Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, TX, USA.
Eur J Hum Genet. 2022 Sep;30(9):1044-1050. doi: 10.1038/s41431-022-01127-5. Epub 2022 Jun 13.
TANGO2 disorder 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 with TANGO2 disorder 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 for TANGO2 disorder (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 with TANGO2 disorder. 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 for TANGO2 patients were significantly lower (all p < 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 the TANGO2 community. This study characterizes HRQoL in patients with TANGO2 disorder across a range of ages, identifies potential targets for HRQoL improvement, and provides valuable insight into the psychosocial effects of TANGO2 disorder on patients and their families.
TANGO2 障碍是一种罕见的多系统遗传疾病，会导致间歇性发作。这种罕见疾病的生活质量和心理社会影响以前尚未研究过。为了研究与健康相关的生活质量（HRQoL）、疾病认知和生活体验，我们通过特定于疾病的社交媒体群组和研究基金会电子邮件分发列表，调查了 16 名儿童和 31 名患有 TANGO2 障碍的儿童的父母。我们通过父母代表报告和儿童自我报告使用儿科生活质量量表（PedsQL™）评估 HRQoL。父母对孩子病情的认知通过针对 TANGO2 障碍的修订后的疾病认知问卷（IPQ-R-TANGO2）进行评估。为了收集有关父母生活体验的定性数据，我们使用了新颖的开放式调查问题。TANGO2 障碍幼儿的父母代表报告的身体（78.4（21））和心理社会健康（73.4（12.8））得分最高。青少年的父母代表报告的身体健康得分最低（34.4（35.4）），青少年的心理社会健康得分最低（40.8（10.8））。与之前发表的健康儿童的 PedsQL™评分相比，TANGO2 患者的父母代表报告的综合和量表评分明显较低（均 p<0.001）。父母的 IPQ-R-TANGO2 反应（n=26）表明，父母认为该疾病有重大的负面影响。父母的开放式调查答复（n=21）强调了他们从 TANGO2 社区获得的支持。本研究描绘了 TANGO2 障碍患者在一系列年龄段的 HRQoL，确定了 HRQoL 改善的潜在目标，并为 TANGO2 障碍对患者及其家庭的心理社会影响提供了宝贵的见解。
