Deriving and validating biomarkers associated with autism spectrum disorders from a large-scale resting-state database

Chia-Min Chen,Pinchen Yang,Tzu-Chao Chuang,Ming-Ting Wu,Teng-Yi Huang

doi:10.1038/s41598-019-45465-9

Abstract

Resting-state functional magnetic resonance imaging (MRI) has been used to investigate the brain activity related to autism spectrum disorder (ASD). In this study, we applied information from a large-scale dataset, the Autism Brain Imaging Data Exchange (ABIDE), to clinical applications. We recruited 21 patients with ASD and 23 individuals with neurotypical development (TD). We applied ASD biomarkers derived from ABIDE datasets and subsequently investigated the relationship between the MRI biomarkers and indicators from clinical screening questionnaires, the social responsiveness scale (SRS), and the Swanson, Nolan, and Pelham Questionnaire IV. The results indicated that the biomarkers generated from the default mode and executive control networks significantly differed between the participants with ASD and TD. In particular, the biomarkers derived from the default mode network were negatively correlated with the raw scores and model factors of the SRS. In summary, this study transferred the efforts of the global autism research community to clinical applications and identified connectivity-based biomarkers in ASD.

Highlights

Autism spectrum disorders (ASDs) are childhood developmental disorders characterized by dysfunction in social communication, interaction deficits, and specific behavioral characteristics with early onset[1]
A4 and A14 were both derived from the default mode network (DMN), and R9, A15, and A18 were obtained from the right frontoparietal, cerebellum, and executive control (ECN) networks, respectively
The results indicate that A4 derived from the Autism Brain Imaging Data Exchange (ABIDE) datasets was an effective indicator for classifying ASD, and the functional connectivity (FC) of brain regions in A4 masks was correlated with cognitive impairments in patients with ASD

Summary

Introduction

Autism spectrum disorders (ASDs) are childhood developmental disorders characterized by dysfunction in social communication, interaction deficits, and specific behavioral characteristics with early onset[1]. Researchers have applied a task-free medical imaging technique, resting-state functional magnetic resonance imaging (R-fMRI), to study the brain activity underlying ToM and ASD. The regions can be considered one brain network for a specific cognitive ability or mental processing task. Weng et al determined that FC strength between the posterior cingulate cortex and temporal lobe was negatively correlated with social impairment based on the Autism Diagnostic Interview-Revised (ADI-R). These studies have highlighted the potential applications of R-fMRI for investigating the complex cognitive function underlying ASD. ABIDE could allow researchers to investigate brain mechanisms underlying ASD and to identify ASD-related biomarkers through R-fMRI14.

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Results

Conclusion