable AI tools in neurodevelopmental diagnostics.

Recent developed graph-based methods for diagnosing brain disorders using functional connectivity highly rely on predefined brain atlases, but overlook the rich information embedded within atlases and the confounding effects of site and phenotype variability. To address these challenges, we propose a two-stage Brain-to-Population Graph Learning (B2P-GL) framework that integrates the semantic similarity of brain regions and condition-based population graph modeling. In the first stage, termed brain representation learning, we leverage brain atlas knowledge from GPT-4 to enrich the graph representation and refine the brain graph through an adaptive node reassignment graph attention network. In the second stage, termed population disorder diagnosis, phenotypic data is incorporated into population graph construction and feature fusion to mitigate confounding effects and enhance diagnosis performance. Experiments on the ABIDE I, ADHD-200, and Rest-meta-MDD datasets show that B2P-GL outperforms state-of-the-art methods in prediction accuracy while enhancing interpretability. Overall, our proposed framework offers a reliable and personalized approach to brain disorder diagnosis, advancing clinical applicability.

Autism Spectrum Disorder (ASD) lacks reliable biological markers, delaying early diagnosis. Using 159 salivary samples analyzed by ATR-FTIR spectroscopy, we developed GANet, a genetic algorithm-based network optimization framework leveraging PageRank and Degree for importance-based feature characterization. GANet systematically optimizes network structure to extract meaningful patterns from high-dimensional spectral data. It achieved superior performance compared to linear discriminant analysis, support vector machines, and deep learning models, reaching 0.78 accuracy, 0.61 sensitivity, 0.90 specificity, and a 0.74 harmonic mean. These results demonstrate GANet's potential as a robust, bio-inspired, non-invasive tool for precise ASD detection and broader spectral-based health applications.

Autism Spectrum Disorder (ASD) is a complex neurological condition characterized by varied developmental impairments, especially in communication and social interaction. Accurate and early diagnosis of ASD is crucial for effective intervention, which is enhanced by richer representations of brain activity. The brain functional connectome, which refers to the statistical relationships between different brain regions measured through neuroimaging, provides crucial insights into brain function. Traditional static methods often fail to capture the dynamic nature of brain activity, in contrast, dynamic brain connectome analysis provides a more comprehensive view by capturing the temporal variations in the brain. We propose BrainTWT, a novel dynamic network embedding approach that captures temporal evolution of the brain connectivity over time and considers also the dynamics between different temporal network snapshots. BrainTWT employs temporal random walks to capture dynamics across different temporal network snapshots and leverages the Transformer's ability to model long term dependencies in sequential data to learn the discriminative embeddings from these temporal sequences using temporal structure prediction tasks. The experimental evaluation, utilizing the Autism Brain Imaging Data Exchange (ABIDE) dataset, demonstrates that BrainTWT outperforms baseline methods in ASD classification.

Autism Spectrum Disorder (ASD) is a chronic neurodevelopmental disorder symptoms of which includes repetitive behaviour and lack of social and communication skills. Even though these symptoms can be seen very clearly in social but a large number of individuals with ASD remain undiagnosed. In this paper, we worked on a methodology for the detection of ASD from a 3-dimensional walking video dataset, utilizing supervised machine learning (ML) classification algorithms and nature-inspired optimization algorithms for feature extraction from the dataset. The proposed methodology involves the classification of ASD using a supervised ML classification algorithm and extracting important and relevant features from the dataset using nature-inspired optimization algorithms. We also included the ranking coefficients to find the initial leading particle. This selection of particle significantly reduces the computation time and hence, improves the total efficiency and accuracy for ASD detection. To evaluate the efficiency of the proposed methodology, we deployed various combinationsalgorithms of classification algorithm and nature-inspired algorithms resulting in an outstanding classification accuracy of $100\%$ using the random forest classification algorithm and gravitational search algorithm for feature selection. The application of the proposed methodology with different datasets would enhance the robustness and generalizability of the proposed methodology. Due to high accuracy and less total computation time, the proposed methodology will offer a significant contribution to the medical and academic fields, providing a foundation for future research and advancements in ASD diagnosis.

Autism spectrum disorder(ASD) is a pervasive developmental disorder that significantly impacts the daily functioning and social participation of individuals. Despite the abundance of research focused on supporting the clinical diagnosis of ASD, there is still a lack of systematic and comprehensive exploration in the field of methods based on Large Language Models (LLMs), particularly regarding the real-world clinical diagnostic scenarios based on Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). Therefore, we have proposed a framework called ADOS-Copilot, which strikes a balance between scoring and explanation and explored the factors that influence the performance of LLMs in this task. The experimental results indicate that our proposed framework is competitive with the diagnostic results of clinicians, with a minimum MAE of 0.4643, binary classification F1-score of 81.79\%, and ternary classification F1-score of 78.37\%. Furthermore, we have systematically elucidated the strengths and limitations of current LLMs in this task from the perspectives of ADOS-2, LLMs' capabilities, language, and model scale aiming to inspire and guide the future application of LLMs in a broader fields of mental health disorders. We hope for more research to be transferred into real clinical practice, opening a window of kindness to the world for eccentric children.

We propose a model for diagnosing Autism spectrum disorder (ASD) using multimodal magnetic resonance imaging (MRI) data. Our approach integrates brain connectivity data from diffusion tensor imaging (DTI) and functional MRI (fMRI), employing graph neural networks (GNNs) for fused graph classification. To improve diagnostic accuracy, we introduce a loss function that maximizes inter-class and minimizes intra-class margins. We also analyze network node centrality, calculating degree, subgraph, and eigenvector centralities on a bimodal fused brain graph to identify pathological regions linked to ASD. Two non-parametric tests assess the statistical significance of these centralities between ASD patients and healthy controls. Our results reveal consistency between the tests, yet the identified regions differ significantly across centralities, suggesting distinct physiological interpretations. These findings enhance our understanding of ASD's neurobiological basis and offer new directions for clinical diagnosis.

Clinical videos in the context of Autism Spectrum Disorder are often long-form interactions between children and caregivers/clinical professionals, encompassing complex verbal and non-verbal behaviors. Objective analyses of these videos could provide clinicians and researchers with nuanced insights into the behavior of children with Autism Spectrum Disorder. Manually coding these videos is a time-consuming task and requires a high level of domain expertise. Hence, the ability to capture these interactions computationally can augment the manual effort and enable supporting the diagnostic procedure. In this work, we investigate the use of foundation models across three modalities: speech, video, and text, to analyse child-focused interaction sessions. We propose a unified methodology to combine multiple modalities by using large language models as reasoning agents. We evaluate their performance on two tasks with different information granularity: activity recognition and abnormal behavior detection. We find that the proposed multimodal pipeline provides robustness to modality-specific limitations and improves performance on the clinical video analysis compared to unimodal settings.

Early diagnosis and intervention for Autism Spectrum Disorder (ASD) has been shown to significantly improve the quality of life of autistic individuals. However, diagnostics methods for ASD rely on assessments based on clinical presentation that are prone to bias and can be challenging to arrive at an early diagnosis. There is a need for objective biomarkers of ASD which can help improve diagnostic accuracy. Deep learning (DL) has achieved outstanding performance in diagnosing diseases and conditions from medical imaging data. Extensive research has been conducted on creating models that classify ASD using resting-state functional Magnetic Resonance Imaging (fMRI) data. However, existing models lack interpretability. This research aims to improve the accuracy and interpretability of ASD diagnosis by creating a DL model that can not only accurately classify ASD but also provide explainable insights into its working. The dataset used is a preprocessed version of the Autism Brain Imaging Data Exchange (ABIDE) with 884 samples. Our findings show a model that can accurately classify ASD and highlight critical brain regions differing between ASD and typical controls, with potential implications for early diagnosis and understanding of the neural basis of ASD. These findings are validated by studies in the literature that use different datasets and modalities, confirming that the model actually learned characteristics of ASD and not just the dataset. This study advances the field of explainable AI in medical imaging by providing a robust and interpretable model, thereby contributing to a future with objective and reliable ASD diagnostics.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in social communication, repetitive behavior, and sensory processing. One important research area in ASD is evaluating children's behavioral changes over time during treatment. The standard protocol with this objective is BOSCC, which involves dyadic interactions between a child and clinicians performing a pre-defined set of activities. A fundamental aspect of understanding children's behavior in these interactions is automatic speech understanding, particularly identifying who speaks and when. Conventional approaches in this area heavily rely on speech samples recorded from a spectator perspective, and there is limited research on egocentric speech modeling. In this study, we design an experiment to perform speech sampling in BOSCC interviews from an egocentric perspective using wearable sensors and explore pre-training Ego4D speech samples to enhance child-adult speaker classification in dyadic interactions. Our findings highlight the potential of egocentric speech collection and pre-training to improve speaker classification accuracy.