背景：随着Rett综合征的临床试验正在进行中，有必要验证反映重要体征和症状的潜在补充结局指标.自主神经功能障碍,尤其是血管舒缩功能障碍,是可以开发生物标志物的一个潜在领域。
方法：在目前的研究中，26名患有Rett综合征（年龄62个月至39岁）的女性的手和脚的红外热图像，和17位没有知识分子的女性，收集遗传或神经系统疾病(年龄55个月至39岁).组间皮肤温度的差异，Rett综合征组皮肤温度测量的时间稳定性，评估了皮肤温度测量值与父母报告和研究人员评估的自主神经功能障碍指标之间的关系。
结果：组间差异显示Rett综合征组的手脚温度较低。随着时间的推移，手部温度测量值稳定，并且与父母报告的自主神经症状中度相关。脚温测量比手的温度变化更大，但与父母报告的自主神经症状具有更强的相关性。
结论：该结果为Rett综合征中手足皮肤温度测量的可靠性和有效性提供了初步支持。需要额外的研究来复制这些结果，并评估这些措施在较短时间尺度上的时间稳定性。
As clinical trials for Rett syndrome are underway, there is a need to validate potential supplemental outcome measures that reflect important signs and symptoms. Autonomic dysfunction, particularly vasomotor dysfunction, is one potential area for which biomarkers could be developed.
In the current study, infrared thermal images of hands and feet from 26 females with Rett syndrome (aged 62 months to 39 years), and 17 females without known intellectual, genetic or neurological disorders (aged 55 months to 39 years) were collected. Between-group differences in skin temperature, and temporal stability of skin temperature measures in the Rett syndrome group, and relationships between skin temperature measures and parent-reported and researcher-evaluated indicators of autonomic dysfunction were evaluated.
Between-group differences showed lower hand and foot temperatures in the Rett syndrome group. Hand temperature measurements were stable over time and were moderately correlated with parent-reported autonomic symptoms. Foot temperature measurements were more variable than hand temperatures but showed stronger correlations with parent-reported autonomic symptoms.
The results provide preliminary support for the reliability and validity of hand and foot skin temperature measures in Rett syndrome. Additional research is needed to replicate these results and evaluate the temporal stability of these measures over shorter time scales.
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