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Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Benoît Sanson 1 Caroline Stalens 2 Céline Guien 3 Luisa Villa 1 Catherine Eng 2 Sitraka Rabarimeriarijaona 4, 5 Rafaëlle Bernard 4, 5 Pascal Cintas 6 Guilhem Solé 7 Vincent Tiffreau 8 Andoni Echaniz-Laguna 9, 10, 11 Armelle Magot 12 Raul Juntas Morales 13 François Constant Boyer 14 Aleksandra Nadaj-Pakleza 15, 16 Agnès Jacquin-Piques 17 Christophe Béroud 3, 4 Sabrina Sacconi 1, 18 Blandine Acket 19 Jean-Christophe Antoine 19 Shahram Attarian 19 Guillaume Bassez 19 Anne-Laure Bédat-Millet 19 Anthony Béhin 19 Rémi Bellance 19 Michela Bisciglia 19 Véronique Bombart 19 Rosalie Boitet 19 Pascale Bonnet 19 Françoise Bouhour 19 Célia Boutte 19 Brigitte Chabrol 19 Jean-Baptiste Chanson 19 Françoise Chapon 19 Ariane Choumert 19 Pauline Coignard 19 Jean-Yves Cornu 19 Benoît Daubail 19 Elisa de La Cruz 19 Léa Declerck 19 Capucine Delattre 19 Florence Demurger 19 Véronique Dulieu 19 Aurélie Duruflé 19 Fanny Duval 19 Florence Esselin 19 Teresinha Evangelista 19 Bruno Eymard 19 Anthony Faivre 19 Léonard Féasson 19 Xavier Ferrer 19 François Feuvrier 19 Olivier Flabeau 19 Mélanie Fradin 19 Alain Furby 19 Jérémy Garcia 19 Hélène Gervais-Bernard 19 Teresa Gidaro 19 Karima Ghorab 19 Marc Jeanpierre 19 Hubert Journel 19 Arnaud Lacour 19 Pascal Laforêt 19 Emmeline Lagrange 19 Valérie Layet 19 Gérard Leclaire 19 Jean-Luc Le Guiet 19 Gwenaël Le Guyader 19 François Leroy 19 France Leturcq 19 Nicolas Lévy 19 Sarah Léonard-Louis 19 Laurent Magy 19 Edoardo Malfatti 19 Marion Masingue 19 Gilles Mazaltarine 19 Dominique Ménard 19 Maud Michaud 19 Marie-Christine Minot-Myhié 19 Marie-Doriane Morard 19 Juliette Nectoux 19 Karine Nguyen 19 Julie Nicomette 19 Jean-Baptiste Noury 19 Sybille Pellieux 19 Laetitia Percebois-Macadré 19 Yann Péréon 19 Solange Perrin-Callot 19 Philippe Petiot 19 Sylviane Peudenier 19 Bénédicte Pontier 19 Florence Portet 19 Jean Pouget 19 Marguerite Preudhomme 19 Hélène Rauscent 19 Dimitri Renard 19 Audrey Riou 19 François Rivier 19 Emmanuelle Salort-Campana 19 Stéphane Schaeffer 19 Jean-Philippe Simon 19 Aurélie Siri 19 Marco Spinazzi 19 Tanya Stokovic 19 Juliette Svahn 19 François Tabaraud 19 Frédéric Taithe 19 Céline Tard 19 Christel Thauvin 19 Philippe Thoumie 19 Claire-Lise Tournier-Gervason 19 Christine Tranchant 19 Jon Andoni Urtizberea 19 Christophe Vial 19 Michel Vidaud 19 Fabien Zagnoli 19 
Abstract : Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.
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Submitted on : Monday, March 7, 2022 - 9:47:51 AM
Last modification on : Tuesday, November 29, 2022 - 2:06:15 PM


2022 Sanson et al., Convergenc...
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Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, et al.. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy. Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.96. ⟨10.1186/s13023-021-01793-6⟩. ⟨hal-03596523⟩



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