Department of Psychiatry and Behavioral Sciences, State University of New York Upstate Medical University, 750 East Adams Street, Syracuse, NY, USA.
Department of Computer Science, State University of New York at Oswego, Oswego, NY, USA.
Behav Brain Funct. 2018 Jan 20;14(1):2. doi: 10.1186/s12993-018-0134-y.
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.
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.
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.
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.
22q11.2 缺失综合征（22q11DS）是一种与认知和情绪处理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风险因素之一。之前对 22q11DS 功能连接的研究报告称，在与精神病症状发展相关的大尺度网络中存在异常连接模式。
在这项研究中，我们使用 CONN 工具包进行了功能连接分析，以测试 54 名 22q11DS 患者和 30 名健康对照者之间的差异连接模式，年龄在 17-25 岁之间。我们将静息状态 fMRI 数据映射到 Desikan-Killany 图谱在 FreeSurfer 中生成的 68 个基于图谱的感兴趣区（ROI）上，得到 2278 个 ROI-ROI 连接，我们确定了每个连接的总线性时间关联。在仅患有 22q11DS 的组中，我们进一步测试了精神病前驱症状与 FC 的相关性。
我们观察到，与对照组相比，22q11DS 患者的额叶-额叶、额叶顶叶和额叶枕叶网络的连接增加。相比之下，22q11DS 组的顶叶颞叶和枕叶之间的 ROI 连接减少。此外，阳性精神病症状与左楔前叶和右额上回之间增加的功能连接以及双侧距状旁回之间减少的功能连接呈正相关。阳性症状与右侧距状旁回和右侧中央后回之间增加的功能连接呈负相关。
我们的结果表明，22q11DS 中的功能组织可能发生改变，导致额叶和其他叶状亚结构之间的连接中断，并可能增加前驱期精神病的风险。
