Autism is commonly seen in people with the genetic disorder tuberous sclerosis complex (TSC). TSC involves two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively. TSC proteins regulate an important signaling pathway known as the mTOR pathway, which plays an essential role in interconnectivity and communication between neurons in the brain.

Although a number of studies have documented abnormal expression of metabolites in blood and urine samples from individuals with autism, no clear metabolic biomarkers or unifying concepts regarding metabolic dysregulation and brain development have emerged from such studies.

Attention is a complex psychological construct that taps into multiple brain mechanisms, and it is thought that attentional abnormalities are common in children with autism spectrum disorders. However, not all aspects of attention are deficient in these children. Yuhong Jiang and her colleagues at the University of Minnesota investigated the integrity of one type of attention in autism: stimulus-driven attention that is guided by implicit (unconscious) learning.

Mark Alter and his colleagues at the University of Pennsylvania study the relationship between brain cell maturation and the transcription of genes. Each cell type has its own transcription program, depending on which genes it uses to function. As brain cells mature, they undergo many changes in their cellular transcription programs.

Animal models offer opportunities to conduct biological studies in order to identify the mechanisms responsible for autism symptoms. Researchers commonly use the BTBR mouse strain as a model for studying mechanisms that may be responsible for the development of autism, because BTBR mice show many autism-like behaviors.

Atypical control of attention is a core component of autism spectrum disorders. Eric Knudsen and his colleagues at Stanford University in California set out to develop a new model system (chickens) to accelerate the discovery of neural mechanisms that control attention. The researchers have developed behavioral protocols for controlling and measuring the effects of attention in chickens.

This was a one-year project designed to obtain initial electrophysiological data from individuals with autism undergoing neurosurgery. The goal of the study was twofold: to obtain single-neuron recordings from the brains of these individuals (a rare opportunity) and to establish a consortium of hospitals with collaborating neurosurgeons.