ArticleSage open pediatrics
Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.
Article in Sage open pediatrics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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.
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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.
Who cites it
4 citing papers in PubMed.
- Patient and caregiver knowledge as a driver of basic science.Nature reviews. Disease primers · 2026Article
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.Orphanet journal of rare diseases · 2026Article
- The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Genes · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Kleefstra syndrome (KLEFS1) is a rare neurodevelopmental genetic condition caused by the loss of function of Methodology: We conducted semi-structured interviews with 16 caregivers of individuals under 18 years of age with KLEFS1 and 2 healthcare providers (HCPs). Interviews were coded using NVivo and emergent themes were grouped into 4 categories: (1) Results: Defining pediatric KLEFS1 features referenced by the greatest number of caregivers included Conclusions: The developed pediatric KLEFS1 DCM is a valuable patient-centered conceptualization, providing insight into the lived experiences of affected individuals and caregivers. Challenges with communication, physical mobility, as well as emotional and behavioral regulation were identified as having the most impact on daily life and may serve as targets for KLEFS1-specific interventions. Endpoint measures that assess the success of interventions should prioritize independence with activities of daily living and self-care tasks, as well as social behaviors and skills.
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