ArticleJournal of genetic counseling2025
Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature.
Article in Journal of genetic counseling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
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.
Who cites it
1 citing paper in PubMed.
- Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review.Advances in therapy · 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
4 authors.
Funding
Abstract
Developing increased independence is a primary goal of the transition to adulthood. Individuals with disabilities may face additional challenges in developing and maintaining independence during this transition. While clinical presentations associated with many skeletal dysplasias have been documented, recent research investigating how skeletal dysplasia affects independence in young adulthood is limited. We sought to understand and describe how young adults with short stature and skeletal dysplasia define independence, the barriers they face in achieving and maintaining independence, and the resources they leverage to support their independence. We conducted virtual semi-structured qualitative interviews with 10 young adults (ages 18-28 years) with short stature and skeletal dysplasia. Interviews were transcribed and analyzed using a modified constructivist grounded theory methodology. Skeletal dysplasia diagnoses among the interviewed cohort include achondroplasia, osteogenesis imperfecta, spondyloepiphyseal dysplasia tarda, spondyloepimetaphyseal dysplasia, and acromicric/geleophysic dysplasia. Participants' experiences with independence are described through four major categories: prioritizing self-sufficiency, accommodating tension, identifying obstacles, and incorporating facilitators. Considering these categories, we propose that for young adults with short stature and skeletal dysplasia, independence is a balancing act between self-sufficiency and accepting needed assistance. Based on these results, providers can recognize independence as a balancing act between competing priorities, and investigate and support patients' individual priorities. Providers can also explore patients' coping strategies, provide anticipatory guidance, connect individuals to others with shared experiences, learn about available adaptive equipment, and evaluate their clinic environments for accessibility.
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Registered trials
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.