A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France.
| Title: | A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France. |
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| Authors: | Montagu G; Unknowns SAS, Social Science Research, Paris, France.; Boyer FC; Service de Médecine Physique et Réadaptation, CHU de Reims, Reims, France.; EA 3797, Département de Santé Publique, Université de Reims Champagne-Ardenne, Reims, France.; Gargiulo M; Institut de Myologie, Hôpital de la Pitié-Salpêtrière, APHP, Paris, France.; Laboratoire de Psychologie clinique, Psychopathologie et Psychanalyse (EA 4056) Université Paris Descartes - Sorbonne Paris Cité, Paris, France.; Pouplin S; Laboratoire d'analyse du mouvement, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; Unité Recherche UR 20201 ERPHAN, Université Versailles Saint Quentin, Versailles, France.; Barrière A; Consultations pluridisciplinaires des maladies neuromusculaires - Hôpital de la croix rousse, CHU Lyon - L'Escale, Hôpital Femme Mère Enfant, Lyon, France.; Berling E; Service de Neurologie, Centre de référence des maladies neuromusculaires Nord Est IDF, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; FHU PHENIX, Garches, France.; Bonnyaud C; Laboratoire d'analyse du mouvement, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; Unité Recherche UR 20201 ERPHAN, Université Versailles Saint Quentin, Versailles, France.; Cintas P; Département de Neurologie, Hôpital Pierre-Paul Riquet, CHU de Toulouse, Toulouse, France.; Hogrel JY; Institut de Myologie, Hôpital de la Pitié-Salpêtrière, APHP, Paris, France.; Le Goff L; Hôpital Mère-Enfant, médecine pédiatrique, CHU Nantes, Nantes, France.; Marchadier B; Roche SAS, Medical Affairs, Boulogne-Billancourt, France.; N'Dah Sekou G; Service de Neurologie, Centre de référence des maladies neuromusculaires Nord Est IDF, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; FHU PHENIX, Garches, France.; Orlikowski D; FHU PHENIX, Garches, France.; Service de Réanimation Médicale Adulte, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; INSERM CIC1429, Centre d'Investigation Clinique, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; UFR Simone Veil, Université Paris-Saclay, Montigny-le-Bretonneux, France.; Prigent H; FHU PHENIX, Garches, France.; UFR Simone Veil, Université Paris-Saclay, Montigny-le-Bretonneux, France.; Service de Physiologie et Explorations Fonctionnelles, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; Pruvot A; Roche SAS, Medical Affairs, Boulogne-Billancourt, France.; Ropars J; Service de neurologie pédiatrique, CHU de Brest, Brest, France.; LaTIM INSERM UMR 1101, CHU de Brest, Brest, France.; Salort-Campana E; Service des Maladies Neuromusculaires et de la SLA, Hôpital de la Timone, APHM, Marseille, France.; INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, Marseille, France.; Stojkovic T; Institut de Myologie, Hôpital de la Pitié-Salpêtrière, APHP, Paris, France.; Centre de référence des maladies neuromusculaires, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.; UMRS974, Sorbonne Université - INSERM, Paris, France.; Nicolas G; Service de Neurologie, Centre de référence des maladies neuromusculaires Nord Est IDF, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; FHU PHENIX, Garches, France.; Attarian S; Service des Maladies Neuromusculaires et de la SLA, Hôpital de la Timone, APHM, Marseille, France.; INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, Marseille, France.; Laforêt P; Service de Neurologie, Centre de référence des maladies neuromusculaires Nord Est IDF, Hôpital Raymond-Poincaré, APHP Paris, Garches, France.; FHU PHENIX, Garches, France.; U1179 INSERM, Université Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France. |
| Source: | Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Apr 24, pp. 22143602251413326. Date of Electronic Publication: 2026 Apr 24. |
| Publication Model: | Ahead of Print |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2024- : [Thousand Oaks, CA] : SAGE Publications; Original Publication: Amsterdam : IOS Press |
| Abstract: | Background: Despite advancements in spinal muscular atrophy (SMA) management, evaluating outcomes in adults remains difficult. Standard motor scales often show floor/ceiling effects and fail to capture patient-relevant constructs. This creates a disconnect between clinical measurements and the lived experience of adults with SMA, particularly in regulatory contexts requiring demonstrable benefit. This qualitative study explored the evaluation priorities, expectations, and preferences of adults with SMA and the corresponding assessment challenges faced by healthcare practitioners (HCPs).; Methods: Semi-structured interviews with 18 adults with SMA (types 1b-3) and 31 multidisciplinary HCPs from 14 specialized French centers were conducted. Data were analyzed using reflexive thematic analysis and triangulation.; Results: Adults with SMA found standard assessments burdensome, fatiguing, and lack relevance. Their primary goal was maintaining an acceptable life balance, a dynamic equilibrium between their disease state and an adapted environment. This balance hinged on preserving specific keystone abilities (e.g., joystick control, independent transfers), which are highly individualized and critical for social participation. Patients prioritized the assessment of these specific abilities. HCPs corroborated the limitations of standard tools (insensitivity, confounding factors) and logistical constraints. In response, HCPs have developed numerous "home-made," non-validated assessments and used personalized tools to capture meaningful changes, especially in severely affected patients.; Discussion: A discrepancy exists between current standardized SMA assessments and patients priorities. It highlights a need for outcome measures that align with patients' priorities, particularly "keystone abilities." HCPs' innovative approaches offer a promising direction for future assessment development, advocating for a shift towards individualized, holistic evaluation in SMA care. |
| Contributed Indexing: | Keywords: acceptable life balance; environmental adaptation; healthcare professional practices; keystone abilities; motor function assessment; patient-centered assessment; personalized healthcare; qualitative study; quality of life; spinal muscular atrophy |
| Entry Date(s): | Date Created: 20260424 Latest Revision: 20260424 |
| Update Code: | 20260424 |
| DOI: | 10.1177/22143602251413326 |
| PMID: | 42029633 |
| Database: | MEDLINE |
Journal Article