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Taiwan","award":["NSTC-114-2314-B-715-001"],"award-info":[{"award-number":["NSTC-114-2314-B-715-001"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-114-2314-B-195-002"],"award-info":[{"award-number":["NSTC-114-2314-B-195-002"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-113-2314-B-195-003"],"award-info":[{"award-number":["NSTC-113-2314-B-195-003"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-113-2314-B-195-004"],"award-info":[{"award-number":["NSTC-113-2314-B-195-004"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-113-2314-B-715-002"],"award-info":[{"award-number":["NSTC-113-2314-B-715-002"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-113-2314-B-195-021"],"award-info":[{"award-number":["NSTC-113-2314-B-195-021"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-113-2811-B-195-001"],"award-info":[{"award-number":["NSTC-113-2811-B-195-001"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-112-2314-B-195-014-MY3"],"award-info":[{"award-number":["NSTC-112-2314-B-195-014-MY3"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-112-2811-B-195-001"],"award-info":[{"award-number":["NSTC-112-2811-B-195-001"]}]},{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["NSTC-112-2314-B-195-003"],"award-info":[{"award-number":["NSTC-112-2314-B-195-003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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\u201318 years with confirmed achondroplasia. Data were collected through standardized WeeFIM assessments from medical centers and online surveys (2021\u20132024). WeeFIM evaluates 18 functional items across 3 domains: self-care (8 items), mobility (5 items), and cognition (5 items), scored 1\u20137 (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.<\/jats:p>","DOI":"10.3390\/diagnostics15192532","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T12:46:56Z","timestamp":1759841216000},"page":"2532","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8178-6938","authenticated-orcid":false,"given":"Chung-Lin","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, Mackay Medical University, New Taipei City 252, Taiwan"},{"name":"Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5652-8486","authenticated-orcid":false,"given":"Hung-Hsiang","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 114202, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, Taipei 242062, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3962-1739","authenticated-orcid":false,"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0983-2009","authenticated-orcid":false,"given":"Ju-Li","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Pediatric Endocrinology, Linkou Chang Gung Memorial Hospital, Taoyuan 333, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Chyn","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Changhua Christian Children\u2019s Hospital, Changhua 500, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yen-Yin","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Cheng Kung University Hospital, Tainan 704, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pao Chin","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung 813414, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Chi","family":"Hsu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics and Metabolism, Children\u2019s Medical Center, Taichung Veterans General Hospital, Taichung 407219, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5756-9447","authenticated-orcid":false,"given":"Tzu-Hung","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, China Medical University Hsinchu Hospital, Hsinchu 302, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8802-5728","authenticated-orcid":false,"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei 100225, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huei-Ching","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Rong","family":"Tu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, Mackay Medical University, New Taipei City 252, Taiwan"},{"name":"Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan"},{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40447, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, Mackay Medical University, New Taipei City 252, Taiwan"},{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 108306, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1002\/ajmg.a.32485","article-title":"The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US","volume":"146A","author":"Waller","year":"2008","journal-title":"Am. 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