Original Article

Management of children with spinal muscular atrophy type 1 in Australia

Corresponding Author

Benjamin Tassie

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Correspondence: Dr Benjamin Daniel Tassie, Centre for Values, Ethics and the Law in Medicine Level 1, Medical Foundation Building, K25 The University of Sydney NSW 2006, Australia. Fax: +612 90363436; email: [email protected]Search for more papers by this author

David Isaacs,

David Isaacs

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Department of Infectious Diseases & Microbiology, Sydney Children's Hospitals Network, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

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Henry Kilham,

Henry Kilham

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Department of General Medicine, Sydney Children's Hospitals Network, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

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Ian Kerridge,

Ian Kerridge

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia

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Benjamin Tassie,

Corresponding Author

Benjamin Tassie

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

David Isaacs,

David Isaacs

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Department of Infectious Diseases & Microbiology, Sydney Children's Hospitals Network, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

Search for more papers by this author

Henry Kilham,

Henry Kilham

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Department of General Medicine, Sydney Children's Hospitals Network, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

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Ian Kerridge,

Ian Kerridge

Centre for Values, Ethics and the Law in Medicine, University of Sydney, Sydney, New South Wales, Australia

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia

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First published: 08 July 2013

https://doi.org/10.1111/jpc.12291

Citations: 43

Conflict of interest: None declared.

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Abstract

Aims

The study aims to: (i) estimate the prevalence of spinal muscular atrophy type 1 (SMA 1); (ii) describe what practices characterise end-of-life care of patients with SMA 1; and (iii) ascertain whether a consistent approach to the management of these patients exists in Australia.

Methods

An audit of the Australasian pathology laboratories offering the diagnostic SMN1 deletion test was conducted for patients diagnosed with SMA in Australia for 2010 and 2011. In addition, a retrospective clinical audit was conducted in eight major Australian paediatric hospitals of the end-of-life care provided to children with confirmed SMA 1 from 2005 to 2010.

Results

Thirty-five children were included in the clinical audit, accounting for an estimated 61% of children diagnosed with SMA 1 from 2005 to 2010. Twenty-six per cent were ventilated invasively, only two of whom were intubated after the diagnosis was confirmed. No children were ventilated long term (>90 days) 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-of-life care decisions was documented in one instance, without the involvement of a guardianship tribunal.

Conclusion

There appears to be a consistent approach in the management of children with SMA 1 in Australia, which can be characterised as ‘actively managed dying’. 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 SMA 1.

References

1 Lomen-Hoerth C, Messing RO, eds. Chapter 7: nervous system disorders. Pathophysiology of Disease: An Introduction to Clinical Medicine, 6th edn. New York: McGraw Hill, 2010. Available from: http://www.accesspharmacy.com/content.aspx?aID=5368376 [accessed 27 June 2013].
Google Scholar
2 Nicole S, Diaz CC, Frugier T, Melki J. Spinal muscular atrophy: recent advances and future prospects. Musc. Nerve. 2002; 26: 4–13.
10.1002/mus.10110
CAS PubMed Web of Science® Google Scholar
3 Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest 2004; 126: 831–837.
10.1378/chest.126.3.831
PubMed Web of Science® Google Scholar
4 Dubowitz V. Chaos in the classification of SMA: a possible resolution. Neuromuscul. Disord. 1995; 5: 3–5.
10.1016/0960-8966(94)00075-K
CAS PubMed Web of Science® Google Scholar
5 Bosboom WMJ, Vrancken AFJE, van den Berg LH, Wokke JHJ, Iannaccone ST. Drug treatment for spinal muscular atrophy type 1. Cochrane Database Syst. Rev. 2009; (1): CD006281.
Google Scholar
6 Iannaccone ST. Modern management of spinal muscular atrophy. J. Child Neurol. 2007; 22: 974–978.
10.1177/0883073807305670
PubMed Web of Science® Google Scholar
7 Wang CH, Finkel RS, Bertini ES et al. Consensus statement for standard of care in spinal muscular atrophy. J. Child Neurol. 2007; 22: 1027–1049.
10.1177/0883073807305788
PubMed Web of Science® Google Scholar
8 Bach JR. The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for. Paediatr. Respir. Rev. 2008; 9: 45–50.
10.1016/j.prrv.2007.11.003
PubMed Web of Science® Google Scholar
9 Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics 2004; 114: 584–53.
10.1542/peds.2004-0668
PubMed Web of Science® Google Scholar
10 Bach JR. There are other ways to manage spinal muscular atrophy type 1. Chest 2005; 127: 1463–1464.
10.1378/chest.127.4.1463
PubMed Web of Science® Google Scholar
11 Bach JR, Baird JS, Plosky D, Nevado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr. Pulmonol. 2002; 34: 16–22.
10.1002/ppul.10110
PubMed Web of Science® Google Scholar
12 Birnkrant DJ, Pope JF, Martin JE, Repucci AH, Eiben RM. Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding. Pediatr. Neurol. 1998; 18: 407–410.
10.1016/S0887-8994(97)00227-0
CAS PubMed Web of Science® Google Scholar
13 Geevasinga N, Ryan MM. Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia. J. Paediatr. Child Health 2007; 43: 790–794.
10.1111/j.1440-1754.2007.01197.x
CAS PubMed Web of Science® Google Scholar
14 3301.0 – births, Australia, 2011 [Internet]. 2012 [updated 2012 Oct 25; cited 2013 Mar 4]. Available from: http://www.abs.gov.au/ausstats/[email protected]/mf/3301.0lkjn
Google Scholar
15 Family facts and figures: births [Internet]. 2013 [updated 2013 Feb 28; cited 2013 Mar 4]. Available from: http://www.aifs.gov.au/institute/info/charts/births/index.html
Google Scholar
16 Daffurn K, Kerridge R, Hillman KM. Active management of the dying patient. Med. J. Aust. 1992; 157: 701–704.
10.5694/j.1326-5377.1992.tb137442.x
CAS PubMed Web of Science® Google Scholar
17 Kafetz K. What happens when elderly people die? J. R. Soc. Med. 2002; 95: 536–538.
10.1177/014107680209501103
PubMed Web of Science® Google Scholar
18 Bach JR, Niranjan V, Weaver B. Spinal muscular atrophy type 1: a non-invasive respiratory management approach. Chest 2000; 117: 1100–1115.
10.1378/chest.117.4.1100
CAS PubMed Web of Science® Google Scholar
19 Niranjan V, Bach JR. Noninvasive management of pediatric neuromuscular ventilatory failure. Crit. Care Med. 1998; 26: 2061–2065.
10.1097/00003246-199812000-00042
CAS PubMed Web of Science® Google Scholar
20 Sakakihara Y, Kubota M, Kim S, Oka A. Long-term ventilator support in patients with Werdnig–Hoffmann disease. Pediatr. Int. 2000; 42: 359–363.
10.1046/j.1442-200x.2000.01241.x
CAS PubMed Web of Science® Google Scholar
21 Ito Y, Kumada S, Uchiyama U et al. Thalamic lesion in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings. Brain Dev. 2004; 26: 53–56.
10.1016/S0387-7604(03)00075-5
PubMed Web of Science® Google Scholar
22 Rul B, Carnevale F, Estournet B, Rudler M, Herve C. Tracheotomy and children with spinal muscular atrophy thype 1: ethical considerations in the French context. Nurs. Ethics 2012; 19: 408–418.
10.1177/0969733011429014
PubMed Web of Science® Google Scholar
23 Roper H, Quinlivan R, on behalf of Workshop Participants. Implementation of ‘the consensus statement for the standard of care in spinal muscular atrophy’ when applied to infants with severe type 1 SMA in the UK. Arch. Dis. Child. 2010; 95: 845–849.
10.1136/adc.2009.166512
CAS PubMed Web of Science® Google Scholar

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Volume49, Issue10

October 2013

Pages 815-819

Management of children with spinal muscular atrophy type 1 in Australia

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Management of children with spinal muscular atrophy type 1 in Australia

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