Most people with the X-linked syndrome have autism traits, and about one-quarter meet diagnostic criteria for the condition.

As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.

A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.

A new technique detects rare mutations that occur in only a subset of the body’s cells.