Study identifies two biologically distinct autism subtypes via brain connectivity, published in Nature Neuroscience
An autism diagnosis may cover more than one condition. Brain scans from 940 autistic children and young adults revealed two distinct subtypes: one with reduced connectivity tied to synaptic genes, the other with increased connectivity tied to immune pathways. Source: Nature Neuro
An autism diagnosis may actually describe more than one condition. An international research team has identified two biologically distinct subtypes of autism by mapping brain-imaging data against the molecular biology of animal models. The group combined functional MRI scans from 940 autistic children and young adults with data from more than 1,000 neurotypical individuals and 20 genetically engineered mouse models, then looked for connectivity patterns that lined up with specific biological pathways. Two reproducible subtypes emerged. One is marked by reduced brain connectivity, or hypoconnectivity, tied to synaptic pathways that govern how neurons communicate. The other shows increased connectivity, or hyperconnectivity, associated with immune-related systems. The distinction matters because autism has long been treated as a single spectrum, even though responses to therapy vary widely from person to person. By linking connectivity signatures to underlying biology, the researchers describe a foundation for precision-medicine approaches that aim to match interventions to a person's specific subtype rather than to a broad diagnosis. The work was coordinated by teams at the Italian Institute of Technology and the Child Mind Institute and published in the journal Nature Neuroscience. As reported by ScienceDaily and the research groups involved, it is the first systematic effort to decode human fMRI data by mapping it directly onto the molecular landscapes of animal models.