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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 Celine Guien 3 Luisa Villa 1 Catherine Eng 3 Sitraka Rabarimeriarijaona 4 Rafaëlle Bernard 4, 3 Pascal Cintas 5 Guilhem Solé 6 Vincent Tiffreau 7 Andoni Echaniz-Laguna 8 Armelle Magot 9 Raul Juntas Morales 10 François Constant Boyer 11 Aleksandra Nadaj-Pakleza 12 Agnès Jacquin-Piques 13 Christophe Béroud 3, 4 Sabrina Sacconi 1 Blandine Acket Jean-Christophe Antoine Shahram Attarian 3, 14 Guillaume Bassez Anne-Laure Bédat-Millet Anthony Béhin Rémi Bellance Michela Bisciglia Véronique Bombart Rosalie Boitet Pascale Bonnet Françoise Bouhour Célia Boutte Brigitte Chabrol 3, 4 Jean-Baptiste Chanson Françoise Chapon Ariane Choumert Pauline Coignard Jean-yves Cornu Benoît Daubail Elisa de La Cruz Léa Declerck Capucine Delattre Florence Demurger Véronique Dulieu Aurélie Duruflé Fanny Duval Florence Esselin Teresinha Evangelista Bruno Eymard Anthony Faivre Léonard Féasson Xavier Ferrer François Feuvrier Olivier Flabeau Mélanie Fradin Alain Furby Jérémy Garcia Hélène Gervais-Bernard Teresa Gidaro Karima Ghorab Marc Jeanpierre Hubert Journel Arnaud Lacour Pascal Laforêt Emmeline Lagrange Valérie Layet Gérard Leclaire Jean-Luc Le Guiet Gwenaël Le Guyader François Leroy France Leturcq Nicolas Lévy 3, 4 Sarah Léonard-Louis Laurent Magy Edoardo Malfatti Marion Masingue Gilles Mazaltarine Dominique Ménard Maud Michaud Marie-Christine Minot-Myhié Marie-Doriane Morard Juliette Nectoux Karine Nguyen 3, 4 Julie Nicomette Jean-Baptiste Noury Sybille Pellieux Laetitia Percebois-Macadré yann Péréon Solange Perrin-Callot Philippe Petiot Sylviane Peudenier Bénédicte Pontier Florence Portet Jean Pouget Marguerite Preudhomme Hélène Rauscent Dimitri Renard Audrey Riou Francois Rivier 15, 16 Emmanuelle Salort-Campana 3, 14 Stéphane Schaeffer Jean-Philippe Simon Aurélie Siri Marco Spinazzi Tanya Stokovic Juliette Svahn François Tabaraud Frédéric Taithe Céline Tard Christel Thauvin Philippe Thoumie Claire-Lise Tournier-Gervason Christine Tranchant Jon Andoni Urtizberea Christophe Vial Michel Vidaud Fabien Zagnoli 
Abstract : Background 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 : Thursday, March 3, 2022 - 4:42:46 PM
Last modification on : Tuesday, May 31, 2022 - 11:30:38 AM

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Benoît Sanson, Caroline Stalens, Celine 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, BioMed Central, 2022, 17 (1), pp.96. ⟨10.1186/s13023-021-01793-6⟩. ⟨hal-03596523⟩

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