's Heeren Loo, Amersfoort, The Netherlands.
Emma Center for Personalized Medicine, Department of Pediatrics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
BMC Med. 2023 Aug 8;21(1):298. doi: 10.1186/s12916-023-03012-4.
Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to measure the impact of TSC manifestations on daily functioning. The aim of this study was to develop a TSC-specific PROM for adults that captures the impact of TSC on physical functions, mental functions, activity and participation, and the social support individuals with TSC receive, called the TSC-PROM.
COSMIN methodology was used to develop a self-reported and proxy-reported version. Development and validation consisted of the following studies: PROM development, content validity, structural validity, internal consistency, and construct validity. The International Classification of Functioning and Disability was used as a framework. Content validity was examined by a multidisciplinary expert group and cognitive interview study. Structural and construct validity, and internal consistency were examined in a large cohort, using confirmatory factor analysis, hypotheses testing, and Cronbach's alpha.
The study resulted in an 82-item self version and 75-item proxy version of the TSC-PROM with four subscales (physical functions 18 and 19 items, mental functions 37 and 28 items, activities and participation 13 and 14 items, social support 13 items, for self version and proxy version respectively). Sufficient results were found for structural validity with sufficient unidimensionality for each subscale. With regard to construct validity, 82% of the hypotheses were met for the self version and 59% for the proxy version. The PROM showed good internal consistency (Cronbach's alpha 0.78-0.97).
We developed a PROM for adults with TSC, named TSC-PROM, showing sufficient evidence for reliability and validity that can be used in clinical and research settings to systematically gain insight into their experiences. It is the first PROM in TSC that addresses the impact of specific TSC manifestations on functioning, providing a valuable, patient-centered addition to the current clinical outcomes.
结节性硬化症（TSC）是一种罕见且复杂的遗传疾病，与各种器官系统的肿瘤生长、癫痫以及一系列神经精神表现有关，包括智力残疾。随着以患者为中心的护理和靶向治疗的改善，需要使用患者报告结局测量（PROM）来衡量 TSC 表现对日常功能的影响。本研究旨在为成人开发一种专门针对 TSC 的 PROM，该 PROM 可捕捉 TSC 对身体功能、精神功能、活动和参与以及个体接受 TSC 的社会支持的影响，称为 TSC-PROM。
使用 COSMIN 方法开发自我报告和代理报告版本。开发和验证包括以下研究：PROM 开发、内容有效性、结构有效性、内部一致性和构念有效性。国际功能、残疾和健康分类被用作框架。内容有效性通过多学科专家组和认知访谈研究进行检查。结构和构念有效性以及内部一致性在一个大型队列中使用验证性因子分析、假设检验和 Cronbach 的 alpha 进行检查。
该研究产生了 TSC-PROM 的 82 项自我版本和 75 项代理版本，包含四个子量表（身体功能 18 和 19 项，精神功能 37 和 28 项，活动和参与 13 和 14 项，社会支持 13 项，分别用于自我版本和代理版本）。每个子量表都有足够的结构有效性结果，具有足够的单一维度。关于构念有效性，自我版本的 82%的假设得到满足，代理版本的 59%的假设得到满足。该 PROM 显示出良好的内部一致性（Cronbach 的 alpha 为 0.78-0.97）。
我们为成人 TSC 开发了一种 PROM，命名为 TSC-PROM，其可靠性和有效性有足够的证据支持，可在临床和研究环境中使用，以系统地深入了解他们的体验。它是 TSC 中第一个针对特定 TSC 表现对功能的影响的 PROM，为当前的临床结果提供了有价值的、以患者为中心的补充。
