Kennedy Krieger Institute, Center for Neuropsychological and Psychological Assessment & Johns Hopkins School of Medicine, Department of Psychiatry & Behavioral Sciences, Baltimore, MD, USA.
Nationwide Children's Hospital, Department of Psychology & Ohio State University, Department of Psychiatry and Behavioral Health, Columbus, OH, USA.
Epilepsy Behav. 2024 Nov;160:109975. doi: 10.1016/j.yebeh.2024.109975. Epub 2024 Sep 20.
Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness. The purpose of this pilot study was to examine and compare the initial psychometric properties of a series of commonly used standardized and norm-referenced measures of cognition and adaptive functioning as well as alternative measures of neurobehavioral functioning designed to capture responsivity (i.e., alertness, awareness, responsivity to the environment) in those with acquired brain injuries in a sample of individuals with severe to profound functional impairment associated with a neurogenetic etiology. Ten individuals (median age = 7.5 years, IQR = 4.8-11.5, range 4-21; n = 8 male) with severe to profound functional impairment associated with SCN2A-Related Disorder and their parents were included in this study. Parents completed the Vineland Adaptive Behavior Scales, Third Edition Comprehensive Interview (Vineland-3) and the Developmental Profile, Fourth Edition Cognitive Scale (DP-4) and their children completed the Bayley Scales of Infant and Toddler Development Cognitive Scale (Bayley-4; given out of the standardized age-range) and two measures of responsivity, the Coma Recovery Scale, Pediatric and the Rappaport Coma/Near Coma Scale. Results demonstrated exceptionally low skills (median Vineland-3 Adaptive Behavior Composite = 35.5) and frequent floor effects across norm-referenced measures (i.e., Vineland-3, DP-4, Bayley-4); however, raw scores yielded more range and variability and no absolute floor effects. There were also no floor effects on measures of responsivity and findings suggest that these alternative tools may capture more variability in some aspects of neurobehavioral functioning that are critical to higher order cognitive functions, particularly for those with mental-ages below a 12 month-level. Initial evidence of construct validity of all measures in this population was shown. Findings support ongoing investigation of measures of responsivity and identified areas of potential measure modification that may improve applicability for individuals with severe to profound functional impairment associated with neurogenetic as opposed to acquired etiologies.
对于与严重功能障碍相关的神经发育有深远影响的神经遗传疾病患者，目前缺乏具有临床意义的评估工具，而这些工具对于临床护理和临床试验准备至关重要。本研究旨在检验和比较一系列常用的认知和适应功能的标准化和常模参照评估方法，以及旨在评估脑损伤后个体反应能力（即警觉性、意识、对环境的反应能力）的替代神经行为功能评估方法的初步心理测量学特性。本研究纳入了 10 名患有与神经遗传病因相关的严重至重度功能障碍的个体（中位数年龄=7.5 岁，IQR=4.8-11.5，范围 4-21；8 名男性）及其父母。父母完成了《Vineland 适应行为量表，第三版综合访谈》（Vineland-3）和《发展概况，第四版认知量表》（DP-4），其子女完成了《贝利婴幼儿发育认知量表，第四版》（Bayley-4；超出了标准化年龄范围）和两种反应能力评估方法，即《昏迷恢复量表，儿科版》和《Rappaport 昏迷/接近昏迷量表》。研究结果表明，个体的技能水平极低（Vineland-3 适应性行为综合得分中位数=35.5），且常模参照评估方法存在严重的地板效应（即 Vineland-3、DP-4、Bayley-4）；然而，原始分数表现出更多的范围和变异性，不存在绝对的地板效应。反应能力评估方法也不存在地板效应，研究结果表明，这些替代工具可能在某些神经行为功能方面更能捕捉到差异，这些差异对高阶认知功能至关重要，尤其是对那些心理年龄低于 12 个月的个体。本研究还初步证明了所有评估方法在该人群中的结构效度。研究结果支持对反应能力评估方法的进一步研究，并确定了潜在的测量方法改进领域，这可能会提高这些评估方法在神经遗传病因相关的严重至重度功能障碍个体中的适用性。
