Search bioRxivSearch

bioRxiv · 10.1101/471169

Early Brain Imaging can Predict Autism: Application of Machine Learning to a Clinical Imaging Archive

Abstract

A comprehensive investigation of early brain alterations in Autism Spectrum Disorder (ASD) is critical for understanding the neuroanatomical underpinnings of autism and its early diagnosis. Most previous brain imaging studies in ASD, however, are based on children older than 6 years - well after the average age of ASD diagnosis (~46 months). In this study, we use brain magnetic resonance images that were collected as part of clinical routine from patients who were later diagnosed with ASD. Using 15 ASD subjects of age three to four years and 18 age-matched non-ASD subjects as controls, we perform comprehensive comparison of different brain morphometric features and ASD vs. non-ASD classification by Random Forest machine learning method. We find that, although total intracranial volume (TIV) of ASD was 5.5 % larger than in non-ASD, brain volumes of many other brain areas (as a percentage of TIV) were smaller in ASD and can be partly attributed to larger (>10 %) ventricles in ASD. The larger TIV in ASD was correlated to larger surface area and increased amount of cortical folding but not to cortical thickness. The white matter regions in ASD had less image intensity (predominantly in the frontal and temporal regions) suggesting myelination deficit. We achieved 95 % area under the ROC curve (AUC) for ASD vs. non-ASD classification using all brain features. When classification was performed separately for each feature type, image intensity yielded the highest predictive power (95 % AUC), followed by cortical folding index (69 %), cortical and subcortical volume (69 %), and surface area (68 %). The most important feature for classification was white matter intensity surrounding the rostral middle frontal gyrus and was lower in ASD (d = 0.77, p = 0.04). The high degree of classification success indicates that the application of machine learning methods on brain features holds promise for earlier identification of ASD. To our knowledge this is the first study to leverage a clinical imaging archive to investigate early brain markers in ASD.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Katuwal, G. J., Baum, S. A., Michael, A. M.. 2018-11-16. Early Brain Imaging can Predict Autism: Application of Machine Learning to a Clinical Imaging Archive. https://doi.org/10.1101/471169

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

spatialMET: an open and scalable framework for spatial metabolomics analysis

Mass spectrometry imaging (MSI) enables spatially resolved metabolomics in intact tissue sections, but analysis remains challenging at scale. Existing MSI workflows often require users to combine multiple software tools, while others rely on proprietary vendor software that limits interoperability and reproducibility. To address these challenges, we developed spatialMET, an open-source framework that provides an end-to-end workflow for MSI analysis. spatialMET provides a unified platform for preprocessing, spatial domain detection, and visualization. Downstream analyses include differential abundance testing, spatial autocorrelation and gradient analysis, dimensionality reduction, and correlation network analysis. Spatial domain detection uses hcdist, a C-based hierarchical clustering implementation that substantially reduces runtime and memory use relative to existing R-based approaches. spatialMET can be run through an interactive R Shiny application or as a standalone command-line workflow for larger datasets or high-performance computing environments. Applied to mouse small cell lung cancer MALDI-MSI data containing 284,673 pixels, spatialMET identified tumor-associated, stromal, and adjacent lung spatial domains that aligned with matched histology. Differential abundance analysis identified 117 m/z features that differed between tumor and stromal regions, while spatial autocorrelation analyses revealed spatially structured abundance patterns. Applying spatialMET to mouse lung adenocarcinoma data from an entire lung lobe containing 338,477 pixels further demonstrated scalability and captured spatial heterogeneity across tumor and surrounding lung tissue. In summary, spatialMET provides a scalable, open-source framework for end-to-end spatial metabolomics analysis, and it is distributed as a Docker container for reproducible deployment. Source code and installation instructions are available at https://github.com/biodatalab/spatialMET.

bioinformatics

Probing the transcriptome response to shivering in skeletal muscle using a multilayered bioinformatics approach

Cold acclimation holds therapeutic potential for improving metabolic health. We previously demonstrated that repeated cold-induced shivering enhances insulin sensitivity in humans. However, the molecular pathways that underlie the skeletal muscle shivering response, and how these relate to beneficial physiological effects, remain poorly understood. In this study, we combined complementary bioinformatics approaches to allow in-depth analysis of the transcriptomic response of human skeletal muscle to repeated shivering. We identified a robust transcriptional signature and show a sex-specific component in the shivering skeletal muscle response, which seemed to diminish following cold adaptation. Our findings provide mechanistic insights into cold-induced muscle adaptations, shed light on potential interesting molecular targets for further investigation, and emphasize the importance of including both sexes in future cold acclimation studies.

bioinformatics

An Information Geometry approach to model topological trajectories and Gene Expression Radius from UMAP geometry.

Understanding the relationship between gene expression dynamics and cellular identity remains a central challenge in single cell biology. Here, we introduce a novel computational and mathematical framework that integrates information geometry, fuzzy topology, and UMAP analysis to model gene expression landscapes derived from single cell RNA sequencing data. We formalize gene expression data as a fuzzy topological space, where interactions between expression points are governed by probabilistic distributions inspired by manifold learning approaches such as UMAP. Within this framework, we define an information geometric structure through a Fisher metric induced by these distributions, enabling the computation of geodesic trajectories that capture cellular differentiation processes. A key contribution of this work is the derivation of analytical conditions, expressed as expression radius formulas, that characterize local neighborhoods in gene expression space. These conditions allow for the identification of genes associated with stem cell states and predictions in transitional cell types in future work. Application of the proposed framework to single cell datasets reveals biologically meaningful gene sets enriched in key regulatory pathways and transcription factors, demonstrating the capacity of our approach to uncover latent structure in complex gene expression data. Our results suggest that integrating differential geometry with statistical learning theory offers a powerful paradigm for modeling genotype and phenotype relationships and cellular state transitions, with potential implications for precision medicine and systems biology.

bioinformatics