Neuroimaging and Brain Morphology in Autism Spectrum Disorders

Autism spectrum disorders (ASD) are associated with atypical trajectories of brain development that are detectable through non-invasive neuroimaging. Structural MRI studies have revealed early brain overgrowth in a subset of children with ASD, followed by altered patterns of cortical thinning and gyrification throughout childhood and adolescence. Variations in cortical thickness, surface area and regional volume have been reported across frontal, temporal, parietal and cerebellar regions, reflecting heterogeneity in social, communicative and motor networks. Large-scale analyses of brain asymmetry have highlighted subtle lateralisation differences in medial frontal, orbitofrontal and temporal cortices, suggesting disrupted hemispheric specialisation. Efforts to link these structural markers to behavioural outcomes, such as language proficiency or social functioning, have begun to yield predictive models that may inform early intervention. Advances in high-resolution morphometry and normative modelling have underscored the need to move beyond group averages towards individualised neuroanatomical profiles, paving the way for precision diagnostics and tailored therapeutic strategies.

Research from Nature Portfolio

Recent studies of toddlers with ASD have demonstrated that early regional alterations in cortical thickness and volume can predict language outcomes. In a cohort of over 450 longitudinal structural MRI scans, autistic toddlers exhibited enlarged temporal and fusiform regions alongside reduced inferior frontal and cerebellar volumes. These neuroanatomical differences were shown to improve prognostic accuracy for six-month language milestones, beyond clinical and demographic measures alone.

A foundational large-scale investigation of cortical asymmetry in ASD analysed nearly 3,600 individuals across multiple datasets. This work revealed diminished lateralisation of cortical thickness in medial frontal, cingulate and inferior temporal areas, as well as increased asymmetry of putamen volume. The subtleness of these effects highlights the importance of extensive cohorts to detect robust structural markers that may underlie diverse functional impairments in ASD.

Neuroimaging and Brain Morphology in Autism Spectrum Disorders publication trend

The graph below shows the total number of articles in neuroimaging and brain morphology in autism spectrum disorders across all publications each year (not limited to Nature Index journals).

Technical terms

Structural MRI: Imaging modality that provides detailed three-dimensional maps of brain anatomy by exploiting differences in water and tissue properties.

Cortical thickness: Measurement of the distance between the white-matter boundary and the pial surface, reflecting the density and organisation of cortical layers.

Cortical volume: Total volume of cortical grey matter in a specified region, combining cortical thickness and surface area metrics.

Surface area: Extent of the cortical mantle expressed in square millimetres, indicative of cortical expansion during development.

Gyrification: Degree of cortical folding, quantified by indices that compare the folded surface to its convex hull, associated with developmental and functional complexity.

References

1. Differences in regional brain structure in toddlers with autism are related to future language outcomes. Nature Communications (2024).
2. Sex differences in trajectories of cortical development in autistic children from 2–13 years of age. Molecular Psychiatry (2024).
3. Common and distinct cortical thickness alterations in youth with autism spectrum disorder and attention-deficit/hyperactivity disorder. BMC Medicine (2024).
4. Altered cerebellar lobular volumes correlate with clinical deficits in siblings and children with ASD: evidence from toddlers. Journal of Translational Medicine (2023).
5. Altered structural brain asymmetry in autism spectrum disorder in a study of 54 datasets. Nature Communications (2019).
6. Dissecting the Heterogeneous Cortical Anatomy of Autism Spectrum Disorder Using Normative Models. Biological Psychiatry Cognitive Neuroscience and Neuroimaging (2018).