Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.
Children's Hospital Colorado, Pediatric Neurology, University of Colorado, School of Medicine, Aurora, CO, USA.
Epilepsy Behav. 2023 Feb;139:109069. doi: 10.1016/j.yebeh.2022.109069. Epub 2023 Jan 10.
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). Confirmatory factor analysis was conducted and the goodness of fit of the factor structure was assessed. Fixed-effects linear regression models examined the responsiveness of QI-Disability to reported changes in child health. A subset of parent caregivers (n = 56) completed QI-Disability, as well as additional health-related questions, on two occasions separated by four weeks to evaluate test-retest reliability. Test-retest reliability was assessed using intra-class correlations (ICCs) calculated from QI-Disability scores. Based upon adjustments for changes in child health, ICCs were recalculated to estimate responsiveness to change. Confirmatory factor analysis, internal consistency, and divergent validity were mostly satisfactory, except divergent validity was not satisfactory for the Social Interactions and Independence domains. The Physical Health, Social Interactions, Leisure, and Total scores responded to changes in the child's Physical health, and the Negative Emotions and Leisure domains responded to changes in the child's behavior. Unadjusted and adjusted ICC values were above 0.8 for the Positive Emotions, Negative Emotions, Social Interactions, Leisure, Independence domains and Total score, and above 0.6 for the Physical Health domain. Findings suggest that QI-Disability is suitable to assess the quality of life of children and adults with CDD and could be of value for upcoming clinical trials.
CDKL5 缺乏症（CDD）是一种罕见的遗传性疾病，其症状包括癫痫、发育障碍和其他合并症。目前，尚无针对 CDD 的全面验证的结果测量方法。本研究旨在评估生活质量量表残疾版（QI-Disability）在 CDD 中的心理测量特性。生活质量量表残疾版在国际 CDKL5 疾病数据库（ICDD）注册的 152 名家长照顾者中进行了评估。进行了验证性因子分析，并评估了因子结构的拟合优度。固定效应线性回归模型检验了 QI-Disability 对儿童健康报告变化的反应能力。一组家长照顾者（n=56）在四周的间隔内两次完成了 QI-Disability 以及其他与健康相关的问题，以评估测试-重测信度。使用从 QI-Disability 得分计算的组内相关系数（ICC）评估测试-重测信度。根据儿童健康变化的调整，重新计算 ICC 以估计对变化的反应能力。验证性因子分析、内部一致性和发散效度大多令人满意，除了社会互动和独立性领域的发散效度不令人满意。身体健康、社会互动、休闲和总分对儿童身体健康的变化有反应，消极情绪和休闲领域对儿童行为的变化有反应。未经调整和调整后的 ICC 值在 0.8 以上的有积极情绪、消极情绪、社会互动、休闲、独立领域和总分，在 0.6 以上的有身体健康领域。研究结果表明，QI-Disability 适合评估 CDD 儿童和成人的生活质量，可能对即将进行的临床试验有价值。
