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Abstract：
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions including intellectual disability, global developmental delay, autism spectrum disorder, and attention deficit hyperactivity disorder. Advances in genetic diagnostic technology have led to the identification of a number of NDD-associated genes, but reports of cognitive and developmental outcomes in affected individuals have been variable. The objective of this scoping review is to synthesize available information pertaining to the developmental outcomes of individuals with pathogenic variants in ten emerging recurrent NDD-associated genes identified from large scale sequencing studies; ADNP, ANKRD11, ARID1B, CHD2, CHD8, CTNNB1, DDX3X, DYRK1A, SCN2A, and SYNGAP1. After a comprehensive search, 260 articles were selected that reported on neurodevelopmental measures or diagnoses. We identify the spectrum of developmental outcomes for each genetic NDD, including prevalence of intellectual disability, frequency of co-morbid NDDs such as ADHD and autism, and commonly reported medical issues that can help inform diagnosis and treatment. There are significant gaps in our understanding of the natural history of these conditions. Future research focusing on barriers to assessment, the development of modified assessment tools appropriate for long-term outcomes in genetic NDD, and collection of longitudinal data will increase understanding of prognosis in these conditions and inform evaluations of treatment.
摘要：
神经发育障碍（NDD）是一组异质性的疾病，包括智力障碍，全球发育迟缓，自闭症谱系障碍，注意力缺陷多动障碍.基因诊断技术的进步导致了许多NDD相关基因的鉴定，但是有关受影响个体的认知和发育结果的报告是可变的。本范围审查的目的是综合与从大规模测序研究中确定的十个新出现的复发性NDD相关基因中致病变异的个体的发育结果有关的可用信息；ADNP，ANKRD11,ARID1B,CHD2,CHD8,CTNNB1,DDX3X,DYRK1A,SCN2A,和SYNGAP1。经过全面搜索,选择了260篇报道神经发育措施或诊断的文章。我们确定了每个遗传NDD的发育结果谱，包括智力残疾的患病率，多动症和自闭症等共病NDD的频率，以及通常报告的医疗问题，可以帮助诊断和治疗。我们对这些条件的自然史的理解存在重大差距。未来的研究重点是评估的障碍，开发适用于遗传NDD长期结果的改良评估工具，纵向数据的收集将增加对这些疾病预后的了解，并为治疗评估提供信息。
