VIENNA — A new study on autism spectrum conditions was published in the journal Nature. The research, led by Professor and Executive Vice President Gaia Novarino at the Institute of Science and Technology Austria, identified shared biological pathways and sex-specific responses in autism spectrum conditions.

The research team utilized single-nucleus multi-omics sequencing to examine individual brain cell nuclei. Researchers from the Medical University of Vienna, the University of Vienna, and CeMM collaborated on the project. The study analyzed more than 250 samples covering high-risk autism spectrum condition genes in two different brain regions from male and female mice.

Lena Schwarz, a researcher on the project, analyzed molecular changes across several genetic models and developmental stages to identify shared biological pathways. Schwarz said, "With such an overview, we wanted to understand whether different genetic causes of autism might still lead to overlapping effects-and where their effects differ." The same brain cell types and molecular processes were affected across the genetic models during early brain development in the mice. However, each genetic model also displayed a distinct molecular fingerprint.

Observed changes appeared as transient delays in cell maturation and connectivity rather than permanent defects. Many developmental differences between the models began to fade approximately two weeks after birth in the mice. Changes in brain activity mirrored the molecular processes observed during the study. Additionally, female mice demonstrated different responses to autism-linked mutations compared to male mice.

Novarino said, "Our findings advocate for therapeutic approaches that are stage-specific, sex-specific, and trajectory-specific. Rather than looking for a single universal intervention, we need to account for when in development we intervene, the biological sex of the individual, and the specific genetic and molecular trajectory that person is on." Novarino also said, "Autism spectrum conditions affect many children and families around the globe. Understanding what is happening in their brains matters on two levels: it deepens our knowledge of human brain development more broadly, and it brings us closer to being able to meaningfully support these individuals."