Functional Independence of Taiwanese Children with Osteogenesis Imperfecta
Yu-Min Syu1,2, Chung-Lin Lee2,3,4, Chih-Kuang Chuang5,6
1Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 22021, Taiwan.
Insights
Osteogenesis imperfecta (OI) in Taiwanese children significantly impacts functional independence, particularly in mobility and self-care. Body height and OI type correlate with functional abilities, highlighting the need for tailored support.
Area of Science:
- Pediatrics
- Genetics
- Orthopedics
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and deformities.
- OI significantly impacts children's daily lives, necessitating an understanding of their functional independence.
- Assessing functional limitations is crucial for providing appropriate care and support to affected children.
Purpose of the Study:
- To evaluate the functional independence of Taiwanese children with Osteogenesis imperfecta (OI).
- To identify factors influencing functional limitations in children with OI.
- To assess the utility of the Functional Independence Measure for Children (WeeFIM) in this population.
Main Methods:
- A cohort of 27 Taiwanese children (2-21 years) with OI was recruited.
- The Functional Independence Measure for Children (WeeFIM) questionnaire was used to assess functional independence.
- Data were analyzed to identify correlations between WeeFIM scores, OI type, age, sex, genetic variants, and body height.
Main Results:
- The mean total WeeFIM score was 113.7 out of 126, indicating moderate functional independence.
- Significant differences in scores were observed across OI types (I, III, and IV).
- Mobility (87.12%) and self-care (91.14%) domains showed greater limitations compared to cognition (99.05%).
- Functional independence in self-care and mobility correlated positively with body height.
- Over 40% of patients required assistance with bathing tasks.
Conclusions:
- Functional independence in Taiwanese children with OI varies significantly by OI type and is influenced by body height.
- Mobility and self-care present the greatest challenges, requiring support and supervision.
- The WeeFIM questionnaire is a valuable tool for assessing functional strengths and weaknesses in children with OI.
Abstract:
Osteogenesis imperfecta (OI) is a group of rare genetic disorders that affect bone formation. Patients with OI present mainly with increased bone fragility and bone deformities. Twenty-seven Taiwanese children between 2 and 21 years of age with OI and their parents were recruited at MacKay Memorial Hospital from January 2013 to December 2019. We used the Functional Independence Measure for Children (WeeFIM) questionnaire to assess the functional independence of the children and describe any functional limitations or additional burden of daily care. Out of a potential score of 126, the mean total WeeFIM score was 113.7. There was a statistically significant difference between the scores of type I, type III and type IV OI (121.88 [SD 7.01] vs. 80.8 [SD 26.25] vs. 119.17 [SD 10.89]; p < 0.001). There were no statistically significant differences between the scores in different age groups, the male and female participants, and patients with pathogenic variants in COL1A1 and COL1A2. The mean scores for the self-care, mobility, and cognition domains were 48.78 (maximum 56, mean quotient 91.14%), 30.44 (maximum 35, mean quotient 87.12%), and 34.44 (maximum 35, mean quotient 99.05%), respectively. The best performance was in the cognition domain (mean quotient 99.05%), and the worst was in the mobility domain (mean quotient 87.12%). There were no statistically significant correlations between WeeFIM scores and age, or age when symptoms began. The total WeeFIM score and 13 subscores for the self-care and mobility domains were all positively correlated with body height (p < 0.01). The correlation was lowest for bowel and walking/wheelchair tasks, and the highest for bathing and dressing-upper tasks. For tasks in bathing, over 40% of the patients needed help. For tasks in the cognition domain, most patients required no help. For the Taiwanese children with OI, some support and supervision were required for self-care and mobility tasks, and the functional independence in these two domains was correlated with body height and disease types. The WeeFIM questionnaire may be a useful tool to assess the functional strengths and weaknesses of children with OI.
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