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Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy.

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Title: Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy.
Authors: Kariyawasam DS; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia. Electronic address: didu.kariyawasam@health.nsw.gov.au., Meagher CE; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia., Kay A; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia., Cairns A; Neurosciences Department, Queensland Children's Hospital, South Brisbane, QLD, Australia., Siu C; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia; Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia., Wedlake C, Lau C; Faculty of Health, Medicine and Behavioral Sciences, The University of Queensland, Brisbane, QLD, Australia; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia., Miller C; Southeast Regional Hospital, Bega, NSW, Australia., Clark D; Department of Neurology, Women's and Children's Hospital, Adelaide, SA, Australia., Webster D; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand., Mas E; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia; Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia., Yiu EM; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia; Neuroscience Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, The University of Melbourne, Melbourne, VIC, Australia., Tolich F, Moore F; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia., Crisp G; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia., O'Grady G; Starship Children's Health, Auckland City Hospital, Auckland, New Zealand., Sampaio H; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia., Pitt J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia., Cini J; Advocacy Beyond Borders, Melbourne, VIC, Australia., Bhattacharya K; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia; Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Randwick and Westmead, NSW, Australia., Greed L; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia., Burrows L; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia., Kava M; Departments of Neurology and Metabolic Medicine, Perth Children's Hospital, Perth, WA, Australia., De Hora M; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand., Greenslade M; Starship Children's Health, Auckland City Hospital, Auckland, New Zealand., Heather N; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand., Heller R; Starship Children's Health, Auckland City Hospital, Auckland, New Zealand., Allcock R; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia., Greaves R; Department of Pediatrics, The University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia., Divanisova S; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand., Carrivick S; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia., Wotton T; NSW Newborn Screening Program, The Children's Hospital at Westmead, Sydney, NSW, Australia., Ware T; Department of Pediatrics, Royal Hobart Hospital, Hobart, TAS, Australia., Wilgen U; Faculty of Health, Medicine and Behavioral Sciences, The University of Queensland, Brisbane, QLD, Australia., Wiley V; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia., Farrar MA; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May; Vol. 28 (5), pp. 102560. Date of Electronic Publication: 2026 May 07.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Kariyawasam+DS%22">Kariyawasam DS</searchLink>; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia. Electronic address: didu.kariyawasam@health.nsw.gov.au.<br /><searchLink fieldCode="AU" term="%22Meagher+CE%22">Meagher CE</searchLink>; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kay+A%22">Kay A</searchLink>; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Cairns+A%22">Cairns A</searchLink>; Neurosciences Department, Queensland Children's Hospital, South Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Siu+C%22">Siu C</searchLink>; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia; Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Wedlake+C%22">Wedlake C</searchLink><br /><searchLink fieldCode="AU" term="%22Lau+C%22">Lau C</searchLink>; Faculty of Health, Medicine and Behavioral Sciences, The University of Queensland, Brisbane, QLD, Australia; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Miller+C%22">Miller C</searchLink>; Southeast Regional Hospital, Bega, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Clark+D%22">Clark D</searchLink>; Department of Neurology, Women's and Children's Hospital, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Webster+D%22">Webster D</searchLink>; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Mas+E%22">Mas E</searchLink>; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia; Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Yiu+EM%22">Yiu EM</searchLink>; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia; Neuroscience Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, The University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Tolich+F%22">Tolich F</searchLink><br /><searchLink fieldCode="AU" term="%22Moore+F%22">Moore F</searchLink>; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Crisp+G%22">Crisp G</searchLink>; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22O'Grady+G%22">O'Grady G</searchLink>; Starship Children's Health, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Sampaio+H%22">Sampaio H</searchLink>; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Pitt+J%22">Pitt J</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Cini+J%22">Cini J</searchLink>; Advocacy Beyond Borders, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Bhattacharya+K%22">Bhattacharya K</searchLink>; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia; Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Randwick and Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Greed+L%22">Greed L</searchLink>; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Burrows+L%22">Burrows L</searchLink>; South Australia Neonatal Screening Center, Department of Biochemical Genetics, Genetics and Molecular Pathology Directorate, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Kava+M%22">Kava M</searchLink>; Departments of Neurology and Metabolic Medicine, Perth Children's Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22De+Hora+M%22">De Hora M</searchLink>; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Greenslade+M%22">Greenslade M</searchLink>; Starship Children's Health, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Heather+N%22">Heather N</searchLink>; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Heller+R%22">Heller R</searchLink>; Starship Children's Health, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Allcock+R%22">Allcock R</searchLink>; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Greaves+R%22">Greaves R</searchLink>; Department of Pediatrics, The University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Divanisova+S%22">Divanisova S</searchLink>; Newborn Screening, LabPlus, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Carrivick+S%22">Carrivick S</searchLink>; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Perth, WA, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Wotton+T%22">Wotton T</searchLink>; NSW Newborn Screening Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ware+T%22">Ware T</searchLink>; Department of Pediatrics, Royal Hobart Hospital, Hobart, TAS, Australia.<br /><searchLink fieldCode="AU" term="%22Wilgen+U%22">Wilgen U</searchLink>; Faculty of Health, Medicine and Behavioral Sciences, The University of Queensland, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Wiley+V%22">Wiley V</searchLink>; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Farrar+MA%22">Farrar MA</searchLink>; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 May; Vol. 28 (5), pp. 102560. <i>Date of Electronic Publication: </i>2026 May 07.
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