Page 112 - Demo

Chapter 5110AbstractObjective: Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted treatments are increasingly available, but due to the heterogeneity of these patient populations, choosing a key outcome and outcome measurement instrument remains challenging. This scoping review aimed to provide an overview of outcomes and instruments used in clinical trials in GNDs and ID.Methods: The protocol was published in the Open Science Framework. MEDLINE, PsycINFO and Cochrane CENTRAL were searched for clinical trials in individuals with GNDs and ID over the past ten years. Information was recorded on patient populations, interventions, designs, outcomes, measurement instruments, and type of reporter when applicable. Qualitative and descriptive analyses were performed.Results: We included 312 studies reporting 91 different outcomes, with cognitive function most frequently measured (28%). Various outcome measurement instruments (n=457) were used of which 288 instruments in only one clinical trial. There were 18 genetic condition-specific instruments and 16 measures were designed ad-hoc for one particular trial. Types of reporter included proxy-report (39%), self-report (22%), clinician-report (16%), observer-report (6%), self-assisted report (1%), or unknown (16%).Interpretation: This scoping review of current practice reveals a myriad of outcomes and outcome measurement instruments for clinical trials in GNDs and ID. This complicates generalization, evidence synthesis, and evaluation. It underlines the need for consensus on suitability, validity and relevancy of instruments, ultimately resulting in a core outcome set. A series of steps is proposed to move from the myriad of measures to a more unified approach.Annelieke Muller sHL.indd 110 14-11-2023 09:07