Effectiveness of rehabilitation intervention in persons with Friedreich ataxia

IntroductionThe relevance of rehabilitation in progressive neurological disorders, such as Friedreich’s Ataxia (FRDA), has yet to be convincingly proven. FRDA is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. The disease onset is usually in adolescence, leading to progressive disability. Omaveloxolone has been recently approved as the first pharmacological treatment for FRDA in adults and adolescents aged 16 years and older. Regarding non-pharmacological therapies, neurorehabilitation is a valuable aid in addressing the symptoms and in maintaining the residual functioning. We performed a prospective observational cohort study to evaluate the efficacy of inpatient rehabilitation (IR) for people with FRDA.MethodsA total of 42 individuals (29 adults and 13 children) with FRDA were recruited. There were 27 ambulant and 15 non-ambulant participants. The patients underwent IR of 3 and 4 weeks in children and adults, respectively. The IR treatment was designed to be applied within a multidisciplinary setting, so FRDA patients underwent, in addition to physiotherapy, also occupational therapy, practical manual activities and psychological support aiming to enhance transferable skills useful in the activities of daily living. The primary outcome was the Scale for the Assessment and Rating of Ataxia (SARA). Other measures were: Friedreich Ataxia Rating Scale (FARS) and Nine Hole Peg Test (NHPT). Furthermore, we used the 6 Minute Walk Test (6MWT), the Timed Up and Go (TUG) and the Berg Balance Scale (BBS) only on ambulant subjects. Outcomes were evaluated at baseline and at the end of the treatment.ResultsWe report that the IR significantly improves motor performance and ataxia symptoms in patients with FRDA. Our study shows significant functional improvement in all the outcome measures used, except for NHPT bilaterally. FARS and SARA scores post-IR are significatively reduced when compared (p < 0.001).DiscussionWe demonstrate that IR programs in FRDA can provide a meaningful clinical improvement in terms of outcome measures. These findings could be useful when approaching progressive neurological disorders

Cellular Stretching Device 2019

To study mechanobiology, cells are deformed uniaxially or biaxially and cell behavior is observed. The devices that currently exist on the market for stretching cells come at a high cost, cannot be custom programmed, and typically lack both uniaxial and biaxial functionality. The primary goal of our project was to develop a precise cell stretching device for biaxial strain application at different magnitudes, rates, and patterns to observe cellular effects. To develop a custom device with stretching functionality, our team designed and tested multiple motor-based cell stretching devices. The final design consists of a low profile, four linear actuator stretching system which successfully stretches cells at a range of strains, frequencies, and strain patterns over a 24-hour period

Effectiveness of commercial video gaming on fine motor recovery in chronic stroke within community-level rehabilitation

Introduction: Chronic stroke survivors often live with persisting upper extremity deficits that affect their daily life, and are traditionally offered little rehabilitation. Commercial gaming can act as a motivating way to complete rehabilitation. Purpose: To investigate the effectiveness of commercial gaming as an intervention for fine motor recovery in chronic stroke. Methods: Ten chronic phase post-stroke participants completed a 16-session program using the Nintendo Wii for 15 minutes 2x/week with their more affected hand. Measures used at four testing sessions included: Jebsen Hand Function Test (JHFT), Box and Blocks Test (BBT), Nine Hole Peg Test (NHPT), Stroke Impact Scale (SIS). Results: Significant improvements were found with the JHFT, BBT and NHPT from pre-testing to post-testing. There was an increase in perceived quality of life from pre-testing to post-testing, as determined by the SIS. Conclusion: Commercial gaming may be a viable resource for those with chronic stroke

Low-Cost Objective Measurement of Prehension Skills

This thesis aims to explore the feasibility of using low-cost, portable motion capture tools for the quantitative assessment of sequential 'reach-to-grasp' and repetitive 'finger-tapping' movements in neurologically intact and deficit populations, both in clinical and non-clinical settings. The research extends the capabilities of an existing optoelectronic postural sway assessment tool (PSAT) into a more general Boxed Infrared Gross Kinematic Assessment Tool (BIGKAT) to evaluate prehensile control of hand movements outside the laboratory environment. The contributions of this work include the validation of BIGKAT against a high-end motion capture system (Optotrak) for accuracy and precision in tracking kinematic data. BIGKAT was subsequently applied to kinematically resolve prehensile movements, where concurrent recordings with Optotrak demonstrate similar statistically significant results for five kinematic measures, two spatial measures (Maximum Grip Aperture – MGA, Peak Velocity – PV) and three temporal measures (Movement Time – MT, Time to MGA – TMGA, Time to PV – TPV). Regression analysis further establishes a strong relationship between BIGKAT and Optotrak, with nearly unity slope and low y-intercept values. Results showed reliable performance of BIGKAT and its ability to produce similar statistically significant results as Optotrak. BIGKAT was also applied to quantitatively assess bradykinesia in Parkinson's patients during finger-tapping movements. The system demonstrated significant differences between PD patients and healthy controls in key kinematic measures, paving the way for potential clinical applications. The study characterized kinematic differences in prehensile control in different sensory environments using a Virtual Reality head mounted display and finger tracking system (the Leap Motion), emphasizing the importance of sensory information during hand movements. This highlighted the role of hand vision and haptic feedback during initial and final phases of prehensile movement trajectory. The research also explored marker-less pose estimation using deep learning tools, specifically DeepLabCut (DLC), for reach-to-grasp tracking. Despite challenges posed by COVID-19 limitations on data collection, the study showed promise in scaling reaching and grasping components but highlighted the need for diverse datasets to resolve kinematic differences accurately. To facilitate the assessment of prehension activities, an Event Detection Tool (EDT) was developed, providing temporal measures for reaction time, reaching time, transport time, and movement time during object grasping and manipulation. Though initial pilot data was limited, the EDT holds potential for insights into disease progression and movement disorder severity. Overall, this work contributes to the advancement of low-cost, portable solutions for quantitatively assessing upper-limb movements, demonstrating the potential for wider clinical use and guiding future research in the field of human movement analysis

Human Genetic Diseases

The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the "genetic approach" to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences

Dignity therapy: a psychotherapeutic intervention to enhance the end of life experience for people with Motor Neurone Disease and their family carers

Background: Dignity therapy has not been tested in people with MND and their families. Methods: This cross-sectional feasibility study used a one-group pre/post-test design with 29 people with MND and 18 family carers. Results: There were no significant changes on the outcomes. Feedback responses indicate dignity therapy is acceptable. Dignity therapy is feasible if communication issues can be overcome. Conclusions: While dignity therapy is feasible and acceptable, further research is warranted to explore its ability to diminish distress