Volume-based analysis of 6-month-old infant brain MRI for autism biomarker identification and early diagnosis

Abstract

Autism spectrum disorder (ASD) is mainly diagnosed by the observation of core behavioral symptoms. Due to the absence of early biomarkers to detect infants either with or at-risk of ASD during the first postnatal year of life, diagnosis must rely on behavioral observations long after birth. As a result, the window of opportunity for effective intervention may have passed when the disorder is detected. Therefore, it is clinically urgent to identify imaging-based biomarkers for early diagnosis and intervention. In this paper, for the first time, we proposed a volume-based analysis of infant subjects with risk of ASD at very early age, i.e., as early as at 6 months of age. A critical part of volume-based analysis is to accurately segment 6-month-old infant brain MRI scans into different regions of interest, e.g., white matter, gray matter, and cerebrospinal fluid. This is actually very challenging since the tissue contrast at 6-month-old is extremely low, caused by inherent ongoing myelination and maturation. To address this challenge, we propose an anatomy-guided, densely-connected network for accurate tissue segmentation. Based on tissue segmentations, we further perform brain parcellation and statistical analysis to identify those significantly different regions between autistic and normal subjects. Experimental results on National Database for Autism Research (NDAR) show the advantages of our proposed method in terms of both segmentation accuracy and diagnosis accuracy over state-of-the-art results.