Delineation of Functional Changes and Associated Cortical Transcriptomic Profiles for Autism Spectrum Disorders

Abstract

Background: Although abnormal functional activities or connectivities in individuals with autism spectrum disorders (ASD) have been reported, yet, there is still lack of consistent findings of altered functional activities or connectivities and its associated genetic basis for ASD. Methods: Here, we aimed to identify consistent brain functional alterations and the biological genetic mechanisms in children and adults with ASD using a large sample of resting-state functional magnetic resonance imaging data from the Autism Brain Image Data Exchange dataset (ABIDE). Multi-site based meta-analyses were first employed and identified abnormal brain activity, local and global functional connectivities primarily localizing in frontal-temporal-occipital regions and default mode network (DMN) in individuals with ASD. Results: The significant correlations between the aberrant brain regions and clinical phenotypes related to social functions in ASD were found. Importantly, brain-wide transcriptome-neuroimaging spatial association analyses and the follow-up enrichment, tissue-specific expression, and protein-protein interaction analyses were conducted and identified the underlying cellular and molecular mechanisms of ASD. Conclusions: Collectively, our findings link molecular and functional changes in ASD and provide new evidence for neuropathology and a potential precious treatment target for ASD.

Harmonization of multi-site functional MRI data with dual-projection based ICA model

“…Regarding the statistical results of group differences between individuals with autism spectrum disorder (ASD) and healthy controls (HC), our research identified similar brain regions that have been highlighted in previous studies. For example, in patients with ASD, increased ALFF in the Temporal Lobe and Frontal Lobe while decreased ALFF in the Occipital Lobe was also found compared to HC (Wang et al, 2023). Participants with ASD also showed increased ReHo in the Frontal Lobe and decreased ReHo in the Temporal and Frontal Lobe compared to HC (Paakki et al, 2010;Canario et al, 2021;Wang et al, 2023).…”

“…For example, in patients with ASD, increased ALFF in the Temporal Lobe and Frontal Lobe while decreased ALFF in the Occipital Lobe was also found compared to HC (Wang et al, 2023). Participants with ASD also showed increased ReHo in the Frontal Lobe and decreased ReHo in the Temporal and Frontal Lobe compared to HC (Paakki et al, 2010;Canario et al, 2021;Wang et al, 2023).…”