Rare copy number variants associated with increased risk for neurodevelopmental and psychiatric disorders (referred to as ND-CNVs) are characterized by heterogeneous phenotypes thought to share a considerable degree of overlap. Altered neural integration has often been linked to psychopathology and is a candidate marker for potential convergent mechanisms through which ND-CNVs modify risk; however, the rarity of ND-CNVs means that few studies have assessed their neural correlates. Here, we used magnetoencephalography (MEG) to investigate resting-state oscillatory connectivity in a cohort of 42 adults with ND-CNVs, including deletions or duplications at 22q11.2, 15q11.2, 15q13.3, 16p11.2, 17q12, 1q21.1, 3q29, and 2p16.3, and 42 controls. We observed decreased connectivity between occipital, temporal, and parietal areas in participants with ND-CNVs. This pattern was common across genotypes and not exclusively characteristic of 22q11.2 deletions, which were present in a third of our cohort. Furthermore, a data-driven graph theory framework enabled us to successfully distinguish participants with ND-CNVs from unaffected controls using differences in node centrality and network segregation. Together, our results point to alterations in electrophysiological connectivity as a putative common mechanism through which genetic factors confer increased risk for neurodevelopmental and psychiatric disorders.

与神经发育和精神疾病风险增加相关的罕见拷贝数变异（称为 ND-CNV）的特征是异质表型，被认为具有相当程度的重叠。神经整合的改变通常与精神病理学有关，并且是 ND-CNV 改变风险的潜在收敛机制的候选标志；然而，ND-CNV 的稀有性意味着很少有研究评估其神经相关性。在这里，我们使用脑磁图 (MEG) 来研究 42 名 ND-CNV 成年人的静息态振荡连接，包括 22q11.2、15q11.2、15q13.3、16p11.2、17q12、1q21 的缺失或重复.1、3q29、2p16.3 和 42 对照。我们观察到患有 ND-CNV 的参与者枕叶、颞叶和顶叶区域之间的连接性降低。这种模式在各个基因型中都很常见，并且不完全是 22q11.2 缺失的特征，而我们队列中三分之一的人都存在这种缺失。此外，数据驱动的图论框架使我们能够利用节点中心性和网络隔离的差异成功区分具有 ND-CNV 的参与者与未受影响的控制。总之，我们的结果表明，电生理连接的改变是一种假定的共同机制，遗传因素通过该机制增加了神经发育和精神疾病的风险。