Killian John T, Lane Jane B, Lee Hye-Seung, Skinner Steve A, Kaufmann Walter E, Glaze Daniel G, Neul Jeffrey L, Percy Alan K
University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama.
University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama; University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama.
Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.
Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of severe scoliosis (≥40° Cobb angle) and surgery were examined regarding functional capabilities and specific genotypes, addressing the hypothesis that abnormal muscle tone, poor oral feeding, puberty, and delays or absence of sitting balance and ambulation may be responsible for greater risk in RTT.
The multicenter RTT Natural History Study gathered longitudinal data for classic RTT, including mutation type, scoliosis, muscle tone, sitting, ambulation, hand function, and feeding. Cox regression models were used to examine the association between scoliosis and functional characteristics. All analyses utilized SAS 9.4; two-sided P values of <0.05 were considered significant.
A total of 913 females with classic RTT were included. Scoliosis frequency and severity increased with age. Severe scoliosis was found in 251 participants (27%), 113 of whom developed severe scoliosis during the follow-up assessments; 168 (18%) had surgical correction. Severe MECP2 mutations (R106W, R168X, R255X, R270X, and large deletions) showed a higher proportion of scoliosis. Individuals developing severe scoliosis or requiring surgery were less likely to sit, ambulate, or use their hands and were more likely to have begun puberty. Significant differences were absent for epilepsy rates, sleep problems, or constipation.
Scoliosis requires vigilance regarding the risk factors noted, particularly specific mutations and the role of puberty and motor abilities. Bracing is recommended for moderate curves and surgery for severe curves in accordance with published guidelines for scoliosis management.
脊柱侧弯在雷特综合征（RTT）中较为突出。继美国自然史研究的先前报告之后，对重度脊柱侧弯（Cobb角≥40°）的发病和进展以及手术情况进行了研究，涉及功能能力和特定基因型，探讨了异常肌张力、经口喂养困难、青春期以及坐位平衡和行走延迟或缺失可能导致RTT患者风险增加的假说。
多中心RTT自然史研究收集了经典RTT的纵向数据，包括突变类型、脊柱侧弯、肌张力、坐位、行走、手部功能和喂养情况。采用Cox回归模型来研究脊柱侧弯与功能特征之间的关联。所有分析均使用SAS 9.4；双侧P值<0.05被认为具有统计学意义。
共纳入913例经典RTT女性患者。脊柱侧弯的发生率和严重程度随年龄增加而升高。251名参与者（27%）存在重度脊柱侧弯，其中113人在随访评估期间出现重度脊柱侧弯；168人（18%）接受了手术矫正。严重的MECP2突变（R106W、R168X、R255X、R270X和大片段缺失）显示脊柱侧弯的比例更高。发生重度脊柱侧弯或需要手术的个体坐位、行走或使用手部的可能性较小，且更有可能已进入青春期。癫痫发生率、睡眠问题或便秘方面无显著差异。
脊柱侧弯需要对所提及的风险因素保持警惕，特别是特定突变以及青春期和运动能力的作用。根据已发表的脊柱侧弯管理指南，建议对中度侧弯进行支具治疗，对重度侧弯进行手术治疗。
