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.
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The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
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The authors would like to thank Denese Neu, the Engagement Officer at PCORI for assisting with the family conference workshops. We are also grateful to the members of the TANGO2 community, who engaged enthusiastically with this research from the start and enabled the authors to complete this project.
While engaged in this work, CNM was supported by the Medical Genetics Research Fellowship Program (T32 GM07526-42), HSS was supported by a grant from the National Human Genome Research Institute (K99HG011491) and CYM was supported by National Institutes of Health, K23-HL136932. Research reported in this publication was funded through a Patient-Centered Outcomes Research Institute® (PCORI®) Award (EAIN-11402) to SRL and by the TANGO2 Research Foundation.
The authors declare no competing interests.
This study was approved by the Institutional Review Board for Human Subjects Research at Baylor College of Medicine.
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Murali, C.N., Lalani, S.R., Azamian, M.S. et al. Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01127-5