神经发育障碍基因检测社会实践指南现状调查。

IF 8.1 1区医学 Q1 CLINICAL NEUROLOGY Annals of Neurology Pub Date : 2024-09-25 DOI:10.1002/ana.27045

Siddharth Srivastava MD, Jordan J. Cole MD, Julie S. Cohen ScM, Maya Chopra MBBS, FRACP, Hadley Stevens Smith PhD, MPSA, Matthew A. Deardorff MD, PhD, Ernest Pedapati MD, MS, FAAP, Brian Corner MS, Julia S. Anixt MD, Shafali Jeste MD, Mustafa Sahin MD, PhD, Christina A. Gurnett MD, PhD, Colleen A. Campbell PhD, MS, the Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing

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引用次数: 0

摘要

对神经发育障碍（NDD）患者进行基因检测对于诊断、医疗管理和获得精准治疗至关重要。由于基因检测方法发展迅速，专业协会的实践指南在指导临床治疗方面发挥着至关重要的作用；然而，在这些指南的制定和公平实施方面存在着一些挑战。在此次范围界定审查中，我们评估了美国专业协会有关不明原因的全球发育迟缓、智力障碍、自闭症谱系障碍和脑瘫基因检测指南的现状。我们描述了已发现的几个不足之处，并认为有必要制定一个统一的、经常更新的、易于获取的跨专业学会指南。ann neurol 2024.

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Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy. We describe several identified shortcomings and argue the need for a unified, frequently updated, and easily-accessible cross-specialty society guideline. ANN NEUROL 2024;96:900–913

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来源期刊

Annals of Neurology 医学-临床神经学

CiteScore

18.00

自引率

1.80%

发文量

270

审稿时长

3-8 weeks

期刊介绍： Annals of Neurology publishes original articles with potential for high impact in understanding the pathogenesis, clinical and laboratory features, diagnosis, treatment, outcomes and science underlying diseases of the human nervous system. Articles should ideally be of broad interest to the academic neurological community rather than solely to subspecialists in a particular field. Studies involving experimental model system, including those in cell and organ cultures and animals, of direct translational relevance to the understanding of neurological disease are also encouraged.