{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:04:03Z","timestamp":1753877043666,"version":"3.41.2"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Kyowa Kirin International"},{"name":"NIHR Rare Diseases Translational Research Collaboration"},{"name":"Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>X-linked hypophosphatemia (XLH) is a rare genetic disorder that leads to rickets, osteomalacia, and other skeletal abnormalities. Many people with XLH get support from informal caregivers, often family members, to help with their daily living. Although generally rewarding, being a caregiver can be associated with extra physiologic, physical, and mental health burdens, which are poorly researched and understood. This study aims to investigate the quality of life of people with XLH who are also caregivers of relatives with XLH. To do this, we conducted a cross-sectional study to characterize the quality of life of caregivers using both a caregiver-specific and a generic quality of life questionnaire, examined the association between the instruments for caregivers, and compared the generic quality of life between caregivers and matched non-caregivers. We used data from the Rare UK Diseases Study (RUDY), whose platform allows people with XLH to record their own characteristics and outcome measures, including the caregiver oncology quality of life questionnaire (CarGOQoL) and the generic EQ-5D. Caregivers and non-caregivers with XLH were matched on gender and age. Caregivers (n\u2009=\u200913) report not feeling burdened or seeing their self-esteem impacted by providing care, but their private life, leisure, and psychological well-being were affected. They report worse quality of life than the UK general population. CarGOQoL and EQ-5D were highly correlated (p\u2009&amp;lt;\u2009.001). Caregivers of people with XLH reported better quality of life than non-caregivers in all EQ-5D dimensions except for Anxiety\/Depression (EQ-5D score of 0.467 vs 0.356 for non-caregivers). Our findings must be interpreted with caution, given the small sample size, although they are consistent with the literature. Caregivers play an important role in supporting the everyday life of those they look after. This role should be recognized, and helpful information and tools made available to support them in that process.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf078","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T04:11:45Z","timestamp":1745986305000},"source":"Crossref","is-referenced-by-count":0,"title":["Double burdened yet resilient: quality of life of caregivers of people with X-linked hypophosphatemia"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4723-5128","authenticated-orcid":false,"given":"Rafael","family":"Pinedo-Villanueva","sequence":"first","affiliation":[{"name":"Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford , Oxford, OX3 7HE ,","place":["United Kingdom"]},{"name":"National Institute for Health Research (NIHR) Oxford Biomedical Research Centre, University of Oxford , Oxford , OX3 9DU,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Njoki","family":"Njuki","sequence":"additional","affiliation":[{"name":"Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford , Oxford, OX3 7HE ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria T","family":"Sanchez-Santos","sequence":"additional","affiliation":[{"name":"Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford , Oxford, OX3 7HE ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7985-0048","authenticated-orcid":false,"given":"Muhammad Kassim","family":"Javaid","sequence":"additional","affiliation":[{"name":"Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford , Oxford, OX3 7HE ,","place":["United Kingdom"]},{"name":"National Institute for Health Research (NIHR) Oxford Biomedical Research Centre, University of Oxford , Oxford , OX3 9DU,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"issue":"8","key":"2025062613261644600_ref1","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1002\/jbmr.3475","article-title":"A randomized, double-blind, placebo-controlled, phase 3 trial evaluating the efficacy of Burosumab, an anti-FGF23 antibody, in adults with X-linked hypophosphatemia: week 24 primary analysis","volume":"33","author":"Insogna","year":"2018","journal-title":"J Bone Miner Res"},{"issue":"7","key":"2025062613261644600_ref2","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.1210\/js.2018-00365","article-title":"The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey","volume":"3","author":"Skrinar","year":"2019","journal-title":"J Endocr Soc"},{"issue":"1","key":"2025062613261644600_ref3","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/s41687-021-00344-8","article-title":"A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy","volume":"5","author":"Williams","year":"2021","journal-title":"J Patient Rep Outcomes"},{"issue":"1","key":"2025062613261644600_ref4","doi-asserted-by":"publisher","first-page":"41","DOI":"10.3390\/ijerph16010041","article-title":"\u201cLiving an obstacle course\u201d: a qualitative study examining the experiences of caregivers of children with Rett syndrome","volume":"16","author":"Palacios-Ce\u00f1a","year":"2019","journal-title":"Int J Environ Res Public Health"},{"issue":"9","key":"2025062613261644600_ref5","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1097\/01.NAJ.0000336406.45248.4c","article-title":"Physical and mental health effects of family caregiving","volume":"108","author":"Schulz","year":"2008","journal-title":"Am J Nurs"},{"issue":"23","key":"2025062613261644600_ref6","doi-asserted-by":"publisher","first-page":"2215","DOI":"10.1001\/jama.282.23.2215","article-title":"Caregiving as a risk factor for MortalityThe caregiver health effects study","volume":"282","author":"Schulz","year":"1999","journal-title":"JAMA"},{"volume-title":"Long-Term Care in America: Expectations and Reality","year":"2014","author":"Benz","key":"2025062613261644600_ref7"},{"issue":"1","key":"2025062613261644600_ref8","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1186\/s13023-016-0528-6","article-title":"The RUDY study platform - 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