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Chapter 6158and timely referral to appropriate care providers. Until now, assessments of disease severity using clinical rating scales such as the clinical global impression scale omitted patient perspectives about issues of relevance to their health. Additionally, it has been pointed out that perception of the individuals’ functioning by clinicians and individuals themselves differ.69,70Using the TSC-PROM may improve communication between the individual and clinician and treatment outcomes and facilitate shared-decision making, resulting in increased satisfaction with care. Recommendations for use in researchThe TSC-PROM can bridge the gap between care and interventional research. It can be used as an outcome measure to gain insight into patients’ perspective on physical functions, mental functions, activities and participation, and the social support individuals with TSC receive, in observational, epidemiological, longitudinal studies and in interventional trials. It can also relate therapeutic or biomarker findings to self-evaluated functioning. This is important for evaluating novel treatments such as antiseizure medication, mTOR inhibitors, cannabidiol treatments and eventually more (expensive) targeted therapies such as gene or RNA modification.2,71Although a TAND-specific outcome measure is under development,72 the assessment of all relevant health domains in individuals with TSC has been hampered by the lack of a TSC-specific measure,9 comparable to several other rare diseases for which disease-specific outcome measures have eventually been developed.28,73–76Thus far, generic instruments have been used with the advantage of allowing comparison between different disease (sub)groups. However, these PROMs often do not include all relevant domains of functioning in TSC, or proxy versions for adults are not available.10,17 As a result, multiple tools have been used in single trials to measure the full impact. As the TSCPROM addresses all domains of the ICF framework relevant to individuals with TSC while displaying convergent validity to existing generic instruments (SF-36, ASR, CBCL), it may better capture all important manifestations and aspects that impact the functioning of individuals with TSC than existing instruments. Annelieke Muller sHL.indd 158 14-11-2023 09:07