目的:AicardiGoutières综合征(AGS)是I型干扰素病,其特征是严重的神经系统损害。尽管许多患有AGS的儿童表现出运动和表达语言障碍,接受性语言障碍的程度是未知的。我们试图使用评估工具来描述受AGS影响的儿童的认知功能,这些工具减少了对运动能力的依赖,并将认知测试结果与总体严重程度和父母对适应行为的评估进行了比较。
方法:我们进行了一项横断面研究。在费城儿童医院招募儿童作为髓鞘疾病生物储存库项目的一部分。我们纳入了确诊为AGS的个体。我们管理了莱特国际绩效量表,第三版(Leiter-3),和Vineland适应行为量表,第三版(VABS-3),在研究遭遇的背景下。运动技能按AGS严重程度量表移动性水平进行分类。描述性统计和Spearman的等级相关性用于比较评估。使用Mann-Whitney和Kruskal-Wallis测试以及Dunn的多重比较测试进行校正,以比较移动性组之间的测试性能。
结果:在57名儿童中捕获了认知和适应性行为表现。相遇时的平均年龄为8.51(SD5.15)岁。中位数(IQR)Leiter-3评分为51(四分位距[IQR]60),57人中有20人(35%)服用失败。在VABS-3上,运动域(中位数29,IQR36.25)比通讯(中位数50,IQR52)受到的影响更大,日常生活技能(中位数52,IQR31),和社会化(中位数54,IQR40)域(p<0.0001)。AGS量表与VABS-3(r=0.86,p<0.0001)和Leiter-3(r=0.87,p<0.0001)相关。VABS-3域与Leiter-3之间存在相关性(r范围0.83-0.97)。粗电机和精电机类别,分别,与VABS-3(H=39.37,p<0.0001;U=63,p<0.0001)和Leiter-3(H=40.43,p<0.0001;U=66,p<0.0001)相关。在AGS量表的每个粗电机和细电机类别中,得分在正常智商范围内的儿童子集。
结论:父母通过VABS-3评估功能与直接评估的性能指标相关。我们的数据强调了VABS-3和Leiter-3作为评估AGS心理测量功能的工具的潜在价值。随着对我们病人能力的深入了解,我们可以更好地指导临床医生和家庭提供适当的支持和个性化的干预措施,使患有脑白质营养不良的儿童能够最大限度地发挥他们的沟通和教育潜力.
OBJECTIVE: Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of receptive language impairment is uncharacterized. We sought to characterize cognitive function in AGS-affected children using assessment tools with reduced dependence on motor abilities and compare cognitive testing outcomes with overall severity and parental assessment of adaptive behavior.
METHODS: We performed a cross-sectional study. Children were recruited as part of the Myelin Disorders Biorepository Project at the Children\'s Hospital of Philadelphia. We included individuals with a confirmed diagnosis of AGS. We administered the Leiter International Performance Scale, third edition (Leiter-3), and the Vineland Adaptive Behavior Scale, third edition (VABS-3), in the context of research encounters. Motor skills were categorized by AGS Severity Scale mobility levels. Descriptive statistics and Spearman\'s rank correlation were used to compare assessments. Mann-Whitney and Kruskal-Wallis tests with correction with Dunn\'s multiple comparison test were used to compare test performance between mobility groups.
RESULTS: Cognitive and adaptive behavior performance was captured in 57 children. The mean age at encounters was 8.51 (SD 5.15) years. The median (IQR) Leiter-3 score was 51 (interquartile range [IQR] 60), with administration failure in 20 of 57 (35%) individuals. On the VABS-3, the Motor Domain (median 29, IQR 36.25) was more impacted than the Communication (median 50, IQR 52), Daily Living Skills (median 52, IQR 31), and Socialization (median 54, IQR 40) Domains (p < 0.0001). The AGS Scale correlated with VABS-3 (r = 0.86, p < 0.0001) and Leiter-3 (r = 0.87, p < 0.0001). There was correlation between VABS-3 Domains and Leiter-3 (r-range 0.83-0.97). Gross motor and fine motor categories, respectively, correlated with VABS-3 (H = 39.37, p < 0.0001; U = 63, p < 0.0001) and Leiter-3 (H = 40.43, p < 0.0001; U = 66, p < 0.0001). Within each gross motor and fine motor category of the AGS Scale, a subset of children scored within normal IQ range.
CONCLUSIONS: Parental assessment of function by the VABS-3 correlated with directly assessed performance measures. Our data underscore the potential value of VABS-3 and Leiter-3 as tools to assess psychometric function in AGS. With a deeper understanding of our patients\' abilities, we can better guide clinicians and families to provide appropriate support and personalized interventions to empower children with leukodystrophies to maximize their communication and educational potential.