A large study combining human brain imaging with data from genetically engineered mouse models has identified two recurring patterns of brain connectivity in autism—one marked by higher-than-typical connectivity and another marked by lower connectivity—each tied to different biological pathways, researchers report.
An international research team coordinated by the Istituto Italiano di Tecnologia (IIT) in Rovereto, Italy, and the Child Mind Institute in New York analyzed functional MRI data from 940 children and young adults diagnosed with autism and compared them with scans from 1,036 neurotypical individuals. Using evidence from 20 genetically engineered mouse models as a biological reference, the researchers reported two reproducible connectivity patterns in the human data: a hypoconnectivity subtype, marked by reduced communication between brain regions, and a hyperconnectivity subtype, marked by increased communication. In analyses linking these patterns to molecular pathways, the hypoconnectivity subtype was associated with enrichment for synaptic-related processes, while the hyperconnectivity subtype showed enrichment for immune-related pathways. In the aggregated human dataset, the two subtypes together accounted for about a quarter of the autism cases examined (25.1%), with 74 individuals assigned to the hypoconnectivity subtype and 162 to the hyperconnectivity subtype. >
