Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale

TL;DR

This study evaluates the daily living skills of children and adolescents with achondroplasia using the WeeFIM scale, finding high independence in most areas except mobility.

Contribution

The study provides the first comprehensive assessment of functional independence in achondroplasia using the WeeFIM scale across multiple centers.

Findings

Participants showed near-complete independence in cognitive functions and high self-care abilities.

Mobility tasks like stair climbing and bathtub transfers posed the greatest challenges.

Functional independence improved significantly during the transition from childhood to adolescence.

Abstract

Background/Objectives: Achondroplasia is the most common skeletal dysplasia, affecting 1 in 25,000 births. Limited research exists on the assessment of functional independence using standardized tools in children and adolescents with achondroplasia. The WeeFIM scale provides a comprehensive evaluation of daily living skills across multiple functional domains. This study aimed to assess the functional independence levels in children and adolescents with achondroplasia using WeeFIM and analyze functional capabilities. Methods: This multicenter cross-sectional study included 46 participants aged 6–18 years with confirmed achondroplasia. Data were collected through standardized WeeFIM assessments from medical centers and online surveys (2021–2024). WeeFIM evaluates 18 functional items across 3 domains: self-care (8 items), mobility (5 items), and cognition (5 items), scored 1–7 (complete dependence to independence). Results: Participants included 26 males (56.5%) and 20 females (43.5%). Most (78.3%) were diagnosed during infancy. The mean functional scores were highest for cognition (34.0/35, 97.1%), followed by self-care (51.2/56, 91.4%) and mobility (31.5/35, 90.0%). Most participants achieved near-complete independence in cognitive functions. Mobility tasks, particularly stair climbing and bathtub transfers, showed the greatest challenges. Functional independence increased with age, with significant improvements during early childhood to adolescence transition. Conclusions: Children and adolescents with achondroplasia demonstrate high functional independence across daily activities, with cognitive abilities largely unaffected. Although specific mobility challenges exist, most participants achieve independence with appropriate accommodations. These findings provide valuable baseline data for clinical care planning and support optimistic functional outcomes for pediatric patients with achondroplasia.

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