<br>与 10 种遗传性神经发育障碍相关的神经发育表型的描述：范围界定综述,Clinical Genetics

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与 10 种遗传性神经发育障碍相关的神经发育表型的描述：范围界定综述
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-11-11 , DOI: 10.1111/cge.13882
Ciara Hanly ₁ , Harshil Shah ₁ , Ping Yee Billie Au _{1,

2,

3} , Kara Murias _{1,

3,

4,

5}

Affiliation

神经发育障碍 (NDD) 是一组异质性疾病，包括智力障碍、整体发育迟缓、自闭症谱系障碍和注意力缺陷多动障碍。基因诊断技术的进步已经鉴定出许多 NDD 相关基因，但受影响个体的认知和发育结果的报告却各不相同。本次范围审查的目的是综合与从大规模测序研究中鉴定出的 10 个新出现的复发性 NDD 相关基因中具有致病性变异的个体的发育结果相关的可用信息； ADNP、ANKRD11、ARID1B、CHD2、CHD8、CTNNB1、DDX3X、DYRK1A、SCN2A 和 SYNGAP1。经过全面检索，选择了 260 篇报告神经发育测量或诊断的文章。我们确定了每种遗传性 NDD 的发育结果范围，包括智力障碍的患病率、ADHD 和自闭症等共病 NDD 的频率，以及常见报告的有助于诊断和治疗的医疗问题。我们对这些条件的自然历史的理解存在重大差距。未来的研究重点是评估障碍、开发适合遗传性 NDD 长期结果的改良评估工具以及收集纵向数据，这将增加对这些疾病预后的了解，并为治疗评估提供信息。

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Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

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.

更新日期：2020-11-11

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