BACKGROUND 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Previous studies of functional connectivity (FC) in 22q11DS report aberrant connectivity patterns in large-scale networks that are associated with the development of psychotic symptoms. METHODS In this study, we performed a functional connectivity analysis using the CONN toolbox to test for differential connectivity patterns between 54 individuals with 22q11DS and 30 healthy controls, between the ages of 17-25 years old. We mapped resting-state fMRI data onto 68 atlas-based regions of interest (ROIs) generated by the Desikan-Killany atlas in FreeSurfer, resulting in 2278 ROI-to-ROI connections for which we determined total linear temporal associations between each. Within the group with 22q11DS only, we further tested the association between prodromal symptoms of psychosis and FC. RESULTS We observed that relative to controls, individuals with 22q11DS displayed increased FC in lobar networks involving the frontal-frontal, frontal-parietal, and frontal-occipital ROIs. In contrast, FC between ROIs in the parietal-temporal and occipital lobes was reduced in the 22q11DS group relative to healthy controls. Moreover, positive psychotic symptoms were positively associated with increased functional connections between the left precuneus and right superior frontal gyrus, as well as reduced functional connectivity between the bilateral pericalcarine. Positive symptoms were negatively associated with increased functional connectivity between the right pericalcarine and right postcentral gyrus. CONCLUSIONS Our results suggest that functional organization may be altered in 22q11DS, leading to disruption in connectivity between frontal and other lobar substructures, and potentially increasing risk for prodromal psychosis.

中文翻译：

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22q11.2缺失综合征的额叶连接不良：基于图集的功能连接分析。

背景技术22q11.2缺失综合征（22q11DS）是与认知和情感加工缺陷相关的神经发育综合征。该综合征是精神分裂症发展的最高危险因素之一。以前在22q11DS中进行的功能连接（FC）研究表明，大型网络中的异常连接模式与精神病性症状的发展有关。方法在本研究中，我们使用CONN工具箱进行了功能连通性分析，以测试54个22q11DS个体与30个健康对照（年龄在17-25岁之间）之间的差异连通性模式。我们将静止状态fMRI数据映射到FreeSurfer中Desikan-Killany地图集生成的68个基于地图集的感兴趣区域（ROI）上，导致2278个ROI到ROI的连接，我们确定了每个连接之间的总线性时间关联。在仅22q11DS组中，我们进一步测试了精神病的前驱症状与FC之间的关联。结果我们观察到，相对于对照组，具有22q11DS的个体在涉及额－额，额－顶和额枕ROI的大叶网络中显示出增加的FC。相反，与健康对照组相比，22q11DS组的顶颞叶和枕叶的ROI之间的FC降低。此外，积极的精神病症状与左前突神经和右上额额回之间的功能连接增加以及双侧黄ical肉之间的功能连接减少正相关。阳性症状与右心per和右中枢回之间的功能连接性增加负相关。结论我们的结果表明22q11DS中的功能组织可能会发生改变，从而导致额叶和其他大叶子结构之间的连通性中断，并可能增加前驱性精神病的风险。