昼夜唾液皮质醇模式、用药与雷特综合征社区样本行为表型特征的相关性。
Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome.
机构信息
Breanne J. Byiers and Ameante Payen, University of Minnesota.
Timothy Feyma, Gillette Children's Specialty Healthcare, St. Paul, Minnesota.
出版信息
Am J Intellect Dev Disabil. 2020 Sep 1;125(5):353-368. doi: 10.1352/1944-7558-125.5.353.
Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting from mutations of the MECP2 gene. Hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and abnormal stress responses have been observed in animal models of RTT, but little is known about HPA axis function among individuals with RTT. Diurnal salivary cortisol patterns from 30 females with RTT were examined in relation to mutation type, medication use, and features of the RTT behavioral phenotype. Cortisol patterns were significantly related to mutation severity, anticonvulsant medication status, and bruxism (tooth grinding). This study provides preliminary support for the hypothesis that RTT may be at risk for outcomes associated with aberrant HPA axis function, and that this risk may be mediated by mutation type.
雷特综合征（RTT）是一种严重的神经发育障碍，由 MECP2 基因突变引起。在 RTT 的动物模型中观察到下丘脑-垂体-肾上腺（HPA）轴的过度活跃和异常的应激反应，但对 RTT 个体的 HPA 轴功能知之甚少。本研究分析了 30 名女性 RTT 患者的唾液皮质醇昼夜节律与突变类型、用药情况和 RTT 行为表型特征的关系。皮质醇模式与突变严重程度、抗惊厥药物状态和磨牙（磨牙）显著相关。本研究初步支持 RTT 可能存在与 HPA 轴功能异常相关的结果的风险的假设，并且这种风险可能通过突变类型介导。
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