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Mamat, M.

Publications and source records attributed to Mamat, M..

2 recordsLinked to original sources

Individualized morphometric-similarity deviations in autism linked to cortical hierarchy and microarchitecture

AO_SCPLOWBSTRACTC_SCPLOWAutism spectrum disorder (ASD) is marked by profound neurobiological heterogeneity, yet it remains unclear whether atypical brain organization reflects a diffuse low-amplitude pattern shared broadly across individuals or distinct spatially specific deviations that vary from person to person. Resolving this question requires methods that move beyond group averages to map individualized cortical atypicality against normative expectations. We built subject-level morphometric similarity networks in which edges quantify multivariate morphometric similarity between cortical regions. We then applied hierarchical Bayesian regression (HBR) normative models to estimate region-wise deviations from age- and sex-adjusted norms while accounting for site variation. Individuals with ASD carried a greater burden of extreme regional deviations, yet those deviations were focal and idiosyncratic rather than uniformly distributed. The spatial pattern of deviation aligned with canonical cortical hierarchies, shifting similarity toward sensory and visual poles and away from association cortex. Moreover, edge-level testing identified a sparse reconfiguration concentrated in occipito-temporal and cross-network connections. Clustering of individual deviation maps identified two robust subgroups that differ in the global sign of deviation and in their cognitive and molecular correlates. These results show that cortical atypicality in ASD is constrained by brain gradients, expressed in subgroup-specific forms, and linked to distinct biological and cognitive axes.

neuroscience↗

Molecular architecture of the altered cortical complexity in autism

Autism Spectrum Disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and healthy controls, from the Autism Brain Imaging Data Exchange (ABIDE) I and II. Using fractal dimension (FD) as an index for quantifying cortical complexity, we identified significant regional alterations in ASD, within the left temporoparietal, left peripheral visual, right central visual, left somatomotor (including the insula), and left ventral attention networks. Partial least squares (PLS) regression analysis revealed gene sets associated with these cortical complexity changes, enriched for biological functions related to synaptic transmission, synaptic plasticity, mitochondrial dysfunction, and chromatin organization. Cell-specific analyses, protein-protein interaction (PPI) network analysis and gene temporal expression profiling further elucidated the dynamic molecular landscape associated with these alterations. These findings indicate that ASD-related alterations in cortical complexity are closely linked to specific genetic pathways. The combined analysis of neuroimaging and transcriptomic data enhances our understanding of how genetic factors contribute to brain structural changes in ASD.

neuroscience↗