Characterized by impairments in brain and central nervous system development, neurodevelopmental diseases causes are highly heterogeneous. Although many of these diseases are individually rare, collectively more than 3% of the children are reported to be affected with a type of neurodevelopmental diseases worldwide, and many remain undiagnosed even with current genomic tools. Identifying the genetic causes of these diseases allows better clinical management and expands our understanding of human neurodevelopment. Over the past decade, expansion of genomic sequencing and some methodologic improvements have improved molecular diagnostic yield as well as the discovery of novel genetic causes for wide spectrum of neurodevelopmental diseases. Here we review the current diagnostic workflow and propose ways of improving the diagnostic yield.

以大脑和中枢神经系统发育受损为特征，神经发育疾病的原因具有高度异质性。尽管这些疾病中有许多是个别罕见的，但据报道，全世界有超过 3% 的儿童患有某种类型的神经发育疾病，即使使用当前的基因组工具，许多儿童仍未确诊。确定这些疾病的遗传原因可以更好地进行临床管理并扩大我们对人类神经发育的理解。在过去的十年中，基因组测序的扩展和一些方法学的改进提高了分子诊断的产量，并发现了广谱神经发育疾病的新遗传原因。在这里，我们回顾了当前的诊断工作流程并提出了提高诊断率的方法。