With growing awareness of problems with replicability and reproducibility within the field of genetic syndrome research, we outline why and how, as a field, we can collectively reform our practice with the goal of research improvement. We advocate that our research is of most impact when researchers investigate how developmental pathways and phenotypic profiles unfold. However, this neuroconstructivist approach and more traditional approaches bring many challenges, not least the problem of statistical power. Here, we outline the challenges to research in our field, and suggest solutions. In recognition that solutions can require substantial resource, we have also included less resource-intensive solutions where possible. The challenges and solutions discussed include sample size, individual differences, cross-disorder comparisons, multi-disciplinary expertise, measurement sensitivity and longitudinal data. Key recommendations include transparency and collaboration. For our field to produce rigorous, replicable research, researchers should strive to present protocols and data transparently (where possible) and collaborate to collect (multi-disciplinary) data as a collective effort.

中文翻译：

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遗传综合征、神经建构主义和可复制研究；挑战和未来方向

随着人们越来越意识到遗传综合征研究领域的可复制性和再现性问题，我们概述了为什么以及如何作为一个领域，我们可以集体改革我们的实践，以提高研究的目标。我们主张，当研究人员调查发育途径和表型谱如何展开时，我们的研究会产生最大的影响。然而，这种神经建构主义方法和更传统的方法带来了许多挑战，尤其是统计能力的问题。在这里，我们概述了我们领域研究面临的挑战，并提出了解决方案。认识到解决方案可能需要大量资源，我们还在可能的情况下包括了资源密集度较低的解决方案。讨论的挑战和解决方案包括样本量、个体差异、交叉疾病比较、多学科专业知识、测量灵敏度和纵向数据。主要建议包括透明度和协作。为了使我们的领域进行严谨、可复制的研究，研究人员应努力透明地（在可能的情况下）呈现协议和数据，并作为集体努力协作收集（多学科）数据。