Challenges to self-care and domestic life for adults with disproportionate short statured skeletal dysplasia: a mixed method systematic review

Purpose: This review aims to assess the impact of pain and limitations across self-care and domestic tasks among adults with disproportionate short statured skeletal dysplasia (SD). Methods: A systematic search was conducted across six electronic databases without language or year of publication restrictions from the date of inception of each database through to 31 July 2024. Clear inclusion criteria were established before search initiation and quality assessment was performed using the Mixed Methods Appraisal Tool (MMAT). Results: Eight studies including 1,114 adults (mean age 33.1 years) met the inclusion criteria, demonstrating high methodological quality (MMAT ranging from 80 to 100%). Challenges in self-care and domestic tasks were prevalent among adults with disproportionate short statured SD. Personal hygiene (65.6%, 95% confidence interval (95%CI): 55.3–74.6%), donning/doffing shoes (54.3%, 95%CI: 38.2–70.0%), and reaching objects (20.2%, 95%CI: 16.8–24.1%) were the most prevalent difficulties, generally falling within low-moderate difficulty. Studies consistently identified mild-intensity pain adversely affected adult’s abilities to complete daily activities. Due to the significant heterogeneity of included studies, a meta-analysis was not conducted. Conclusions: Adults with disproportionate short statured SD experience challenges in self-care and domestic tasks, alongside a notable trend that suggests a higher prevalence of pain is linked to increased difficulty in completing daily tasks.