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Chapter 5112Box 1. continuedDefinition Abbreviation ExplanationConditionspecific outcome measuresA measure capturing elements of health relevant to a particular patient group or designed for a specific patient population. Personalized outcome measureA measure that refers to an instrument in which the domains and/or weights are not fixed. Outcome areas are specific for each individual and the affected individual (or proxy) is involved in identifying and setting specific outcome areas. In clinical trials, these are intended for standardized evaluation of an intervention’s effectiveness based on individualized problems or goals.IntroductionIntellectual disability (ID) occurs in 1-3% of the population and is characterized by substantial limitations in both intellectual functioning and adaptive behavior, originating during the developmental period.5–7Exogenous factors such as an infection and birth complications may cause ID,8 and with novel techniques such as exome and genome sequencing, a genetic etiology can be identified in up to 50% of the individuals with ID with many more awaiting diagnosis (Figure 1).9,10 Although these genetic neurodevelopmental disorders (GNDs), including syndromic ID and neurometabolic disorders, are individually rare, collectively they are common.11,12 In GNDs, the level of intellectual functioning is variable, ranging from normal or borderline functioning to profound ID.13–15 Although GNDs and ID populations have often been separately studied, there is substantial overlap in patient populations.Individuals with GND and ID are often affected by complex somatic and neuropsychiatric comorbidity, with great inter- and intra-individual variability. Neuropsychiatric manifestations typically cause the greatest burden for the affected individual, their families, and on health care systems, with a substantial clinical and economic burden.16 The Food and Drug Administration (FDA) considers clinical outcome assessments (COAs), including patient-reported outcomes (PROs), clinician-reported outcomes (ClinROs), observer-reported outcomes (ObsROs), and performance Annelieke Muller sHL.indd 112 14-11-2023 09:07