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制定CHARGE综合征检查表:全生命周期(从头到脚)的健康监测。

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).

作者信息

Trider Carrie-Lee, Arra-Robar Angela, van Ravenswaaij-Arts Conny, Blake Kim

机构信息

Department of Pediatrics, Kingston General Hospital, Queen's University, Ontario, Canada.

Department of Pediatrics, IWK Health Center, Dalhousie University, Nova Scotia, Canada.

出版信息

Am J Med Genet A. 2017 Mar;173(3):684-691. doi: 10.1002/ajmg.a.38085. Epub 2017 Feb 4.

DOI:10.1002/ajmg.a.38085
PMID:28160409
Abstract

Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome. These are the first comprehensive guidelines across the lifespan of CHARGE syndrome that suggest a consistent approach to medical surveillance, investigations, and management for the physician and the multi-disciplinary team caring for these individuals. We anticipate that these guidelines will provide improvements in care by preventing missed diagnoses, allowing for anticipatory counseling, and facilitating early referral for interventions and treatments. © 2017 Wiley Periodicals, Inc.

摘要

对于患有CHARGE综合征的个体,健康监督和管理方面的考量往往很复杂,采取综合方法至关重要。加拿大大西洋地区CHARGE综合征团队制定了一份按身体系统和年龄编排的检查表,以帮助医疗服务提供者对这些个体进行持续护理。该检查表采用改良德尔菲法进行了定性评估,并广泛征求了专业医疗从业者、家长以及CHARGE综合征患者的意见。这些是CHARGE综合征全生命周期内的首份全面指南,为医生及照顾这些个体的多学科团队提供了关于医疗监测、检查和管理的一致方法。我们预计,这些指南将通过防止漏诊、进行预防性咨询以及促进早期干预和治疗转诊来改善护理。© 2017威利期刊公司

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