Endocrinology Service, Department of Pediatrics, Sainte-Justine University Hospital, and Université de Montréal, Montreal, Quebec, Canada.
J Clin Endocrinol Metab. 2012 Feb;97(2):E275-81. doi: 10.1210/jc.2011-2406. Epub 2011 Dec 7.
A decrease in muscle mass, low motor performance, and normal lumbar spine bone mineral density (BMD) have been reported in children with Prader-Willi syndrome (PWS). However, these data are limited by the fact that PWS children (who have short stature) were compared to age-matched healthy or obese individuals of normal height.
The goal of the present study was to compare bone and muscle characteristics in PWS children to sex- and age- or height-matched healthy subjects.
The study population included 17 PWS children (ages 6.2 to 17.5 yr; nine girls) who were not treated with GH. The axial skeleton was analyzed at the lumbar spine using dual-energy x-ray absorptiometry, and the appendicular skeleton (radius and tibia) was evaluated using peripheral quantitative computed tomography. Muscle parameters (mass, size, and functional parameters) were measured by dual-energy x-ray absorptiometry, peripheral quantitative computed tomography, and jumping mechanography, respectively.
Compared to height-matched controls, PWS patients had normal axial and appendicular BMD, as well as normal muscle size. Compared to age- or height-matched controls of normal weight, PWS patients had lower maximal muscle force and power relative to body mass during jumping. PWS patients had similar absolute maximal muscle force but lower absolute maximal power compared to age- or height-matched controls. Relationships between bone mass and muscle size and force were similar in PWS patients and in healthy subjects.
Relative to their height, PWS patients not treated with GH had normal axial and appendicular BMD, muscle size, and muscle-bone relationships.
已报道患有普拉德-威利综合征（PWS）的儿童肌肉质量下降、运动能力低下且正常腰椎骨矿物质密度（BMD）。然而，这些数据受到限制，因为 PWS 儿童（身材矮小）与年龄匹配的健康或肥胖但身高正常的个体进行了比较。
本研究的目的是将 PWS 儿童的骨骼和肌肉特征与性别、年龄或身高匹配的健康受试者进行比较。
研究人群包括 17 名未接受 GH 治疗的 PWS 儿童（年龄 6.2 至 17.5 岁；9 名女孩）。使用双能 X 射线吸收法对脊柱进行轴向骨骼分析，使用外周定量计算机断层扫描法对四肢骨骼（桡骨和胫骨）进行评估。肌肉参数（质量、大小和功能参数）分别通过双能 X 射线吸收法、外周定量计算机断层扫描法和跳跃力学描记法进行测量。
与身高匹配的对照组相比，PWS 患者的轴向和四肢 BMD 正常，肌肉大小正常。与体重正常的年龄或身高匹配的对照组相比，PWS 患者在跳跃时的最大肌肉力量和功率相对于体重较低。与年龄或身高匹配的对照组相比，PWS 患者的绝对最大肌肉力量相似，但绝对最大功率较低。PWS 患者的骨量与肌肉大小和力量的关系与健康受试者相似。
未接受 GH 治疗的 PWS 患者的轴向和四肢 BMD、肌肉大小和肌肉骨骼关系与身高相匹配。
