Factors that facilitate or hinder the use of the facial rehabilitation webtool MEPP 2.0: a comparative study in the Quebecer health system.

Background: Recently, our research team developed an open source and free website called the MEPP website (for the Mirror Effect Plus Protocol) to efficiently provide mirror therapy for patients with facial palsy. Previous studies demonstrated that the first version of the MEPP website improved user experience and likely optimized patients' performance during facial therapy. Nevertheless, compliance was found to be low despite a generally positive opinion of the website, and in light of our earlier findings, MEPP 2.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Background: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA) expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, and evidence-based treatability remain to be established. We report on the frequency of FGF14 (GAA) and (GAA) expansions in a large cohort of patients with idiopathic downbeat nystagmus (DBN) and their response to 4-aminopyridine.

Methods: Retrospective cohort study of 170 patients with idiopathic DBN, comprising in-depth phenotyping and assessment of 4-aminopyridine treatment response, including re-analysis of placebo-controlled video-oculography treatment response data from a previous randomised double-blind 4-aminopyridine trial.

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

Objectives: The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients ("idiopathic"), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopathic cases. Here, we hypothesized that biallelic RFC1 expansions may also represent a recurrent cause of DBN syndrome.

Methods: We genotyped the RFC1 repeat and performed in-depth phenotyping in 203 patients with DBN, including 65 patients with idiopathic DBN, 102 patients carrying an FGF14 GAA expansion, and 36 patients with presumed secondary DBN.

Current rehabilitation practice for the evaluation and treatment of children with arthrogryposis: an international survey.

Purpose: To describe the current practices in rehabilitation for the evaluation and treatment of children with arthrogryposis multiplex congenita (AMC).

Materials And Methods: Rehabilitation practitioners worldwide with at least 2 years of experience with AMC were invited to complete an electronic survey on the evaluations and treatments used with children with AMC within five areas: muscle and joint function, self-care, mobility, pain, participation and psychosocial wellbeing.

Results: Sixty five participants from nine countries completed the survey.

Expert guidance for the rehabilitation of children with arthrogryposis: protocol using an integrated knowledge translation approach.

Background: Arthrogryposis multiplex congenita (AMC) is a group of rare congenital disorders characterized by multiple joint contractures present at birth. Contractures can affect different body areas and impact activities of daily living, mobility and participation. Although early rehabilitation is crucial to promote autonomy and participation in children with AMC, empirical evidence to inform best practice is scarce and clinical expertise hard to develop due to the rarity of AMC.

Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease.

Background: Myotonic dystrophy type 1 (DM1) is characterized by progressive and predominantly distal muscle atrophy and myotonia. Gait and balance impairments, resulting in falls, are frequently reported in this population. However, the extent to which individuals with DM1 rely more on a specific sensory system for balance than asymptomatic individuals (AI) is unknown.

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method.

Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA.

Core patient-reported outcome domains for routine clinical care in chronic pain management: patients' and healthcare professionals' perspective.

Purpose: To identify a core patient-reported outcome (PRO) domain set to be used in routine clinical care in settings offering specialized and supra-specialized multidisciplinary care to individuals with chronic pain (CP).

Methods: Two online cross-sectional surveys were administered: one with healthcare professionals (HCPs) and one with individuals with CP. Both surveys included domains of health-related quality of life (HRQoL) from the Patient-Reported Outcomes Measurement Information System (PROMIS) framework.

Social circus program (Cirque du Soleil) promoting social participation of young people living with physical disabilities in transition to adulthood: a qualitative pilot study.

Purpose: To explore the perceived impact of a social circus program on the participation level of young adults' living with physical disabilities from their own and their parents' perspective.

Method: Exploratory phenomenological qualitative design. A social circus program was offered for nine months.

The role of clothing in participation of persons with a physical disability: a scoping review protocol.

Introduction: Clothing is an important aspect of nearly all human societies from performing social and cultural functions to indicating social status, a form of protection and a way for self-expression. It can help or hinder the ability to fulfil everyday activities and social roles and with the rising industry of wearable technologies, smart textiles are adding health-monitoring functions to clothing. The influence that clothing can have on the life of someone with a physical disability is significant, and further research is needed to understand it better.

Towards a taxonomy of sexuality following traumatic brain injury: A pilot exploratory study using cluster analysis.

Introduction: Clinicians need to understand the heterogeneity of sexual problems following traumatic brain injury (TBI) for their adequate identification and treatment.

Objective: To systematically identify groups of individuals with TBI showing similar patterns of sexual functioning.

Methods: Forty-two individuals with TBI with a mean age of 37.

A Telerehabilitation Approach to Enhance Quality of Life Through Exercise Among Adults With Paraplegia: Study Protocol.

Background: Despite compelling evidence linking physical activity and quality of life among adults with spinal cord injury (SCI), exercise participation rates are extremely low in this population. Unfortunately, a lack of behavioral exercise interventions, in particular theory-based randomized controlled trials (RCT), exists within the SCI literature. A pilot RCT is needed to first examine the feasibility to conduct such interventions and determine the appropriate effect size to inform future full-scale interventions.

Participant and service provider perceptions of an outpatient rehabilitation program for people with acquired brain injury.

Background: A holistic, intensive and interdisciplinary rehabilitation program for people with acquired brain injury (ABI) was developed at the Pitié-Salpêtrière Hospital, France (5 days/week for 7 weeks). This program, recently demonstrated effective, aimed to optimize the ability of people with ABI to perform activities and improve their participation by using individual and group interventions involving ecologically valid activities inside (e.g.

Instruments to evaluate mobility capacity of older adults during hospitalization: A systematic review.

Independent mobility is a key factor in predicting morbidity and determining hospital discharge readiness for older patients. The main objective was identify and appraise relevant instruments for the measurement of mobility of hospitalized geriatric patients. A systematic review was performed in two consecutive steps.

Creating an inclusive mall environment with the PRECEDE-PROCEED model: a living lab case study.

Purpose: Although public environments provide opportunities for participation and social inclusion, they are not always inclusive spaces and may not accommodate the wide diversity of people. The Rehabilitation Living Lab in the Mall is a unique, interdisciplinary, and multi-sectoral research project with an aim to transform a shopping complex in Montreal, Canada, into an inclusive environment optimizing the participation and social inclusion of all people.

Methods: The PRECEDE-PROCEDE Model (PPM), a community-oriented and participatory planning model, was applied as a framework.

How do assessments of activities of daily living address executive functions: A scoping review.

Unlabelled: Executive functions (EF) allow persons to adapt to situations arising in daily life and can be affected following acquired brain injury (ABI). Measuring the impact of EF impairments on the accomplishment of activities of daily living (ADL) requires specific assessment tools, but choosing the right tool may be difficult.

Purpose: To conduct a scoping review on how assessments of ADL address EF and EF impairments in persons with ABI.

Emotional recognition from dynamic facial, vocal and musical expressions following traumatic brain injury.

Objectives: To assess emotion recognition from dynamic facial, vocal and musical expressions in sub-groups of adults with traumatic brain injuries (TBI) of different severities and identify possible common underlying mechanisms across domains.

Methods: Forty-one adults participated in this study: 10 with moderate-severe TBI, nine with complicated mild TBI, 11 with uncomplicated mild TBI and 11 healthy controls, who were administered experimental (emotional recognition, valence-arousal) and control tasks (emotional and structural discrimination) for each domain.

Results: Recognition of fearful faces was significantly impaired in moderate-severe and in complicated mild TBI sub-groups, as compared to those with uncomplicated mild TBI and controls.

Exploring factors influencing occupational therapists' perception of patients' rehabilitation potential after acquired brain injury.

Background/aim: Clinical practice guidelines advocate for early involvement of rehabilitation professionals in screening acquired brain injury patients' rehabilitation needs and determining the required rehabilitation services. Little is yet known about the nature of occupational therapists' role in this context. This exploratory study sought to identify factors influencing occupational therapists' perception of acquired brain injury patients' rehabilitation potential for inpatient rehabilitation.

A French adaptation of the Overt Behaviour Scale (OBS) measuring challenging behaviours following acquired brain injury: The Échelle des comportements observables (ÉCO).

Purpose: To develop a French version of the Overt Behaviour Scale (OBS) and examine some of its psychometric properties.

Methods: The scale was adapted and validated according to standard guidelines for cross-cultural adaptation of questionnaires (Échelle des comportements observables; ÉCO). The reliability and construct validity of the ÉCO were studied among 29 inpatients and outpatients who sustained an acquired brain injury.

The Instrumental Activity of Daily Living Profile in Aging: A Feasibility Study.

Background: Dysfunctions in complex activities of daily living (ADLs) are a normal part of the aging process. However, differentiating functional decline associated with healthy aging from the subtle decline experienced by individuals with mild cognitive impairment and early dementia constitutes a challenge. Finding an appropriate tool that can capture these subtle but important functional changes represents a priority.