Two studies published in the past month highlight the challenges in balancing the accuracy of autism diagnosis with cost-effectiveness and speed.

A five-minute online questionnaire can diagnose autism with as much accuracy as the so-called gold standard diagnostic tests, according to unpublished findings presented Tuesday at the Autism Consortium 2011 symposium in Boston.

In families that have more than one child with autism, the middle children, particularly those born second, have a higher risk of developing autism than other children in the family, according to a study published 19 October in PLoS One. In families that have only one child with autism, however, risk of the disorder rises with each additional birth, the study found.

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

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.

Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.

Deletion of the chromosomal region 17q12 dramatically increases the risk for autism and schizophrenia, according to a large study published last week in the American Journal of Human Genetics. Individuals missing this sizeable region are about 14 times more likely to develop one of those disorders, the study reports.