Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94304, United States.
Cereb Cortex. 2023 Apr 25;33(9):5218-5227. doi: 10.1093/cercor/bhac411.
Boys with fragile X syndrome (FXS), the leading known genetic cause of autism spectrum disorder (ASD), demonstrate significant impairments in social gaze and associated weaknesses in communication, social interaction, and other areas of adaptive functioning. Little is known, however, concerning the impact of behavioral treatments for these behaviors on functional brain connectivity in this population. As part of a larger study, boys with FXS (mean age 13.23 ± 2.31 years) and comparison boys with ASD (mean age 12.15 ± 2.76 years) received resting-state functional magnetic resonance imaging scans prior to and following social gaze training administered by a trained behavior therapist in our laboratory. Network-agnostic connectome-based predictive modeling of pretreatment resting-state functional connectivity data revealed a set of positive (FXS > ASD) and negative (FXS < ASD) edges that differentiated the groups significantly and consistently across all folds of cross-validation. Following administration of the brief training, the FXS and ASD groups demonstrated reorganization of connectivity differences. The divergence in the spatial pattern of reorganization response, based on functional connectivity differences pretreatment, suggests a unique pattern of response to treatment in the FXS and ASD groups. These results provide further support for implementing targeted behavioral treatments to ameliorate syndrome-specific behavioral features in FXS.
患有脆性 X 综合征（FXS）的男孩是自闭症谱系障碍（ASD）的主要已知遗传原因，他们在社交注视方面存在明显障碍，并且在沟通、社交互动和其他适应功能领域存在相关弱点。然而，关于这些行为的行为治疗对该人群功能性大脑连接的影响，我们知之甚少。作为一项更大研究的一部分，我们对患有 FXS（平均年龄 13.23±2.31 岁）的男孩和患有 ASD（平均年龄 12.15±2.76 岁）的对照组男孩进行了静息态功能磁共振成像扫描，这些男孩在我们实验室接受了经过培训的行为治疗师的社交注视训练之前和之后。对预处理静息态功能连接数据进行基于网络的连接组学预测模型分析，揭示了一组正（FXS>ASD）和负（FXS<ASD）边缘，这些边缘在所有交叉验证折叠中都显著且一致地区分了两组。在进行短暂的训练后，FXS 和 ASD 组表现出连接差异的重组。基于预处理功能连接差异的重组反应的空间模式的发散，表明 FXS 和 ASD 组对治疗有独特的反应模式。这些结果为实施有针对性的行为治疗以改善 FXS 中的综合征特异性行为特征提供了进一步的支持。
