Deletions on chromosome 16 at the 16p11.2 region result in autism in a small portion of the general population. Major vault protein (MVP) is a gene within this region.

Abnormalities in brain development associated with autism may be caused by abnormally high activity of the beta-catenin signaling pathway. Anjen Chenn and his colleagues at the University of Illinois at Chicago, with Eric Courchesne and his colleagues at the University of California, San Diego, aim to test the hypothesis that beta-catenin signaling levels are higher in cells from individuals with autism than in controls.

Several lines of evidence implicate the adult stem cell-containing subependymal zone (SEZ) in autism spectrum disorder (ASD). The goal of this project is to determine if SEZ stem cells and neurogenesis are altered in ASD.

Autism has strong genetic origins, but neither common nor rare gene variants explain the majority of cases. This suggests that less-studied portions of the genome may contribute significantly to the disorder.

J. David Sweatt and his colleagues at the University of Alabama at Birmingham carried out a set of mechanistic studies, using laboratory animals and cellular model systems, to understand the role of the TCF4 transcription factor in cognitive and central nervous system function. As a transcription factor, TCF4 directly regulates gene expression in the brain during development and in adulthood.

The most common genetic cause of autism is the deletion or duplication of a small region of human chromosome 16. Although these genetic changes account for only about 1 percent of all cases of autism, they predictably result in autism symptoms.

In daily life, people often experience activation of multiple sensory systems at the same time. For example, speech perception and social behavior rely on an interaction between the auditory and visual systems (i.e., listening to a person’s voice while watching his lips move). Similarly, as people interact with the environment, signals from the visual and balance (vestibular) systems must work together. This process is known as ‘multisensory integration,’ and when it’s not functioning well, as in autism, life becomes challenging.

Pavel Osten and his colleagues at Cold Spring Harbor Laboratory in New York studied mouse brain circuits that mediate social and other innate behaviors, such as aggression and sexual behaviors. The researchers used a novel method called serial two-photon tomography and computational whole-brain analysis of the induction of the immediate early gene c-FOS, one of a class of genes induced by neuronal activity and a molecular marker of neuronal activation.

Autism spectrum disorders are prevalent neurodevelopmental disorders that involve early postnatal symptoms and regression of developmental milestones within the first few years of life. Healthy brain development, particularly in regions of the cortex involved in sensory and cognitive processing, depends on periods of rapid cellular growth known as critical periods. Connections between neurons, or synapses, are formed and refined during these time-restricted windows in a process known as synaptic plasticity, which is key to the proper functioning of the brain. Mouse models of autism show delays in specific developmental milestones: Synaptic connections remain in an immature state past the normal closure of the critical period, and there is a shift in the window for when synapses can be modified by experience.

Despite the high heritability of autism, the genetic risk factors are still poorly understood. In the absence of reliable and feasible biomarkers, autism spectrum disorders are still diagnosed exclusively according to behavioral criteria. Novel therapeutic approaches are urgently needed, yet genome‐wide association studies have not met the need for a better understanding of the etiology of autism.