Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
Despite the huge variation in how autistic people experience the condition, they can be divided into just four subgroups, according to a preprint. The people in these groups—who share similar traits and life outcomes—carry gene variants that implicate distinct biological pathways, the researchers found.
Each group is associated with specific genetic variants that influence gene expression at different stages of development, the investigation revealed. The work includes genetic and phenotypic data from more than 5,000 autistic children.
Identifying autism subtypes has been on the minds of autism researchers for many years, says Thomas Frazier, professor of psychology at John Carroll University, who was not involved in the work. “But what’s really cool is that they link that to the underlying biology. To my knowledge, this is the first study to do this in a comprehensive, replicable way.”
Autism traits vary dramatically from person to person, and that diversity is reflected in the hundreds of genetic variants linked to the condition. But in most cases, genetic differences haven’t been reliably mapped to autism traits, and two people with the same variant can show different phenotypes.
