A plan by an American Psychiatric Association revision committee to remove Rett syndrome from the Diagnostic and Statistical Manual of Mental Disorders (DSM) has sparked concern among some parents and researchers. But proponents of the change say the plan has been widely misunderstood, and their goal is better treatment for people with the neurodevelopmental disorder.

A new mouse model of 15q duplication syndrome, a genetic disorder associated with autism, falls short of recapitulating the symptoms of the syndrome. But it nonetheless points to a cluster of well-known risk genes as the most likely culprits.

A new study calls into question the assumption that Rett syndrome is exclusively a neurodevelopmental disorder caused by the lack of a critical protein in utero.

Researchers have upended a central tenet of biology by showing that there are more than 10,000 sites in the human genome where RNA sequences do not match the DNA sequences from which they are transcribed. The findings were published 19 May in Science.

Researchers have identified hundreds of previously unknown connections between proteins involved in autism spectrum disorders, according to a report published last week in Science Translational Medicine.

Children with autism have fewer DNA modifications that regulate gene expression compared with healthy siblings and controls, and show evidence of DNA damage, according to a study published 26 April in the Journal of Autism and Developmental Disorders.

Two networks of genes are abnormally expressed in the brains of people with autism, according to a study published today in Nature.

Researchers have devised a way to inactivate genes in zebrafish embryos, creating a collection of hundreds of mutant fish lines in which gene function can be explored. The technique was published online 8 May in Nature Methods.

Individuals with autism have multiple mutations in a pathway that functions in the mitochondria, the energy center of the cell, according to a study published 27 April in the European Journal of Human Genetics. They also have higher-than-average numbers of variants in pathways involved in metabolism, gene expression and the regulation of cell division.

A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.