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Outcomes and outcome measurement instruments1175neurometabolic disorder/heterogeneous ID of unknown cause (if neurometabolic disorder, this category was used; GNDs and neurometabolic disorders can overlap), diagnosis, patient characteristics (including age, sex, severity of ID), design, duration of trial, randomization, blinding, intervention, comparator used, type of COA, reported outcomes, outcome measurement instruments, whether it concerned a condition-specific or personalized outcome measure, type of report, number of assessments, mode of data collection, setting, and involvement of patient/parent perspectives regarding the choice of outcome measures. The reported outcomes were classified according to the most commonly used terms by the authors of the included studies. As for outcomes related to behavior, the term ‘behavior’ was used when general behavior was reported or when it was not further specified. Otherwise, terminology for specific behavior was reported, such as ‘repetitive behavior’. Outcome measurement instruments were classified based on the reported outcomes and information provided in the articles using a conceptual model of health outcomes from Valderas & Alonso, which is a combination of the classification system of Wilson and Cleary and the International Classification of Functioning, Disability and Health (Figure 1B).3,36 Domains included symptoms, physical function, mental function, social function, general health perceptions, and HR-QoL. Additionally, cognitive function was included as a separate domain to better distinguish mental health domains, considering the target population. ResultsOf 4,507 identified citations, 312 studies met the inclusion criteria, with 251 research articles and 61 trial protocols in registers. Study characteristics, population, interventions, methodologyStudy populations differed across the studies, including heterogeneous populations with ID of unstated etiology (n=143, 46%), GNDs (n=135, 43%), and neurometabolic disorders (n=34, 11%). Specific genetic or metabolic diagnoses that were included are presented in Table 1. Annelieke Muller sHL.indd 117 14-11-2023 09:07