Functional Independence of Taiwanese Children with Silver–Russell Syndrome
<b>Background:</b> Silver–Russell 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...
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2025-04-01
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| author | Hung-Hsiang Fang Chung-Lin Lee Chih-Kuang Chuang Huei-Ching Chiu Ya-Hui Chang Yuan-Rong Tu Yun-Ting Lo Jun-Yi Wu Yen-Yin Chou Chung-Hsing Wang Shio-Jean Lin Shao-Yin Chu Chen Yang Tsung-Ying Ou Hsiang-Yu Lin Shuan-Pei Lin |
| author_facet | Hung-Hsiang Fang Chung-Lin Lee Chih-Kuang Chuang Huei-Ching Chiu Ya-Hui Chang Yuan-Rong Tu Yun-Ting Lo Jun-Yi Wu Yen-Yin Chou Chung-Hsing Wang Shio-Jean Lin Shao-Yin Chu Chen Yang Tsung-Ying Ou Hsiang-Yu Lin Shuan-Pei Lin |
| author_sort | Hung-Hsiang Fang |
| collection | DOAJ |
| description | <b>Background:</b> Silver–Russell 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. <b>Methods:</b> 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. <b>Results:</b> The mean total WeeFIM score was 106.9 ± 23.2 (range: 54–126), with mean self-care, mobility, and cognition scores of 44.4 ± 13.8 (maximum 56), 32.4 ± 5.1 (maximum 35), and 30.2 ± 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 (<i>p</i> for nonlinearity < 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. <b>Conclusions:</b> 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. |
| format | Article |
| id | doaj-art-b6659af8f6b64c0bae1117521edf7b72 |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-04-01 |
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| spelling | doaj-art-b6659af8f6b64c0bae1117521edf7b722025-08-20T03:49:22ZengMDPI AGDiagnostics2075-44182025-04-01159110910.3390/diagnostics15091109Functional Independence of Taiwanese Children with Silver–Russell SyndromeHung-Hsiang Fang0Chung-Lin Lee1Chih-Kuang Chuang2Huei-Ching Chiu3Ya-Hui Chang4Yuan-Rong Tu5Yun-Ting Lo6Jun-Yi Wu7Yen-Yin Chou8Chung-Hsing Wang9Shio-Jean Lin10Shao-Yin Chu11Chen Yang12Tsung-Ying Ou13Hsiang-Yu Lin14Shuan-Pei Lin15Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei 104, TaiwanInternational Rare Disease Center, MacKay Memorial Hospital, Taipei 104, TaiwanInternational Rare Disease Center, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, TaiwanDivision of Medical Genetics, Pediatric Endocrinology and Metabolism, China Medical University Children’s Hospital, China Medical University, Taichung 404, TaiwanDepartment of Pediatrics, Genetic Counseling Center, Chi Mei Medical Center, Tainan 710, TaiwanDepartment of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien 970, TaiwanDepartment of Pediatrics, Taipei Medical University Hospital, Taipei 110, TaiwanDepartment of Pediatrics, Dalin Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Chiayi 622, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan<b>Background:</b> Silver–Russell 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. <b>Methods:</b> 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. <b>Results:</b> The mean total WeeFIM score was 106.9 ± 23.2 (range: 54–126), with mean self-care, mobility, and cognition scores of 44.4 ± 13.8 (maximum 56), 32.4 ± 5.1 (maximum 35), and 30.2 ± 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 (<i>p</i> for nonlinearity < 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. <b>Conclusions:</b> 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.https://www.mdpi.com/2075-4418/15/9/1109independent livingSilver–Russell syndromeTaiwanWeeFIM |
| spellingShingle | Hung-Hsiang Fang Chung-Lin Lee Chih-Kuang Chuang Huei-Ching Chiu Ya-Hui Chang Yuan-Rong Tu Yun-Ting Lo Jun-Yi Wu Yen-Yin Chou Chung-Hsing Wang Shio-Jean Lin Shao-Yin Chu Chen Yang Tsung-Ying Ou Hsiang-Yu Lin Shuan-Pei Lin Functional Independence of Taiwanese Children with Silver–Russell Syndrome Diagnostics independent living Silver–Russell syndrome Taiwan WeeFIM |
| title | Functional Independence of Taiwanese Children with Silver–Russell Syndrome |
| title_full | Functional Independence of Taiwanese Children with Silver–Russell Syndrome |
| title_fullStr | Functional Independence of Taiwanese Children with Silver–Russell Syndrome |
| title_full_unstemmed | Functional Independence of Taiwanese Children with Silver–Russell Syndrome |
| title_short | Functional Independence of Taiwanese Children with Silver–Russell Syndrome |
| title_sort | functional independence of taiwanese children with silver russell syndrome |
| topic | independent living Silver–Russell syndrome Taiwan WeeFIM |
| url | https://www.mdpi.com/2075-4418/15/9/1109 |
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