Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Rev Paul Pediatr. 2024 Sep 9;43:e2023193. doi: 10.1590/1984-0462/2025/43/2023193. eCollection 2024.
The aim of this study was to evaluate the functioning and associated factors in children and adolescents with osteogenesis imperfecta (OI).
This is a cross-sectional study conducted on 30 children and adolescents with OI. Medical records, use of bisphosphonates, socioeconomic status, handgrip strength, balance, joint hypermobility, ambulatory level, and the Pediatric Evaluation of Disability Inventory-Computer Adaptative Test (PEDI-CAT) scores were assessed. Data is presented as mean and standard deviation and Student's t-test or Mann-Whitney U test. Categorical data is presented as frequency and analyzed using Fisher's exact test. Within-group analyses were conducted using ANCOVA or Wilcoxon signed-rank test. Correlations used Kendall's Tau-b test.
The participants involved in this study were 6-18 years old. The sample was separated into two groups according to disease severity. The moderate/severe OI group (n=10) presented a lower height and muscular strength than the mild group (n=20). Muscle weakness was observed in all participants with OI when compared with the normal population. No differences were observed between the groups in the PEDI-CAT scores except for the mobility domain. There were correlations between the PEDI-CAT mobility domain and the number of fractures, OI type, weight, and balance; there was also a correlation between the PEDI-CAT daily activities, mobility, responsibility, and social/cognitive domains.
The findings suggest that children with moderate/severe forms of OI can achieve the same function levels as children with mild OI. Fractures can have a major influence on the functional level, and treatment should focus on the prevention and rehabilitation of these events when they occur.
本研究旨在评估成骨不全症（OI）患儿和青少年的功能及其相关因素。
这是一项横断面研究，共纳入 30 名 OI 患儿和青少年。评估了病历、双膦酸盐的使用、社会经济状况、握力、平衡、关节过度活动、活动水平以及儿童残疾评估量表-计算机适应测试（PEDI-CAT）评分。数据以平均值和标准差表示，并采用学生 t 检验或曼-惠特尼 U 检验。分类数据以频率表示，并采用 Fisher 确切检验进行分析。采用协方差分析或 Wilcoxon 符号秩检验进行组内分析。相关性采用 Kendall's Tau-b 检验。
本研究参与者年龄为 6-18 岁。根据疾病严重程度将样本分为两组。中/重度 OI 组（n=10）的身高和肌肉力量均低于轻度组（n=20）。与正常人群相比，所有 OI 患者均存在肌肉无力。除移动域外，两组在 PEDI-CAT 评分上无差异。PEDI-CAT 移动域与骨折次数、OI 类型、体重和平衡之间存在相关性；PEDI-CAT 日常生活、移动、责任和社会/认知域之间也存在相关性。
研究结果表明，中/重度 OI 患儿的功能水平可与轻度 OI 患儿相同。骨折对功能水平有重大影响，治疗应侧重于预防和康复这些事件。
