Values of individuals with rare genetic neurodevelopmental disorders and their family/caregivers in healthcare: A scoping review to inform guideline development

Background: Healthcare decision-making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers. Clinical practice guideline recommendations for managing RGNDs should align with the values of individuals and their families/caregivers; this requires the use of an appropriate Evidence-to-Decision framework in guideline development. This review aims to describe what individuals with RGNDs associated with ID and their family/caregivers value in healthcare and healthcare decision-making.

Methods: This scoping review aimed to map the available evidence on individual and family/caregiver values in healthcare for RGNDs to inform guideline development. MEDLINE, Embase, PsycINFO and CINAHL were systematically searched for literature published from 2000 to 2025, with the final search conducted on 1 June 2025. Studies reporting primary qualitative data on individuals with RGNDs and/or their family/caregivers in the context of healthcare were eligible for inclusion. Inductive content analysis was conducted to map values in healthcare and healthcare decision-making.

Results: One hundred twenty-five articles were included. Most studies reported on the perspectives of families/caregivers and on relatively more common conditions, in particular Down syndrome. Important values included autonomy, person-centredness, feasibility, competence of and connection with the healthcare professional and accessibility, coordination and absence of stigma on the level of the healthcare system and society. In healthcare decision-making, benefits and harms both on an individual and on the family level were balanced alongside uncertainty, priority of health issues and identity-related considerations.

Discussion: Guideline developers should address issues that matter to individuals with RGNDs and their families/caregivers during Evidence-to-Decision processes, such as family-level impact and identity-related considerations. Further research is needed to capture perspectives of individuals with ID, which are underrepresented compared to family/caregivers.