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遗传或其他病因不应改变脑瘫的临床诊断。

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

作者信息

MacLennan Alastair H, Lewis Sara, Moreno-De-Luca Andres, Fahey Michael, Leventer Richard J, McIntyre Sarah, Ben-Pazi Hilla, Corbett Mark, Wang Xiaoyang, Baynam Gareth, Fehlings Darcy, Kurian Manju A, Zhu Changlian, Himmelmann Kate, Smithers-Sheedy Hayley, Wilson Yana, Ocaña Carlos Santos, van Eyk Clare, Badawi Nadia, Wintle Richard F, Jacobsson Bo, Amor David J, Mallard Carina, Pérez-Jurado Luis A, Hallman Mikko, Rosenbaum Peter J, Kruer Michael C, Gecz Jozef

机构信息

1 Robinson Research Institute, University of Adelaide, Adelaide, Australia.

2 Barrow Neurological Institute, Phoenix Children's Hospital and Departments of Child Health, Cellular & Molecular Medicine, Neurology and Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.

出版信息

J Child Neurol. 2019 Jul;34(8):472-476. doi: 10.1177/0883073819840449. Epub 2019 Apr 9.

Abstract

High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as "cerebral palsy." This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology.

摘要

高通量测序正在发现许多脑瘫患者中可能的致病基因变异。一些研究人员认为,这改变了脑瘫的临床诊断,这些个体应从该诊断类别中剔除。脑瘫是一种根据临床体征而非病因进行诊断的神经发育障碍。所有归因于胎儿和婴儿发育中大脑发生的干扰而导致的非进行性永久性运动和姿势障碍都可被描述为“脑瘫”。无论病因如何,脑瘫的这一定义都不应改变。原因包括脑瘫登记册的稳定性、实用性和准确性、直接获得服务、专门为脑瘫家庭提供的财政和社会支持,以及社区对临床诊断的理解。其他神经发育障碍,例如癫痫,在发现基因组病因时并未改变诊断。脑瘫的临床诊断应保持不变,应促使进行适当的基因研究,随后可根据病因进行亚分类。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5411/6582263/87dc45d45c30/10.1177_0883073819840449-fig1.jpg

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