Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
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DOI：
10.1177/08830738231188753
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发表时间：
2023-08
影响因子：
1.9
通讯作者：
中科院分区：
文献类型：
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古铁雷斯综合征（AGS）是一种罕见的遗传性疾病，其特征是一系列运动能力。虽然AGS严重程度评分有利于严重受影响的个体，但定义跨AGS谱的测量功能的工具作为未来临床试验的潜在结局评估的需求尚未得到满足。对受AGS影响的个体（n=71）进行粗大运动功能测量-88（GMFM-88）和AGS严重程度量表。我们通过基因型表征了性能变异性。计算了GMFM-88的衍生版本，包括GMFM-66、GMFM-66项目集（GMFM-66 IS）和GMFM-66基底和上限（GMFM-66 BC）。AGS队列分为重度（AGS评分<4）或轻度（≥4）。AGS量表的表现与GMFM-88总分高度相关（斯皮尔曼相关性：R=0.91）。为了评估基因型亚组内GMFM-88的变异性，比较了四分位距（IQR）。TREX 1队列中GMFM-88性能的变异性最小，而SAMHD 1队列的IQR最大（4.23 vs 81.8）。地板效应显著，大多数评价评分低于20%（n=46，64.79%），特别是在TREX 1和RNASEH 2队列中。GMFM-66、GMFM-66 IS和GMFM-66 BC的性能与完整的GMFM-88高度相关。AGS人群代表了广泛的粗大运动技能。这项工作将GMFM-88确定为AGS人群亚组的潜在临床结局评估，但强调需要对反映该人群中观察到的不同粗大运动功能（包括低运动功能）的结局指标进行额外验证。当时间受到资源或患者耐力的限制时，较短版本的GMFM-88可能是合理的替代方案。
Aicardi Goutières Syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the AGS severity score favors severely impacted individuals, there is an unmet need to define tools measuring function across the AGS spectrum as potential outcome assessments for future clinical trials. Gross Motor Function Measure-88 (GMFM-88) and AGS Severity Scale were administered in individuals affected by AGS (n=71). We characterized the performance variability by genotype. Derived versions of the GMFM-88, including the GMFM-66, GMFM-66 Item Set (GMFM-66IS), and GMFM-66 Basal&Ceiling (GMFM-66BC) were calculated. The AGS cohort was divided into severe (AGS score <4) or attenuated (≥4). Performance on the AGS Scale highly correlated with total GMFM-88 scores (Spearman Correlation: R=0.91). To assess variability of the GMFM-88 within genotypic subcohorts, interquartile ranges (IQR) were compared. GMFM-88 performance in the TREX1-cohort had least variability while the SAMHD1-cohort had the largest IQR (4.23 vs 81.8). Floor effect was prominent, with most evaluations scoring below 20% (n=46, 64.79%), particularly in TREX1-and RNASEH2-cohorts. Performance by the GMFM-66, GMFM-66IS, and GMFM-66BC highly correlated with the full GMFM-88. The AGS population represents a broad range of gross motor skills. This work identified the GMFM-88 as a potential clinical outcome assessment in subsets of the AGS population but underscores the need for additional validation of outcome measures reflective of the diverse gross motor function observed in this population, including low motor function. When time is limited by resources or patient endurance, shorter versions of the GMFM-88 may be a reasonable alternative.
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