Written By: N. Lothungbeni Humtsoe | Published : June 15, 2026 3:03 PM IST
Autism. (Image: AI Generated)
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition in which people are affected in varied ways. Some may have quite severe communication and behavioural problems whereas others may have less severe symptoms. A new study has now provided evidence that autism could be at least two genetically different biological 'subtypes' with each type associated with a distinct pattern of communication in the brain.
The results published in the journal Nature Neuroscience were led by researchers from the Italian Institute of Technology and the Child Mind Institute with contributions from the University of Trento. Researchers obtained brain scan data from 940 children and young adults with autism and compared them with scans of over 1,000 children and young adults who are neurotypical.
They also analysed functional brain connectivity in 20 different mouse models and found two stable subtypes of autism. One group had decreased communication between brain regions called 'hypoconnectivity' and the other group had increased communication between brain regions called 'hyperconnectivity'.
According to the study showed hypoconnectivity subtype was associated with pathways in the brain's synapses which are the connections between brain cells. The hyperconnectivity subtype on the other hand was linked to immune related biological systems. Together these two groups represented approximately 25 per cent of participants with autism who were part of these studies.
"For decades we've observed tremendous variability in how autism manifests but we lacked direct evidence that these differences reflected distinct underlying biology," said Dr. Alessandro Gozzi, at Italian Institute of Technology. "Our approach enabled us to isolate specific genetic and immune factors, then translate those signatures to human brain scans, showing that different connectivity patterns encode different mechanistic pathways underlying autism."
Brain scans separated autism into two connectivity patterns and each tracked a different biological pathway. @NatureNeurohttps://t.co/iGZ3l7xyks
Medical Xpress (@medical_xpress) May 30, 2026
The human imaging data was obtained from the Autism Brain Imaging Data Exchange (ABIDE) which is a consortium of research centres from around the world. The data was then analyzed and the researchers observed the same hyperconnectivity and hypoconnectivity patterns that were found in mouse models. The results were further confirmed by gene expression analysis. Brain regions associated with hypoconnectivity were enriched with genes associated with synapses, and hyperconnected regions were enriched with genes associated with immune response. Importantly the same subtypes were detected in many independent data sets, thus these are reproducible and reliable.
The study also identified the two subtypes as having different overall brain organization and having some subtle differences in standard assessments of autism. The individuals in the hyperconnectivity group tended to score somewhat higher on the measures of autism severity. Researchers hope these discoveries could help pave the way for the future of personalized medicine where treatment is as personalized as the patient. But the team warned that these two types may be just part of autism's biological spectrum. With the continued accumulation of larger data sets, other subtypes of autism will be discovered and scientists will be one step closer to precision medicine for autism.
Disclaimer: This study is preliminary and does not change current autism diagnosis or treatment. More research is needed to confirm findings and their clinical significance.
