Profiling brain morphology for autism spectrum disorder with two cross-culture large-scale consortia.

Researchers studied brain scans from autistic people in Western countries and China to understand autism better. They found two main groups: one with generally smaller brain regions and more differences from typical brains, and another with larger brain regions but fewer differences in specific areas. Certain brain areas were important for telling these groups apart. This research helps explain why autism affects people differently and could lead to more personalized treatments.

This cross-cultural neuroimaging study used normative modeling to analyze brain morphology in autism spectrum disorder (ASD) across large datasets from Western (ABIDE) and Chinese (CABIC) populations. The research identified two distinct ASD subgroups: subgroup 'L' characterized by generally smaller brain region volumes and higher abnormality rates, and subgroup 'H' with larger volumes but less pronounced deviations in specific areas. Key brain regions including the isthmus cingulate and transverse temporal gyrus were critical for distinguishing between subgroups. In subgroup H, isthmus cingulate cortex volume correlated directly with autistic mannerisms, potentially linked to slower developmental volumetric changes.

These findings provide biological insights into ASD heterogeneity and support precision medicine approaches for autism.

Findings suggest autism heterogeneity may be reduced to identifiable brain-based subgroups, potentially enabling more targeted interventions. However, clinical utility requires validation studies linking neurological subgroups to specific therapeutic responses and functional outcomes.

Sample size not reported in abstract. Study methodology and participant characteristics unclear. Cross-sectional design limits understanding of developmental trajectories. Clinical validation of subgroups and their practical implications for intervention planning not established.

We explore neurodevelopmental heterogeneity in Autism Spectrum Disorder (ASD) through normative modeling of cross-cultural cohorts. By leveraging large-scale datasets from Autism Brain Imaging Data Exchange (ABIDE) and China Autism Brain Imaging Consortium (CABIC), our model identifies two ASD subgroups with distinct brain morphological abnormalities: subgroup "L" is characterized by generally smaller brain region volumes and higher rates of abnormality, while subgroup "H" exhibits larger volumes with less pronounced deviations in specific areas. Key areas, such as the isthmus cingulate and transverse temporal gyrus, were identified as critical for subgroup differentiation and ASD trait correlations. In subgroup H, the regional volume of the isthmus cingulate cortex showed a direct correlation with individuals' autistic mannerisms, potentially corresponding to its slower post-peak volumetric declines during development.

These findings offer insights into the biological mechanisms underlying ASD and support the advancement of subgroup-driven precision clinical practices.