People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.

Altering a protein linked to Rett syndrome so that it cannot bind to a methylation tag in neurons results in Rett-like traits in mice.

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

Merging 3D clusters of neurons that mimic different brain regions models the atypical electrical activity seen in an autism-related condition.

Mutations in the autism-linked gene DNMT3A lead to the behaviors and gene-expression changes seen in different neurodevelopmental conditions.

Five collaborations involving autistic scientists and experts are advancing autism research, from lending support for theories of the condition to shoring up trials of new treatments.

Mutations in two genes linked to autism and intellectual disability boost the immune response and cause synapse dysfunction.

People and mice with only one working copy of the autism gene SYNGAP1 may have trouble processing sights and sounds.

The Spectrum team highlights five topics that distinguished autism research in 2020: diversity in data, gene therapies, subtyping, social circuitry and the ‘autism gene’ debate.

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.