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

BMC Medicine

Research Article

Lotte Haverman¹  Michiel A. J. Luijten¹  Laura C. G. de Graaff²  Petrus J. de Vries³  André B. Rietman⁴  Leontine W. ten Hoopen⁵  Wendela L. de Ranitz-Greven⁶  Peter Janssens⁷  Jamie K. Capal⁸  Marie-Claire de Wit⁹  Tanjala Gipson^1,10  Anna C. Jansen^1,11  Annelieke R. Müller^1,12  Agnies M. van Eeghen^1,13 

[1] Amsterdam Public Health Research Institute, Methodology and Mental Health and Personalized Medicine, Amsterdam, The Netherlands;Department of Child and Adolescent Psychiatry & Psychosocial Care, Emma Children’s Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands;Amsterdam Reproduction & Development, Child Development, Amsterdam, The Netherlands;Center for Adults With Rare Genetic Syndromes, Division of Endocrinology, Department of Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands;Centre for Autism Research in Africa (CARA), Division of Child & Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa;Department of Child and Adolescent Psychiatry/Psychology and ENCORE Expertise Center, Erasmus Medical Center Sophia Children’s Hospital, Rotterdam, The Netherlands;Department of Child and Adolescent Psychiatry/Psychology and ENCORE Expertise Center, Erasmus Medical Center Sophia Children’s Hospital, Rotterdam, The Netherlands;Erasmus School of Health Policy & Management, Erasmus University Rotterdam, Rotterdam, The Netherlands;Department of Internal Medicine, University Medical Center Utrecht, Utrecht, The Netherlands;Department of Nephrology and Arterial Hypertension, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel, Brussels, Belgium;Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA;Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA;Department of Pediatric Neurology and ENCORE Expertise Center, Erasmus Medical Center Sophia Children’s Hospital, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands;Department of Pediatrics, University of Tennessee Health Sciences Center, Memphis, TN, USA;Le Bonheur Children’s Hospital and Boling Center for Developmental Disabilities, Memphis, TN, USA;Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium;Pediatric Neurology Unit, Department of Pediatrics, Antwerp University Hospital; Translational Neurosciences, University of Antwerp, Antwerp, Belgium;‘s Heeren Loo, Amersfoort, The Netherlands;Emma Center for Personalized Medicine, Department of Pediatrics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands;Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Amsterdam, The Netherlands;Amsterdam Public Health Research Institute, Methodology and Mental Health and Personalized Medicine, Amsterdam, The Netherlands;‘s Heeren Loo, Amersfoort, The Netherlands;Emma Center for Personalized Medicine, Department of Pediatrics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands;Amsterdam Public Health Research Institute, Methodology and Mental Health and Personalized Medicine, Amsterdam, The Netherlands;Amsterdam Reproduction & Development, Child Development, Amsterdam, The Netherlands;

关键词: Tuberous sclerosis complex;    Patient-reported outcome measure;    Functioning;    Quality of life;    Intellectual disability;    Adults;    Validity;    Rare genetic disorder;   

DOI  :  10.1186/s12916-023-03012-4

 received in 2023-05-17, accepted in 2023-07-27,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundTuberous 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.MethodsCOSMIN 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.ResultsThe 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).ConclusionsWe 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.

【 授权许可】

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

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