High angular resolution diffusion imaging in a child with autism spectrum disorder and comparison with his unaffected identical twin.

In recent years, the use of brain diffusion MRI has led to the hypothesis that children with autism spectrum disorder (ASD) show abnormally connected brains. We used the model of disease-discordant identical twins to test the hypothesis that higher-order diffusion MRI protocols are able to detect abnormal connectivity in a single subject. We studied the structural connectivity of the brain of a child with ASD, and of that of his unaffected identical twin, using high angular resolution diffusion imaging (HARDI) probabilistic tractography. Cortical regions were automatically parcellated from high-resolution structural images, and HARDI-based connection matrices were produced for statistical comparison. Differences in diffusion indexes between subjects were tested by Wilcoxon signed rank test. Tracts were defined as discordant when they showed a between-subject difference of 10 percent or more. Around 11 percent of the discordant intra-hemispheric tracts showed lower fractional anisotropy (FA) values in the ASD twin, while only 1 percent showed higher values. This difference was significant. Our findings in a disease-discordant identical twin pair confirm previous literature consistently reporting lower FA values in children with ASD.