An international team of neuroscientists has identified two distinct biological subtypes of autism, marking a significant shift from the traditional "spectrum" model toward precision medicine. Published in Nature Neuroscience, the study utilizes cross-species analysis to validate findings across both human and murine models.
The research team, led by Alessandro Gozzi of the Italian Institute of Technology and Adriana Di Martino of the Child Mind Institute, analyzed brain connectivity patterns in 940 autistic individuals, 1,036 neurotypical controls, and mice with 20 different autism-like genetic models. This robust dataset allowed researchers to isolate specific genetic and immune factors driving neurological differences.
Two primary subtypes emerged from the data. The first, termed "hypoconnectivity," is characterized by reduced brain connectivity linked to synaptic gene variations. The second, "hyperconnectivity," features increased brain connectivity associated with immune system genes and correlates with slightly more severe clinical presentations.
Approximately one in four participants fit clearly into these categories. The mouse models served as a biological "Rosetta Stone," enabling scientists to trace connectivity signatures back to specific molecular pathways. This translational framework offers a direct route to developing targeted therapies, moving away from one-size-fits-all interventions.
While previous studies categorized autism using behavioral traits, this approach grounds classification in observable biology. The researchers have made their database openly available to accelerate further stratification and drug development efforts.