认知与发展心理学研究室知识库

孤独症谱系障碍（autism spectrum disorder, ASD）是一种神经发育性障碍， 其核心症状为社交障碍，伴随不同感觉模态的异常，且在个体间存在高度的基因 型及表型异质性。Shank3 是主要的孤独症候选基因，突变发生在 1-2%的孤独症 谱系障碍患者中。本研究采用非言语依赖的生理指标，关注 Shank3 突变儿童相 较非 Shank3 孤独症儿童和正常发育儿童在嗅、触感知层面的异常以及在静息和 观看社会交互动画短片时脑电模式的差异。初步实验结果显示，Shank3 突变儿 童无法根据气味的效价自主调节呼吸强弱。整体而言，他们在静息状态下脑电模 式符合兴奋/抑制平衡异常的理论假设，在 alpha 波段的功率相对较低，在 beta 和 low-gamma 波段则较高。并且其静息状态下 alpha 波段在额部及枕部表现出连 接性不足，中央顶叶脑区的 gamma 波段则出现过度连接，此外 Shank3 突变儿童 的 theta 及 alpha 波段神经振荡的信息传输效率也低于其他两类群体。另一方面， 非 Shank3 孤独症儿童的各个频谱能量分布以及功能连接模式上同正常发育儿童 差异较小，在功能连接强度和基于图论分析的信息传输效率上较低。然而观看社 会交互动画短片时，无论是 Shank3 突变儿童还是非突变孤独症儿童都表现出显 著降低的 mu 抑制。针对不同亚型的孤独症患儿的行为和神经表型研究将增进对 孤独症谱系障碍这一复杂疾病的理解。

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and sensory processing, with significant heterogeneity in genotype, phenotype, and outcome. Shank3, a leading autism candidate gene, has mutations occurring in 1-2% of individuals with ASD. This study compared responses to olfactory and tactile stimuli among children with Shank3-mutant ASD, non-mutant ASD children, and typically developing (TD) children, using non-verbal physiological measures. Electroencephalographic (EEG) activities at rest and during the viewing of dynamic animated social interactions were also examined. The results revealed that, unlike TD children, the sniff volume in children with Shank3-mutant ASD was not modulated by odor valence. Furthermore, children with Shank3-mutations exhibited an overall reduction in alpha activities and an increase in beta and low-gamma activities compared to TD and non-mutant ASD children, suggesting a general abnormality in the inhibition/excitation balance. This was further evidenced by alpha-band hypoconnectivity in the occipital and frontal regions, gamma-band hyperconnectivity in the central-parietal region, and reduced efficiency in information transfer in theta and alpha networks at rest. On the other hand, non-mutant ASD children showed minor differences from TD children in the power spectrum of resting-state brain oscillations and network connectivity patterns. They exhibited reduced functional connectivity and also efficiency in information transfer in the lower frequency bands. When viewing animated video clips, however, both children with Shank3-mutant ASD and non-mutant ASD children showed significantly reduced mu-suppression. Our data add to the behavioral and neurophenotypic characterizations of children with different subtypes of ASD and contribute to the understanding of this complex disorder.