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Outcomes and outcome measurement instruments1275compliance.27,66 Affected individuals and representatives of the target population should be formally involved in the choice of measured outcomes, while now involvement was mentioned in only 2% of the clinical trials. When selecting instruments, their acceptability, feasibility, and measurement properties should be taken into account (Table 3). For already overburdened caregivers, outcome measurement instruments can be timeconsuming to complete, and are often experienced as confronting due to inappropriateness of questions, leading to poor acceptability.55 Furthermore, it is recommended to attempt to include (user-friendly) PROMs to acquire information from the patient perspective, as also encouraged by regulatory authorities such as the FDA and EMA.70,71Table 3. Recommendations, as provided by the authors, with regard to selecting outcomes and outcome measurement instruments in clinical trials for individuals with genetic neurodevelopmental disorders and/or intellectual disability.Considerations 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 modelsIs 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)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.Annelieke Muller sHL.indd 127 14-11-2023 09:07