Cynthia is a senior career-award researcher specializing in adult genetic neuromuscular disorders. She holds a professorial appointment at the School of Rehabilitation at the University of Sherbrooke. She is the scientific director of the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) and is a researcher at the Centre de recherche Charles-Le Moyne-Saguenay-Lac-St-Jean sur les innovations en santé.
Cynthia trained as an occupational therapist at McGill University. She has a doctoral degree in experimental medicine from Laval University and pursued a postdoctoral fellowship in program evaluation at Montreal University. Her work aims at improving clinical care and speeding up trial readiness in the most prevalent neuromuscular diseases in Canada. Her main interest is to document the natural history of the disease through an interdisciplinary perspective to be able to document the progression of the disease and to identify significant predictor and explanatory factors related to participation in daily activities and social roles of patients such as work and autonomous living. Her other interest is to define the best outcome measures to assess potential therapeutic targets such as muscle strength, fatigue or cognitive functions. She also works on developing knowledge translation strategies related to rare diseases to ensure effective and just-in-time knowledge translation to the interdisciplinary team through different strategies including wiki, articles, clinical practice guidelines to improve clinical care for patients and their families.
She is involved in several international projects in relation to myotonic dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Within NMD4C, Cynthia is lead for knowledge translation.
Côté, C, Fortin, J, Brais, B, Youssof, S, Gagnon, C. Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population. Qual Life Res. 2021. PMID:34292466
Gagnon, C, Fortin, J, Lamontagne, ME, Plourde, A. The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases. J Neuromuscul Dis. 2021. PMID:34250944
Traschütz, A, Reich, S, Adarmes, AD, Anheim, M, Ashrafi, MR, Baets, J et al.. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol. 2021.12 677551 PMID:34248822
Roussel, MP, Fiset, MM, Gauthier, L, Lavoie, C, McNicoll, É, Pouliot, L et al.. Assessment of muscular strength and functional capacity in the juvenile and adult myotonic dystrophy type 1 population: a 3-year follow-up study. J Neurol. 2021. PMID:33907889
Laberge, L, Gallais, B, Auclair, J, Dauvilliers, Y, Côté, I, Mathieu, J et al.. Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1. Can J Neurol Sci. 2021. 1-4 PMID:33875033See more on PubMed