Abstract

Abstract Introduction/Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder resulting in challenges with social communication, sensory differences, and repetitive and restricted patterns of behavior. ASD affects approximately 1 in 66 children in North America, with boys being affected four times more frequently than girls. Currently, diagnosis is made primarily based on clinical features and no robust biomarker for ASD diagnosis has been identified. Potential image-based biomarkers to aid ASD diagnosis may include structural properties of deep gray matter regions in the brain. Objectives The primary objective of this work was to investigate if children with ASD show micro- and macrostructural alterations in deep gray matter structures compared to neurotypical children, and if these biomarkers can be used for an automatic ASD classification using deep learning. Design/Methods Quantitative apparent diffusion coefficient (ADC) magnetic resonance imaging data was obtained from 23 boys with ASD ages 0.8 – 19.6 years (mean 7.6 years) and 39 neurotypical boys ages 0.3 – 17.75 years (mean 7.6 years). An atlas-based method was used for volumetric analysis and extraction of median ADC values for each subject within the cerebral cortex, hippocampus, thalamus, caudate, putamen, globus pallidus, amygdala, and nucleus accumbens. The extracted quantitative regional volumetric and median ADC values were then used for the development and evaluation of an automatic classification method using an artificial neural network. Results The classification model was evaluated using 10-fold cross validation resulting in an overall accuracy of 76%, which is considerably better than chance level (62%). Specifically, 33 neurotypical boys were correctly classified, whereas 6 neurotypical boys were incorrectly classified. For the ASD group, 14 boys were correctly classified, while 9 boys were incorrectly classified. This translates to a precision of 70% for the children with ASD and 79% for neurotypical boys. Conclusion To the best of our knowledge, this is the first method to classify children with ASD using micro- and macrostructural properties of deep gray matter structures in the brain. The first results of the proposed deep learning method to identify children with ASD using image-based biomarkers are promising and could serve as the platform to create a more accurate and robust deep learning model for clinical application.

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