{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Murali CN"],"funding":["U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences","NHLBI NIH HHS","U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute","NHGRI NIH HHS","U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute","NIGMS NIH HHS","Patient-Centered Outcomes Research Institute"],"pagination":["1044-1050"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9436934"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(9)"],"pubmed_abstract":["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 "],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias."],"pmcid":["PMC9436934"],"funding_grant_id":["K99 HG011491","GM07526-42","K23 HL136932","K23-HL136932","T32 GM007526","K99HG011491"],"pubmed_authors":["Smith HS","Lalani SR","Miyake CY","Azamian MS","Murali CN"],"additional_accession":[]},"is_claimable":false,"name":"Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.","description":"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 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-04T07:44:59.919Z","creation":"2025-04-04T07:44:59.919Z"},"accession":"S-EPMC9436934","cross_references":{"pubmed":["35691983"],"doi":["10.1038/s41431-022-01127-5"]}}