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Family Studies of Sensorimotor and Neurocognitive Heterogeneity in Autism Spectrum Disorders.

机译:感觉运动的家族研究与自闭症谱系障碍的神经认知异质性。

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Pathophysiological mechanisms associated with autism spectrum disorder (ASD) are not well understood and likely diverse. Identifying biologically homogeneous subgroups of affected individuals and families is an important step to determining these mechanisms. During the project period, we have examined 50 probands with ASD, 100 of their biological parents, and 75 age- and IQ-matched healthy controls performing tests of oculomotor and manual motor control. Our preliminary analyses have identified several important findings. First, we have found reduced accuracy of rapid oculomotor and manual motor behaviors in ASD implicating feedforward processes involved in planning initial motor output. Second, we have seen reduced accuracy of sustained oculomotor movements and manual motor contractions suggesting that visual feedback control of ongoing motor behavior also is disrupted. Third, individuals with ASD showed reduced ability to inhibit contextually inappropriate motor behaviors indicating top-down control of basic motor output systems is compromised. We previously found that feedforward, feedback, and top-down control of oculomotor behaviors were disrupted in unaffected first-degree relatives of individuals with ASD (Mosconi et al., 2010) and now are in position to assess whether deficits in affected individuals and their unaffected biological parents co-segregate across different effectors (eye and hand) and systems (feedforward, feedback and top-down). These analyses will allow us to determine the power of our measures to characterize pathophysiological mechanisms associated with ASD and parse etiopathological heterogeneity.

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