biostudies-literatureMurali CNU.S. Department of Health & Human Services | NIH | National Institute of General Medical SciencesNHLBI NIH HHSU.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood InstituteNHGRI NIH HHSU.S. Department of Health & Human Services | NIH | National Human Genome Research InstituteNIGMS NIH HHSPatient-Centered Outcomes Research Institute1044-1050https://www.ebi.ac.uk/biostudies/studies/S-EPMC9436934biostudies-literatureUnknown30(9)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 European journal of human genetics : EJHGQuality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.PMC9436934K99 HG011491GM07526-42K23 HL136932K23-HL136932T32 GM007526K99HG011491Smith HSLalani SRMiyake CYAzamian MSMurali CNfalseQuality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.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 2022-01-01T00:00:00Z2022 Sep2025-04-04T07:44:59.919Z2025-04-04T07:44:59.919ZS-EPMC94369343569198310.1038/s41431-022-01127-5