Striatal Chloride Dysregulation and Impaired GABAergic Signaling Due to Cation-Chloride Cotransporter Dysfunction in Huntington’s Disease

Intracellular chloride (Cl–) levels in mature neurons must be tightly regulated for the maintenance of fast synaptic inhibition. In the mature central nervous system (CNS), synaptic inhibition is primarily mediated by gamma-amino butyric acid (GABA), which binds to Cl– permeable GABAA receptors (GABAARs). The intracellular Cl– concentration is primarily maintained by the antagonistic actions of two cation-chloride cotransporters (CCCs): Cl–-importing Na+-K+-Cl– co-transporter-1 (NKCC1) and Cl– -exporting K+-Cl– co-transporter-2 (KCC2). In mature neurons in the healthy brain, KCC2 expression is higher than NKCC1, leading to lower levels of intracellular Cl–, and Cl– influx upon GABAAR activation. However, in neurons of the immature brain or in neurological disorders such as epilepsy and traumatic brain injury, impaired KCC2 function and/or enhanced NKCC1 expression lead to intracellular Cl– accumulation and GABA-mediated excitation. In Huntington’s disease (HD), KCC2- and NKCC1-mediated Cl–-regulation are also altered, which leads to GABA-mediated excitation and contributes to the development of cognitive and motor impairments. This review summarizes the role of Cl– (dys)regulation in the healthy and HD brain, with a focus on the basal ganglia (BG) circuitry and CCCs as potential therapeutic targets in the treatment of HD.

Assistive Technology to Promote Adaptive Skills in Children and Adolescents With Rett Syndrome

Rett syndrome is classified within the rare genetic syndromes, characterised by intellectual delays, extensive motor impairments, lack of speech and communication difficulties, sensorial deficits, and problems in adaptive responding. That clinical conditions may be deleterious on their social image, status, and quality of life. A practice for addressing this problem is technology-based interventions. The use of assistive technologies, in particular microswitches, with children with RTT has been shown to effectively change the impact on their quality of life, facilitating access to recreational activities and improving their performance. Through the use of technology-aided programs, a child with RTT and multiple disabilities will be ensured with an independent access to positive stimulation. In this chapter, a selective literature review was carried out considering Rett Syndrome, assistive technologies, quality of life, and rare genetic syndromes. Empirical data demonstrated the effectiveness and suitability of interventions with AT, allowing participants to increase their level of independence.

Eyelid gestures for people with motor impairments

Although eye-based interactions can be beneficial for people with motor impairments, they often rely on clunky or specialized equipment (e.g., stationary eye-trackers) and focus primarily on gaze and blinks. However, two eyelids can open and close in different orders and for different duration to form rich eyelid gestures. We take a first step to design, detect, and evaluate a set of eyelid gestures for people with motor impairments on mobile devices. We present an algorithm to detect nine eyelid gestures on smartphones in real time and evaluate it with 12 able-bodied people and 4 people with severe motor impairments in two studies. The results of the study with people with motor-impairments show that the algorithm can detect the gestures with .76 and .69 overall accuracy in user-dependent and user-independent evaluations. Furthermore, we design and evaluate a gesture mapping scheme for people with motor impairments to navigate mobile applications only using eyelid gestures. Finally, we discuss considerations for designing and using eyelid gestures for people with motor impairments.

Longitudinal Prediction of Motor Dysfunction After Stroke: A Disconnectome Study.

Motricity is the most commonly affected ability after a stroke. While many clinical studies attempt to predict motor symptoms at different chronic time points after a stroke, longitudinal acute-to-chronic studies remain scarce. Taking advantage of recent advances in mapping brain disconnections, we predict motor outcomes in 62 patients assessed longitudinally two weeks, three months, and one year after their stroke. Results indicate that brain disconnection patterns accurately predict motor impairments. However, disconnection patterns leading to impairment differ between the three time points and between left and right motor impairments. These results were cross-validated using resampling techniques. In sum, we demonstrated that while some neuroplasticity mechanisms exist changing the structure-function relationship, disconnection patterns prevail when predicting motor impairment at different time points after stroke.

Dry EEG Measurement of P3 to Evaluate Cognitive Load During Sitting, Standing, and Walking

The impact of cognitive load on individuals with motor impairments is poorly understood. Cognitive load has been studied using subjective assessments, dual-task studies, physiological measures, and clinical metrics, which are specific to the motor task being performed and do not measure brain signals directly. Combining brain imaging with dual-task paradigms provides a quantitative, direct metric of cognitive load that is agnostic to the motor task. To better understand the impact of cognitive load during activities of daily living, we measured brain activity from a dry EEG headset as participants attended to an auditory stimulus paradigm during sitting, standing, and walking. The stimulus paradigm consisted of an auditory oddball task in which they had to report the number of oddball tones that were heard during each task. The P3 event-related potential, which is sensitive to cognitive load, was extracted from EEG signals in each condition. Results showed that P3 was significantly lower during walking compared to sitting (p = .039), indicating that cognitive load was higher during walking compared to the other activities. No significant differences in P3 were found between sitting and standing. Head motion did not have a significant impact on the measurement of cognitive load. These results encourage the use of a dry EEG system to further investigate cognitive load during dynamic activities in individuals with and without motor impairments.

Cognitive, emotional and motor disorders and their impact on the postoperative rehabilitation of neurosurgical patients

Pathological post-anesthetic changes can be determined by the type and duration of anesthesia, the somatic and neurological status of the patient in the preoperative period, age, etc.Objective: to assess the severity of cognitive (CI), emotional and motor impairments in patients who underwent spinal surgery.Patients and methods. The clinical study included 60 patients aged 30-74 years who underwent spinal surgery under general anesthesia. The neuropsychological, emotional, somatic, and neurological status were assessed at the baseline and one week, 3, and 6 months after the surgery. Thirty patients underwent a course of cognitive training (main group), and 30 patients were included in a comparison group.Results and discussion. In the postoperative period, pain indicators decreased in both groups. There was an improvement in cognitive functions, emotional state, and quality of life (QoL) in the main group 3 and 6 months after surgery. The inclusion of cognitive training in the rehabilitation program for patients undergoing neurosurgical spinal surgery improved cognitive and motor functions and the QoL of patients. Evaluation and treatment of neurosurgical patients are discussed, which are helpful to improve the results of rehabilitation and QoL in the postoperative period.Conclusion. Additional positive impact of cognitive-motor training for pain regression in patients after spinal surgery was observed.

Design and Evaluation of a Hands-Free Video Game Controller for Individuals With Motor Impairments

Over the past few decades, video gaming has evolved at a tremendous rate although game input methods have been slower to change. Game input methods continue to rely on two-handed control of the joystick and D-pad or the keyboard and mouse for simultaneously controlling player movement and camera actions. Bi-manual input poses a significant play impediment to those with severe motor impairments. In this work, we propose and evaluate a hands-free game input control method that uses real-time facial expression recognition. Through our novel input method, our goal is to enable and empower individuals with neurological and neuromuscular diseases, who may lack hand muscle control, to be able to independently play video games. To evaluate the usability and acceptance of our system, we conducted a remote user study with eight severely motor-impaired individuals. Our results indicate high user satisfaction and greater preference for our input system with participants rating the input system as easy to learn. With this work, we aim to highlight that facial expression recognition can be a valuable input method.

Assistive Robots for Patients with ALS: An Exploratory Study with an Early Stage Demonstrator (Preprint)

BACKGROUND Although robotic manipulators have great potential in promoting motor independence of people with motor impairments, only few systems are currently commercially available. In addition to technical, economic and normative barriers, a key challenge for their diffusion is the current lack of evidence regarding usefulness, acceptance and user-specific requirements. OBJECTIVE Against this background, a semi-autonomous robot system was developed in the R&D project ROBINA to support people with amyotrophic lateral sclerosis (ALS) in various everyday activities. METHODS The developed early stage demonstrator was evaluated in a task-based laboratory study with eleven ALS patients. Based on a mixed-methods design consisting of standardized questionnaires, observation protocols, and semi-structured interviews, participants were asked about usability, acceptance, and design requirements. RESULTS The majority of the participants considered the system provide relevant support within the test scenarios and perceived it as easy to use. Technical requirements consisted in precise object manipulation, reliable autonomous robot actions, and an intuitive GUI. In addition, the adaptability of the system to the abilities and disease-related limitations of the users, as well as a higher degree of intervention in the control and autonomous robot actions, was highlighted. Finally, the need for a holistic concept of robotic assistance in order to adequately address user-specific needs, was emphasized. CONCLUSIONS In summary, it can be stated that robotic manipulators can contribute to the compensation of motor impairments and increase both the autonomy and the psychological well-being of those affected. In this context, further opportunities to relieve the burden on the care network can be expected, especially regarding repetitive actions. CLINICALTRIAL The study is registered in the German Clinical Trials Registry (DRKS00016554).