We lack effective tools for assessing behavior and cognition in the most severely impaired individuals with autism. Jeffrey Munson and his colleagues at the University of Washington are addressing this need through the application of motion-controlled gaming technologies.
Autism spectrum disorder is widely regarded as one of the most severe childhood psychiatric conditions. The root causes of this disorder have generally been viewed as either genetic or environmental. The interaction between genetic and environmental factors has not been investigated widely, however, despite the fact that synergistic effects have been found for other neurodevelopmental disorders such as depression.
As the number of genetic anomalies associated with autism continues to escalate, demand grows to understand the mechanisms through which these genes affect brain function and behavior. Mouse models engineered to express autism susceptibility genes are critical for achieving this goal, but their utility depends on behavioral assessment methods that have limited reliability, comprehensiveness, sensitivity and throughput.
Autism is a developmental disorder that is most likely triggered during prenatal or early postnatal life. Yehezkel Ben‐Ari and his colleagues at the Mediterranean Institute of Neurobiology and the pharmaceutical company Neurochlore, in France, aim to identify the earliest signals of autism that can be detected in the operation of developing brain networks.
Considerable evidence suggests that changes to brain activity in the cerebellum are involved in autism spectrum disorder. In addition, disruption of a molecular pathway that controls protein synthesis — the mTORC1 pathway — has been implicated in the disorder. In a mouse model in which the mTORC1 pathway has been selectively disrupted in cerebellar neurons called Purkinje cells (PCs), the mice show numerous behaviors that are consistent with symptoms of autism.
The cerebellum is a brain region that performs multisensory processing to guide movement and cognition. Although autism spectrum disorders are associated with structural abnormalities and deficiencies in the number and appearance of cells in the cerebellum, cerebellar function in autism has not yet been rigorously characterized.
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.
Normal behavior requires that brain regions interact with one another, and these interactions depend on the task; they change as attention shifts and as an action is planned and executed. Jonathan Victor and his colleagues at Weill Cornell Medical College in New York have developed a new technology to delineate these moment‐to‐moment changes in brain activity patterns so that they can be compared between typically developing children and those with autism.
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.