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This study aimed to describe caregiver experiences, including management of children\u2019s needs at home, and the impacts of that management on family time, finances, and caregiver and child health-related quality of life (HRQoL).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this sub-study within a larger cohort study, participants were family caregivers of children\u2009\u2264\u200912 years old diagnosed with an IMD, from across Canada. We collected cross-sectional data using an online questionnaire consisting of validated measures and team-developed questions, and analyzed data descriptively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seventy-one caregivers participated and reported using a range of supports and interventions to care for their children with IMDs, with dietary supports being most common (77.1%). Twenty-seven participants (45%) reported spending\u2009\u2265\u20094 extra hours per week assisting their child with care supports at home and 28 reported\u2009\u2265\u20096 missed days of work by caregivers in the past year for IMD care. All participants reported fulfillment from caregiving tasks, although 82% reported mental struggles related to caregiving. Based on caregiver reports, children with IMDs had lower HRQoL relative to population normative data. We observed lower median scores for several HRQoL subscales among children with IMDs classified as progressive with multi-system involvement relative to other IMDs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We identified important impacts of IMD care for family caregivers. Relief from high levels of caregiving responsibility and time should be a priority for the development of healthcare policies and interventions, to improve health and well-being for both children and their caregivers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04434-y","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T17:04:40Z","timestamp":1781111080000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1683-2912","authenticated-orcid":false,"given":"Andrea J.","family":"Chow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Pallone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2885-7028","authenticated-orcid":false,"given":"Maureen","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Brehaut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia K. 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Written informed consent was obtained from all participants.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"MIF has received: grant\/research support from Sanofi Genzyme, Shire, Passage Bio, Ultragenyx pharmaceuticals, Denali Therapeutics Inc, Aeglea Biotherapeutics Inc, PTC Therapeutics, Moderna, Vtesse Inc. (Mallinckrodt Pharmaceuticals), conducted research (no funding) with the International Niemann Pick Disease Registry and the MLD Initiative; speaker honoraria from Horizon Therapeutics and the Canadian Fabry Disease Association; consulting fees from Shire, Sanofi Genzyme, Cyclo Therapeutics, and Simon Kutcher; and participated an advisory board of Horizon Therapeutics, Sanofi Genzyme, Shire, Ultragenyx Pharmaceuticals, Alexion Pharmaceuticals, and Recordati Rare Disease. JJ Mitchell has received: educational grants from Biomarin; consulting fees from Ultragenyx, PTC, Biomarin, Takeda, Sanofi, Beam Therapeutics, Moderna; and travel support from Biomarin. SGN received payment from the Health and Medical Research Fund of Hong Kong for peer review of a research study on the Views towards dried blood spot cards storage and its usage for extended genetic testing among parents and healthcare providers in Hong Kong. AP has participated in Dietitian advisory boards for: Ultragenyx (June 2024, April 2022 and March 2021) and Horizon (April 2022 and April 2021). MP is on the advisory board for Ultragenyx, PTC Therapeutics and BioMarin and is the clinical trial site-PI for PTC Therapeutics. KW is the co-founder of CANImmunize Inc and has previously served as a member of the independent safety advisory board for Moderna. The remaining authors have nothing to declare.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"286"}}