Department of Educational Psychology, University of Minnesota, Minneapolis, MN, USA.
Gillette Children's Specialty Healthcare, St. Paul, MN, USA.
J Intellect Disabil Res. 2023 Apr;67(4):387-395. doi: 10.1111/jir.13010. Epub 2023 Feb 6.
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.
随着雷特综合征的临床试验正在进行,有必要验证反映重要体征和症状的潜在补充结局指标。自主功能障碍,特别是血管运动功能障碍,是可能开发生物标志物的一个潜在领域。
在目前的研究中,从 26 名患有雷特综合征的女性(年龄 62 个月至 39 岁)和 17 名无已知智力、遗传或神经障碍的女性(年龄 55 个月至 39 岁)的手部和足部采集了红外热图像。评估了组间皮肤温度差异、雷特综合征组皮肤温度测量的时间稳定性,以及皮肤温度测量与家长报告和研究者评估的自主功能障碍指标之间的关系。
组间差异显示雷特综合征组的手部和足部温度较低。手部温度测量在时间上稳定,与家长报告的自主症状中度相关。足部温度测量比手部温度更不稳定,但与家长报告的自主症状相关性更强。
研究结果初步支持了手部和足部皮肤温度测量在雷特综合征中的可靠性和有效性。需要进一步研究来复制这些结果,并评估这些措施在更短时间尺度上的时间稳定性。