焦虑症是SHANK病原体变异患者常见的精神病理性并发症:描述了五个新病例

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Carmen Manso-Bazus^1,2, Nino Spataro¹, Laura Plans^3,4,5

¹Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, 08208, Spain.

BMC psychiatry

|November 11, 2025

概括

SHANK基因中的致病变体与自闭症谱系障碍和神经发育障碍有关. 这项研究发现,泛性焦虑症是患有SHANK基因变异的患者常见的并发症.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
精神病学是一个精神病学.

背景情况:

SHANK基因家族变异与自闭症谱系障碍 (ASD) 和其他神经发育和神经精神疾病有关.
了解SHANK相关疾病的全谱对于诊断和管理至关重要.

研究的目的:

描述SHANK1,SHANK2和SHANK3.3中具有病原性变异的5名额外患者的神经发育,神经精神和异形特征.
在SHANK家族基因变异中识别一个共同的神经精神病学表型.

主要方法:

在115名患有轻度智力障碍/边缘智力功能和精神病并发症的患者 (年龄在6-18岁) 上进行了整体外基因组测序.
对患有SHANK基因变异的患者收集了详细的临床,神经发育,精神病理和形学数据.

主要成果:

在5名患者中发现了SHANK1,SHANK2和SHANK3的致病性内基因变异.
所有五名患者都表现出显著的语言和运动延迟以及ASD.
在四名患者中诊断出泛性焦虑障碍 (GAD),其中一人患有非特异性焦虑障碍.

结论:

报告了SHANK基因致病变体的5例新病例,突出了GAD作为一种普遍的精神病理并发症.
识别智力障碍儿童的遗传原因可以个性化临床管理和遗传咨询.
这项研究强调了与SHANK基因变异相关的神经精神病学表型,特别是GAD.

关键词:

这就是SHANK1的原因.这就是SHANK2的原因.这就是SHANK3的原因.一般性焦虑障碍是一种普遍性焦虑障碍.神经发育障碍是一种神经发育障碍.

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