Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.
Caregivers still do most of the talking in rare-disorder guidelines, so you must work harder to record the client’s own healthcare values.
01Research in Context
What this study did
The team read 125 papers about healthcare for people with rare genetic disorders.
They pulled out every mention of what families and clients say matters most.
The goal was to build a list of values that future guideline writers must include.
What they found
Four big values showed up again and again: autonomy, person-centred care, easy access, and no stigma.
Caregivers spoke most of the time; the client’s own voice was often missing.
Guideline writers need to hunt for the individual’s wishes, not just the family’s.
How this fits with other research
Anonymous (2023) checked 70 rare-disorder guidelines and found most are weak on method and implementation. Franke et al. (2026) now shows those same guidelines also skip family values.
Lotan et al. (2010) and Hooren et al. (2002) warned years ago that autonomy must stay with the adult client. The new review proves this warning is still needed.
Vallury et al. (2025) show women with ID can make their own choices when given support. Franke et al. (2026) agrees and says guideline panels must build that support into every step.
Why it matters
When you sit on a guideline panel, start each meeting by asking, ‘What does the client value?’ Use plain-language surveys or pictorial choice cards to capture the person’s own words. Add a family-impact section, but keep it separate from the client section. This simple split keeps guidelines ethical and useful.
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02At a glance
03Original abstract
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.
Journal of intellectual disability research : JIDR, 2026 · doi:10.1111/jir.70097