Individuals with skeletal dysplasia (SD) experience physical challenges in performing everyday activities as a result of their altered biomechanics and systemic comorbidities. The purpose of this study was to objectively assess functional performance and identify symptomatology across self-care, mobility, and cognitive tasks among adults with SD. The secondary aim was to describe any differences in performance between individuals with proportionate forms of SD compared with those with disproportionate forms. A cross-sectional online survey and functional assessment, the Functional Independence Measure (FIM), was administered to adults diagnosed with SD. Summary statistics were computed and analyzed. Survey open-ended text responses were examined. Data were collected on 40 adults (median age 41.2 yr) presenting with 10 types of SD (14 with proportionate SD, 26 disproportionate SD). A total of 39 (97.5%) participants required assistance or modification when completing functional activities. Increased reliance on assistance was observed across self-care and mobility tasks (median FIM scores 51/56 and 31.5/35 respectively), compared with cognitive items (median FIM score 34.5/35). Up to 50% of participants reported experiencing pain, fatigue, and/or other symptoms during self-care and mobility tasks. These symptoms were more prevalent when completing self-care activities at home and when mobilizing in the community. Participants with proportionate forms of SD demonstrated higher levels of independence in upper body dressing, toileting, and bed/chair/wheelchair transfers, whereas participants with disproportionate forms had higher scores in eating and grooming tasks. Adults with SD demonstrated functional challenges and symptomatology associated with activities of daily living. Overall, there are minimal differences in FIM scores between individuals with proportionate forms of SD and those with disproportionate forms. Use of assistive equipment, modifications, and allowing extra time with tasks may improve independence among this population group.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11848032 | PMC |
| http://dx.doi.org/10.1093/jbmrpl/ziaf008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The effects of family directed power mobility on self-care, mobility, and social function in very young children with severe multiple developmental impairments.
Front Rehabil Sci
February 2025
Department of Physical Therapy, University of North Florida, Jacksonville, FL, United States.
Introduction: Children with impaired mobility often experience negative impact on overall development leading to depression, social isolation, and perceived lower quality of life.
Objective: Our study explored the effects of Power Mobility Devices (PMD), in the form of modified ride-on toy cars with two distinct activation/steering technologies, on functional independent and social function in young children with severe multiple developmental impairments.
Methodology: Twelve children (age range 12-54 months) with neuromuscular, musculoskeletal, and genetic diagnoses, and metabolic progressive diseases participated.
Objectives: Despite being a common side effect of stoma surgery, little is known about the health-related quality-of-life (HRQoL) impact of parastomal hernia (PSH). We studied the association between HRQoL and self-reported PSH using data from the large CIPHER prospective cohort study of patients living with a stoma.
Methods: Over 12 months, HRQoL was captured at up to four time points for 2,341 individuals with stomas using EuroQol-5D-5L (EQ-5D-5L).
Being autonomous in dialysis: association with occupational status, social activity level, quality of life, and physical activity level.
Nephrol Ther
March 2025
REIN Registry, Agence de la biomédecine, Saint-Denis La Plaine, France
Article Synopsis
- The study examined the impact of different autonomous dialysis methods on patients' lives in France, focusing on work, social activities, and quality of life.
- About 33% of the participants held paid jobs, with varying levels of physical activity reported, while most patients experienced minimal issues with mobility, self-care, and overall health status.
- The findings indicate that while dialysis significantly influences professional and social aspects of life, differences between the various dialysis methods were limited.
Introduction: This study aims to assess the feasibility, acceptability, and validity of EQ-5D instrument administration methods and proxy selection for evaluating health-related quality of life (HRQoL) in dementia populations. EQ-5D is a widely used measure of HRQoL and is recommended by the National Institute for Health and Care Excellence for cost-effectiveness analyses of health interventions.
Methods: Individual-level data from three trials were analyzed separately to evaluate missing data rates, inter-rater agreement, responsiveness, and predictors of EQ-5D (EQ-5D-3L and EQ-5D-5L) dimensions and index values.
Gendered social determinants of health and risk of major adverse outcomes in atrial fibrillation.
Eur J Intern Med
March 2025
Department of Epidemiology and Biostatistics, Research Institute of the McGill University, Montreal, Canada; Health Center. Electronic address:
Introduction: Atrial fibrillation (AF) is associated with an increased risk of adverse outcomes. Clinical risk factors have been identified as predictors of such outcomes, but social determinants of health (SDOH) may also play a role. We evaluated the associations between gendered SDOH (unevenly distributed between sexes) and adverse outcomes in AF.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!