Participants with autism exhibit distinct patterns of brain development compared to neurotypical participants, particularly in sensorimotor regions, with some of these differences linked to genes involved in synaptic transmission and sensory processing, according to a recent study.
Researchers examined coordinated brain maturation patterns in participants with autism compared to neurotypical participants, focusing on molecular and genomic mechanisms underlying these differences. The longitudinal case-control study included 386 participants from the EU-AIMS Longitudinal European Autism Project (LEAP) and 146 participants from the BrainMapASD cohort.
The study identified spatial patterns of maturational differences in cortical thickness and surface area, especially in sensorimotor regions. The LEAP cohort included 214 participants with autism (mean [SD] age, 17.3 [5.4] years; 72% male) and 172 neurotypical participants (mean [SD] age, 16.35 [5.7] years; 62.8% male). The BrainMapASD cohort consisted of 49 participants with autism (mean [SD] age, 14.31 [2.4] years; 85.7% male) and 97 neurotypical participants (mean [SD] age, 14.10 [2.5] years; 59.8% male).
Key findings, published in October 2024 in JAMA Psychiatry, demonstrated that differences in cortical thickness and surface area between the groups were primarily influenced by sensorimotor regions. For example, the early visual cortex had absolute loadings ranging from 0.07 to 0.11, whereas the dorsolateral prefrontal cortex showed smaller loadings, between 0.005 to 0.06. Neurodevelopmental variations were enriched for genes expressed across different developmental stages and cell types, particularly those involved in synaptic transmission (odds ratio, 3.7; P = 2.6 × 10⁻¹⁰).
Participants with more neurotypical brain maturation patterns were found to have fewer social challenges and more typical sensory processing (Pearson r ≥ 0.17; false discovery rate, P < .05). The findings were also replicated in the BrainMapASD cohort, supporting the validity of the results across independent samples.
These findings suggest that understanding brain maturation patterns could inform future research into the neurobiological aspects of autism-related traits and potentially other neurodevelopmental conditions.
Full disclosures can be found in the published study.