Cynthia Gagnon

Université de Sherbrooke | UdeS · Faculty of Medicine and Health Sciences

Background and objectives: With targeted treatment trials on the horizon, identification of sensitive and valid outcome measures becomes a priority for >100 spastic ataxias. While digital-motor measures, assessed using wearable sensors, are considered prime outcome candidates for spastic ataxias, genotype-specific validation studies are lacking. W...

The main objective was to document the differences between drinking times and oral perception between liquids in individuals with dysphagia. A second objective was to assess variations in consistency categorization across instruments. A third objective was to explore the relationship between drinking time and dysphagia severity. A sample of individ...

BACKGROUND Mobility impairment and participation restrictions are experienced by individuals with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and myotonic dystrophy type 1 (MD1), two disorders that are highly prevalent in the province of Quebec, Canada. People with ARSACS and MD1 experience a progressive decline in mobility,...

Background. Limited knowledge is available regarding the impact of oculopharyngeal muscular dystrophy (OPMD) impairments on participation in daily and social activities, which currently hinders occupational therapy practice in this population. Purpose. To describe social participation and explore influencing factors in individuals with OPMD. Method...

Background: Myotonic dystrophy type 1 (DM1) is a slowly progressive disease caused by abnormal CTG repetitions on the dystrophia myotonica protein kinase (DMPK) gene. Long mRNA from CTG repetitions stabilizes in nuclear foci and sequester muscleblind-like splicing regulator 1 (MBNL1). Cardinal signs of DM1 include muscle wasting and weakness. The i...

Background With treatment trials on the horizon, this study aimed to identify candidate digital‐motor gait outcomes for autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS), capturable by wearable sensors with multicenter validity, and ideally also ecological validity during free walking outside laboratory settings. Methods Cross‐sec...

Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant genetic disorder. Although DM1 is primarily characterized by progressive muscular weakness, it exhibits many multisystemic manifestations, such as cognitive deficits, cardiac conduction abnormalities, and cataracts, as well as endocrine and reproductive issues. Additionally, the gastroint...

Myotonic dystrophy type 1 (DM1) is a hereditary disease characterized by muscular impairments. Fundamental and clinical positive effects of strength training have been reported in men with DM1, but its impact on women remains unknown. We evaluated the effects of a 12-week supervised strength training on physical and neuropsychiatric health. Women w...

The aim of this study was to develop a model to predict individual subject disease trajectories including parameter uncertainty and accounting for missing data in rare neurological diseases, showcased by the ultra-rare disease Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). We modelled the change in SARA (Scale for Assessment and R...

Patient-reported outcome measures (PROMs) are valuable in comprehensively understanding patients’ health experiences and informing healthcare decisions in research and clinical care without clinicians’ input. Until now, no central resource containing information on all PROMS in neuromuscular diseases (NMD) is available, hindering the comparison and...

Background and Objectives: With targeted treatment trials on the horizon, identification of sensitive and valid outcome measures becomes a priority for the >100 spastic ataxias. Digital-motor measures, assessed by wearable sensors, are prime outcome candidates for SPG7 and other spastic ataxias. We here aimed to identify candidate digital-motor out...

Mobility limitations, including a decrease in walking speed, are major issues for people with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Improving our understanding of factors influencing walking speed in ARSACS may inform the development of future interventions for gait rehabilitation and contribute to better clinical prac...

Background. Knowledge about the needs of parents with neurological disorders who take care of young children is limited. Purpose. The overall aim of this qualitative study was to explore the perceived unmet parent needs, current supports, and potential solutions to optimize supports of parents with neurological disorders in early childhood in a Can...

Muscle stem cells, the engine of muscle repair, are affected in myotonic dystrophy type 1 (DM1); however, the underlying molecular mechanism and the impact on the disease severity are still elusive. Here, we show using patients’ samples that muscle stem cells/myoblasts exhibit signs of cellular senescence in vitro and in situ. Single cell RNAseq un...

Background Rest-activity rhythm disturbances have been reported in myotonic dystrophy type 1 (DM1) but no study has assessed its relationship with apathy and light exposure using actigraphy. Methods Thirty-three DM1 patients wore an actigraph for two consecutive weeks. The Lille Apathy Rating Scale was used to assess apathy. Actigraphy was used to...

Background: The Neuromuscular Disease Network for Canada (NMD4C) aims to improve the care of Canadians with neuromuscular diseases. It has identified a need to support clinicians in implementing clinical guidelines with the use of checklists for initial evaluation and clinical follow-ups. The objective of the study was to develop a pragmatic manage...

Objective: The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological and regulatory challenges. To facilitate trial planning, we characterize its responsiveness (including subitem-level relations to ataxia severity and patient-focused outcome...

BACKGROUND: Research has shown that some people with neuromuscular diseases may have a lower level of education due to lower socioeconomic status and possibly compromised health literacy. In view of these data, it appears important to document their decision-making needs to ensure better support when faced with the decision to participate or not in...

Autosomal recessive cerebellar ataxias (ARCAs) are inherited neurological disorders that can affect both the central and peripheral nervous systems. To assess the effects of interventions according to the perception of people affected, patient-reported outcome measures (PROMs) must be available. This paper presents the development process of the Pe...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clinical manifestations. However, few studies assessed their progression rate using a longitudinal design. This study aimed to document the natural history of ARSACS over a 4-year period in terms of upper and lower limb functions, b...

Myotonic dystrophy type 1 (DM1) is a multisystemic inherited neuromuscular disease leading to central nervous system symptoms, including cognitive impairments, among multiple other symptoms. However, information is presently lacking regarding the psychometric properties of neuropsychological tests and promising computerized cognitive tests, such as...

The objective was to characterize the progression of sleep complaints in 115 dystrophy type 1 (DM1) patients who filled out a sleep questionnaire twice at a 9-year interval. Daytime napping (22.1% vs. 34.5%, p < 0.05), early awakenings (11.4% vs 21.1%, p < 0.05), nonrestorative sleep (39.5% vs 51.8%, p < 0.05), stimulant use (7.0% vs 19.3%, p < 0.0...

Background and purpose Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion [r(CUG)exp] located in the 3' untranslated region of the DMPK gene. Symptoms include skeletal and cardiac muscle dysfunction and fibrosis. In DM1, there is a lack of established biomarkers in routine...

Objective: Adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) often present with reduced upper limb coordination affecting their independence in daily life. Previous studies in ARSACS identified reduced performance in clinical assessments requiring fine and gross dexterity as well as prehension. However, the kinematic a...

Purpose We present the development and the key elements of a clinical practice guideline (CPG) in physiotherapy aiming to address sexuality, more specifically impairments and limitations that can interfere with sexual activity in adults with a neuromuscular disorder (NMD). Method The CPG was based on the Rare Knowledge Mining Methodological Framew...

Introduction. Autosomal recessive cerebellar ataxias (ARCAs) are inherited neurological disorders that can affect both thecentral and peripheral nervous systems. To assess the effects of interventions according to the perception of people affected, patient-reported outcome measures (PROMs) must be available. Objective. This paper presents the deve...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by balance impairment and mobility limitations, which both increase the risk of falling. The objective of this study was to explore the effects of a rehabilitation program aimed at increasing trunk and lower limb motor control on balance and walking abilities, and a...

Myotonic dystrophy type 1 (DM1) is a neuromuscular disease that can affect the pelvic floor muscles but few studies have investigated pelvic floor disorders, including urinary incontinence. The main purpose of this study was to document the prevalence, characteristics, and impacts of urinary incontinence and other pelvic floor disorders in women wi...

The Scale for the Assessment and Rating of Ataxia (SARA) is a widely used scale for assessing the severity of ataxia in clinics, natural history studies, and treatment trials worldwide. However, no French translation with validated cross-cultural adaptation is available. This study aimed to translate and adapt the SARA into French. The translation...

Objective: The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological and regulatory challenges. To facilitate trial planning, we characterize its responsiveness (including subitem-level relations to ataxia severity and patient-focused outcomes...

Background: Myotonic dystrophy type 1 (DM1) is the most prevalent adult form of neuromuscular disorders, for which a decrease of participation with age is known. However, little is known about facilitators and barriers to participation, especially from the perspective of both patients and caregivers. Objective: This study explored and explained...

Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. Objectives The aim of this study is to provide a better understanding of...

Myotonic dystrophy type 1 (DM1) is a multisystemic progressive genetic disease that causes muscle weakness and wasting. Strength training has been shown to be safe and can induce maximal strength gains. However, the underlying molecular mechanisms of these maximal strength gains remain unclear. The aim of this study is to determine how a single bou...

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset cerebellar ataxia with often presence of peripheral sensorimotor neuropathy and lower limb spasticity. Recently, the presence of pain has been associated with ARSACS in a quarter of the population in relation to spasms and neuropathic pain. However, limited therape...

Introduction Physical therapists are part of the rehabilitation team following individuals with neuromuscular disorders (NMD). Due to their impairments, people with NMD can have difficulties engaging in sexual activities. One study reported that 70% of people living with chronic disorders present difficulties related to sexuality and only 18% can o...

Muscle weakness and atrophy are clinical hallmarks of myotonic dystrophy type 1 (DM1). Muscle stem cells, which contribute to skeletal muscle growth and repair, are also affected in this disease. However, the molecular mechanisms leading to this defective activity and the impact on the disease severity are still elusive. Here, we explored through a...

The Traumatic Grief Inventory Self-Report (TGI-SR), which aims to assess both Persistent Complex Bereavement Disorder and Prolonged Grief Disorder, has been validated in several languages. This study sought to validate the French-Canadian version. We conducted an online survey exploring the impact of the COVID-19 pandemic on grief. With data from 7...

Background. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a progressive disorder where upper and lower extremities motor performances may bring participation restriction. Purpose. To document participation in adults with ARSAC and explore associations with motor performances. Method. Twenty-eight participants took part in th...

Background. Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of cerebellum. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the second most prevalent in Europe. Objectives. The aim of this study is to provide a better understanding of ma...

L’équipe du programme de traumatologie du Centre de réadaptation en déficience physique (CRDP) Le Parcours a constaté que les professionnels du milieu scolaire sont peu informés sur le traumatisme craniocérébral (TCC). Ils interviennent auprès des jeunes au meilleur de leurs connaissances, mais parfois avec peu d’efficacité : stratégies inadéquates...

Objectives: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the second most frequent recessive ataxia and commonly features reduced upper limb coordination. Sensitive outcome measures of upper limb coordination are essential to track disease progression and the effect of interventions. However, available clinical assessments...

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy among adults. This cross-sectional study documents the level of independence in the instrumental activities of daily living (IADL) and explores the impact of executive functions and apathy on IADL accomplishment level among adults with the childhood phenotype of DM1. IADL accompl...

Introduction/aims: Myotonic dystrophy type 1 (DM1) is a neuromuscular disease affecting many systems and for which muscle weakness is one of the cardinal symptoms. People with DM1 also present with balance-related impairments and high fall risk. The aim of this study was to explore explanatory factors of dynamic balance impairment in the DM1 popul...

Myotonic dytrophy type 1 (DM1) is an incurable neuromuscular disease and muscle weakness is a prominent symptom. Research has shown that strength training can be an interesting solution to help with this symptom. Therefore an assistive technology aiming at supervising strength training at home for people with DM1 has been developed and tested in th...

Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease affecting both smooth and striated muscles. It has been suggested that this multisystemic disease also impairs the genitourinary and lower gastrointestinal systems, but information is scattered and no systematic review has been conducted. The objectives of this systematic review...

PurposePatient-reported outcomes (PRO) assessing dysphagia are an essential component of clinical trials to consider how patients feel and function in response to treatments. The selected PRO needs to be translated in several languages using a systematic process ensuring its validity and equivalence for use in multicenter clinical trials. The main...

Background This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Results Twenty-five participants were recruited with a mean age of 32.2 (± 10.4) years with 45.7% using a walking aid. There is a sign...

Introduction Myotonic dystrophy type 1 (DM1) is a progressive, multisystemic, and autosomal dominant disease. Muscle wasting and weakness have been associated with impaired functional capacity and restricted social participation in affected individuals. The disease’s presentation is very heterogenous and its progression is still under-documented....

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the second most frequent recessive ataxia and commonly features reduced upper limb coordination. Sensitive outcome measures of upper limb coordination are essential to track disease progression and the effect of interventions. However, available clinical assessments are insuffici...

Rare diseases bring on a heavy health, social and economic burden that impacts patients’ lives and puts pressure on the healthcare system. Furthermore, they are often associated with limited published studies to inform multidisciplinary clinical practice thus limiting evidence-based practice. Moreover, the development of knowledge translation produ...

Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for ARCAs, disease registries have become a precious source of real-world quantitative and qualitative dat...

Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type 1 (DM1) that can be amenable to treatment in the context of randomized controlled trials. No study has yet documented whether self-reported measures of daytime sleepiness and fatigue can detect change over time and the meaning of this change. The aim was to explore ind...

Purpose: To document the nutritional risk in adults with oculopharyngeal muscular dystrophy (OPMD) and its association with oropharyngeal dysphagia. Methods: In this cross-sectional study, 33 adults with molecular confirmation of OPMD between 50 and 75 years old were recruited from the registry of a university-affiliated neuromuscular clinic. Nutri...

Background The childhood phenotype of myotonic dystrophy type 1 (DM1) involves impaired cognitive functioning starting in infancy, which may compromise later on their ability to carry out instrumental activities of daily living (IADLs) necessary for living independently. The current study aims to document the ability to perform IADLs among adults w...

L’International Dysphagia Diet Standardisation Initiative (IDDSI) propose un cadre de référence assorti de méthodes d’évaluation pour la catégorisation et la mesure des aliments et breuvages pour les patients dysphagiques afin de faciliter la comparaison d’études scientifiques internationales et améliorer le traitement de la dysphagie des nouveau-n...

Background: This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Results: Twenty-five participants were recruited with a mean age of 32.2 (±10.4) years with 45.7 % using a walking aid. There is a sig...

Myotonic dystrophy type 1 (DM1) is a rare disease where the highest prevalence is found in the small geographical region of Saguenay-Lac-St-Jean in Quebec, Canada. This disease impacts the quality of life and the ability of the affected people to pursue their normal day to day activities. To attenuate the impact of DM1, one could suggest that physi...

Purpose. Patient-reported outcomes (PRO) assessing dysphagia are considered an essential component of clinical trials to consider how patients feel and function in response to treatments. The selected PRO needs to be translated in several languages using a systematic process ensuring its validity and equivalence for use in multicenter clinical tria...

The treatment of myotonic dystrophy type 1 (DM1) focuses on reducing symptom burden. However, since medication often fails to produce satisfying symptom relief, some patients seek alternatives, such as cannabis, to help reduce some of these symptoms. The aim of this study was to provide an accurate profile of cannabis use among DM1 patients. Phone...

Purpose Although approximately 45% of adults with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) are permanent wheelchair users, this sub population has been less studied. The purpose of this study was to document wheelchair mobility, motor performance, and participation in a cohort of adult wheelchair users with ARSACS. Method...

Aim: Myotonic dystrophy type 1 (DM1) is caused by an unstable trinucleotide (CTG) expansion at the DMPK gene locus. Cognitive dysfunctions are often observed in the condition. We investigated the association between DMPK blood DNA methylation (DNAm) and cognitive functions in DM1, considering expansion length and variant repeats (VRs). Method: Data...

Digital health metrics promise to advance the understanding of impaired body functions, for example in neurological disorders. However, their clinical integration is challenged by an insufficient validation of the many existing and often abstract metrics. Here, we propose a data-driven framework to select and validate a clinically relevant core set...

Background: Muscle weakness is a cardinal sign of myotonic dystrophy type 1, causing important functional mobility limitations and increasing the risk of falling. As a non-pharmacological, accessible and safe treatment for this population, strength training is an intervention of choice. Objective: To document the effects and acceptability of an...

Purpose For slowly progressive neuromuscular disease, prognostic approach and long-term monitoring of participation is a crucial part of rehabilitation services. To improve the prognostic approach, professionals must identify individuals at risk of having higher participation restriction. This study aimed to identify personal and environmental pred...