Unsupervised Dimensionality Reduction Techniques for the Assessment of ASD Biomarkers

Autism Spectrum Disorder (ASD) encompasses a range of developmental disabilities marked by differences in social functioning, cognition, and behavior. Both genetic and environmental factors are known to contribute to ASD, yet the exact etiological factors remain unclear. Developing integrative models to explore the effects of gene expression on behavioral and cognitive traits attributed to ASD can uncover environmental and genetic interactions. A notable aspect of ASD research is the sex-wise diagnostic disparity: males are diagnosed more frequently than females, which suggests potential sex-specific biological influences. Investigating neuronal microstructure, particularly axonal conduction velocity offers insights into the neural basis of ASD. Developing robust models that evaluate the vast multidimensional datasets generated from genetic and microstructural processing poses significant challenges. Traditional feature selection techniques have limitations; thus, this research aims to integrate principal component analysis (PCA) with supervised machine learning algorithms to navigate the complex data space. By leveraging various neuroimaging techniques and transcriptomics data analysis methods, this methodology builds on traditional implementations of PCA to better contextualize the complex genetic and phenotypic heterogeneity linked to sex differences in ASD and pave the way for tailored interventions.