Functional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition-a cross-sectional study

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.