Neuropediatrics 2019; 50(06): 359-366
DOI: 10.1055/s-0039-1694986
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Decision-Making Regarding Ventilator Support in Children with SMA Type 1—A Cross-Sectional Survey among Physicians

Astrid Pechmann
1   Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Thorsten Langer
1   Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Janbernd Kirschner
1   Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
2   Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany
› Author Affiliations
Further Information

Publication History

17 April 2019

04 July 2019

Publication Date:
13 August 2019 (online)

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and severe proximal muscle weakness. In the absence of curative treatment, it has been controversial whether critically ill infants with SMA type 1 should receive ventilator support. The aim of this study was to investigate the process of decision-making regarding ventilator support in children with SMA type 1 from the perspectives of physicians. A web-based survey with 17 questions and 2 case vignettes was conducted in 671 physicians in Germany and Switzerland from 12/2016 to 03/2017. The survey focused on factors influencing the decision about ventilator support and the content in informed consent discussions. Additionally, physicians were asked about their general attitude towards mechanical ventilation in children with SMA type 1 and their hypothetical clinical management in emergency settings using case vignettes. Hundred and sixty-five physicians participated in the survey (50.3% child neurologists, 18.8% specialists for ventilator support, 6.1% pediatric palliative care physicians, and 6.1% with more than one of these specializations). Of all physicians, 44.2% confirmed to have experience with SMA type 1 patients using ventilator support. In summary, our results show that physicians' attitudes and experiences about mechanical ventilation in children with SMA type 1 vary considerably and are likely to influence the outcome in informed consent discussions and the hypothetical management in emergency settings.

Supplementary Material

 
  • References

  • 1 Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15 (06) 409-413
  • 2 Verhaart IEC, Robertson A, Wilson IJ. , et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis 2017; 12 (01) 124
  • 3 De Sanctis R, Coratti G, Pasternak A. , et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord 2016; 26 (11) 754-759
  • 4 Oskoui M, Levy G, Garland CJ. , et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007; 69 (20) 1931-1936
  • 5 Finkel RS, McDermott MP, Kaufmann P. , et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 2014; 83 (09) 810-817
  • 6 Hoy SM. Nusinersen: first global approval. Drugs 2017; 77 (04) 473-479
  • 7 Mendell JR, Al-Zaidy S, Shell R. , et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med 2017; 377 (18) 1713-1722
  • 8 Parente V, Corti S. Advances in spinal muscular atrophy therapeutics. Ther Adv Neurol Disorder 2018; 11: 1756285618754501
  • 9 Mercuri E, Finkel RS, Muntoni F. , et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018; 28 (02) 103-115
  • 10 Finkel RS, Mercuri E, Meyer OH. , et al; SMA Care group. Diagnosis and management of spinal muscular atrophy: part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018; 28 (03) 197-207
  • 11 Fiks AG, Jimenez ME. The promise of shared decision-making in paediatrics. Acta Paediatr 2010; 99 (10) 1464-1466
  • 12 Wyatt KD, List B, Brinkman WB. , et al. Shared decision making in pediatrics: a systematic review and meta-analysis. Acad Pediatr 2015; 15 (06) 573-583
  • 13 Rothman RL, Yin HS, Mulvaney S, Co JPT, Homer C, Lannon C. Health literacy and quality: focus on chronic illness care and patient safety. Pediatrics 2009; 124 (Suppl. 03) S315-S326
  • 14 Agra Tuñas MC, Sánchez Santos L, Busto Cuiñas M, Rodríguez Núñez A. Atrofia muscular espinal y fracaso respiratorio. ¿Cómo actúan los pediatras de atención primaria en un escenario simulado?. An Pediatr (Barc) 2015; 83 (05) 336-340
  • 15 Lövgren M, Sejersen T, Kreicbergs U. Information and treatment decisions in severe spinal muscular atrophy: a parental follow-up. Eur J Paediatr Neurol 2016; 20 (06) 830-838
  • 16 Oskoui M, Ng P, Liben S, Zielinski D. Physician driven variation in the care of children with spinal muscular atrophy type 1. Pediatr Pulmonol 2017; 52 (05) 662-668
  • 17 Hardart MKM, Burns JP, Truog RD. Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes. Pediatrics 2002; 110 (2 Pt 1): e24
  • 18 Benson RC, Hardy KA, Gildengorin G, Hsia D. International survey of physician recommendation for tracheostomy for Spinal Muscular Atrophy Type I. Pediatr Pulmonol 2012; 47 (06) 606-611
  • 19 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 (01) 45-50 , quiz 50, discussion 55–56
  • 20 Gregoretti C, Ottonello G, Chiarini Testa MB. , et al. Survival of patients with spinal muscular atrophy type 1. Pediatrics 2013; 131 (05) e1509-e1514
  • 21 Ottonello G, Mastella C, Franceschi A. , et al. Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support. Am J Phys Med Rehabil 2011; 90 (11) 895-900
  • 22 Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child 2011; 96 (05) 426-432
  • 23 Ryan MM. The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against. Paediatr Respir Rev 2008; 9 (01) 51-54 , discussion 55–56
  • 24 Gray K, Isaacs D, Kilham HA, Tobin B. Spinal muscular atrophy type I: do the benefits of ventilation compensate for its burdens?. J Paediatr Child Health 2013; 49 (10) 807-812
  • 25 Wilkinson DJ, Gillam LH. Should long-term ventilation be offered in severe spinal muscular atrophy. J Paediatr Child Health 2013; 49 (10) 813-814
  • 26 Rul B, Carnevale F, Estournet B, Rudler M, Hervé C. Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context. Nurs Ethics 2012; 19 (03) 408-418