Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.
Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.
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DOI：
10.1212/wnl.0000000000011597
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发表时间：
2021-03-16
期刊：
影响因子：
9.9
通讯作者：
van Eeghen AM
中科院分区：
文献类型：
--
作者：
Müller AR;Brands MMMG;van de Ven PM;Roes KCB;Cornel MC;van Karnebeek CDM;Wijburg FA;Daams JG;Boot E;van Eeghen AM
为了提高N-of-1研究在罕见遗传性神经发育障碍中的应用，我们系统地回顾了文献，并为未来的研究提出了建议。该系统评价方案已在普洛斯彼罗国际前瞻性系统评价注册（CRD42020154720）中注册。检索EMBASE和MEDLINE相关研究。使用标准报告指南和关键评估工具记录有关干预措施类型、结果测量、有效性、优势和局限性的信息。进行了定性和描述性分析。12项研究符合N-of-1纳入标准，包括单试验和系列试验。干预措施主要针对神经精神表现。主要优势是在大多数研究中使用个性化和临床相关的结果。由于使用有限的经过验证的和可推广的结果测量，通用性受到损害。N-of-1研究在罕见的遗传性神经发育障碍中偶有报道。正确执行N-of-1研究可能为罕见疾病的大规模随机对照试验提供强有力的替代方案，并在实践与科学之间架起一座急需的桥梁。我们为未来罕见遗传神经发育障碍的N-of-1研究提供建议，最终优化循证和个性化护理。
To improve the use of N-of-1 studies in rare genetic neurodevelopmental disorders, we systematically reviewed the literature and formulated recommendations for future studies. The systematic review protocol was registered in the PROSPERO International Prospective Register of Systematic Reviews (CRD42020154720). EMBASE and MEDLINE were searched for relevant studies. Information was recorded on types of interventions, outcome measures, validity, strengths, and limitations using standard reporting guidelines and critical appraisal tools. Qualitative and descriptive analyses were performed. Twelve studies met the N-of-1 inclusion criteria, including both single trials and series. Interventions were mainly directed to neuropsychiatric manifestations. Main strengths were the use of personalized and clinically relevant outcomes in most studies. Generalizability was compromised due to limited use of validated and generalizable outcome measures. N-of-1 studies are sporadically reported in rare genetic neurodevelopmental disorders. Properly executed N-of-1 studies may provide a powerful alternative to larger randomized controlled trials in rare disorders and a much needed bridge between practice and science. We provide recommendations for future N-of-1 studies in rare genetic neurodevelopmental disorders, ultimately optimizing evidence-based and personalized care.