基于共识的GNAO1相关疾病的随访和治疗注册表
Larissa R Heideman1,2,3,4, Nicole I Wolf5,6, Moritz Thiel7
1Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Child Neurology, Amsterdam, Netherlands.
Developmental medicine and child neurology
|February 14, 2026
概括
在17个国际功能,残疾和健康分类 (ICF) 领域以及GNAO1相关疾病注册表的26个评估工具上达成共识. 这种协调有助于自然历史研究和临床试验.
科学领域:
- 神经学 神经学
- 遗传学 遗传学是一种遗传学.
- 康复医学 康复医学 康复医学
背景情况:
- 与GNAO1相关的疾病需要标准化的随访和治疗方案.
- 现有的注册表缺乏统一的功能和评估数据收集.
研究的目的:
- 为GNAO1相关疾病登记处建立基于共识的功能领域和评估工具的建议.
- 促进GNAO1相关疾病国际登记册的协调.
主要方法:
- 一种混合方法的方法,包括系统的文献搜索,调查和实时的Delphi程序.
- 使用国际功能,残疾和健康分类 (ICF) 作为框架.
- 参与了由27名医疗保健专业人员和10名家长组成的国际专家小组.
主要成果:
- 在17个ICF领域和26个评估工具上达成共识.
- 建议侧重于"身体结构和功能"和"活动和参与"的组成部分.
- 德尔菲程序涉及67个来自文献和调查的陈述.
结论:
- 基于共识的ICF领域和工具对于协调GNAO1注册表至关重要.
- 标准化将提高自然历史研究和临床试验的质量.
- 这项工作为GNAO1相关疾病的一致数据收集提供了基础.
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