Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Department of Animal Science, North Carolina State University, Kannapolis, NC, USA.
Pediatr Res. 2019 Apr;85(5):639-643. doi: 10.1038/s41390-018-0111-z. Epub 2018 Aug 9.
Low bone mass is a frequent and early complication of girls with Rett syndrome. As a consequence of the low bone mass, Rett patients are at an increased risk of fragility fractures. This study aimed to investigate the long-term influences of mobility on bone status in girls with Rett syndrome.
In 58 girls with Rett syndrome, biochemical parameters and quantitative ultrasound parameters at phalanges (amplitude-dependent speed of sound: AD-SoS and bone transmission time: BTT) were measured at baseline and after 5 and 10 years. The subjects were divided into two groups: nonambulatory (n = 28) and ambulatory (n = 30).
In nonambulatory Rett subjects, the values of AD-SoS and BTT were significantly lower than in ambulatory Rett subjects at each time point. However, during the 10-year follow-up both ambulatory and nonambulatory Rett patients showed a similar worsening in their bone status.
This longitudinal study suggests that both ambulatory and nonambulatory Rett subjects present a progressive deterioration of bone status as assessed by quantitative ultrasound parameters, and the ambulatory impairment and the nutritional status seem to play a key role in the deterioration of bone status.
低骨量是雷特综合征女孩的常见且早期并发症。由于骨量低，雷特患者骨折风险增加。本研究旨在探讨运动能力对雷特综合征女孩骨状况的长期影响。
在 58 名雷特综合征女孩中，在基线时以及 5 年和 10 年后测量了指骨的生化参数和定量超声参数（声速依赖性振幅：AD-SoS 和骨传导时间：BTT）。受试者分为两组：非运动组（n=28）和运动组（n=30）。
在非运动性雷特综合征患者中，AD-SoS 和 BTT 值在每个时间点均显著低于运动性雷特综合征患者。然而，在 10 年的随访中，运动和非运动性雷特患者的骨状况均显示出相似的恶化。
这项纵向研究表明，运动和非运动性雷特综合征患者的骨状况均通过定量超声参数评估呈进行性恶化，运动障碍和营养状况似乎在骨状况恶化中起关键作用。
