雷特综合征女童的脊柱融合术：术后恢复及家庭经历
Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.
作者信息
Marr C, Leonard H, Torode I, Downs J
机构信息
School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia.
Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.
出版信息
Child Care Health Dev. 2015 Nov;41(6):1000-9. doi: 10.1111/cch.12243. Epub 2015 Mar 9.
BACKGROUND
Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if the scoliosis is progressive. This qualitative study investigated recovery of girls with Rett syndrome during the first 12 post-operative months and explored family perspectives and coping around the time of surgery.
METHOD
Parents registered with the population-based Australian Rett Syndrome Database were recruited to this study if their daughter had a confirmed pathogenic MECP2 mutation and spinal fusion between 2006 and 2012. Twenty-five interviews were conducted to determine their daughter's recovery and parental stresses and coping. Themes in the interview data were identified with content analysis, and the regaining of gross motor skills over the first 12 post-operative months was described with time-to-event (survival) analysis.
RESULTS
Pain and energy levels, appetite, mood and coinciding health issues influenced their daughter's post-operative recovery. The majority of girls recovered preoperative sitting (88%), standing (81%) and walking (80%) by 12 months. The decision to proceed with surgery was associated with feelings of fear, obligation, relief and guilt for families. Development of complications, poor support and feelings of isolation increased their emotional burden whereas adequate information and discharge preparation, confidence in self and staff, and balancing personal needs with their daughter's care relieved this burden.
INTERPRETATION
Our study identified clinical practice issues in relation to families whose daughter with Rett syndrome undergoes spinal fusion, issues that are also relevant to other severe disabilities. Return of wellness and gross motor skills following spinal fusion in girls with Rett syndrome occurred within the first 12 post-operative months in most cases. Parents require information and practical support to alleviate their emotional burden.
背景
雷特综合征是一种主要影响女性的严重神经发育障碍，脊柱侧弯是常见的合并症。如果脊柱侧弯呈进行性发展，可能会建议进行脊柱融合手术。这项定性研究调查了雷特综合征女孩术后12个月内的恢复情况，并探讨了手术前后家庭的观点及应对方式。
方法
如果其女儿在2006年至2012年间确诊患有致病性MECP2突变并接受了脊柱融合手术，那么在以人群为基础的澳大利亚雷特综合征数据库中登记的父母将被纳入本研究。进行了25次访谈，以确定其女儿的恢复情况以及父母的压力和应对方式。通过内容分析确定访谈数据中的主题，并采用事件时间（生存）分析来描述术后12个月内粗大运动技能的恢复情况。
结果
疼痛程度、精力水平、食欲、情绪以及同时出现的健康问题影响了女儿的术后恢复。大多数女孩在12个月时恢复了术前的坐姿（88%）、站姿（81%）和行走能力（80%）。对家庭而言，决定进行手术伴随着恐惧、责任、解脱和内疚等情绪。并发症的出现、支持不足和孤独感增加了他们的情感负担，而充足的信息和出院准备、对自己和医护人员的信心以及平衡个人需求与女儿的护理则减轻了这种负担。
解读
我们的研究确定了与患有雷特综合征的女儿接受脊柱融合手术的家庭相关的临床实践问题，这些问题也与其他严重残疾相关。大多数情况下，雷特综合征女孩脊柱融合术后健康状况和粗大运动技能在术后12个月内恢复。父母需要信息和实际支持来减轻他们的情感负担。
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