Deletions in neurexin-1, a candidate gene for autism, may cause intellectual disability, speech delays, seizures, poor muscle tone and unusual facial features, according to two studies published in the past two months.

Two proteins involved in shuttling other proteins between the outside and inside of a cell show a distinct pattern of expression in autism brains, according to a report published 19 March in Molecular Psychiatry.

Conversations with researchers at the 2013 International Meeting for Autism Research in San Sebastián, Spain, raised provocative questions about the nature of autism. How do we make sense of its staggering heterogeneity, multiple genetic causes and widespread overlap with other disorders?

Intellectual disability, autism, epilepsy and schizophrenia should be considered part of a spectrum of developmental brain dysfunction, says David Ledbetter.

A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.

A boy with a rare deletion in chromosome 3 was diagnosed with autism and psychotic symptoms by age 5, according to a case report published 26 February in the American Journal of Medical Genetics Part A. He is the second identified individual with this deletion who has these symptoms, which are exceedingly rare in combination.

The search for rapid autism diagnosis has been elusive so far. Several researchers are instead looking for ways to prioritize the assessment of children at risk for the disorder, quickly establishing a diagnosis when it’s clear-cut and referring more complex cases for in-depth evaluation.

Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.

A boy with autism lacks one copy of SHANK2 and has a duplication of CHRNA7, two genes that have been linked together to autism risk, according to a case study published 25 January in Clinical Genetics.

Deletions in the autism-linked gene AUTS2 trigger a variety of symptoms, including intellectual disability, developmental delay, a small head and unusual facial features, suggests a large study published 7 February in the American Journal of Human Genetics.