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

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

SUBMITTER: Muller AR 

PROVIDER: S-EPMC10408092 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature