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.

Autism is diagnosed based on the severity and variety of its symptoms. This makes it very difficult to diagnose and easy to confuse with other disorders, such as language delay and intellectual disability, cautions Isabelle Rapin.

MeCP2, the protein that’s missing or mutated in Rett syndrome, is crucial for remodeling neural circuits in response to vision, according to a study published in April in Neuron.

Genetic screening of children with autism is critical to designing more effective interventions and treatment, says a pediatrician.

Individuals with intellectual disability are more likely than controls to have harmful mutations in autism candidate genes, according to a study published 11 March in the American Journal of Human Genetics.

Mice lacking CNTNAP2, a gene linked to autism and language impairment, show behaviors and brain abnormalities that reflect those seen in people with disorder, according to new findings presented Thursday at the International Meeting for Autism Research in San Diego.

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.

Variants of three genes involved in a metabolic pathway together raise the risk of autism, according to a study published 5 March in the Journal of Neurodevelopmental Disorders.

Large studies on the epidemiology and genetics of epilepsy and autism have uncovered commonalities between the two disorders. But scientists are only beginning to untangle the biological roots of the overlap.

Smaller-than-normal volume in several brain regions, including a region involved in relaying motor signals, could be a marker for repetitive behavior in 3-year-old children, according to a study published 7 April in Autism Research.