{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:31:36Z","timestamp":1790217096933,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,7,8]],"date-time":"2013-07-08T00:00:00Z","timestamp":1373241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>The study aims to: (i) estimate the prevalence of spinal muscular atrophy type 1 (<jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 1); (ii) describe what practices characterise end\u2010of\u2010life care of patients with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 1; and (iii) ascertain whether a consistent approach to the management of these patients exists in <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An audit of the Australasian pathology laboratories offering the diagnostic <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> deletion test was conducted for patients diagnosed with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralia for 2010 and 2011. In addition, a retrospective clinical audit was conducted in eight major Australian paediatric hospitals of the end\u2010of\u2010life care provided to children with confirmed <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 1 from 2005 to 2010.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010five children were included in the clinical audit, accounting for an estimated 61% of children diagnosed with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 1 from 2005 to 2010. Twenty\u2010six per\u2009cent were ventilated invasively, only two of whom were intubated after the diagnosis was confirmed. No children were ventilated long term (&gt;90\u2009days) or had a tracheostomy performed. Nasogastric tube feeding was a common measure to support adequate nutritional intake. Total parenteral nutrition, gastrostomy and fundoplication were not provided for any children. Conflict over end\u2010of\u2010life care decisions was documented in one instance, without the involvement of a guardianship tribunal.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>There appears to be a consistent approach in the management of children with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 1 in <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralia, which can be characterised as \u2018actively managed dying\u2019. This study could contribute to the development of Australian consensus guidelines for the management of these children. These results also highlight a number of ethical issues related to the management of children with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 1.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.12291","type":"journal-article","created":{"date-parts":[[2013,7,8]],"date-time":"2013-07-08T10:28:43Z","timestamp":1373279323000},"page":"815-819","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Management of children with spinal muscular atrophy type 1 in <scp>A<\/scp>ustralia"],"prefix":"10.1111","volume":"49","author":[{"given":"Benjamin","family":"Tassie","sequence":"first","affiliation":[{"name":"Centre for Values, Ethics and the Law in Medicine University of Sydney  Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Isaacs","sequence":"additional","affiliation":[{"name":"Centre for Values, Ethics and the Law in Medicine University of Sydney  Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney  Sydney New South Wales Australia"},{"name":"Department of Infectious Diseases &amp; Microbiology Sydney Children's Hospitals Network The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Kilham","sequence":"additional","affiliation":[{"name":"Centre for Values, Ethics and the Law in Medicine University of Sydney  Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney  Sydney New South Wales Australia"},{"name":"Department of General Medicine Sydney Children's Hospitals Network The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Kerridge","sequence":"additional","affiliation":[{"name":"Centre for Values, Ethics and the Law in Medicine University of Sydney  Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney  Sydney New South Wales Australia"},{"name":"Department of Haematology and Transfusion Medicine Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,8]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Pathophysiology of Disease: An Introduction to Clinical Medicine","author":"Lomen\u2010Hoerth C","year":"2010"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10110"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.126.3.831"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00075-K"},{"issue":"1","key":"e_1_2_7_6_1","article-title":"Drug treatment for spinal muscular atrophy type 1","author":"Bosboom WMJ","year":"2009","journal-title":"Cochrane Database Syst. 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