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Summary / samenvatting30910monitoring, (targeted) treatment, and care. The often complex and variable multiorgan comorbidity typically requires involvement of a multidisciplinary team including physicians, mental health professionals, and caregivers. Chapter 8 explores to what extent genetic diagnoses are documented by the care team and identifies associated clinical and demographic factors. It reveals a care gap for personalized care in individuals with ID, showing limited and variable reporting of genetic diagnoses by all types of care providers. We found that more severe levels of ID, lower age, and close proximity of the legal representative’s relationship to the client were associated with increased reporting of information about genetic etiology, indicating disparities in access to genetic testing. Early diagnosis is crucial to prevent irreversible damage, especially for metabolic disorders, although relevant for neurodevelopmental disorders as well in terms of monitoring and (preventive) care. We have provided recommendations to overcome barriers and contributors to care gaps to identify individuals at risk of underdiagnosis and undertreatment, and to enable disorder-specific, personalized care and empowerment with regard to diagnostics. In Chapter 9, we discuss the implications of all study findings included in this thesis and provide recommendations and future perspectives, including next steps for the implementation of our findings and a framework to guide clinicians and researchers in future interventional research, such as trial design and outcome measures. We emphasize the need for a specific diagnosis to consider personalized and disorder-specific treatments. To provide evidence-based treatment decisions and to prevent polypharmacy, we advocate the use of N-of-1 studies, considered a much-needed bridge between science and practice, especially in complex patient populations.This thesis aids in accomplishing clinical research for RGNDs and enabling personalized, disorder-specific care for these vulnerable affected individuals. It discusses challenges involved in evidence-based care for RGNDs. We advocate reporting of genetic diagnosis, including details of diagnostic test results, in individuals with ID, personalized treatment approaches, use of the N-of-1 design, and the thorough selection of appropriate and relevant outcome measures to optimize the potential of personalized medicine for individuals with RGNDs and ID. Annelieke Muller sHL.indd 309 14-11-2023 09:08