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.

中文翻译：

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雷特综合征社区样本中每日唾液皮质醇模式、药物使用和行为表型特征之间的关联。

雷特综合征 (RTT) 是一种由 MECP2 基因突变引起的严重神经发育障碍。在 RTT 动物模型中观察到下丘脑-垂体-肾上腺 (HPA) 轴过度活跃和异常应激反应，但对 RTT 个体中 HPA 轴功能知之甚少。研究人员检查了 30 名 RTT 女性的每日唾液皮质醇模式与突变类型、药物使用和 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症（磨牙）显着相关。这项研究为以下假设提供了初步支持：RTT 可能面临与 HPA 轴功能异常相关的结果风险，并且这种风险可能是由突变类型介导的。