Paediatric palliative approach in the era of disease modifying therapies in spinal muscular atrophy — a comprehensive landscape of French specialist physicians’ perspectives
4 affiliations
- 1Equipe de Recherche ESPPéRA, Centre Léon Bérard (CLB), Lyon, France
- 2Centre Hospitalier Universitaire d’Angers, Angers, France
- 3Département de Sciences Humaines et Sociales, Centre Léon Bérard (CLB), Lyon, France
- 4Centre de Recherche en Cancérologie de Lyon (CRCL), UMR Inserm, Université Claude Bernard Lyon 1 (UCBL), Lyon, 1052 - CNRS 5286 France
Abstract
Background: The introduction of disease-modifying therapies (DMTs) has transformed the prognosis of children with spinal muscular atrophy (SMA), creating new uncertainties in defining paediatric palliative care (PPC). This study explores the perspectives of paediatric neurologists and paediatric physical medicine and rehabilitation (PM&R) specialists in France on the definition of a palliative care (PC) situation, the PC practices in SMA and the integration of PPC teams in this evolving context.
Methods: We conducted a qualitative study with 16 French paediatric neurologists and paediatric PM&R specialists. Semi-structured interviews were thematically analysed and supported by reflexive practices and triangulation.
Results: Five main categories emerged from the analysis, revealing the heterogeneous definition of a PC situation and of the widespread involvement of PPC teams in untreated children. In the case of the treated SMA type 1 children, the PPC teams were mainly not involved, although the clinical complexity and uncertainty were acknowledged, and many of these teams’ qualifications were recognised. This was hindered by several factors, including specialists’ self-perceived expertise, difficulties in distinguishing specific skills from those of other teams, and the challenge of introducing PC to parents. Facilitators included renaming PPC teams, ensuring availability outside office hours, and perceiving PPC professionals as colleagues.
Conclusions: This study highlights the widespread dimension of the PC dimension in SMA type 0 and 1 and the heterogeneous perceptions of PPC in light of the prognostic uncertainty introduced by DMTs among specialists caring for SMA. Exploring the introduction of a PPC team as a family-centered choice in treated SMA type 1 children could facilitate practitioners’ choice in referring to a PPC team.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04481-5.
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BibTeX
@article{guenee2026paediatric,
title = {{Paediatric palliative approach in the era of disease modifying therapies in spinal muscular atrophy — a comprehensive landscape of French specialist physicians’ perspectives}},
author = {Marie-Liesse Guenée and Claire Pilet and Hélène Martinez and Véronique Christophe and Matthias Schell},
journal = {Orphanet Journal of Rare Diseases},
year = {2026},
month = aug,
doi = {10.1186/s13023-026-04481-5},
url = {https://doi.org/10.1186/s13023-026-04481-5},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Paediatric palliative approach in the era of disease modifying therapies in spinal muscular atrophy — a comprehensive landscape of French specialist physicians’ perspectives
AU - Marie-Liesse Guenée
AU - Claire Pilet
AU - Hélène Martinez
AU - Véronique Christophe
AU - Matthias Schell
PY - 2026
DA - 2026/08/05
JO - Orphanet Journal of Rare Diseases
DO - 10.1186/s13023-026-04481-5
UR - https://doi.org/10.1186/s13023-026-04481-5
AB - Background: The introduction of disease-modifying therapies (DMTs) has transformed the prognosis of children with spinal muscular atrophy (SMA), creating new uncertainties in defining paediatric palliative care (PPC). This study explores the perspectives of paediatric neurologists and paediatric physical medicine and rehabilitation (PM&R) specialists in France on the definition of a palliative care (PC) situation, the PC practices in SMA and the integration of PPC teams in this evolving context. Methods: We conducted a qualitative study with 16 French paediatric neurologists and paediatric PM&R specialists. Semi-structured interviews were thematically analysed and supported by reflexive practices and triangulation. Results: Five main categories emerged from the analysis, revealing the heterogeneous definition of a PC situation and of the widespread involvement of PPC teams in untreated children. In the case of the treated SMA type 1 children, the PPC teams were mainly not involved, although the clinical complexity and uncertainty were acknowledged, and many of these teams’ qualifications were recognised. This was hindered by several factors, including specialists’ self-perceived expertise, difficulties in distinguishing specific skills from those of other teams, and the challenge of introducing PC to parents. Facilitators included renaming PPC teams, ensuring availability outside office hours, and perceiving PPC professionals as colleagues. Conclusions: This study highlights the widespread dimension of the PC dimension in SMA type 0 and 1 and the heterogeneous perceptions of PPC in light of the prognostic uncertainty introduced by DMTs among specialists caring for SMA. Exploring the introduction of a PPC team as a family-centered choice in treated SMA type 1 children could facilitate practitioners’ choice in referring to a PPC team. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04481-5.
SN - 1750-1172
ER -