# Functional Independence of Taiwanese Children with Silver–Russell Syndrome

## TL;DR

This study evaluates the functional independence of 24 Taiwanese children with Silver–Russell syndrome, finding they need support in self-care and cognitive tasks.

## Contribution

The study provides insights into functional independence in Taiwanese children with SRS using the WeeFIM assessment.

## Key findings

- Children with SRS reached a functional plateau later than normative populations, with delays in self-care and mobility.
- Body height was positively associated with functional independence in self-care and mobility tasks.
- Most children were independent in mobility tasks like walking but required support in cognitive tasks.

## Abstract

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 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 ± 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 (p 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. 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.