PDF(Pubmed)
Abstract：
BACKGROUND: This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL in this population. Sixty-three children with MFS and 124 age- and sex-matched healthy children were recruited. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™) generic questionnaire. The correlation between HRQoL scores and the different continuous parameters (age, body mass index, disease severity, systemic score, aortic sinus diameter, and aerobic physical capacity) was evaluated using Pearson\'s or Spearman\'s coefficient. A multiple linear regression analysis was performed on the two health summary self-reported PedsQL™ scores (physical and psychosocial) to identify the factors associated with HRQoL in the MFS group.
RESULTS: Except for emotional functioning, all other domains of HRQoL (psychosocial and physical health, social and school functions) were significantly lower in children with MFS compared to matched healthy children. In the MFS group, the physical health summary score was significantly lower in female than in male patients (self-report: absolute difference [95%CI] = -8.7 [-17.0; -0.47], P = 0.04; proxy-report: absolute difference [95%CI] = -8.6 [-17.3; 0.02], P = 0.05) and also negatively correlated with the systemic score (self-report: R = -0.24, P = 0.06; proxy-report: R = -0.29, P = 0.03) and with the height Z-score (proxy-report: R = -0.29, P = 0.03). There was no significant difference in the physical health summary scores between the different genetic subgroups. In the subgroup of 27 patients who performed a cardiopulmonary exercise test, self- and proxy-reported physical health summary scores were highly correlated with their aerobic physical capacity assessed by peak oxygen consumption (VO2max) and ventilatory anaerobic threshold (VAT). In the multivariate analysis, the most important independent predictors of decreased physical health were increased height, decreased body mass index, decreased VAT and use of prophylactic therapy.
CONCLUSIONS: This study reports an impaired HRQoL in children and adolescents with MFS or related conditions, in comparison with matched healthy children. Educational and rehabilitation programs must be developed and evaluated to improve exercise capacity and HRQoL in these patients.
BACKGROUND: ClinicalTrials.gov, NCT03236571 . Registered 28 July 2017.
RESULTS: Except for emotional functioning, all other domains of HRQoL (psychosocial and physical health, social and school functions) were significantly lower in children with MFS compared to matched healthy children. In the MFS group, the physical health summary score was significantly lower in female than in male patients (self-report: absolute difference [95%CI] = -8.7 [-17.0; -0.47], P = 0.04; proxy-report: absolute difference [95%CI] = -8.6 [-17.3; 0.02], P = 0.05) and also negatively correlated with the systemic score (self-report: R = -0.24, P = 0.06; proxy-report: R = -0.29, P = 0.03) and with the height Z-score (proxy-report: R = -0.29, P = 0.03). There was no significant difference in the physical health summary scores between the different genetic subgroups. In the subgroup of 27 patients who performed a cardiopulmonary exercise test, self- and proxy-reported physical health summary scores were highly correlated with their aerobic physical capacity assessed by peak oxygen consumption (VO2max) and ventilatory anaerobic threshold (VAT). In the multivariate analysis, the most important independent predictors of decreased physical health were increased height, decreased body mass index, decreased VAT and use of prophylactic therapy.
CONCLUSIONS: This study reports an impaired HRQoL in children and adolescents with MFS or related conditions, in comparison with matched healthy children. Educational and rehabilitation programs must be developed and evaluated to improve exercise capacity and HRQoL in these patients.
BACKGROUND: ClinicalTrials.gov, NCT03236571 . Registered 28 July 2017.
摘要：
背景：这项横断面对照研究旨在评估分子诊断为马凡氏综合征（MFS）或相关疾病的儿童和青少年的健康相关生活质量（HRQoL），并评估该人群中与HRQoL相关的因素。招募了63名MFS儿童和124名年龄和性别匹配的健康儿童。使用儿科生活质量量表（PedsQL™）通用问卷评估HRQoL。HRQoL评分与不同连续参数(年龄，身体质量指数,疾病严重程度,系统评分，主动脉窦直径,和有氧身体能力）使用皮尔逊系数或斯皮尔曼系数进行评估。对两个健康总结自我报告的PedsQL™评分（身体和社会心理）进行了多元线性回归分析，以确定MFS组中与HRQoL相关的因素。
结果：除了情绪功能，HRQoL的所有其他领域(心理社会和身体健康，与匹配的健康儿童相比，MFS儿童的社会和学校功能）显着降低。在MFS组中，女性患者的身体健康总得分明显低于男性患者（自我报告：绝对差异[95CI]=-8.7[-17.0;-0.47]，P=0.04；代理报告：绝对差异[95CI]=-8.6[-17.3；0.02]，P=0.05），并且与系统评分（自我报告：R=-0.24，P=0.06；代理报告：R=-0.29，P=0.03）和身高Z评分（代理报告：R=-0.29，P=0.03）呈负相关。不同遗传亚组之间的身体健康总结得分没有显着差异。在进行心肺运动试验的27名患者的亚组中，自我报告和代理人报告的身体健康总得分与通过峰值耗氧量(VO2max)和通气无氧阈值(VAT)评估的有氧身体能力高度相关.在多变量分析中，身体健康下降的最重要的独立预测因素是身高增加，体重指数下降，降低增值税和使用预防性治疗。
结论：本研究报告患有MFS或相关疾病的儿童和青少年的HRQoL受损，与匹配的健康儿童相比。必须制定和评估教育和康复计划，以改善这些患者的运动能力和HRQoL。
背景：ClinicalTrials.gov，NCT03236571。2017年7月28日注册
结果：除了情绪功能，HRQoL的所有其他领域(心理社会和身体健康，与匹配的健康儿童相比，MFS儿童的社会和学校功能）显着降低。在MFS组中，女性患者的身体健康总得分明显低于男性患者（自我报告：绝对差异[95CI]=-8.7[-17.0;-0.47]，P=0.04；代理报告：绝对差异[95CI]=-8.6[-17.3；0.02]，P=0.05），并且与系统评分（自我报告：R=-0.24，P=0.06；代理报告：R=-0.29，P=0.03）和身高Z评分（代理报告：R=-0.29，P=0.03）呈负相关。不同遗传亚组之间的身体健康总结得分没有显着差异。在进行心肺运动试验的27名患者的亚组中，自我报告和代理人报告的身体健康总得分与通过峰值耗氧量(VO2max)和通气无氧阈值(VAT)评估的有氧身体能力高度相关.在多变量分析中，身体健康下降的最重要的独立预测因素是身高增加，体重指数下降，降低增值税和使用预防性治疗。
结论：本研究报告患有MFS或相关疾病的儿童和青少年的HRQoL受损，与匹配的健康儿童相比。必须制定和评估教育和康复计划，以改善这些患者的运动能力和HRQoL。
背景：ClinicalTrials.gov，NCT03236571。2017年7月28日注册
