Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder associated with multiple congenital anomalies, variable medical features, and neurodevelopmental differences resulting in diverse psychiatric phenotypes, including marked deficits in facial memory and social cognition. Neuroimaging in individuals with 22q11.2DS has revealed differences relative to matched controls in BOLD fMRI activation during facial affect processing tasks. However, time-varying interactions between brain areas during facial affect processing have not yet been studied with BOLD fMRI in 22q11.2DS. We applied constrained principal component analysis to identify temporally overlapping brain activation patterns from BOLD fMRI data acquired during an emotion identification task from 58 individuals with 22q11.2DS and 58 age-, race-, and sex-matched healthy controls. Delayed frontal-motor feedback signals were diminished in individuals with 22q11.2DS, as were delayed emotional memory signals engaging amygdala, hippocampus, and entorhinal cortex. Early task-related engagement of motor and visual cortices and salience-related insular activation were relatively preserved in 22q11.2DS. Insular activation was associated with task performance within the 22q11.2DS sample. Differences in cortical surface area, but not cortical thickness, showed spatial alignment with an activation pattern associated with face processing. These findings suggest that relative to matched controls, primary visual processing and insular function are relatively intact in individuals with 22q11.22DS, while motor feedback, face processing, and emotional memory processes are more affected. Such insights may help inform potential interventional targets and enhance the specificity of neuroimaging indices of cognitive dysfunction in 22q11.2DS.

染色体 22q11.2 缺失综合征 (22q11.2DS) 是一种多系统疾病，与多种先天性异常、可变医学特征和神经发育差异相关，导致多种精神病表型，包括面部记忆和社会认知方面的明显缺陷。22q11.2DS 患者的神经影像学显示，在面部情感处理任务中，BOLD fMRI 激活与匹配对照存在差异。然而，尚未使用 22q11.2DS 中的 BOLD fMRI 研究面部情感处理过程中大脑区域之间随时间变化的相互作用。我们应用约束主成分分析，从 58 名 22q11.2DS 个体和 58 名年龄、种族、和性别匹配的健康对照。22q11.2DS 个体的延迟额叶运动反馈信号减弱，参与杏仁核、海马体和内嗅皮质的延迟情绪记忆信号也减弱。在 22q11.2DS 中，早期与任务相关的运动和视觉皮层参与以及与显着性相关的岛叶激活相对保留。岛叶激活与 22q11.2DS 样本中的任务表现相关。皮层表面积的差异，而不是皮层厚度，显示出与面部处理相关的激活模式的空间对齐。这些发现表明，相对于匹配的对照组，22q11.22DS 患者的初级视觉处理和岛叶功能相对完整，而运动反馈、面部处理和情绪记忆过程受到的影响更大。