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Chapter 118Personalized outcome measuresTo measure what matters to affected individuals, their perspectives should be included, as trials are ultimately aimed at improving the affected individuals’ well-being.72 Personalized outcome measures could be used, such as Goal Attainment Scaling (GAS). GAS is an instrument that is intended for standardized evaluation of the effect of an intervention based on individualized goals.73 In this way, quantitative expression of meaningful subjective patient experiences is enabled while translating it into evidence. However, GAS has not yet been validated for this population, neither have other personalized outcomes measures been commonly used in clinical trials.Due to the huge amount of available outcome measurement instruments, yet without clear consensus about applicability to RGNDs and ID with regard to availability and validity, multiple tools have been selected in clinical trials, which might hamper extrapolation of trial results and acceptance by affected individuals, family and clinicians.How to realize disorder-specific care? From diagnosis towards careWith advances in genetic and omics techniques, a genetic underlying cause can be identified in up to 50% of individuals with ID, with many more awaiting diagnosis.74,75 As a result, more children with RGNDs or inherited metabolic disorders can be diagnosed at an early age.76 Early diagnoses ideally allow targeted therapy to exert its effect in the crucial neurodevelopmental time window, and prevent diagnostic odysseys. Potentially, it might prevent (progression of) devastating health manifestations.77–79Knowledge about the genetic etiology and associated somatic and behavioral phenotypes may provide detailed information on the cause, prognosis, inheritance for family planning, and treatment options.20,80 It might help to understand and accept the disease by affected individuals, family, and care providers, which enables adequate and timely responding and might increase empowerment. It provides supportive care, special education or tools, access to expertise centers and peer support groups, and financial and emotional support. RGNDs are often associated with several comorbidities, as they encompass known susceptibility loci for specific comorbidities, Annelieke Muller sHL.indd 18 14-11-2023 09:07