Biology subjects

Vandewouw, M.

Publications and source records attributed to Vandewouw, M..

4 recordsLinked to original sources

bioRxiv2026

Mapping the genetic architecture of human cortical expansion and its links to neuropsychiatric disorders

Cortical expansion is a defining feature of human evolution and neurodevelopment, involving the tangential growth and gyrification of the cerebral cortex. Although disruptions to the expansion of the cortex are implicated in diverse brain-based disorders, the genetic architecture underlying this process remains undercharacterized. Here, we integrated GWAS data for five neuroanatomical phenotypes measured in up to 73,800 individuals to model a latent genomic factor capturing the shared genetic basis of cortical surface area, folding, curvature, gyrification, and intracranial volume. Using a multivariate framework, we mapped this pleiotropic architecture across biological scales, identifying novel effector genes, neural cell types, and developmental pathways involved in cortical expansion. Functional genomic evidence indicated that a diverse cellular ensemble contributes to the tangential growth and gyrification of the cortex during prenatal neurodevelopment, with progenitor cell lineages prominently involved. Regional analyses further revealed that genetic influences are spatially heterogeneous and organized along canonical anatomical, functional, and developmental gradients. Finally, cortical expansion exhibited substantial genetic overlap with neurodevelopmental, psychiatric, and neurological disorders, with shared genetic influences often concentrated in prefrontal cortical regions. Together, these findings map the genetic architecture of human cortical expansion and implicate it as a common etiological axis linking evolution, neurodevelopment, and health and disease.

genomics↗

bioRxiv2025

Functional organization of multisensory integration network in children and youth with neurodevelopmental disorders predicts clinical sensory issues

Differences in sensory processing in neurodevelopmental conditions, including Autism Spectrum Disorder (ASD) and Attention-deficit/Hyperactivity Disorder (ADHD), cascade into downstream clinical symptomatology. This includes differences in combining sensory information from multiple modalities into a unified percept, known as multisensory integration. Little is known about the functional organization of multisensory network (MSN) in these groups, its relation to clinical sensory issues, or its interaction with other higher-order cortical networks. We examined resting-state fMRI data from 417 participants in the Province of Ontario Neurodevelopmental Network (ASD=174, ADHD=130, Typical Development=113; Mean age=11.96{+/-}4.10). Timeseries data were extracted from the MSN and seven additional resting-state cortical networks (RSNs). Undirected and directed functional connectivity (FC) metrics were computed within the MSN and between the MSN and other RSNs. FC was compared across diagnoses and related to clinical sensory characteristics. The thalamus emerged as a hub region in both undirected and directed FC within the MSN and between the MSN-RSNs. Some diagnosis-related differences were observed, with increased MSN-RSN FC particularly in ADHD; however, associations with sensory characteristics were stronger in both undirected and directed FC within the MSN and between the MSN-RSNs, regardless of diagnosis. Converging evidence was seen in data-driven clusters based on FC metrics, which did not align with diagnosis, but instead mapped on to the overall level of sensory issues reported. That the data-driven clusters sorted not by diagnosis but by sensory characteristics suggests that these sensory characteristics and their underlying neurobiology are transdiagnostic in nature as opposed to specific to ASD or ADHD.

neuroscience↗

bioRxiv2025

Decoding the neural basis of sensory phenotypes in Autism

BackgroundDifferences in sensory processing are a defining characteristic of autism, affecting up to 87% of autistic individuals. These differences cause widespread perceptual changes that can negatively impact cognition, development, and daily functioning. Recent research identified five sensory processing phenotypes with varied behavioural presentations; however, their neural basis remains unclear. This study aims to ground these sensory phenotypes in unique patterns of functional connectivity. MethodsWe analyzed data from 146 autistic participants in the Province of Ontario Neurodevelopmental Network. We classified participants into sensory phenotypes using k-means clustering of scores from the Short Sensory Profile. We then computed a connectivity matrix from 200 cortical and 32 subcortical regions and calculated graph-theoretic measures (betweenness centrality, strength, local efficiency, clustering coefficient) to assess information exchange between these regions. We then trained machine learning models to use these measures to classify between all pairs of sensory phenotypes. ResultsWe replicated that our sample of autistic participants was best categorized into five sensory phenotypes. The machine learning models distinguished 7/10 phenotype pairs using graph-theoretic measures (p < 0.005). Information exchange within and between the somatomotor network, orbitofrontal cortex, posterior parietal cortex, prefrontal cortex and subcortical areas were highly predictive of sensory phenotype. ConclusionsThis study shows that distinct sensory phenotypes in autism correspond with unique patterns of functional connectivity. Cortical, subcortical, and network-level connectivity all play a role in shaping distinct sensory processing styles in autism. These findings lay the groundwork for understanding these phenotypes and highlight opportunities to develop interventions in cases of maladaptive sensory processing.

neuroscience↗

bioRxiv2019

Early life maturation of human visual system white matter is altered by monocular enucleation

Monocular enucleation early in life and the resultant lack of binocular visual input during visual development results in functional and structural brain changes in adulthood, including alterations in white matter microstructure. However, the time courses of these neurodevelopmental changes are unknown. Here, we investigated whether structural brain changes were present at 8 to 12 years of age in a group of children with a history of monocular enucleation prior to 3 years of age (the ME group) relative to control participants with normal binocular vision (the BC group). Structural connectivity was measured using diffusion tensor imaging (DTI). Relative to the BC group, the ME group exhibited significantly increased radial and mean diffusivity in the optic radiation contralateral to the enucleated eye, the bidirectional interhemispheric V1 to V1 tracts and the V1 to MT tract ipsilateral to the enucleated eye. These changes indicate abnormal myelinization and reduced axonal density in subcortical and cortical visual pathway white matter structures following unilateral enucleation and loss of binocular vision. Our findings are broadly consistent with those recently reported for older uniocular individuals suggesting that these effects are present in childhood and persist into adulthood.

neuroscience↗