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Outcomes and outcome measurement instruments1235There were 18 condition-specific outcome measurement instruments used in 30 (10%) clinical trials in total, including instruments for Down syndrome, Prader-Willi syndrome, phenylketonuria, mitochondrial disease, Rett syndrome, Fragile X syndrome, Niemann-Pick disease type C, and phosphomannomutase deficiency congenital disorder of glycosylation. Two condition-specific outcome measurement instruments were designed ad-hoc for the specific trial.The outcome measurement instruments classified as PROs, ClinROs, and ObsROs were used as self-report (n=183, 22%), self-assisted report (n=7, 1%), proxy-report (n=327, 39%), observer-report (n=46, 6%), clinician-report (n=132, 16%) or unclear (n=136, 16%). Within proxy-report, parent-report was mentioned for 218 outcome measurements and teachers reported for 31 measurements. The instruments, classified according to the Valderas & Alonso model (when applicable), revealed representation of all health domains: symptoms (n=26, 5%), physical function (n=34, 7%), mental function (n=141, 29%), social function (n=80, 17%), general health perceptions (n=16, 3%), (HR-)QoL (n=23, 5%), and cognitive function including both performance-based tests and rating scales (n=161, 33%).DiscussionThis scoping review is the first overview of the myriad of outcomes and outcome measurement instruments used in clinical trials in GNDs and ID of unknown cause. It provides insight into the large number of (often differently reported) outcomes and outcome measurement instruments. Cognitive function was most frequently measured. The majority of instruments was used in only one clinical trial. This review demonstrates the need for harmonization, consensus on terminology, classification, and development of a core outcome set. It serves as a starting point for discussion about a more universal approach to the selection of relevant outcomes and instruments, creating a bridge between GNDs and ID fields Annelieke Muller sHL.indd 123 14-11-2023 09:07