Two mutations in an autism-associated gene, neurexin-1, may have combined to cause autism in one man, whereas family members with only one of the two mutations have other neurological disorders, according to a study published 15 February in the American Journal of Medical Genetics Part B.

DISC1, an autism-associated protein, can form large aggregates that deplete the amount of functional DISC1 in cells, according to a study published 14 February in Human Molecular Genetics.

Prenatal genetic tests that can detect copy number variations, including those linked to autism, could raise tough questions for doctors and parents.

A certain type of bacteria is prevalent in the intestines of children who have both autism and gastrointestinal (GI) symptoms but absent in controls, according to a study published 10 January in mBio.

Researchers have generated and sequenced almost 200 different strains of fruit flies, a widely used model organism, according to a study published 8 February in Nature. The resource they created, called the Drosophila Genetic Reference Panel, will enable researchers to link genetic variants with aspects of fly biology and behavior.

Children with autism activate more brain regions than controls do when listening to tonal inflections in speech that convey meaning. The findings were published 19 December in Child Neuropsychology.

The characteristics, interactions and roles of autism-associated genes in the fruit flies’ brain will help guide how we think about the same genes in humans, says Ralph Greenspan.

The odds of having a child with autism begin to rise at age 35 for both men and women, but that risk does not increase further when both parents are over 35, according to a large study published in the March issue of Annals of Epidemiology.

Children with autism who have different verbal and intellectual abilities seem to glean useful social information from different parts of the face, according to the largest-ever eye-tracking study of the disorder. The findings are published in the March issue of the Journal of the American Academy of Child and Adolescent Psychiatry.

A cellular pathway that initiates protein synthesis may be overactive in individuals with fragile X syndrome, according a study published 23 January in Genes, Brain and Behavior.