Research of diagnostic marker of autism spectrum disorders based on the mirror neuron failure hypothesis.

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The purpose of this study is to elucidate the biological markers that allow very early diagnosis of ASD based on the MNS failure hypothesis. We measured the MNS activity non-invasively using the NIRS and investigated the relationship between the intermediate phenotypes and genetic polymorphisms involved in brain development of ASD. In the NIRS study using the imitation task, ASD group disappeared the MNS activity in the left frontal lobe advantage. The gene analysis, the polymorphism of oxytocin receptor gene is related to a decrease in N-acetylaspartate/creatine ratio of the right medial temporal lobe and the failure of imitation of ASD, and the polymorphism of 5-HT 1A receptor gene is associated with a stereotyped repetitive behavior revealed. In association studies, we identified a missense mutation in the gene TPH2. The failure of the MNS in ASD detected by NIRS, to be useful in the early diagnosis of ASD was suggested. Further, we could identify some of the genetic polymorphism associated with intermediate phenotypes ASD or disease. Combination of these diagnostic imaging and genetic, may be a biological marker that allows for very early diagnosis of ASD.