评估一种罕见的神经发育障碍中的沟通障碍:SCN2A临床试验准备研究
Anne T Berg1, Amanda N Nili1, Lindsey Evans1
1FamilieSCN2A Foundation (ATB, SME, LSM), Longmeadow, MA; Department of Medical and Social Sciences (ANN, AJK), Northwestern University Feinberg School of Medicine; Department of Psychology (LE), Illinois Institute of Technology; Department of Psychology (KCP, A.J. Kaiser AJEK), University of Illinois at Chicago; Institute for Innovations in Developmental Sciences (ELA), Northwestern University, Chicago, IL; and CLIRINX (GN), Dublin, Ireland.
标准化得分不适合在SCN2A相关疾病 (SCN2A-RDs) 中评估沟通. 替代评分方法和评估表明SCN2A-RDs临床试验具有更好的测量特性.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 临床试验 临床试验
背景情况:
- 与SCN2A相关的疾病 (SCN2A-RDs) 会导致严重障碍,包括沟通缺陷.
- 这些缺陷代表了临床试验的潜在非扣押结果.
研究的目的:
- 评估用于评估SCN2A-RD参与者的沟通的临床仪器的适用性.
- 为了比较标准化和替代性评分方法,包括年龄范围之外的措施.
主要方法:
- 这是一项涉及SCN2A-RDs儿童的父母的横截面和纵向研究.
- 使用了维尼兰适应性行为量表 (VABS-3),ABAS,沟通矩阵和CSBS.
- 分析了地板/天花板效应,可靠性,歧视性和对临床方面的敏感性.
主要成果:
- 84%的参与者是无效的沟通者;标准化得分显示了显著的底层效应和差的歧视.
- 替代分数 (例如,Vineland GSV,ABAS,Matrix,CSBS原始分数) 具有最小的底层效应和更好的歧视.
- 替代分数对的严重程度很敏感,与标准分数不同,标准分数在纵向下降.
结论:
- 根据年龄标准化的得分 (例如,Vineland SS) 由于地板效应和不敏感性,不适合SCN2A-RD临床试验的目的.
- 其他评分方法和评估表明SCN2A-RDs的测量概况优越.
- 在SCN2A-RD和类似罕见疾病的未来精密医学试验中,应考虑GSV和替代评分.
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