A new statistical system ranks the potential harm done by each of the nearly 9 billion possible variants in the human genome, researchers reported in March in Nature Genetics.

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.

Many characteristics of Phelan-McDermid syndrome — an autism-linked disorder arising from abnormalities at the tip of chromosome 22q13 — change as individuals age.

Do genetic differences or diagnostic biases account for the gender imbalance in autism? Catherine Lord, David Skuse and Angelica Ronald weigh in.

Two studies published in the past month lend support to the notion that autism looks different in girls than it does in boys, making it harder to recognize and diagnose in girls. The studies reflect growing suspicion in the research community that the underlying biology and the experiences of girls with autism may both be distinct.

A teenager with fragile X syndrome carries a rare mutation that changes a single amino acid in the FMRP protein, researchers reported 22 January in the European Journal of Human Genetics.

It takes more mutations to trigger autism in women than in men, which may explain why men are four times more likely to have the disorder, according to a study published 26 February in the American Journal of Human Genetics.

The risk of certain autism spectrum disorders is highest in firstborn children and declines in each additional sibling born to the same mother, reports a large Finnish study published 28 January in Paediatric and Perinatal Epidemiology.

Adding to the complications of autism, overweight and obese children with the disorder are prone to a host of other troubles, including depression, anxiety and sleep problems, reports a study published 2 February in the Journal of Autism and Developmental Disorders.

In families with a history of autism, the affected children are seven times more likely to also have epilepsy than their unaffected siblings, according to a study published 1 December in Molecular Autism. The results suggest that epilepsy and autism share some risk factors.