Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Annelieke R. Müller, Michiel A.J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W. Ten Hoopen, Laura C.G. de Graaff, Marie Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen

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Abstract

BACKGROUND: 

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. 

METHODS: 

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. 

RESULTS: 

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). 

CONCLUSIONS: 

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.

Original languageEnglish
Article number298
Number of pages1
JournalBMC Medicine
Volume21
Issue number1
DOIs
Publication statusPublished - Dec 2023

Bibliographical note

Funding Information:
We would like to acknowledge the individuals with TSC and their representatives who participated in the study and Jo Anne Nakagawa, Eva Schoeters, and Jan-Paul Wagenaar on behalf of the patient organizations from the US (TSC Alliance), Belgium (BeTSC), and the Netherlands (Stichting Tubereuze Sclerosis Nederland), respectively. We also want to thank Molly Griffith and Lauren Davis from Cincinnati Children’s Hospital Medical Center and Le Bonheur Children’s Hospital Memphis who helped with recruitment. Prof. Jan van der Ende is thanked for his methodological contribution to developing the TSC-PROM. Furthermore, we are grateful to the Dutch TSC Foundation (Stichting TSC Fonds) for financially enabling this study. AJ is supported by a Senior Clinical Investigator Fellowship from the Research Foundation Flanders (FWO FKM 1805321N). AvE, LdG, MdW, and LtH are member of European Reference Network (ERN) ITHACA. LdG is affiliated with ENDO-ERN.

Funding Information:
We would like to acknowledge the individuals with TSC and their representatives who participated in the study and Jo Anne Nakagawa, Eva Schoeters, and Jan-Paul Wagenaar on behalf of the patient organizations from the US (TSC Alliance), Belgium (BeTSC), and the Netherlands (Stichting Tubereuze Sclerosis Nederland), respectively. We also want to thank Molly Griffith and Lauren Davis from Cincinnati Children’s Hospital Medical Center and Le Bonheur Children’s Hospital Memphis who helped with recruitment. Prof. Jan van der Ende is thanked for his methodological contribution to developing the TSC-PROM. Furthermore, we are grateful to the Dutch TSC Foundation (Stichting TSC Fonds) for financially enabling this study. AJ is supported by a Senior Clinical Investigator Fellowship from the Research Foundation Flanders (FWO FKM 1805321N). AvE, LdG, MdW, and LtH are member of European Reference Network (ERN) ITHACA. LdG is affiliated with ENDO-ERN. The Twitter handles that could be included in the manuscript are @AnneliekeMuller, @LotteHaverman, @AndreRietm92521, @jansen_ac, and @DoctorGipson.

Publisher Copyright:
© 2023, BioMed Central Ltd., part of Springer Nature.

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