Gao Yuanyuan, Li Rihui, Ma Qianheng, Bartholomay Kristi L, Lightbody Amy A, Reiss Allan L
Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, United States.
Biomedical Engineering Department, Wichita State University, Wichita, KS 67260-0066, United States.
Cereb Cortex. 2025 Jul 1;35(7). doi: 10.1093/cercor/bhaf124.
Fragile X syndrome (FXS) is a genetic condition associated with risk for deficits in executive function, especially response inhibition. Under a clinical setting, this study employs a mobile neuroimaging technique, functional near-infrared spectroscopy (fNIRS), to examine differences in inhibition-elicited neural activation between girls with FXS and a control group matched for age, cognitive function, and clinical symptoms. fNIRS data were collected from 42 girls with FXS and 31 controls during a go/nogo task, with valid data available from 35 and 30 respectively. Relative to the control group, girls with FXS showed higher brain activation (NoGo>Go) in the right dorsolateral prefrontal cortex (DLPFC), angular gyrus, precentral gyrus, and left frontal pole, and lower activation in the right ventrolateral prefrontal cortex, frontal pole, precentral cortex, middle temporal cortex, parietal lobe, and left superior temporal cortex. A significant positive correlation was found between DLPFC activation and response inhibition deficits in girls with FXS. Girls with FXS show abnormal neural activation in response to inhibitory stimulus. Aberrant neural activation in DLPFC in girls with FXS is associated with executive function deficits. fNIRS is established to allow participants to engage in a task in relatively more "real world" conditions compared to the scanner environment.
脆性X综合征（FXS）是一种与执行功能缺陷风险相关的遗传疾病，尤其是反应抑制方面。在临床环境下，本研究采用一种移动神经成像技术，即功能性近红外光谱（fNIRS），来检查患有FXS的女孩与在年龄、认知功能和临床症状方面相匹配的对照组之间，抑制引发的神经激活差异。在一项“去/不去”任务期间，从42名患有FXS的女孩和31名对照组中收集fNIRS数据，分别有35名和30名的有效数据。相对于对照组，患有FXS的女孩在右侧背外侧前额叶皮质（DLPFC）、角回、中央前回和左侧额极表现出更高的大脑激活（不去>去），而在右侧腹外侧前额叶皮质、额极、中央前皮质、颞中皮质、顶叶和左侧颞上皮质表现出更低的激活。在患有FXS的女孩中，发现DLPFC激活与反应抑制缺陷之间存在显著正相关。患有FXS的女孩对抑制性刺激表现出异常的神经激活。患有FXS的女孩DLPFC中的异常神经激活与执行功能缺陷有关。与扫描仪环境相比，fNIRS能够让参与者在相对更“真实世界”的条件下参与任务。
