Abstract：
BACKGROUND: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data.
METHODS: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected.
RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022).
CONCLUSIONS: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.
METHODS: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected.
RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022).
CONCLUSIONS: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.
摘要：
背景：骶骨发育不全（SA）包括一系列严重程度不同的临床表现，对功能和生活质量(QoL)有影响。诊断通常是围产期进行的，和预后讨论成为家长咨询的一个重要方面。这项研究让SA患者及其护理人员获得了客观的，长期患者报告的结果数据。
方法：对单个三级脊柱单元放射学证实为SA的患者进行回顾性病历回顾。然后通过电话联系患者以完成QoL问卷，包括成人的EQ-ED-5L和<16岁的EQ-ED-Y。其他信息，包括Renshaw等级，employment,还收集了生活情况和膀胱功能。
结果：确定了26例SA患者。平均年龄为23.35岁（范围为0.92-63.53），13米：17华氏度。Renshaw等级从1到4。68％的人患有脊柱后凸畸形。大多数（70％）膀胱控制受损或缺失，80%的人需要助行器来动员。20名患者完成了问卷（10名成人和10<16岁）。成人平均EQ-ED-5L指数为+0.474（范围-0.1至+0.089，1=最佳），<16年队列的较低平均值为+0.287（范围-0.54至+1）。接受脊柱融合术的患者得分明显较低（-0.08v+0.44，p=0.022）。
结论：这项研究提供了SA患者QoL的客观记录，说明了各种各样的结果，年轻人和老年人之间的差异可能反映了长期适应过程的结果。对个人的影响应根据特定的畸形和可能的潜在神经功能缺损进行仔细调整。
方法：对单个三级脊柱单元放射学证实为SA的患者进行回顾性病历回顾。然后通过电话联系患者以完成QoL问卷，包括成人的EQ-ED-5L和<16岁的EQ-ED-Y。其他信息，包括Renshaw等级，employment,还收集了生活情况和膀胱功能。
结果：确定了26例SA患者。平均年龄为23.35岁（范围为0.92-63.53），13米：17华氏度。Renshaw等级从1到4。68％的人患有脊柱后凸畸形。大多数（70％）膀胱控制受损或缺失，80%的人需要助行器来动员。20名患者完成了问卷（10名成人和10<16岁）。成人平均EQ-ED-5L指数为+0.474（范围-0.1至+0.089，1=最佳），<16年队列的较低平均值为+0.287（范围-0.54至+1）。接受脊柱融合术的患者得分明显较低（-0.08v+0.44，p=0.022）。
结论：这项研究提供了SA患者QoL的客观记录，说明了各种各样的结果，年轻人和老年人之间的差异可能反映了长期适应过程的结果。对个人的影响应根据特定的畸形和可能的潜在神经功能缺损进行仔细调整。
