Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Australian Research Council Centre of Excellence for Integrative Brain, The University of Queensland, Brisbane, Australia.
Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Australian Research Council Centre of Excellence for Integrative Brain, The University of Queensland, Brisbane, Australia.
Neuroimage. 2019 Apr 15;190:154-171. doi: 10.1016/j.neuroimage.2018.09.001. Epub 2018 Sep 5.
The 22q11.2 deletion is one of the most common copy number variants in humans. Carriers of the deletion have a markedly increased risk for neurodevelopmental brain disorders, including schizophrenia, autism spectrum disorders, and attention deficit hyperactivity disorder. The high risk of psychiatric disorders associated with 22q11.2 deletion syndrome offers a unique possibility to identify the functional abnormalities that precede the emergence of psychosis. Carriers of a 22q11.2 deletion show a broad range of sensory processing and cognitive abnormalities similar as in schizophrenia, such as auditory and visual sensory processing, response inhibition, working memory, social cognition, reward processing and arithmetic processing. All these processes have a significant negative impact on daily life if impaired and have been studied extensively in schizophrenia using task-based functional neuroimaging. Here, we review task-related functional brain mapping studies that have used electroencephalography or functional magnetic resonance imaging to identify functional alterations in carriers with 22q11.2 deletion syndrome within the above mentioned cognitive and sensory domains. We discuss how the identification of functional changes at the brain system level can advance the general understanding of which neurobiological alterations set the frame for the emergence of neurodevelopmental disorders in the human brain. The task-based functional neuroimaging literature shows conflicting results in many domains. Nevertheless, consistent similarities between 22q11.2 deletion syndrome and schizophrenia have been found for sensory processing, social cognition and working memory. We discuss these functional brain alterations in terms of potential biomarkers of increased risk for psychosis in the general population.
22q11.2 缺失是人类中最常见的拷贝数变异之一。缺失的携带者有明显增加的神经发育性脑障碍的风险，包括精神分裂症、自闭症谱系障碍和注意缺陷多动障碍。与 22q11.2 缺失综合征相关的精神疾病高风险为识别精神病前出现的功能异常提供了一个独特的可能性。22q11.2 缺失的携带者表现出广泛的感觉处理和认知异常，类似于精神分裂症，如听觉和视觉感觉处理、反应抑制、工作记忆、社会认知、奖励处理和算术处理。如果这些过程受损，所有这些过程都会对日常生活产生重大负面影响，并已在精神分裂症中使用基于任务的功能神经影像学进行了广泛研究。在这里，我们回顾了使用脑电图或功能磁共振成像来识别 22q11.2 缺失综合征携带者在上述认知和感觉领域内的功能改变的任务相关功能脑映射研究。我们讨论了如何在大脑系统水平上识别功能变化可以促进对哪些神经生物学改变为人类大脑中神经发育障碍的出现奠定框架的一般理解。基于任务的功能神经影像学文献在许多领域显示出相互矛盾的结果。然而，在感觉处理、社会认知和工作记忆方面，22q11.2 缺失综合征和精神分裂症之间存在一致的相似性。我们根据一般人群中精神病风险增加的潜在生物标志物讨论这些功能脑改变。
