Schreiner Matthew J, Karlsgodt Katherine H, Uddin Lucina Q, Chow Carolyn, Congdon Eliza, Jalbrzikowski Maria, Bearden Carrie E
Interdepartmental Neuroscience Program, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, Department of Psychiatry, Feinstein Institute for Medical Research, Manhasset, NY 11030, Zucker Hillside Hospital, Glen Oaks, NY 11004, Department of Psychiatry & Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305 and Department of Psychology, University of California, Los Angeles, CA 90095, USA Interdepartmental Neuroscience Program, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, Department of Psychiatry, Feinstein Institute for Medical Research, Manhasset, NY 11030, Zucker Hillside Hospital, Glen Oaks, NY 11004, Department of Psychiatry & Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305 and Department of Psychology, University of California, Los Angeles, CA 90095, USA.
Interdepartmental Neuroscience Program, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, Department of Psychiatry, Feinstein Institute for Medical Research, Manhasset, NY 11030, Zucker Hillside Hospital, Glen Oaks, NY 11004, Department of Psychiatry & Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305 and Department of Psychology, University of California, Los Angeles, CA 90095, USA.
Soc Cogn Affect Neurosci. 2014 Sep;9(9):1261-7. doi: 10.1093/scan/nst114. Epub 2013 Aug 2.
22q11.2 deletion syndrome (22q11DS) is a genetic mutation associated with disorders of cortical connectivity and social dysfunction. However, little is known about the functional connectivity (FC) of the resting brain in 22q11DS and its relationship with social behavior. A seed-based analysis of resting-state functional magnetic resonance imaging data was used to investigate FC associated with the posterior cingulate cortex (PCC), in (26) youth with 22qDS and (51) demographically matched controls. Subsequently, the relationship between PCC connectivity and Social Responsiveness Scale (SRS) scores was examined in 22q11DS participants. Relative to 22q11DS participants, controls showed significantly stronger FC between the PCC and other default mode network (DMN) nodes, including the precuneus, precentral gyrus and left frontal pole. 22q11DS patients did not show age-associated FC changes observed in typically developing controls. Increased connectivity between PCC, medial prefrontal regions and the anterior cingulate cortex, was associated with lower SRS scores (i.e. improved social competence) in 22q11DS. DMN integrity may play a key role in social information processing. We observed disrupted DMN connectivity in 22q11DS, paralleling reports from idiopathic autism and schizophrenia. Increased strength of long-range DMN connectivity was associated with improved social functioning in 22q11DS. These findings support a 'developmental-disconnection' hypothesis of symptom development in this disorder.
22q11.2缺失综合征（22q11DS）是一种与皮质连接障碍和社会功能障碍相关的基因突变。然而，对于22q11DS静息态大脑的功能连接（FC）及其与社会行为的关系知之甚少。本研究采用基于种子点的静息态功能磁共振成像数据分析，调查了26名患有22qDS的青年和51名人口统计学匹配的对照组与后扣带回皮质（PCC）相关的FC。随后，在22q11DS参与者中检查了PCC连接性与社会反应量表（SRS）得分之间的关系。相对于22q11DS参与者，对照组在PCC与其他默认模式网络（DMN）节点（包括楔前叶、中央前回和左额极）之间显示出显著更强的FC。22q11DS患者未表现出典型发育对照组中观察到的与年龄相关的FC变化。在22q11DS中，PCC、内侧前额叶区域和前扣带回皮质之间连接性增加与较低的SRS得分（即社会能力提高）相关。DMN完整性可能在社会信息处理中起关键作用。我们观察到22q11DS中DMN连接性中断，这与特发性自闭症和精神分裂症的报道一致。在22q11DS中，远程DMN连接性增强与社会功能改善相关。这些发现支持了该疾病症状发展的“发育性脱节”假说。
