背景:软骨发育不全是一种罕见的遗传性疾病,然而侏儒症最常见的形式,以肢体缩短和不成比例的身材矮小以及肌肉骨骼变化为特征,如姿势偏差。尽管已经对软骨发育不全儿童的脊柱姿势变化进行了充分的研究,关于软骨发育不全与脊柱运动/活动能力的关系知之甚少。方法:这项初步研究旨在探讨与年龄和性别匹配的健康个体相比,软骨发育不全儿童的软骨发育不全与脊柱活动性的关系。使用无辐射反向扫描评估脊柱姿势和活动性,IdiagM360(Idiag,Fehraltorf,瑞士)。使用双向方差分析确定组间差异。结果:软骨发育不全患儿的胸椎侧屈较小[组间差异(Δ)=20.4°,95%CI0.1°-40.6°,p=0.04],腰椎屈曲(Δ=17.4°,95%CI5.5°-29.4°,p=0.006),腰部伸展(Δ=14.2°,95%CI5.7°-22.8°,p=0.002)和腰椎侧屈(Δ=19.6°,95%CI10.7°-28.4°,p<0.001)比年龄和性别匹配的健康个体,除了胸部伸展(Δ=16.5°,95%CI4.4°-28.7°,p=0.009),在软骨发育不全的儿童中更大。两组之间的整体脊柱姿势没有差异。结论:在儿童时期,软骨发育不全对脊柱活动的影响似乎大于整体脊柱姿势。这些结果还强调了考虑节段脊柱姿势的肌肉骨骼评估和旨在促进软骨发育不全儿童脊柱灵活性的康复干预措施的重要性。
Background:
Achondroplasia is a rare genetic disease, yet the most common form of dwarfism, characterized by limb shortening and disproportionate short stature along with musculoskeletal changes, such as postural deviations. Although postural changes in the spine in children with
achondroplasia have been well investigated, little is known about the association of
achondroplasia with spinal movements/mobility. Methods: This preliminary study aims to explore the association of
achondroplasia with spinal mobility in children with
achondroplasia compared to age- and sex-matched healthy individuals. Spinal posture and mobility were assessed using a radiation-free back scan, the Idiag M360 (Idiag, Fehraltorf, Switzerland). Between-group differences were determined using a two-way analysis of variance. Results: Children with achondroplasia had smaller thoracic lateral flexion [difference between groups (Δ) = 20.4°, 95% CI 0.1°-40.6°, p = 0.04], lumbar flexion (Δ = 17.4°, 95% CI 5.5°-29.4°, p = 0.006), lumbar extension (Δ = 14.2°, 95% CI 5.7°-22.8°, p = 0.002) and lumbar lateral flexion (Δ = 19.6°, 95% CI 10.7°-28.4°, p < 0.001) than age- and sex-matched healthy individuals, except for thoracic extension (Δ = 16.5°, 95% CI 4.4°-28.7°, p = 0.009) which was greater in children with achondroplasia. No differences were observed in global spinal postures between the two groups. Conclusions: Spinal mobility appears to be more influenced by achondroplasia than global spinal postures in childhood. These results also highlight the importance of considering the musculoskeletal assessment of segmental spinal postures and rehabilitative interventions aimed at promoting spinal flexibility in children with achondroplasia.