During embryonic development, a ‘protomap’ of the cortex forms in the developing brain region that will become the cerebral cortex. Robert Hevner and his colleagues at Seattle Children’s Research Institute are studying the mechanisms that maintain this patterning of regional identity throughout embryonic development.

Fragile X syndrome is the most common heritable form of intellectual disability and a leading genetic cause of autism. The disorder results from loss of a key regulatory protein known as FMRP, but how the absence of this protein causes the cognitive impairments associated with fragile X syndrome is still unclear. Suzanne Zukin and her colleagues at Albert Einstein College of Medicine in New York, as well as others, have identified hyperactivation of a key cellular signaling pathway — the PI3K-mTOR signaling pathway — as a key feature of the syndrome.

Some overlap between 7q11.23 duplication syndrome and autism spectrum disorder has been reported in a large cohort of children. Individuals with duplication of this region show features commonly found in individuals with autism, such as speech delay.

Choline is an essential nutrient for all animals, including humans. Prenatal and early postnatal supplementation with choline has been shown to enhance long-term cognitive performance, improve motor deficits in a mouse model of Rett syndrome, and reduce the adverse effects of neonatal alcohol exposure in rodents.

Environmental and genetic risk factors are both known to contribute to autism. Theo D. Palmer and his colleagues at Stanford University in California studied how a relatively common genetic risk factor may make developing fetuses more vulnerable to the mother’s immune response to illness or infections during pregnancy.

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.

Most research into autism spectrum disorders has focused on genetic, behavioral and neurological aspects of the illness, but people with autism also show striking alterations in immune status.

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.

James Rand and his colleagues at the Oklahoma Medical Research Foundation studied the functions of a post-synaptic adhesion protein called neuroligin and the consequences of mutations affecting this protein. There are four neuroligin-encoding (NLGN) genes in people, and mutations disrupting NLGN3 and NLGN4 are associated with a subset of autism cases. Rand and his group used the roundworm C. elegans because of its simple nervous system and its ease of genetic and molecular analysis. Many studies have demonstrated that C. elegans neuronal proteins are structural and functional homologs of the corresponding mammalian proteins.