Aug 2026· International Journal of Biology and Life Sciences· Vol 16, pp. 183-194· 0 citations· 39 references
TL;DR
The identified gene signature showed improved classification accuracy, and its enriched biological functions provided insights into ASD-related molecular mechanisms, suggesting potential value for future ASD-related genomic research and non-invasive diagnostic exploration.
Abstract
Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition in childhood and adolescence. However, its heterogeneous genetic mechanisms make early diagnosis particularly challenging. Identifying robust molecular biomarkers from high-dimensional gene expression data remains a critical bottleneck. In this study, we proposed the Multi-pack cooperative grey wolf optimization (MPC-GWO) algorithm to select robust gene biomarkers for ASD using two public blood-based transcriptomic datasets (GSE25507 for training, GSE18123 for independent testing). MPC-GWO was applied to GSE25507 to identify the minimal gene subset that reliably discriminated ASD from controls. The selected biomarker genes were then evaluated on GSE18123 to test cross-dataset generalizability. After statistical preselection and MPC-GWO refinement, we identified a 24-gene signature that achieved superior classification performance on the discovery cohort (accuracy=0.808, AUC=0.823), outperforming both the all-features baseline (accuracy=0.713) and filter-based t-test selection (accuracy=0.678). Compared with LASSO (accuracy=0.732, AUC=0.756) and Random Forest (accuracy=0.678, AUC=0.737), MPC-GWO demonstrated superior classification performance. The algorithm reduced the feature set by >88% and converged within 50 iterations. On the independent cohort, the signature achieved accuracy=0.674 and AUC=0.733. Functional enrichment analysis revealed that the selected genes are strongly associated with nervous system development, Ig-like C2-type, neurodevelopmental disorders, and extracellular space, most of which have been repeatedly implicated in ASD. These results demonstrate that MPC-GWO is effective for ASD biomarker discovery. The identified gene signature showed improved classification accuracy, and its enriched biological functions provided insights into ASD-related molecular mechanisms, suggesting potential value for future ASD-related genomic research and non-invasive diagnostic exploration.
This work aims to inform new ways of modelling ASD using a VAE that will be able to discern between a continuum or a clustered output and that go beyond binary diagnosis, instead reflecting the complex range of trait profiles, with implications for personalised diagnosis and intervention.
H. Quigley, B. Gardiner, L. McDaid et al.· medRxiv· 0 citations
An explainable multi-model ASD classification Framework that consist of questionnaire based screening, augmentation analysis, rule based interpretation, explainable artificial intelligence, and rs-fMRI based neuroimaging classification is presented.
Introduction Autism spectrum disorders (ASD) have a global prevalence of 1%, with a male-to- female diagnosis ratio of roughly 4:1. Several models have been developed to predict ASD using genetic information. However, the influence of biological sex on prediction outcomes remains underexplored. Methods We present an en...
Catriona Miller, T. Portlock, D. Nyaga et al.· Frontiers in Genetics· 0 citations
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictor...
A. Maruani, Emma Delclaud, Paul Bruzeau et al.· Autism Research· 0 citations
The early identification of autism spectrum disorder (ASD) is essential for enhancing the developmental process, but the existing conventional approaches, including machine learning, are usually marred by the problem of subjectivity, cultural biases, lack of scalability, and the inability to process tabular questionnai...
ABSTRACT Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent difficulties in social communication, social interaction, and repetitive behaviors. Early and accurate diagnosis is essential but is often hindered by subjective clinical assessments, limited data availability,...
Sahar Alkhaibari, Feng Dong· Health Care Science· 0 citations
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