Fang Hung-Hsiang, Lee Chung-Lin, Chuang Chih-Kuang, Chiu Huei-Ching, Chang Ya-Hui, Tu Yuan-Rong, Lo Yun-Ting, Wu Jun-Yi, Chou Yen-Yin, Wang Chung-Hsing, Lin Shio-Jean, Chu Shao-Yin, Yang Chen, Ou Tsung-Ying, Lin Hsiang-Yu, Lin Shuan-Pei
Department of Pediatrics, MacKay Memorial Hospital, Taipei 104, Taiwan.
Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan.
Diagnostics (Basel). 2025 Apr 27;15(9):1109. doi: 10.3390/diagnostics15091109.
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. 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. 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 ( 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. 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.
Silver-Russell综合征（SRS）是一种以产前和产后生长发育迟缓为特征的遗传性疾病。受影响的个体通常表现为低出生体重、宫内生长受限、出生后身材矮小、半身发育不全、特征性面部特征和身体不对称。本研究纳入了24名年龄在2岁至13岁3个月之间的台湾SRS患儿，这些患儿于2013年1月至2024年12月期间在麦凯纪念医院和台湾其他医院招募。使用儿童功能独立性测量量表（WeeFIM）评估功能独立性，以评估自我护理、移动能力和认知领域。WeeFIM总分的平均值为106.9±23.2（范围：54 - 126），自我护理、移动能力和认知得分的平均值分别为44.4±13.8（最高56分）、32.4±5.1（最高35分）和30.2±6.0（最高35分）。受限立方样条分析结果显示，学龄前期（约72个月）之前存在明显的正线性相关，随后趋于平稳（非线性检验P<0.05）。13名参与者有可追溯的分子数据，其中9名（69%）在染色体11p15处存在甲基化缺失（11p15LOM），4名（31%）存在染色体7的母源性单亲二倍体（upd(7)mat）。在这24名儿童中，46%的儿童洗澡需要协助，这与自我护理能力和身高密切相关。相比之下，大多数儿童在行走和爬楼梯等移动任务方面具有独立性。然而，一些儿童在认知任务（包括解决问题、理解和表达）方面需要支持。总体而言，纳入研究的儿童达到功能平稳期的时间晚于正常人群，在自我护理和移动领域延迟最为明显。本研究强调，台湾SRS患儿在自我护理和认知任务方面需要支持。自我护理和移动领域的功能独立性与身高呈正相关。WeeFIM问卷有效地识别了优势和局限性，强调了在日常活动中提供个性化支持的必要性。
