Page 142 - Demo

Chapter 6140as a dynamic interaction between health conditions, environmental factors, and personal factors. To get a better understanding of functioning and what is relevant to individuals, a patient-reported outcome measure (PROM) would allow an insight into perceived severity and impact. PROMs are questionnaires that measure how an individual experiences his or her own health.18–20 They have become important for value-based healthcare and shared-decision making21 and are increasingly used in practice and scientific research to quantify the severity and impact of the diseases on daily functioning from the perspective of the individual. PROMs enable periodical and quantitative evaluation of symptoms and functioning of the patient population. It can thus be used for monitoring and informing care, and as an outcome measure for trials.22Questionnaires commonly used in TSC trials, such as the Pediatric Quality of Life Inventory (PedsQLTM 4.0)23 and Short-Form 36 (SF-36),24 do not include disease-specific symptoms and may not be responsive enough for individuals with TSC.25,26 In addition, adults with TSC may or may not be able to self-report, and most existing questionnaires for adults are most commonly solely available as self-report. Adult proxy-report questionnaires are often unavailable for the domains of interest. It has been suggested that health problems in TSC are underestimated by excluding the more severely affected individuals, preventing them from early interventions.27–29Previous clinical trials that did not demonstrate significant clinical benefits based on parent-reported PROMs as primary outcome measures, such as the Aberrant Behavior Checklist – Irritability subscale,30 have been considered unsuccessful even when secondary outcome measures, such as visual analog scale ratings of parent-nominated problem behaviors or subscales validated for that specific patient population, indicated positive improvements.31 This raises questions about whether the intervention was truly ineffective or whether the measurement instrument or mode of administration (proxy-report) was not responsive to therapy or suitable for the population being studied. Annelieke Muller sHL.indd 140 14-11-2023 09:07