Autism impairs the development of social behavior, emotions and communication. The prefrontal cortex plays an important role in the early development of these skills and displays abnormal growth and function in children with autism. Few studies have looked for autism-associated neural defects in this region in young children.

Children with autism and related disorders often have problems with language acquisition. Simon Fisher of Oxford University and his colleagues are aiming to uncover the neural mechanisms of abnormal language development by studying the key genetic pathways that can go awry in these disorders.

Luis Parada and his colleagues at the University of Texas Southwestern Medical Center in Dallas have been studying the brain morphology and behavior of mice with mutations that are specific to certain brain regions. In previous work, they generated a mouse line in which PTEN was deleted in neurons of the cortex and hippocampus.

Jesse Snedeker and her colleagues at Harvard University conducted a series of studies on language comprehension in autism. The participants were 40 children with autism, aged 6 to 9 years, who had strong verbal skills, and 40 typically developing children who were matched for age, gender, language ability and nonverbal intelligence.

Charles Nelson and his colleagues at Boston Children’s Hospital/Harvard Medical School investigated early brain development in infants at high familial risk for autism. Risk is defined as having an older sibling with the disorder. The researchers used electrophysiological (electroencephalogram or event-related potential) and metabolic (functional near-infrared spectroscopy) measures of neural responses to social stimuli such as faces, speech and language.

The underlying causes of autism spectrum disorders are poorly understood, but one appealing hypothesis is that an imbalance of excitation and inhibition in the brain’s cortex underlies a significant proportion of autism cases.

A major goal of autism research is to identify the underlying genetic variants that contribute to risk of the disorder. Knowledge of these genetic variants may yield insight into how and why autism symptoms develop, and ultimately provide a list of potential therapeutic targets.

Four times as many males as females are afflicted with autism. Although there is much speculation about this sex bias, there have not been many well-powered studies designed to identify female genetic susceptibilities and differentiate them from male risk factors. Lauren Weiss and her colleagues at the University of California, San Francisco, set out to map the difference between male and female autism at the level of DNA. Understanding sexual dimorphism at this level may suggest ways to reduce autism risk for males and females.

A number of the genes that have been implicated in autism have counterparts in model organisms, such as mice and fruit flies. This evolutionary conservation allows researchers to gain insights into the molecular pathways in which these autism-linked genes function. Lawrence Zipursky, of the University of California, Los Angeles, and his colleagues are studying one such conserved gene and its role in brain development.

Flora Vaccarino and her colleagues at Yale University have developed and characterized several lines of human induced pluripotent stem (iPS) cells from the skin cells of two individuals with autism and their family members, all from the Simons Simplex Collection. These two individuals show a larger-than-normal head circumference.