Tag: Rett syndrome

Canonical computations in autism

Hundreds of susceptibility genes have been identified for autism spectrum disorder (ASD), and many are related to synaptic function. This has led to a hypothesis that the deficits in ASD may reflect an imbalance in the relative contributions of excitatory and inhibitory synaptic inputs. Canonical neural computations are stereotyped, modular circuit functions that occur across the brain and can provide building blocks for more complex operations. Disruptions to these computations would be expected to have negative behavioral consequences. Interestingly, divisive normalization, one such canonical neural computation, computes a ratio between individual neuronal responses and the summed population activity, and inherently reflects the balance of excitation to inhibition.

Convergent signaling pathways linking PTEN and MeCP2, two risk genes for autism spectrum disorders

Aberrant PI3K/PTEN signaling during brain development has emerged as a key determining factor in autism spectrum disorders (ASDs). Germline mutations in PTEN have been found in 20 percent of individuals with ASD and severe macrocephaly. Indeed, there is a growing consensus that deregulation of PI3K/PTEN signaling signifies a convergent pathway for behavioral abnormalities associated with various neurodevelopmental disorders.

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