Developmental Imaging and Psychopathology Lab, Department of Psychiatry, School of Medicine, University of Geneva, Geneva, Switzerland.
Department of Social Neuroscience, Max Planck Institute for Human Cognitive and brain Sciences, Leipzig, Germany.
Psychiatry Res Neuroimaging. 2019 Sep 30;291:9-17. doi: 10.1016/j.pscychresns.2019.07.004. Epub 2019 Jul 15.
The 22q11.2 deletion (22q11DS) syndrome is a neurogenetic condition marked by social dysfunction. A major network involved in social cognition is the default mode network (DMN). To date, no study has investigated DMN functional connectivity during socio-cognitive paradigms in 22q11DS.
We used the psychophysiological analysis (PPI) to investigate functional connectivity of the DMN during social perception in 22 participants with 22q11DS and 22 healthy controls. Association between DMN connectivity and prodromal symptoms was also examined.
22q11DS patients exhibited stronger connectivity between the inferior parietal lobule (IPL) and the posterior cingulate cortex (PCC)/precuneus as well as lower connectivity between the precuneus and middle/superior frontal regions compared to controls. Association between IPL-PCC/precuneus connectivity and negative symptoms was also found in individuals with 22q11DS.
Our results point to (1) divergent DMN connectivity in patients with 22q11DS compared to controls; (2) association between DMN connectivity and negative symptom severity in patients. Results support the role of the DMN in social deficits of the 22q11DS population.
22q11.2 缺失（22q11DS）综合征是一种神经发育疾病，以社交功能障碍为特征。参与社交认知的一个主要网络是默认模式网络（DMN）。迄今为止，尚无研究调查过 22q11DS 患者在社会认知范式中 DMN 的功能连接。
我们使用心理生理分析（PPI）来研究 22 名 22q11DS 患者和 22 名健康对照者在社会知觉期间 DMN 的功能连接。还检查了 DMN 连接与前驱症状之间的关联。
与对照组相比，22q11DS 患者的下顶叶（IPL）与后扣带回皮层（PCC）/楔前叶之间的连接更强，而楔前叶与中/额上叶之间的连接更弱。在 22q11DS 个体中还发现了 IPL-PCC/楔前叶连接与阴性症状之间的关联。
我们的研究结果表明：（1）与对照组相比，22q11DS 患者的 DMN 连接存在差异；（2）DMN 连接与患者阴性症状严重程度之间存在关联。这些结果支持 DMN 在 22q11DS 人群社交缺陷中的作用。
