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General discussion2879Considerations when selecting outcomes and instrumentsRecommendationsWhat construct will be measured?Make sure the construct is relevant to the affected individual(s)Formally involve affected individuals and/or representatives in the selection of measured outcomesWhat instrument(s) could be used?Take into account measurement properties, such as validity, reliability, and responsiveness to changeConsider PROMIS®, core outcome sets, NIH-TCB, ERICA PROMs RepositoryConsider using different types of outcome measurement instruments, such as personalized measures, PROMs, and biological or mechanistic measures, which may also be relevant for translational research (e.g., measurable in animal studies) to enable comparison of candidate drugs across models.Is the instrument appropriate for this target population?Take into account acceptability and feasibility to increase recruitment and complianceMinimize study visits and burden and maximize measurements in a natural setting (e.g., remote measurements and experience sampling methods)Who will be the reporter? Attempt to (also) acquire information directly from the affected individual, adapted to the level of functioning (e.g., smileys and other symbols)Figure 2. Recommendations with regard to selecting outcomes and outcome measurement instruments in clinical trials for individuals with genetic neurodevelopmental disorders and/or intellectual disability.ERICA, European Rare Disease Research Coordination and Support Action consortium; NIH-TCB, National Institutes of Health Toolbox Cognitive Battery (NIH-TCB); PROM, patient-reported outcome measure; PROMIS, Patient-Reported Outcomes Measurement Information System.Challenges with outcome measures in RGNDs and IDChoosing appropriate outcome measures for RGNDs can be challenging. The heterogeneity and broad range of ID severity in RGNDs may complicate the choice for outcome measures. Hurdles that have been encountered include varying cognitive abilities, high rate of behavioral and emotional disturbances, a lack of stability, practice effects, floor effects, limiting sensitivity, and a lack of consensus on the best measures within a particular construct.31,33 That has resulted in initiatives, such as the development and validation of the National Institutes of Health Toolbox Cognitive Battery (NIH-TCB) for ID. Furthermore, most existing questionnaires for adults are Annelieke Muller sHL.indd 287 14-11-2023 09:08