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Chapter 10308in clinical trials. Recommendations are provided for the near future to select outcomes and instruments to accurately capture what matters to individuals, and an idealized picture is discussed for the long-term. Existing instruments commonly used in trials in specific RGNDs often focus on single areas, do often not include disease-specific symptoms and may not be sensitive enough for individuals with the particular RGND. Specifically, for the TSC patient organization, researchers, and healthcare providers, the development of an instrument that measures domains and symptoms relevant to individuals with TSC has been considered a top priority. In Chapter 6, we describe the development and validation of a disorder-specific patient-reported outcome measure (PROM) for adults with TSC, named the TSC-PROM, that captures the impact of TSC on physical functions, mental functions, activity and participation, the social support someone receives, and health-related quality of life. It consists separate versions in English and Dutch for self-report and proxy-report. To acquire information from the affected individual’s perspective, innovative (user-friendly) ways should be used such as emoticons, symbols or experience sampling, as internal states (e.g., anxiety or depression) may be difficult to measure by proxy-reports. Experience sampling is a method for collecting information about an individual’s subjective experiences at multiple (random) times, using digital data collection methods such as smartphones nowadays. Chapter 7 describes the accessibility and feasibility of experience sampling for the assessment of mental health in individuals with ID, including important gaps in knowledge about acceptability, availability, and appropriateness of current implementation. Part III: Genetic diagnosis in multidisciplinary ID careA genetic diagnosis allows disorder-specific care. Due to the rapid technological advances, the genetic etiology can be identified in up to 50% with more than 1500 primary ID genes causing around 1800 IDrelated disorders, in addition to another 1250 ID candidate genes, copy number variations, and other genetic causes of ID. Knowing the genetic cause provides information on associated somatic and neuropsychiatric manifestations, providing targets for prognosis, screening, prevention, Annelieke Muller sHL.indd 308 16-11-2023 09:26