The development of safe and effective new treatments for social impairments in autism is an important priority. Oxytocin and noninvasive brain stimulation hold great promise as potential therapies for social deficits in autism. The safety, effectiveness and basis of these new therapies remain poorly understood.

Nearly 90 percent of children with autism are estimated to suffer from sensory abnormalities, often hypersensitivities, to stimuli that a neurotypical individual could ignore. These hypersensitivities can, in principle, be caused by abnormally acute sensory capabilities. However, empirical data contradict this possibility; individuals with autism do not differ systematically from neurotypical controls in their sensory acuity. Pawan Sinha and his colleagues at the Massachusetts Institute of Technology plan to consider an alternative account of hypersensitivities in autism.

We are beginning to identify many genetic alterations, environmental factors and developmental processes that contribute to autism, but we do not yet understand how various molecular perturbations add up to cause the disorder. Vikaas Sohal and his colleagues at the University of California, San Francisco aim to identify possible alterations in the function of circuits in the prefrontal cortex that could contribute to autism.

Finding a way to diagnose autism early in development is crucial for devising new interventions and understanding its underlying neurobiological causes. It is, however, difficult to detect characteristic deviations in behavior or brain function in infants and toddlers. Measuring pupil size may be the right tool. The test is noninvasive, quick and easy to use, even in newborn infants. It is also surprisingly revealing of complex brain processes.

The etiology of autism is complex and mysterious. Autism has a strong genetic basis but there is remarkable diversity and heterogeneity in genes that are associated with the disorder. Despite this heterogeneity, a convergence of evidence suggests that disruptions in synapse function, neuronal activity and circuit formation are the origin of behaviors associated with autism.

Human brain function is the result of a highly organized network of connections linking multiple areas across the brain. A popular theory to explain autism is that genetic variants interact with environmental factors and lead to impaired or dysfunctional communication between these unique brain areas. However, the genetic and neurobiological determinants of the connectivity impairments observed in autism are largely unknown.

Autism is characterized by profound social impairments. There is little understanding of the origin of these social deficits, and efficient diagnosis and therapeutic options are lacking. Molecular genetic approaches allow for the discovery of specific neural circuits involved in social behavior, facilitating the development of diagnostics and therapeutic approaches specific to social deficits.

Advances in structural magnetic resonance imaging (MRI) offer improved ability to detect subtle abnormalities in brain architecture. MRI biomarkers for brain pathology in autism have been notoriously difficult to establish. Although this may be due to limitations in MRI technology, it may also result from combining individuals with diverse genetic and environmental factors that contribute to their autism.

Recent discoveries of contrasting phenotypes caused by deletion vs. duplication events within the same genetic locus suggest that investigation of gene dosage effects may provide valuable clues into how copy number variations (CNVs), or duplications or deletions of stretches of DNA, disrupt the brain and ultimately contribute to disease pathogenesis. However, almost nothing is known about the consequences of such reciprocal imbalances on brain function or behavior.

Between one-third and one-half of individuals with autism display repetitive, self-injurious behavior, ranging from head banging to self-directed biting and punching. In cases of treatment-resistant self-injurious behavior, electroconvulsive therapy (ECT) can produce life-changing results, with more than 90 percent suppression of self-injurious behavior.