A new study published in Nature Genetics has identified four distinct varieties of autism, each linked to unique genetic profiles. The research team, led by a Princeton-led group, analyzed data from over 5,000 children with autism and found that the condition can be categorized into four subtypes: “social and behavioral challenges,” “mixed ASD with developmental delay,” “moderate challenges,” and “broadly affected.”
The study revealed that each subtype is associated with distinct genetic mutations, which suggests that there are multiple biological processes at play. For example, children in the “broadly affected” group had the highest proportion of genetic mutations not inherited from either parent, while those in the “mixed ASD with developmental delay” group were more likely to carry rare inherited genetic variants.
The discovery could provide new insights into autism, a condition known to be highly heritable. However, standard genetic testing only explains about 20% of cases. The researchers emphasize that their findings suggest multiple distinct narratives, rather than a single biological story of autism.
This breakthrough has significant implications for the understanding and treatment of autism, and may help explain why past genetic studies often fell short. By recognizing the diversity of genetic profiles associated with autism, researchers can develop more targeted and effective treatments in the future.
Source: https://www.axios.com/2025/07/09/researchers-identify-four-distinct-types-of-autism