Literature DB >> 23834358

Management of children with spinal muscular atrophy type 1 in Australia.

Benjamin Tassie1, David Isaacs, Henry Kilham, Ian Kerridge.   

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.
© 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Entities:  

Keywords:  ethics; general paediatrics; intensive care; neurology; respiratory

Mesh:

Year:  2013        PMID: 23834358     DOI: 10.1111/jpc.12291

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN: 1034-4810            Impact factor:   1.954


  6 in total

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Authors:  Jeffrey D Edwards; Marilyn C Morris; Judith E Nelson; Howard B Panitch; Rachel L Miller
Journal:  Ann Am Thorac Soc       Date:  2017-10

2.  Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials?

Authors:  Richard S Finkel; Kathie M Bishop; Robert M Nelson
Journal:  J Child Neurol       Date:  2016-10-22       Impact factor: 1.987

3.  Decisions for Long-Term Ventilation for Children. Perspectives of Family Members.

Authors:  Jeffrey D Edwards; Howard B Panitch; Judith E Nelson; Rachel L Miller; Marilyn C Morris
Journal:  Ann Am Thorac Soc       Date:  2020-01

4.  Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States.

Authors:  Cathy Lally; Cynthia Jones; Wildon Farwell; Sandra P Reyna; Suzanne F Cook; W Dana Flanders
Journal:  Orphanet J Rare Dis       Date:  2017-11-28       Impact factor: 4.123

5.  Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.

Authors:  Cynthia C Jones; Suzanne F Cook; Jill Jarecki; Lisa Belter; Sandra P Reyna; John Staropoli; Wildon Farwell; Kenneth Hobby
Journal:  J Neuromuscul Dis       Date:  2020

6.  Respiratory support attitudes among pediatric intensive care staff for spinal muscular atrophy patients in Saudi Arabia.

Authors:  Mohamad-Hani A Temsah; Fahad M Al-Sohime; Fahad A Bashiri; Ayman A Al-Eyadhy; Gamal M Hasan; Ali A Alhaboob
Journal:  Neurosciences (Riyadh)       Date:  2018-01       Impact factor: 0.906

  6 in total

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