Functional independence of Taiwanese Children with Silver-Russell Syndrome

• DOI: 10.20944/preprints202503.1965.v1
• Publication Date: 2025-03-28T00:52:39Z
• Authors: 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
• Keywords: Independence

Background: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine restriction, short stature, hemihypotrophy, characteristic facial features, body asymmetry. Methods: This study included 24 Taiwanese children SRS aged 2 years to 13 3 months who were recruited at MacKay Memorial Hospital other Taiwan hospitals between January 2013 December 2024. Functional independence was assessed using the Independence Measure for Children (WeeFIM) evaluate self-care, mobility, cognition domains. Results: The mean total WeeFIM score 106.9 ± 23.2 (range: 54–126), scores of 44.4 13.8 (maximum 56), 32.4 5.1 35), 30.2 6.0 respectively. results restricted cubic spline analysis revealed clear positive linear correlation before school age (approximately 72 months), followed plateau (P non-linearity < 0.05). Traceable molecular data available participants, whom nine (69%) had loss methylation chromosome 11p15 (11p15LOM), four (31%) maternal uniparental disomy 7 (upd(7)mat). Of children, 46% required assistance bathing, which strongly correlated self-care ability height. In contrast, most in mobility tasks such as walking stair climbing. However, some support cognitive tasks, including problem-solving, comprehension, expression. Overall, reached functional later than normative population, greatest delays Conclusions: highlights that require tasks. domains positively associated questionnaire effectively identified strengths limitations, emphasizing need individualized daily activities.