Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
J Child Neurol. 2023 May;38(6-7):466-477. doi: 10.1177/08830738231177386. Epub 2023 Jun 1.
Collectively, neurodevelopmental disorders are highly prevalent, but more than a third of neurodevelopmental disorders have an identifiable genetic etiology, each of which is individually rare. The genes associated with neurodevelopmental disorders are often involved in early brain development, neuronal signaling, or synaptic plasticity. Novel treatments for many genetic neurodevelopmental disorders are being developed, but disease-relevant clinical outcome assessments and biomarkers are limited. Electroencephalography (EEG) is a promising noninvasive potential biomarker of brain function. It has been used extensively in epileptic disorders, but its application in neurodevelopmental disorders needs further investigation. In this review, we explore the use of EEG in 3 of the most prevalent genetic neurodevelopmental disorders-Angelman syndrome, Rett syndrome, and fragile X syndrome. Quantitative analyses of EEGs, such as power spectral analysis or measures of connectivity, can quantify EEG signatures seen on qualitative review and potentially correlate with phenotypes. In both Angelman syndrome and Rett syndrome, increased delta power on spectral analysis has correlated with clinical markers of disease severity including developmental disability and seizure burden, whereas spectral power analysis on EEG in fragile X syndrome tends to demonstrate abnormalities in gamma power. Further studies are needed to establish reliable relationships between quantitative EEG biomarkers and clinical phenotypes in rare genetic neurodevelopmental disorders.
总体而言，神经发育障碍的发病率很高，但超过三分之一的神经发育障碍具有可识别的遗传病因，每种病因都很少见。与神经发育障碍相关的基因通常参与早期大脑发育、神经元信号传递或突触可塑性。许多遗传性神经发育障碍的新疗法正在开发中，但与疾病相关的临床结果评估和生物标志物有限。脑电图 (EEG) 是一种有前途的非侵入性潜在脑功能生物标志物。它已在癫痫疾病中广泛使用，但在神经发育障碍中的应用仍需要进一步研究。在这篇综述中，我们探讨了 EEG 在三种最常见的遗传性神经发育障碍中的应用——安格曼综合征、雷特综合征和脆性 X 综合征。EEG 的定量分析，如功率谱分析或连通性测量，可以量化定性评估中看到的 EEG 特征，并可能与表型相关。在安格曼综合征和雷特综合征中，频谱分析中 delta 功率的增加与包括发育障碍和癫痫发作负担在内的疾病严重程度的临床标志物相关，而脆性 X 综合征中的 EEG 频谱功率分析往往显示出伽马功率异常。需要进一步的研究来建立罕见遗传性神经发育障碍中定量 EEG 生物标志物与临床表型之间的可靠关系。
