Management of children with spinal muscular atrophy type 1 in Australia

Abstract

Aims: To (1) estimate the prevalence of Spinal Muscular Atrophy Type 1 (SMA 1); (2) describe what practices characterise end-of-life care of patients with SMA 1; (3) 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: 35 children were included in the clinical audit, accounting for an estimated 61% of children diagnosed with SMA 1 from 2005-2010. 26% were ventilated invasively, only two of whom were intubated after the diagnosis was confirmed. No children were ventilated longterm (>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.

Image of the Month: Answer

“…One important factor omitted from your otherwise excellent editorial 1 and associated report 2 and review 3 of the ethics of long-term ventilation of infants with spinal muscular atrophy is that death at 1-2 years of age is not accompanied by the patient's comprehension of dying. Dying in infancy is likely to be much less distressing for the patient than when dying is accompanied by awareness later in life.…”

Will this be a life worth living

“…4,5 In a few countries, children with SMA type 1 are sometimes kept alive indefinitely using artificial ventilation. Our paper questions the ethical justification.…”

“…6 We submitted an updated report on the child to the JPCH, 4 intending to publish without parental permission. However, new evidence shows Australian children are hardly ever ventilated for SMA type 1, 5 and the reviewers and editor appropriately declined publication without permission, because the child was too readily identifiable. The senior author who is the main carer of the patient then asked the parents' permission, which they gave unhesitatingly.…”

Spinal muscular atrophy‐1 and gastrostomy

“…1 Although they have focused upon the negative influences of cross-border media advertising from Thailand, over which health practitioners have little influence, they have also confirmed that initiation of breastfeeding in the first hour after delivery, a factor known from other studies to be important for breastfeeding initiation and for child survival, is one of the significant influences upon exclusive breastfeeding in this population.…”