Grant: Project Grant

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurological disorder presents worldwide, with the highest prevalence in the Saguenay - Lac-St-Jean region. It is difficult to conduct study on rare diseases given the small number of patients in each country. Only few scientific papers are available to help develop evidence-based rehabilitation interventions or give meaningful information on the natural course of the disease so the physician can better inform the patient and his/her family about the prognosis and offer timely interventions. Our research group is currently building a unique dataset on impairments present and their progression over time (2013 -) in ARSACS. However, the small number of patients has limited our capacity to predict and explain participation restrictions found in this population such as lost of employment and decreased ability to walk. The proposed research aims to assess all major impairments (cognitive impairments, physical limitations and participation restrictions) on a large cohort of ARSACS patients (n = 100) over a 3-year period (two measurement times) to characterize their progression over time, and to try to determine which aspect of the disease has the main impact on the social participation of the patients. The selection of tools to assess these impairments is based on our previous studies where the validity (does the tool assess what it is supposed to assess?) and reliability (is the measure stable over time?) have been determined in the ARSACS population, which strengthens the confidence to obtain relevant data at the end of the project. The final purpose is to give to healthcare professionals the fundamental information necessary to plan a better medical follow-up for the patients. Also, all data to be acquired in this study will provide the scientific foundation to build robust clinical trial protocols in a near future.