In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review.
In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review.
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DOI：
10.1176/appi.ajp.21100992
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发表时间：
2023-01-01
影响因子：
17.7
通讯作者：
Sanders, Stephan J.
中科院分区：
文献类型：
--
作者：
Parellada, Mara;Andreu-Bernabeu, Alvaro;Burdeus, Monica;San Jose Caceres, Antonia;Urbiola, Elena;Carpenter, Linda L.;Kraguljac, Nina V.;McDonald, William M.;Nemeroff, Charles B.;Rodriguez, Carolyn I.;Widge, Alik S.;State, Matthew W.;Sanders, Stephan J.
对与自闭症谱系障碍(ASD)症状相关的反应生物标志物进行分类和评估，以改进临床试验。2020年4月，对Medline、Embase和Scope进行了系统评估。应用了七个标准来专注于原创性研究，其中包括与ASD症状一起测量的可量化反应生物标记物。包括评估生物标记物和ASD相关行为测量之间相关性的干预性研究或人体研究。5799个独立记录产生了280篇供审查的手稿，报告了940个生物标记物--其中755个是单一出版物独有的。最常用的是分子生物标志物，包括细胞因子、生长因子、氧化应激指标、神经递质和激素，其次是神经生理学(如脑电和眼球跟踪)、神经成像(如功能磁共振成像)和其他生理指标。研究具有高度的异质性，包括表型、人口统计学、所分析的组织和生物标记物检测方法。由于总样本量的中位数为，几乎所有综述研究都仅限于识别具有大效应大小的生物标记物。个人水平的数值和汇总统计数据的报告不一致，妨碍了大型分析和荟萃分析。在多项研究中分析的生物标记物产生的结果大多不一致，揭示了一种“复制危机”。目前还没有足够证据来指导ASD临床试验的反应生物标记物。这篇综述强调了ASD生物标记物研究取得决定性进展所必需的方法学要求：一致的实验设计、多重比较的校正、正式复制、样本水平数据的共享以及研究设计的预注册。对多个潜在生物标志物进行系统的“大数据”分析可能会加速发现。
To catalogue and evaluate response biomarkers correlated with autism spectrum disorder (ASD) symptoms to improve clinical trials. A systematic review of Medline, Embase, and Scopus was conducted in April 2020. Seven criteria were applied to focus on original research that includes quantifiable response biomarkers measured alongside ASD symptoms. Interventional studies or human studies that assessed the correlation between biomarkers and ASD-related behavioral measures were included. 5,799 independent records yielded 280 manuscripts for review that reported on 940 biomarkers – 755 of which were unique to a single publication. Molecular biomarkers were the most frequently assayed, including cytokines, growth factors, measures of oxidative stress, neurotransmitters, and hormones, followed by neurophysiology (e.g., electroencephalogram and eye-tracking), neuroimaging (e.g., fMRI), and other physiological measures. Studies were highly heterogeneous, including phenotype, demographics, tissues assayed, and methods for biomarker detection. With a median total sample size of 64, almost all of the reviewed studies were only powered to identify biomarkers with large effect sizes. Reporting of individual-level values and summary statistics was inconsistent, hampering mega- and meta-analysis. Biomarkers assayed in multiple studies yielded mostly inconsistent results, revealing a “replication crisis”. There is currently no response biomarker with sufficient evidence to inform ASD clinical trials. This review highlights methodological imperatives for ASD biomarker research necessary to make definitive progress: consistent experimental design, correction for multiple comparisons, formal replication, sharing of sample-level data, and preregistration of study designs. Systematic ‘big data’ analyses of multiple potential biomarkers could accelerate discovery.
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DOI：
10.1017/s1461145710000738
发表时间：
2011-04-01
影响因子：
4.8
作者：
Klein, Anders B.;Williamson, Rebecca;Aznar, Susana
通讯作者：
Aznar, Susana
影响因子：
15.8
作者：
Ioannidis, JPA
通讯作者：
Ioannidis, JPA
自闭症谱系障碍。
DOI：
10.1038/s41572-019-0138-4
发表时间：
2020-01-16
期刊：
Nature reviews. Disease primers
影响因子：
--
作者：
Lord C;Brugha TS;Charman T;Cusack J;Dumas G;Frazier T;Jones EJH;Jones RM;Pickles A;State MW;Taylor JL;Veenstra-VanderWeele J
通讯作者：
Veenstra-VanderWeele J
影响因子：
3.1
作者：
Jann K;Hernandez LM;Beck-Pancer D;McCarron R;Smith RX;Dapretto M;Wang DJ
通讯作者：
Wang DJ
影响因子：
10.6
作者：
Johnson EC;Border R;Melroy-Greif WE;de Leeuw CA;Ehringer MA;Keller MC
通讯作者：
Keller MC