Institute of Medical Science, University of Toronto, Toronto, Canada.
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MA, USA.
World J Biol Psychiatry. 2023 Mar;24(3):260-265. doi: 10.1080/15622975.2022.2093969. Epub 2022 Jul 15.
Recurrent chromosome 22q11.2 deletions cause 22q11 deletion syndrome (22q11DS), a multisystem disorder associated with high rates of schizophrenia. Neuroanatomical changes on brain MRI have been reported in relation to 22q11DS. However, to date no 22q11DS neuroimaging studies have examined cerebral blood flow (CBF). This exploratory case-control study seeks to identify differences in regional cerebral blood flow between 22q11DS subjects and controls, and their association with psychotic symptoms.
This study of 23 adults used arterial spin labelling MRI to investigate voxel-wise CBF in 22q11DS individuals compared with age- and sex-matched healthy controls.
Four significant clusters, involving the right and left putamen, right fusiform gyrus and left middle temporal gyrus, delineated significantly elevated CBF in individuals with 22q11DS compared to controls. analysis determined that this elevation in CBF trended with psychotic symptom diagnosis within the 22q11DS group.
These findings suggest possible relevance to schizophrenia risk and support further functional neuroimaging studies of 22q11DS with larger sample sizes to improve our understanding of the underlying pathophysiology.
染色体 22q11.2 重复缺失会导致 22q11 缺失综合征（22q11DS），这是一种多系统疾病，与精神分裂症的高发病率有关。已有研究报道，22q11DS 与脑 MRI 上的神经解剖学变化有关。然而，迄今为止，尚无 22q11DS 神经影像学研究检查脑血流（CBF）。本探索性病例对照研究旨在确定 22q11DS 患者与对照组之间区域性脑血流（rCBF）的差异，并探讨其与精神病症状的关系。
这项针对 23 名成年人的研究使用动脉自旋标记 MRI 比较了 22q11DS 个体与年龄和性别匹配的健康对照组之间的 rCBF。
与对照组相比，22q11DS 个体的右侧和左侧壳核、右侧梭状回和左侧颞中回四个显著簇显示 rCBF 显著升高。分析确定，22q11DS 组中 rCBF 的升高与精神病症状的诊断呈趋势相关。
这些发现提示与精神分裂症风险可能有关，并支持进一步对 22q11DS 进行更大样本量的功能性神经影像学研究，以加深我们对潜在病理生理学的理解。
