Two studies by different research groups — one led by Flora Vaccarino and the other by Juergen Knoblich — used brain organoids derived from pluripotent stem cells of people with autism and showed how transcriptional alterations affecting certain cell types during human brain development could contribute to the early emergence of ASD.

In a mouse model of fragile X syndrome, Emily Osterweil and her colleagues show that excessive protein synthesis drives a pathological compensatory rise in protein degradation (by the ubiquitin proteasome system), which can be targeted to correct various phenotypes including audiogenic seizures.

A study by Caroline Robertson and her colleagues found that reduced social attention was not a static omnipresent characteristic of autism; rather, it was magnified only under certain real-world conditions where sensory processing demands were high.

Elise Robinson and colleagues identified a large genomic region — chromosome 16p — where a rare 16p11.2 variant associated with autism functionally converges with common polygenic variation across 16p. Both rare and common genetic variation at 16p decreased expression of neuronally expressed genes, with relevance for increasing autism risk.

Studies by two different research teams — one led by Ethan Greenblatt and the other by Emily Osterweil — both suggest that FXS cells under-synthesize large proteins, findings that suggest a new point of view on a fundamental problem.

Genevieve Konopka and colleagues coupled brain imaging with measures of gene expression to reveal that gene expression patterns in the cortex that typically underlie functional brain activity in neurotypical individuals are affected in people with autism.