Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

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, balance, walking capacity, performance in daily living activities, and disease severity. Forty participants were assessed on three occasions over 4 years. Participant performance was reported in raw data as well as in percentage from reference values to consider the normal aging process. Severe balance and walking capacity impairments were found, with a significant performance decrease over the 4 years. Balance reached a floor score of around 6 points on the Berg Balance Scale for participants aged >40 years, while other participants lost about 1.5 points per year. The mean loss in walking speed was 0.044 m/s per year and the mean decrease in the distance walked in 6 min was 20.8 m per year for the whole cohort. Pinch strength, balance, walking speed, and walking distance decreased over time even when reported in percentage from reference values. Major impairments and rapid progression rates were documented in the present study for upper limb coordination, pinch strength, balance, and walking capacity in the ARSACS population. A progression rate beyond the normal aging process was observed. These results provide fundamental insights regarding the disease prognosis that will help to better inform patients, develop specific rehabilitation programs, and improve trial readiness.

Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.

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 practices. The objective of the study was to identify the factors influencing the self-selected walking speed in adults with ARSACS. The dependent variable of this cross-sectional study was the self-selected speed and the factors (independent variables) were age, sex, balance, balance confidence, knee flexion and extension cocontraction indexes, lower limb coordination, passive range of motion of ankle dorsiflexion, knee and hip extension, and global spasticity. Multiple regression models were used to assess the relationships between walking speed and each factor individually. Six factors were significantly associated with walking speed and thus included in regression models. The models explained between 42.4 and 66.5% of the total variance of the self-selected walking speed. The factors that most influence self-selected walking speed are balance and lower limb coordination. In order of importance, the other factors that also significantly influence self-selected walking speed are ankle dorsiflexion range of motion, lower limb spasticity, knee extension range of motion, and confidence in balance. Balance and lower limb coordination should be targeted in rehabilitation interventions to maintain walking ability and functional independence as long as possible. The six factors identified should also be included in future studies to deepen our understanding of walking speed.

Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy.

INTRODUCTION/AIMS: Muscle weakness, and its association with mobility limitations, has received little study in oculopharyngeal muscular dystrophy (OPMD) using quantitative and standardized assessments. The objectives of this study were to (1) document upper and lower limb muscle strength, upper limb functions, fatigue, and mobility capacities; (2) compare them with reference values and across participant age groups; and (3) explore associations between muscle strength, fatigue, and mobility capacities among adults with OPMD. METHODS: Thirty-four participants were included in this cross-sectional study. The following variables were assessed: quantitative maximal isometric muscle strength, grip and pinch strength, fatigue, walking speed, walking endurance, sit-to-stand, and stair ascent and descent capacities. RESULTS: Muscle strength was lower for older than younger participants for five muscle groups (P < .05). Walking endurance, sit-to-stand, stairs (ascent and descent), and strength of hip flexion, grip, and pinch were below 80% of reference values in participants ≥56 y old (55.3%-78.2%). Moderate to strong correlations were found between muscle strength and mobility capacities (ρ = 0.42-0.80, P < .05), and between fatigue and either muscle strength or mobility capacities (ρ = 0.42-0.75, P < .05). DISCUSSION: This study highlights the impact of OPMD on strength, endurance, and functional capacity, among others, with patients being well below reference values even before the age of 65 y. In addition to helping health professionals to offer better clinical guidance, these results will improve clinical trial readiness. The next steps will be to assess the metrological properties of outcome measures and continue to document the disease progression rate.

Digital health metrics reveal upper limb impairment profiles in ARSACS.

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 and kinetic aspects underlying reduced upper limb coordination in ARSACS have not been systematically investigated yet. In this work, we aimed to provide a detailed characterization of alterations in upper limb movement patterns and hand grip forces in 57 participants with ARSACS. METHODS: We relied on a goal-directed technology-aided assessment task, which provides eight previously validated digital health metrics describing movement efficiency, smoothness, speed, and grip force control. RESULTS: First, we observed that 98.3% of the participants were impaired in at least one of the metrics, that all metrics are significantly impaired on a population level, and that grip force control during precise manipulations is most commonly and strongly impaired. Second, we identified high inter-participant variability in the kinematic and kinetic impairment profiles, thereby capturing different clinical profiles subjectively observed in this population. Lastly, abnormal goal-directed task performance in ARSACS could be best explained by reduced movement speed, efficiency, and especially force control during precise manipulations, while abnormal movement smoothness did not have a significant effect. INTERPRETATION: This work helped to refine the clinical profile of ARSACS and highlights the need for characterizing individual kinematic and kinetic impairment profiles in clinical trials in ARSACS.

French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia.

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 process was conducted according to the ISPOR guidelines for the translation and cultural adaptation process for patient-reported outcomes. A total of five translators, an expert committee, and two physiotherapists took part in the process to assess and ensure comprehension and language equivalences of the final French version. A few misinterpretations were pointed out during the translation process and were changed accordingly by the translation team. The French version of the SARA is ready to be used in clinical and research settings with French-speaking populations living with ataxia.

A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study.

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 accomplishment of activities of daily living. In this exploratory study, a group-supervised rehabilitation program was performed three times a week for 8 weeks (two sessions at a rehabilitation gym and one pool session). Outcome measures included the Ottawa Sitting Scale, Berg Balance Scale, modified Activities-specific Balance Confidence Scale, 30-Second Chair Stand Test, 10-Meter Walk Test, Barthel Index, and Scale for the Assessment and Rating of Ataxia. Significant improvements in balance, trunk control, maximal and self-selected walking speed difference, ataxia severity and accomplishment of specific activities of daily living were noted for the whole group at the end of the program. At the individual level, all participants improved beyond the standard error of measurement in at least two outcome measures. Also, most participants reported many perceived improvements related to balance, posture and functional mobility. This study provides encouraging results on the effects of a rehabilitation program for ambulatory people with ARSACS. Group intervention could have a positive impact on their daily lives and improve the health care service offered to this population. Future studies with larger sample sizes including control groups and other forms of ataxia are necessary to validate our results to generalize them.

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay.

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 the study. Participation was assessed using the LIFE-H. Motor performance was assessed using several outcomes including the SARA, LEMOCOT, Berg Balance Scale, 10-Meter Walk Test, and Finger-to-nose Test. Findings. Participation was significantly lower in the wheelchair user subgroup. Also, for 29 activities out of 77, at least 15% of participants reported severely disrupted participation. Participation was correlated with upper and lower limbs coordination, walking ability, balance, disease severity, and fine dexterity (Spearman r = .41-0.85, p < .03). Implications. Results showed significant participation restrictions and suggest that interventions aiming to improve or compensate upper and lower limbs functions could help to decrease disease burden.

Sexual activity based fears during pregnancy, sexual function and dyadic adjustment in couples who are expecting their first child.

Purpose: Sexual activity based fears during pregnancy are common, but very few studies have examined their association with relationship variables. Secondary analysis of associations between these fears during pregnancy and both partners' sexual function and dyadic adjustment were conducted.Materials and Methods: A sample of 67 French-Canadian first-time parenting couples living in Ontario completed online questionnaires on sexual activity based fears, sexual function, and dyadic adjustment as experienced during pregnancy.Results: While one-third of participants reported no fears, other couples experienced one to six fears, the two most common fears among partners being inducing labor and causing a miscarriage. Dyadic path analyses supported indirect associations between sexual activity based fears and lower dyadic adjustment via poorer sexual function. During pregnancy, these fears in women and men are associated with poorer dyadic adjustment in both partners through the women's poorer sexual function.Conclusion: These findings suggest including prenatal sexual activity based fears in perinatal sexuality counseling, education, and interventions.

How to Deal With Sexual Changes During and After Pregnancy: Results of a Brief Psycho-Educational Workshop With Future and New Parenting Couples.

After documenting parenting couples' needs regarding perinatal sexuality, this study developed and evaluated a brief psycho-educational workshop on perinatal sexuality. Participants (16 future and 17 new parents) completed five steps: (1) online questionnaire (T1) assessing needs toward the workshop and sexoperinatal knowledge, attitudes, and perceptions; (2) 2-hour online workshop on perinatal sexuality; (3) post-workshop satisfaction questionnaire; (4) 1-month (T2) and (5) 2-month (T3) post-workshop questionnaires with the same measures as in T1. One month after the workshop, knowledge, attitudes, and perceptions toward perinatal sexuality increased significantly. Sexoperinatal interventions from health-care workers are still uncommon, although there is a need for information and support. This brief online workshop is promising for better education and empowerment of parenting couples regarding perinatal sexuality.

Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder.

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 are insufficient to capture behavioral variability and detailed aspects of motor control. While digital health metrics extracted from technology-aided assessments promise more fine-grained outcome measures, these have not been validated in ARSACS. Thus, the aim was to document the metrological properties of metrics from a technology-aided assessment of arm and hand function in ARSACS. METHODS: We relied on the Virtual Peg Insertion Test (VPIT) and used a previously established core set of 10 digital health metrics describing upper limb movement and grip force patterns during a pick-and-place task. We evaluated reliability, measurement error, and learning effects in 23 participants with ARSACS performing three repeated assessment sessions. In addition, we documented concurrent validity in 57 participants with ARSACS performing one session. RESULTS: Eight metrics had excellent test-retest reliability (intraclass correlation coefficient 0.89 ± 0.08), five low measurement error (smallest real difference % 25.4 ± 5.7), and none strong learning effects (systematic change η -0.11 ± 2.5). Significant correlations (ρ 0.39 ± 0.13) with clinical scales describing gross and fine dexterity and lower limb coordination were observed. INTERPRETATION: This establishes eight digital health metrics as valid and robust endpoints for cross-sectional studies and five metrics as potentially sensitive endpoints for longitudinal studies in ARSACS, thereby promising novel insights into upper limb sensorimotor control.

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.

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 significant difference between participants with and without a walking aid in terms of lower limbs coordination, balance and mobility. Although participants who walk without a walking aid perform better than the others and they are below predictive or reference values. Despite significant mobility limitations, only mild spasticity and passive range of motion limitations were observed. However, there is a significant difference between unaffected individuals and participants with ARSACS for lower limb muscle cocontraction. CONCLUSIONS: Results show a high level of lower limb impairments, balance and mobility limitation in adults' participants with ARSACS that are still walking, including people not using a walking aid. One of the most original finding is the presence of excessive cocontraction and a relatively mild level of spasticity in the lower limbs muscles. Results of this study better circumscribes the impairments and activities that should be the focus of intervention including rehabilitation in ARSACS.

Testing an Online Training Session on Couples' Perinatal Sexual Changes Among Health Care Professionals and Paraprofessionals.

INTRODUCTION: During and after pregnancy, couples have to adapt to sexual changes. Although many couples have questions and preoccupations regarding those changes, they are rarely addressed by professionals and paraprofessionals in perinatal health care, mainly because of lack of knowledge and training. An online training session that addressed couples' perinatal sexual changes tailored for health care perinatal professionals (nurses and midwives) and paraprofessionals (doulas) was developed, implemented, and evaluated. METHODS: Participants completed 4 steps: (1) a baseline online questionnaire assessing training needs and measures on knowledge, attitudes, and perceived counseling skills regarding couples' perinatal sexual changes; (2) a 2-hour online training session on the topic with theoretical and practical content; (3) an online post-training satisfaction questionnaire; and (4) a one-month follow-up assessment using the same measures as at baseline. RESULTS: Of the 74 participants (20 nurses, 20 midwives, 34 doulas) who completed the study, 37.8% had previous training in sexuality and 18.9% in perinatal sexuality. Results showed pre- to post-training significant increases in knowledge and attitudes toward couples' perinatal sexual changes, characterized by more positivity, flexibility, openness, and sense of competence regarding the topic. There were also significant pre- to post-training increases in perceived utility, comfort, intention, and sense of self-efficacy related to counseling skills regarding couples' perinatal sexual changes. After training, more participants discussed couples' sexual changes with couples during and after pregnancy. After training, significantly fewer participants reported lack of knowledge, lack of training, and lack of discomfort as barriers to discussions on couples' perinatal sexual changes, whereas more reported lack of time as a barrier. Global satisfaction with the training was high. DISCUSSION: This training can help foster more discussions on the topic from perinatal professionals and paraprofessionals to better meet couples' needs for information and support.

Couple Adaptation to the Birth of a Child: The Roles of Attachment and Perfectionism.

This study aims to examine two explanatory factors of relationship satisfaction and parental alliance among both parents of a new child, namely romantic attachment and perfectionism. A sample of 80 couples completed individual online questionnaires. Path analyses based on the Actor-Partner Interdependence Model were carried out to explore the actor and partner effects of each explanatory variable (attachment, perfectionism) on both partners' postnatal relationship satisfaction and parental alliance. Results revealed that attachment avoidance is negatively related to each partner's own relationship satisfaction and parental alliance, whereas attachment anxiety is related to their own lower parental alliance. Maladaptive perfectionism is negatively related to each partner's own relationship satisfaction, whereas adaptive perfectionism is positively related to each partner's own relationship satisfaction. These results extend the understanding of the factors contributing to parental and couple adaptation in the postnatal period. They highlight the role of attachment and perfectionism for improving postnatal professionals' interventions.

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1.

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 individualized semi-supervised home-based exercise program on functional mobility, balance and lower limb strength, and to determine if an assistive training device has a significant impact on outcomes. METHODS: This study used a pre-post test design and men with the adult form of DM1 were randomly assigned to the control or device group. The training program was performed three times a week for 10 weeks and included three exercises (sit-to-stand, squat, and alternated lunges). Outcome measures included maximal isometric muscle strength, 10-Meter Walk Test, Mini-BESTest, 30-Second Chair Stand Test and 6-minute walk test. RESULTS: No outcome measures showed a significant difference, except for the strength of the knee flexors muscle group between the two assessments. All participants improved beyond the standard error of measurement in at least two outcome measures. The program and the device were well accepted and all participants reported many perceived improvements at the end of the program. CONCLUSIONS: Our results provide encouraging data on the effects and acceptability of a home-based training program for men with the adult form of DM1. These programs would reduce the financial burden on the health system while improving the clinical services offered to this population.

The role of clothing on participation of persons with a physical disability: A scoping review.

Determining ways to facilitate participation of persons with a physical disability is crucial and clothing may play a central role. This review aims to synthesize and examine the role of clothing on participation of persons with a physical disability. Six research databases and grey literature were searched following Arksey & O'Malley's six steps, including multiple expert consultations. English and French articles contributing to how clothing affects participation were included and tabulated based on the International Classification of Functioning, Disability and Health. Fifty-seven articles and 88 websites were included. A variety of stakeholder perspectives, diagnoses, and types of clothing were represented. Clothing mostly influences mobility and self-care, as well as various personal factors. Forty-nine percent of articles reported essential clothing design features to consider. Clothing is an important and complex environmental factor that interacts with all health domains, including participation. Future research should consider intersectoral initiatives.

Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.

OBJECTIVE: To develop a disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (DSI-ARSACS) that considers the 3 components (pyramidal, cerebellar, neuropathic) of the disease, and to document its content validity, internal consistency, and construct validity. METHODS: The Beta DSI-ARSACS (17 items) was developed based on literature review and expert inputs and then administered to 26 participants. Items reduction was based on Cronbach α and desirable criteria. Performance measures were administered to assess the construct validity of the final version of the DSI-ARSACS. RESULTS: The final DSI-ARSACS have 8 items that can be easily performed during usual medical follow-up. The mean score was 19.6 ± 8.1 (range 6.0-35.5) and the Cronbach α was 0.912. The DSI-ARSACS score increased with disease stage and age (p ≤ 0.001) and was closely correlated with other measures assessing similar construct (9-Hole Peg Test, 10-Meter Walk Test, Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, Barthel Index) (r s = 0.75-0.95, p < 0.01). A moderate but not significant correlation was found with the 6-Minute Walk test (r s = -0.611, p = 0.108). CONCLUSIONS: The DSI-ARSACS is a valid measure of disease severity for the adult ARSACS population that is able to distinguish between patients with different clinical profiles. Further documentation of metrologic properties is necessary, but these first results are promising.

Inclusion of Real-Time Hand Hygiene Observation and Feedback in a Multimodal Hand Hygiene Improvement Strategy in Low-Resource Settings.

Importance: Hand hygiene adherence monitoring and feedback can reduce health care-acquired infections in hospitals. Few low-cost hand hygiene adherence monitoring tools exist in low-resource settings. Objective: To pilot an open-source application for mobile devices and an interactive analytical dashboard for the collection and visualization of health care workers' hand hygiene adherence data. Design, Setting, and Participants: This prospective multicenter quality improvement study evaluated preintervention and postintervention adherence with the 5 Moments for Hand Hygiene, as suggested by the World Health Organization, among health care workers from April 23 to May 25, 2018. A novel data collection form, the Hand Hygiene Observation Tool, was developed in open-source software and used to measure adherence with hand hygiene guidelines among health care workers in the inpatient therapeutic feeding center and pediatric ward of Anka General Hospital, Anka, Nigeria, and the postoperative ward of Noma Children's Hospital, Sokoto, Nigeria. Qualitative data were analyzed throughout data collection and used for immediate feedback to staff. A more formal analysis of the data was conducted during October 2018. Exposures: Multimodal hand hygiene improvement strategy with increased availability and accessibility of alcohol-based hand sanitizer, staff training and education, and evaluation and feedback in near real-time. Main Outcomes and Measures: Hand hygiene adherence before and after the intervention in 3 hospital wards, stratified by health care worker role, ward, and moment of hand hygiene. Results: A total of 686 preintervention adherence observations and 673 postintervention adherence observations were conducted. After the intervention, overall hand hygiene adherence increased from 32.4% to 57.4%. Adherence increased in both wards in Anka General Hospital (inpatient therapeutic feeding center, 24.3% [54 of 222 moments] to 63.7% [163 of 256 moments]; P < .001; pediatric ward, 50.9% [132 of 259 moments] to 68.8% [135 of 196 moments]; P < .001). Adherence among nurses in Anka General Hospital also increased in both wards (inpatient therapeutic feeding center, 17.7% [28 of 158 moments] to 71.2% [79 of 111 moments]; P < .001; pediatric ward, 45.9% [68 of 148 moments] to 68.4% [78 of 114 moments]; P < .001). In Noma Children's Hospital, the overall adherence increased from 17.6% (36 of 205 moments) to 39.8% (88 of 221 moments) (P < .001). Adherence among nurses in Noma Children's Hospital increased from 11.5% (14 of 122 moments) to 61.4% (78 of 126 moments) (P < .001). Adherence among Noma Children's Hospital physicians decreased from 34.2% (13 of 38 moments) to 8.6% (7 of 81 moments). Lowest overall adherence after the intervention occurred before patient contact (53.1% [85 of 160 moments]), before aseptic procedure (58.3% [21 of 36 moments]), and after touching a patient's surroundings (47.1% [124 of 263 moments]). Conclusions and Relevance: This study suggests that tools for the collection and rapid visualization of hand hygiene adherence data are feasible in low-resource settings. The novel tool used in this study may contribute to comprehensive infection prevention and control strategies and strengthening of hand hygiene behavior among all health care workers in health care facilities in humanitarian and low-resource settings.

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

BACKGROUND AND PURPOSE: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger (<40 years) and older (≥40 years) participants. METHODS: A clinical interview based on a standardized questionnaire was conducted. It included the following items: memory and concentration problems, hearing impairment, epilepsy, spasms, choreathetosis, neuropathic pain, cramps and fecal incontinence. RESULTS: A total of 43 participants were interviewed, with a mean age of 38.9 years and 51.2% were men. Spasms (55.8%), cramps (53.5%), and concentration problems (39.5%) were the most frequent manifestations. Except for choreathetosis, which was present in only one participant, all other signs and symptoms were present in 9.3% to 29.3% of participants. CONCLUSIONS: People with ARSACS may experience many other clinical manifestations than the most commonly described. This study is a preliminary step toward the development of a comprehensive evidence-based clinical care guideline for this population.

Trauma périnéal à l'accouchement, intimité, ajustement dyadique et fonction sexuelle de nouveaux couples parentaux.

OBJECTIVE: This study focuses on perineal trauma during childbirth and its relationship to postnatal marital and sexual issues as expressed by the sexual function and perceived intimacy of new parent couples in Ontario. METHODS: As part of a retrospective study on perinatal intimate and sexual experiences, 67 Canadian French-speaking couples from Ontario (heterosexual couples with their first child between 6 and 12 months of age) were recruited. They filled out online questionnaires that included questions about the severity of the perineal trauma and validated questionnaires that evaluated perceived sexual intimacy, dyadic adjustment, and sexual function. RESULTS: Mediation analyses based on the actor-partner interdependence model were conducted and revealed that the severity of perineal trauma is linked to the perception of decreased intimacy and to weaker sexual function for the woman. Furthermore, the perception of decreased intimacy and the weak sexual function of the man and the woman are related to a weaker dyadic adjustment for the partners. CONCLUSION: The study emphasizes the importance of supporting women who have experienced perineal trauma due to childbirth, as well as their partners.

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase trial readiness. This study aimed to describe the clinical phenotype including dexterity, coordination, strength, mobility, balance, disease severity, participation, and quality of life observed in adults with ARSACS homozygous for the c.8844delT mutation. METHODS: Cross-sectional study with comparisons between disease stages and with reference values. Outcome measures included Standardized Finger-to-Nose Test, Grip/pinch strength, LEMOCOT, Six-Minute Walk Test, 10-Meter Walk Test, Berg Balance Scale, Spastic Paraplegia Rating Scale, Scale for the Assessment and Rating of Ataxia, LIFE-H, and SF-12. RESULTS: Twenty-eight participants were recruited with a mean age of 38.1 years. The majority presented with lower limb coordination and fine dexterity scores below three standard deviations compare to reference values, scored under predicted values for mobility measures and were at increased risk of fall. Participants at an earlier disease stage performed better than the others, but individual variability was observed. CONCLUSIONS: Results showed overall impaired motor performances and, even in a genetically homogeneous ARSACS population, an individual variability within disease stages. This study lays the foundation for a longitudinal study using quantified measurements.