结节性硬化复合症（TSC）是一种罕见而复杂的遗传疾病，与各种器官系统的肿瘤生长、癫痫发作以及一系列神经精神症状（包括智力残疾）有关。随着患者中心化护理和靶向治疗的改进，需要患者自述结果测量（PROMs）来衡量TSC症状对日常功能的影响。本研究旨在开发一种适用于成年人的TSC专用PROM，以捕捉TSC对身体功能、心理功能、活动和参与以及患有TSC的个体所接受的社会支持的影响，此为TSC-PROM。使用COSMIN方法论开发了一份自我报告和代理报告的版本。开发和验证包括以下研究：PROM开发、内容效度、结构效度、内部一致性和构想效度。使用国际功能与残疾分类作为框架。通过多学科专家组和认知访谈研究检查内容效度。在大样本中，通过验证性因素分析、假设检验和Cronbach's alpha检查结构和构想效度以及内部一致性。该研究得出了TSC-PROM的82项自测版本和75项代理版本，分为四个分项量表（自测版本和代理版本的身体功能18和19项，心理功能37和28项，活动和参与13和14项，社会支持13项）。对于每个分项量表，结构效度均表现出足够的一元性。关于构想效度，自测版本达到82%的假设，代理版本为59%。该PROM显示出良好的内部一致性（Cronbach's alpha为0.78-0.97）。我们开发了一份适用于TSC成年人的名为TSC-PROM的PROM，显示出可靠性和有效性的足够证据，可在临床和研究环境中使用，系统地了解他们的体验。这是TSC领域中第一个针对特定TSC症状对功能的影响的PROM，为当前临床结果的有价值且以患者为中心的补充提供了重要的贡献。© 2023. BioMed Central Ltd., part of Springer Nature.

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.© 2023. BioMed Central Ltd., part of Springer Nature.