Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.
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TANGO2 相关代谢性脑病和心律失常的生活质量、疾病认知和父母生活经历。
DOI：
10.1038/s41431-022-01127-5
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发表时间：
2022
期刊：
影响因子：
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通讯作者：
Smith,HadleyStevens
中科院分区：
文献类型：
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作者：
Murali,ChayaN;Lalani,SeemaR;Azamian,MahshidS;Miyake,ChristinaY;Smith,HadleyStevens
tango2障碍是一种罕见的遗传性疾病，具有多系统影响，可引起偶发性危机。这种罕见疾病的生活质量和社会心理影响以前没有研究过。为了检查健康相关的生活质量（HRQoL）、疾病认知和生活经历，我们调查了16名儿童和31名tango2障碍儿童的父母，这些儿童是通过疾病特定的社交媒体群和研究基金会的电子邮件分发列表确定的。我们通过家长代理报告和儿童自我报告评估HRQoL，使用儿科生活质量量表（PedsQL™）。使用经修订的疾病认知问卷（IPQ-R-TANGO2）评估父母对孩子病情的认知。为了收集父母生活经历的定性数据，我们采用了新颖的开放式调查问题。父母代理报告（n= 29）的身体（78.4(21)）和心理健康（73.4(12.8)）在患有tango 2障碍的幼儿中最高。父母代理报告的身体健康状况在年轻人中最低（34.4分（35.4分）），在青少年中最低（40.8分（10.8分））。与先前公布的健康儿童PedsQL™评分相比，家长代理报告的tango2患者的汇总和量表评分显著降低（均p< 0.001）。家长的IPQ-R-TANGO2反应（n= 26）表明家长认为该疾病有显著的负面影响。家长的开放式调查回应（n= 21）强调他们得到了tango2社区的支持。本研究描述了不同年龄段tango2障碍患者的HRQoL特征，确定了改善HRQoL的潜在目标，并为tango2障碍对患者及其家庭的心理社会影响提供了有价值的见解。
TANGO2disorder is a rare genetic disease with multi-system effects that causes episodic crises. Quality of life and psychosocial effects of this rare disease have not previously been studied. To examine health-related quality of life (HRQoL), illness perceptions, and lived experience, we surveyed 16 children and 31 parents of children withTANGO2disorder identified via a disease-specific social media group and research foundation email distribution list. We assessed HRQoL by parent proxy-report and child self-report using the Pediatric Quality of Life Inventory (PedsQL™). Parental perceptions of their child’s condition were assessed using the revised illness perceptions questionnaire adapted forTANGO2disorder (IPQ-R-TANGO2). To collect qualitative data on parents’ lived experience, we used novel open-ended survey questions. Parent proxy-reported (n= 29) physical (78.4 (21)) and psychosocial health (73.4 (12.8)) were highest among toddlers withTANGO2disorder. Parent proxy-reported physical health was lowest in young adults (34.4 (35.4)), and psychosocial health was lowest in teens (40.8 (10.8)). When compared to previously published PedsQL™ scores in healthy children, parent-proxy reported summary and scale scores forTANGO2patients were significantly lower (allp< 0.001). Parents’ IPQ-R-TANGO2 responses (n= 26) suggested that parents perceived significant negative consequences of the disease. Parents’ open-ended survey responses (n= 21) highlighted that they derived support from theTANGO2community. This study characterizes HRQoL in patients withTANGO2disorder across a range of ages, identifies potential targets for HRQoL improvement, and provides valuable insight into the psychosocial effects ofTANGO2disorder on patients and their families.