Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability.
Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability.
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DOI：
10.1186/s13229-021-00425-x
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发表时间：
2021-02-25
期刊：
影响因子：
6.2
通讯作者：
Nelson CA
中科院分区：
文献类型：
--
作者：
Wilkinson CL;Nelson CA
脆性X综合征（FXS）是最常见的遗传性智力残疾形式，缺乏稳健和可靠的临床生物标志物，限制了临床治疗的成功转化。虽然许多药物在FXS小鼠模型中显示出逆转突触和行为表型的前景，但没有一种药物在人类中表现出临床疗效。脑电图（EEG）测量已被确定为候选生物标志物，因为FXS成人和FXS小鼠模型的EEG记录始终表现出静息状态和任务相关活动的改变。然而，这些EEG差异的发育时间尚不清楚，因为迄今为止EEG研究还没有集中在患有FXS的幼儿身上。此外，了解EEG差异如何与FXS的核心症状相关对于成功使用EEG作为生物标志物至关重要，并可能提高我们对该疾病的理解。从FXS男孩收集静息态EEG，FXS男孩具有Fmr 1的完全突变（2.5-7岁，n = 11），并与年龄匹配（n = 12）和认知匹配（n = 12）的典型发育男孩进行比较。功率谱（包括非周期性和周期性的成分）进行了比较，使用非参数集群为基础的排列测试。30和50赫兹伽马功率和认知，语言和行为的措施之间的关联进行了评估，使用皮尔逊相关性和线性回归与年龄作为协变量。FXS参与者在多个大脑区域的β/γ范围（~ 25-50 Hz）内显示出增加的功率。非周期性（1/f）斜率的降低和β/γ周期性活动的增加都有助于高频功率的显著增加。在FXS组中，由非周期性成分驱动的伽马功率增加与更好的语言能力相关。伽马功率和父母报告的行为挑战，感觉超敏反应，或适应性行为的措施之间没有观察到任何关联。该研究的样本量很小，尽管与其他罕见遗传性疾病的人类研究相当。调查结果也仅限于所研究年龄范围内的男性。这项研究中的FXS年轻男孩的静息状态EEG测量发现了先前在成人和小鼠模型中报告的伽马功率的类似增加。观察到的静息状态非周期性伽马功率和语言发育之间的正相关支持的假设，在一些EEG测量的改变可能反映正在进行的补偿机制。在线版本包含补充材料，可通过10.1186/s13229-021-00425-x获得。
The lack of robust and reliable clinical biomarkers in Fragile X Syndrome (FXS), the most common inherited form of intellectual disability, has limited the successful translation of bench-to-bedside therapeutics. While numerous drugs have shown promise in reversing synaptic and behavioral phenotypes in mouse models of FXS, none have demonstrated clinical efficacy in humans. Electroencephalographic (EEG) measures have been identified as candidate biomarkers as EEG recordings of both adults with FXS and mouse models of FXS consistently exhibit alterations in resting state and task-related activity. However, the developmental timing of these EEG differences is not known as thus far EEG studies have not focused on young children with FXS. Further, understanding how EEG differences are associated with core symptoms of FXS is crucial to successful use of EEG as a biomarker, and may improve our understanding of the disorder. Resting-state EEG was collected from FXS boys with full mutation of Fmr1 (2.5–7 years old, n = 11) and compared with both age-matched (n = 12) and cognitive-matched (n = 12) typically developing boys. Power spectra (including aperiodic and periodic components) were compared using non-parametric cluster-based permutation testing. Associations between 30 and 50 Hz gamma power and cognitive, language, and behavioral measures were evaluated using Pearson correlation and linear regression with age as a covariate. FXS participants showed increased power in the beta/gamma range (~ 25–50 Hz) across multiple brain regions. Both a reduction in the aperiodic (1/f) slope and increase in beta/gamma periodic activity contributed to the significant increase in high-frequency power. Increased gamma power, driven by the aperiodic component, was associated with better language ability in the FXS group. No association was observed between gamma power and parent report measures of behavioral challenges, sensory hypersensitivities, or adaptive behaviors. The study sample size was small, although comparable to other human studies in rare-genetic disorders. Findings are also limited to males in the age range studied. Resting-state EEG measures from this study in young boys with FXS identified similar increases in gamma power previously reported in adults and mouse models. The observed positive association between resting state aperiodic gamma power and language development supports hypotheses that alterations in some EEG measures may reflect ongoing compensatory mechanisms. The online version contains supplementary material available at 10.1186/s13229-021-00425-x.
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