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

<b>Background/Objectives:</b> 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. <b>Methods:</b> 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). <b>Results:</b> 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. <b>Conclusions:</b> 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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Journal
Diagnostics
Published
2025-10-07
DOI
https://doi.org/10.3390/diagnostics15192532
Primary Topic
Connective tissue disorders research
Type
article
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article

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

Yin‐Hsiu Chien, Ju‐Li Lin, Yuan-Rong Tu, Chung‐Lin Lee et al.
Diagnostics
Connective tissue disorders research
article

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

Yin‐Hsiu Chien, Ju‐Li Lin, Yuan-Rong Tu, Chung‐Lin Lee, Dau-Ming Niu, Tzu-Hung Chu, Yen‐Yin Chou, Chia‐Chi Hsu, Mei‐Chyn Chao, Hung‐Hsiang Fang, Chih‐Kuang Chuang, Huei‐Ching Chiu, Yun‐Ting Lo, Ya-Hui Chang, Pao Chin Chiu, Hsiang-Yu Lin, Shuan-Pei Lin
article en

Abstract

<b>Background/Objectives:</b> 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. <b>Methods:</b> 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). <b>Results:</b> 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. <b>Conclusions:</b> 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.

DiagnosticsVol. 15(19)
Fu Jen Catholic University (TW), Tri-Service General Hospital (TW), National Yang Ming Chiao Tung University (TW), China Medical University (TW), National Taipei University of Nursing and Health Science (TW), Mackay Memorial Hospital (TW), Taipei Veterans General Hospital (TW), Chang Gung Memorial Hospital (TW), Mackay Medical University (TW), Taichung Veterans General Hospital (TW), Linkou Chang Gung Memorial Hospital (TW), China Medical University Hospital (TW), Mackay Junior College of Medicine, Nursing and Management (TW), National Taiwan University Hospital (TW), Kaohsiung Veterans General Hospital (TW), National Cheng Kung University Hospital (TW), Changhua Christian Hospital (TW), National Defense Medical Center (TW)
Openalex Percentile: Top 70%
Connective tissue disorders research
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