{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:12:54Z","timestamp":1760058774587,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"MacKay Memorial Hospital","award":["MMH-E-114-13","MMH-MM-113-13","MMH-E-113-13","MMH-MM-112-14","MMH-E-112-13","NSTC-113-2314-B-195-003","NSTC-113-2314-B-195-004","NSTC-113-2314-B-715-002","NSTC-113-2314-B-195-021","NSTC-113-2811-B-195-001","NSTC-112-2314-B-195-014-MY3","NSTC-112-2811-B-195-001","NSTC-112-2314-B-195-003","NSTC-111-2314-B-195-017","NSTC-111-2811-B-195-002","NSTC-111-2811-B-195-001","NSTC-110-2314-B-195-014","NSTC-110-2314-B-195-010-MY3","NSTC-110-2314-B-195-029"],"award-info":[{"award-number":["MMH-E-114-13","MMH-MM-113-13","MMH-E-113-13","MMH-MM-112-14","MMH-E-112-13","NSTC-113-2314-B-195-003","NSTC-113-2314-B-195-004","NSTC-113-2314-B-715-002","NSTC-113-2314-B-195-021","NSTC-113-2811-B-195-001","NSTC-112-2314-B-195-014-MY3","NSTC-112-2811-B-195-001","NSTC-112-2314-B-195-003","NSTC-111-2314-B-195-017","NSTC-111-2811-B-195-002","NSTC-111-2811-B-195-001","NSTC-110-2314-B-195-014","NSTC-110-2314-B-195-010-MY3","NSTC-110-2314-B-195-029"]}]},{"name":"Ministry of Science and Technology","award":["MMH-E-114-13","MMH-MM-113-13","MMH-E-113-13","MMH-MM-112-14","MMH-E-112-13","NSTC-113-2314-B-195-003","NSTC-113-2314-B-195-004","NSTC-113-2314-B-715-002","NSTC-113-2314-B-195-021","NSTC-113-2811-B-195-001","NSTC-112-2314-B-195-014-MY3","NSTC-112-2811-B-195-001","NSTC-112-2314-B-195-003","NSTC-111-2314-B-195-017","NSTC-111-2811-B-195-002","NSTC-111-2811-B-195-001","NSTC-110-2314-B-195-014","NSTC-110-2314-B-195-010-MY3","NSTC-110-2314-B-195-029"],"award-info":[{"award-number":["MMH-E-114-13","MMH-MM-113-13","MMH-E-113-13","MMH-MM-112-14","MMH-E-112-13","NSTC-113-2314-B-195-003","NSTC-113-2314-B-195-004","NSTC-113-2314-B-715-002","NSTC-113-2314-B-195-021","NSTC-113-2811-B-195-001","NSTC-112-2314-B-195-014-MY3","NSTC-112-2811-B-195-001","NSTC-112-2314-B-195-003","NSTC-111-2314-B-195-017","NSTC-111-2811-B-195-002","NSTC-111-2811-B-195-001","NSTC-110-2314-B-195-014","NSTC-110-2314-B-195-010-MY3","NSTC-110-2314-B-195-029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Silver\u2013Russell syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine growth restriction, postnatal short stature, hemihypotrophy, characteristic facial features, and body asymmetry. Methods: This study includes 24 Taiwanese children with SRS aged 2 years to 13 years and 3 months who were recruited at MacKay Memorial Hospital and other Taiwan hospitals between January 2013 and December 2024. Functional independence was assessed using the Functional Independence Measure for Children (WeeFIM) to evaluate self-care, mobility, and cognition domains. Results: The mean total WeeFIM score was 106.9 \u00b1 23.2 (range: 54\u2013126), with mean self-care, mobility, and cognition scores of 44.4 \u00b1 13.8 (maximum 56), 32.4 \u00b1 5.1 (maximum 35), and 30.2 \u00b1 6.0 (maximum 35), respectively. The results of the restricted cubic spline analysis reveal a clear positive linear correlation before school age (approximately 72 months), followed by a plateau (p for nonlinearity &lt; 0.05). Traceable molecular data were available for thirteen participants, of whom nine (69%) had loss of methylation at chromosome 11p15 (11p15LOM), and four (31%) had maternal uniparental disomy of chromosome 7 (upd(7)mat). Of the 24 children, 46% required assistance with bathing, which was strongly correlated with self-care ability and body height. In contrast, most of the children had independence in mobility tasks such as walking and stair climbing. However, some required support in cognitive tasks, including problem-solving, comprehension, and expression. Overall, the included children reached a functional plateau later than the normative population, with the greatest delays in self-care and mobility domains. Conclusions: This study highlights that Taiwanese children with SRS require support in self-care and cognitive tasks. Functional independence in self-care and mobility domains was positively associated with body height. The WeeFIM questionnaire effectively identified strengths and limitations, emphasizing the need for individualized support in daily activities.<\/jats:p>","DOI":"10.3390\/diagnostics15091109","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T04:25:50Z","timestamp":1745814350000},"page":"1109","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional Independence of Taiwanese Children with Silver\u2013Russell Syndrome"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5652-8486","authenticated-orcid":false,"given":"Hung-Hsiang","family":"Fang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8178-6938","authenticated-orcid":false,"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 112, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 252, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, Taipei 242, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huei-Ching","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 104, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan-Rong","family":"Tu","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 104, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 104, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-Yi","family":"Wu","sequence":"additional","affiliation":[{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 104, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen-Yin","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0395-6123","authenticated-orcid":false,"given":"Chung-Hsing","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Pediatric Endocrinology and Metabolism, China Medical University Children\u2019s Hospital, China Medical University, Taichung 404, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-7256","authenticated-orcid":false,"given":"Shio-Jean","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic Counseling Center, Chi Mei Medical Center, Tainan 710, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shao-Yin","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien 970, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Medical University Hospital, Taipei 110, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsung-Ying","family":"Ou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dalin Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Chiayi 622, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 104, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 252, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 112, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 404, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"International Rare Disease Center, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 252, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 104, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.beem.2010.06.005","article-title":"Silver-Russell syndrome","volume":"25","author":"Binder","year":"2011","journal-title":"Best. 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