Evidence map›Paper›PMID 41789483›Full record

ArticleJournal of intellectual disability research : JIDR2026

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.

Mirthe J Klein Haneveld, Louise Cox, Petri J C M Embregts, Alistair R Niemeijer, Martina C Cornel, Charlotte M W Gaasterland, Agnies M van Eeghen

Abstract readScoping Review
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of intellectual disability research : JIDR, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Mirthe J Klein HaneveldAmsterdam Reproduction & Development, Amsterdam Public Health, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.ORCID 0000-0002-0453-2608
Louise CoxAmsterdam Reproduction & Development, Amsterdam Public Health, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.
Petri J C M EmbregtsTranzo, Tilburg School of Social and Behavioural Sciences, Tilburg University, Tilburg, the Netherlands.
Alistair R NiemeijerDepartment of Care Ethics, University of Humanistic Studies, Utrecht, the Netherlands.
Martina C CornelDepartment of Human Genetics, Amsterdam Reproduction & Development, Amsterdam Public Health, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0002-5397-5544
Charlotte M W GaasterlandDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
Agnies M van EeghenAmsterdam Reproduction & Development, Amsterdam Public Health, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.ORCID 0000-0001-8149-8645

Funding

European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) 101156387
6 · The paper itself

Abstract

backgroundHealthcare 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.

methodsThis 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.

resultsOne 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.

Indexed as

CaregiversFamilyIntellectual DisabilityNeurodevelopmental DisordersPractice Guidelines as TopicRare DiseasesHumansclinical practice guidelinesdecision‐makinghealthcareintellectual disabilitiesrare conditionsvalues

Identifiers

PMID41789483
PMCPMC13143496

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.