Page 149 - Demo

Development and validation of the TSC-PROM1476included as a scale to gather information on the type and quantity of the support someone is receiving, which is an important part of the PROM for the sake of completeness, as this could affect physical functions, mental functions, and activities and participation, but not directly a functioning component. A two-sided significance level of 5% was used.Structural validity was assessed for the subscales 1) physical functions, 2) mental functions, and 3) activities and participation using a confirmatory factor analysis (CFA) (see Additional file 1). With regard to internal consistency, Cronbach’s alpha was calculated for each TSC-PROM subscale, including the continuous HRQoL VAS. A Cronbach’s alpha between 0.70 and 0.95 was considered adequate.63Construct validity was examined by correlating the scores of the TSCPROM with scores of other instruments that assess the same construct to be measured, also known as convergent validity. Regarding convergent validity, correlations were assessed between the TSC-PROM domain scores and the SF-36 physical component score, mental component score, and the total scores of the ASR, CBCL/1.5-5 or CBCL/6-18. Construct validity was considered sufficient if 75% of the hypotheses were met (see Additional file 1). To assess discriminative validity, analyses were performed using group dichotomization or categorization. A priori hypotheses were defined including 1) individuals with TSC2 pathogenic variants will show lower TSCPROM scores on the physical domain, mental domain, and TSC-PROM HRQoL VAS compared to individuals with a TSC1 pathogenic variant,56–582) individuals who reported a drastic life event in the past year will show a lower score on the mental functions domain, 3) individuals with a higher number of involved organ systems will show lower scores on the HRQoL VAS,27 and 4) individuals with the presence of psychiatric diagnoses will show lower TSC-PROM scores on the mental functions domain, activities and participation domain, and HRQoL VAS (see Additional file 1).27Data managementThe questionnaires were digitally distributed using LimeSurvey.64 As the survey did not allow for missing data, no specific missing item analysis Annelieke Muller sHL.indd 147 14-11-2023 09:07