{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T11:43:08Z","timestamp":1784115788792,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T00:00:00Z","timestamp":1628812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012155","name":"Channel 7 Telethon Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001063","name":"Raine Medical Research Foundation","doi-asserted-by":"publisher","award":["Clinician Research Fellowship"],"award-info":[{"award-number":["Clinician Research Fellowship"]}],"id":[{"id":"10.13039\/501100001063","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Familial hypercholesterolaemia (FH) is a common and treatable cause of premature coronary artery disease. However, the majority of individuals with FH remain undiagnosed. This study investigated the feasibility, acceptability and cost\u2010effectiveness of screening children aged 1\u20132\u2009years for FH at the time of an immunisation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Children 1\u20132\u2009years of age were offered screening for FH with a point\u2010of\u2010care total cholesterol (TC) test by capillary\u2010collected blood sample at the time of an immunisation. An additional blood sample was taken to allow genetic testing if the TC level was above the 95th percentile (<jats:styled-content>&gt;<\/jats:styled-content>5.3\u2009mmol\/L). Parents of children diagnosed with FH were offered testing. Following detection of the affected parent, cascade testing of their first\u2010degree blood relatives was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We screened 448 children with 32 (7.1%) having a TC\u00a0\u2265\u20095.3\u2009mmol\/L. The FH diagnosis was confirmed in three children (1:150 screened). Reverse cascade testing of other family members identified a further five individuals with FH; hence, eight new cases of FH were diagnosed from screening 448 children (1:56 screened). Ninety\u2010six percent of parents would screen future children for FH. The approach was cost\u2010effective, at $3979 per quality\u2010adjusted life year gained.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In Western Australia, universal screening of children aged 1\u20132\u2009years for FH, undertaken at the time of an immunisation, was a feasible and effective approach to detect children, parents and other blood relatives with FH. The approach was acceptable to parents and is potentially a highly cost\u2010effective detection strategy for families at risk of FH.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.15700","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T14:49:08Z","timestamp":1628866148000},"page":"281-287","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Pilot study of universal screening of children and child\u2010parent cascade testing for familial hypercholesterolaemia in Australia"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1038-2837","authenticated-orcid":false,"given":"Andrew C","family":"Martin","sequence":"first","affiliation":[{"name":"Department of General Paediatrics Perth Children's Hospital  Perth Western Australia Australia"},{"name":"School of Medicine University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J","family":"Hooper","sequence":"additional","affiliation":[{"name":"School of Medicine University of Western Australia  Perth Western Australia Australia"},{"name":"Department of Clinical Biochemistry PathWest Laboratory Medicine  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Norman","sequence":"additional","affiliation":[{"name":"School of Public Health Curtin University  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan T","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry PathWest Laboratory Medicine  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"Burnett","sequence":"additional","affiliation":[{"name":"School of Medicine University of Western Australia  Perth Western Australia Australia"},{"name":"Department of Clinical Biochemistry PathWest Laboratory Medicine  Perth Western Australia Australia"},{"name":"Lipid Disorders Clinic, Cardiometabolic Service Royal Perth Hospital  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damon A","family":"Bell","sequence":"additional","affiliation":[{"name":"School of Medicine University of Western Australia  Perth Western Australia Australia"},{"name":"Department of Clinical Biochemistry PathWest Laboratory Medicine  Perth Western Australia Australia"},{"name":"Lipid Disorders Clinic, Cardiometabolic Service Royal Perth Hospital  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Brett","sequence":"additional","affiliation":[{"name":"General Practice and Primary Health Care Research, School of Medicine University of Notre Dame  Fremantle Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquie","family":"Garton\u2010Smith","sequence":"additional","affiliation":[{"name":"Clinical Excellence Division, Department of Health Health Networks  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Pang","sequence":"additional","affiliation":[{"name":"School of Medicine University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen J","family":"Nowak","sequence":"additional","affiliation":[{"name":"Public and Aboriginal Health Division, Department of Health Office of Population Health Genomics  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald F","family":"Watts","sequence":"additional","affiliation":[{"name":"School of Medicine University of Western Australia  Perth Western Australia Australia"},{"name":"Lipid 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