Dyskinesia

In healthy humans, brain functional representation of actions, either executed or observed, relies on the human action observation network (AON). Several studies demonstrated that AON activation is crucial for action understanding and for subserving imitation by observation of new motor skills. The demonstration of the activation of this circuit in patients with motor disorders have opened the way to new rehabilitation protocols based on the observation of meaningful actions followed by their execution (Observation to Imitate), often referred as Action Observation Therapy (AOT). In the last decade, AOT was widely used in adult stroke patients as well as in children with cerebral palsy (CP). Overall, these studies demonstrate a significant motor improvement after therapy, that is maintained at follow-up. Functional Magnetic Resonance Imaging (fMRI) studies on the effects of AOT found a positive correlation between the functional improvements of manual abilities of these patients and the enlargement of movement-related brain regions, suggesting that AOT can promote the activation of mechanisms of brain plasticity and functional reorganization of the cortical areas responsible for movements. Recently, fMRI studies have demonstrated that also other brain regions, such as the cerebellum, the thalamus and the basal ganglia, belong to the AON. Despite numerous studies on AON, the fine-grained details of this complex network, especially at subcortical level, and the reciprocal interactions between different brain regions are largely unknown. Moreover, no studies are available at submillimeter level concerning the involvement of subcortical structures. Compared with lower magnetic field systems, Ultra-High Field Magnetic Resonance (UHF-MR) permits a remarkable gain in terms of signal to noise ratio (SNR). This significant increase in SNR produces a great improvement of all imaging parameters, and can be exploited increasing spatial and/or temporal resolution. Moreover, at 7T, we assist also to an empowered sensitivity of the signal to modifications of the composition of tissue that can be translated in new or improved contrasts, such as susceptibility-weighted imaging. fMRI technique is an advanced MR method that benefits from the use of UHF thanks to the positive combination of increased SNR and increased sensitivity to the effect generating the contrast (BOLD effect). It has been demonstrated that an increase in the spatial resolution of UHF fMRI allows to describe the functional architecture of the cerebral cortex at mesoscopic (sub-millimeter) scale, hence revealing cortical columns-laminar fMRI profiles, and to segment subcortical structures, to explore their functional selectivity to external stimuli and topographic organization, and to study the cortex. Moreover, the increase in the sensitivity of fMRI at 7T allows to obtain statistically significant functional maps of brain activation not only in groups of subjects but also in individual subjects and individual events, opening new perspectives in the use of fMRI for clinical purposes. The present study aims to use 7T fMRI to understand the mechanisms of the functional organization of the AON circuit, and in particular the relationship between the cerebral cortex and other structures such as the subcortical nuclei and the cerebellum, and to explore how this organization changes in the presence of lesions acquired at an early age, such as in patients with brain lesions that arose in the pre- or perinatal period, like Cerebral Palsy (CP). We intend to enroll 28 healthy human subjects and 12 adolescents or young adults with CP. All participants will perform a 7 Tesla MRI scan, with a functional and anatomical dedicated protocol and CP patients will have a comprehensive clinical assessment before the MRI exam. The MR protocol includes 3D MR sequences with very high spatial resolution. In particular, T1-weighted sequences with isotropic voxel size of 0.8mm is used in order to highlight and segment small substructures, but at the same time evaluating the compliance of subjects, especially of patients, in maintaining the position for long acquisition, without introducing motion artifacts. Analogously, 3D FLAIR sequences are acquired for a detailed study of lesions in CP patients. fMRI acquisitions in humans are carried out by using Gradient-Echo Echo-Planar Imaging (GRE-EPI) sequences with spatial resolutions depending on the target of each functional series and by using imaging acceleration techniques as SENSE and multi-band approaches. For the study of functional connectivity and the whole AON circuit, comprehensive of the cerebellum, we will privilege whole brain coverage and relatively short temporal resolution (1-1.5 seconds), with a spatial resolution of 1.5mm isotropic voxel. On the other hand, for small substructures and laminar column studies, we will optimize an fMRI acquisition with isotropic voxel size of 0.7-0.9mm. As functional task we use paradigms already described in previous studies and adapted for the 7T scanner. Visual stimuli are presented in binocular vision by means of Liquid Cristal Display (LCD) goggles (VisuaStim-SVGA-Resonance Technology, USA). Participants observe short video-clips (lasting 4 s each), showing unimanual or bimanual actions performed by an actor, from a subjective perspective. The observed actions consist in grasping and using different tools (e.g., hammering, using a screwdriver, opening a jar etc.) or, as control condition, observation of the static initial frame of each clip. The objects are of different colors in order to avoid visual adaptation. The visual characteristics of each video are balanced between the experimental conditions to control the effects of brightness, contrast, sharpness and amount of visual information. During the rest period, in the absence of experimental stimuli, the participant have to fixate a white cross on a black background. During the entire fMRI acquisition, subject's performance are visually checked by the experimenter and kinematic parameters are recorded by using MR-compatible cameras.

Adults with cerebral palsy (CP) often face challenges in accessing exercise programmes that are appropriate for their needs. Barriers such as limited mobility, a lack of tailored options, and restricted access to physiotherapy services can make participation difficult. Exercise is important for improving physical health, mental well-being, and overall quality of life. However, many adults with CP do not have regular opportunities to take part in structured physical activity. This study aims to investigate whether an online exercise programme can serve as an effective and accessible alternative. The main aim of the study is to assess the feasibility of delivering an online exercise programme for adults with CP. Key areas of focus will include demand, implementation, practicality, adaptability, acceptability, and potential benefits to physical, mental, and social well-being. A total of 60 adults with CP will be recruited and randomly assigned to one of two groups (30 participants per group). One group will complete an 8-week online exercise and education programme. The second group will receive the same educational materials during the study and will be provided with information about the home exercise programme after the 8-week intervention period. Data will be collected on attendance, completion rates, engagement with exercises, and any reported adverse events. Health-related surveys will be completed before and after the programme to assess any changes. In addition, a selected group of participants from the intervention group will take part in interviews to provide feedback on their experiences. Findings from this study may support the development of accessible, effective, and person-centred online exercise programmes for adults with CP. Results may help improve future programme design and contribute to better care and support for adults with CP in Ireland.

The therapy being trialed in this study uses motor learning theory to try and improve or change walking patterns to improve the child/teen's walking goal. Therapy will target their own walking goal and they can choose the format of their therapy as long as they complete 30 hours of which 24 hours must be in the clinic within a 6 week period.

The use of deep brain stimulation (DBS) has expanded to include multiple conditions in children including dystonia, epilepsy, Tourette syndrome and mood disorders. Despite its growing application, DBS remains a low-volume procedure in most pediatric centers, which limits opportunities for large-scale research studies. To overcome this challenge, an international data-sharing platform is essential for advancing knowledge about DBS in pediatric patients, particularly concerning surgical techniques and patient outcomes across various conditions. This study aims to establish a multicenter pediatric DBS registry. With limited data on pediatric DBS outcomes and a small number of cases at individual centers, there is a need for a comprehensive registry to enable large-scale, well-powered analyses of DBS safety and effectiveness. The primary goals of this study are to: * Establish and implement a multi-center pediatric DBS registry * Facilitate large-scale analyses of DBS safety and effectiveness in children * Refine DBS as a treatment option for dystonia and other hyperkinetic movement disorders in children. Secondary objectives include: * Identifying which patients benefit most from DBS * Determining clinical variables that influence DBS responsiveness * Identifying optimal implant sites for specific conditions * Understanding the long-term effects of DBS in children * Assessing the impact of DBS on the quality of life in pediatric patients The study will involve both prospective and retrospective data collection from pediatric DBS patients.

Prior to the start of the study, researchers will conduct a phone screening with the family to confirm their child's eligibility to participate in the study. Once eligibility is confirmed, during the pretest session (week 1), standardized assessments will be conducted to evaluate the child's ability to use their affected arm for different functional activities. During this testing visit, researchers will also attach small sensors on the child's arms and ask them to complete arm movements and functional tasks (e.g., lifting blocks and putting them into a small cup). At the pretest, the child will also be provided 2 activity monitors (similar to wrist watches) to wear on both wrists for 1 week. The activity monitors will allow the researchers to track the child's habitual arm activity over the duration of a week. In addition, caregivers will be asked to complete questionnaires to obtain information on their child's overall health, development, and their ability to use their affected arm for various activities of daily living. Assessments and questionnaires will be repeated again at the posttest (i.e., at week 8 that corresponds with completion of the 6-week intervention phase) and at 1-month follow-up following intervention completion (i.e., week 12). Following the pretest, the child will be randomized into one of the training groups (SPEED or CRAFT). During the 6-week intervention phase, the research team will visit the child's home/community 2 times/week to provide the training. Caregivers will be requested to practice 2 additional sessions every week with their child in both groups. Children in the Strength and Power in upper Extremities through Exploratory Driving (SPEED) training group will engage in multidirectional navigation games and object-based upper extremity quests using the ride-on toys. The toy will be modified to enable operation in a single joystick control mode with the joystick control provided on the child's affected side. The training activities will be designed to encourage children to use their affected arm for training activities. The training will involve children driving through incrementally challenging courses/paths and completing object-based tasks that require use of their affected arm for reaching, grasping, release, and fine manipulation activities. Children will be asked to wear a mitten on their unaffected hand during the sessions. Children in the Creative Rehabilitation for Arm Functional Training (CRAFT) group will engage in seated creative motor games that will encourage use of their affected arm. Training activities will involve stretching and strengthening exercises, building activities (e.g., using Play-doh, blocks, etc.), and art-craft projects, all of which will require the skillful use of the affected arm for reach, grasp, release, and manipulation activities. Research-delivered sessions in both groups will last around 30-45 minutes. Caregivers will be encouraged to provide 2 more sessions every week lasting about 15-20 minutes/session. The research team will provide caregivers in both groups with the required materials for caregiver sessions. In the SPEED group, the ride-on toy will be left with the family for the duration of the intervention (i.e., 6 weeks). Both researchers and caregivers will be asked to keep track of training sessions (duration, frequency, etc.) using a training log. During the course of the study, children in both groups will continue to receive treatment-as-usual through school or private settings. Families will be asked to log the therapies their child is receiving every week over the course of the study using a training diary (# of times/week, duration of each session, type of therapy received) provided by the researchers. Researchers will video record all testing and researcher-delivered training sessions so that children's performance can be scored later.

This is a post-approval registry which is required by of the approval under PMA P150038/S014 for the Exablate® Model 4000 (Exablate Neuro) Type 1.0 and Type 1.1 for unilateral pallidotomy in the treatment of idiopathic Parkinson's Disease with medication-refractory moderate to severe motor complications. Subjects participating in this registry will have received a unilateral pallidotomy using the commercially available Exablate Neuro. The following assessments will be collected at Baseline, 3, 6, and 12 months post Exablate procedure and annually thereafter for 5 years: Adverse Events (AEs) (does not apply to Baseline Visit) Medication usage MDS-UPDRS Unified Dyskinesia Rating Scale EQ-5D-5L WPAI-GH Clinician and Patient Global Impression of Change Patient Satisfaction Questionnaire

Overview: The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, which are monogenic diseases causing both movement disorders and epilepsy. Design: Multinational Retrospective Survey: Survey Details: Endorsed by the International Parkinson and Movement Disorder Society, this multinational retrospective survey seeks to gather comprehensive data on: * Clinical Features and Progression: Examining developmental history and treatment responses. * Disease Aspects: Including the age of onset for movement disorders and seizures, genetic variants, and concurrent neurological conditions. Data Harmonization: By standardizing data collection across countries, the survey aims to overcome barriers in rare disease research and provide a unified understanding of these conditions. Study Aims: This study seeks to broaden our understanding of the spectrum and association of movement and seizure disorders through a retrospective review. By analyzing clinical data, the study aims to identify patterns and correlations between these conditions while investigating molecular data to uncover underlying genetic and biochemical mechanisms. The ultimate goal is to enhance knowledge of how these disorders interact and progress over time, offering new insights at both clinical and molecular levels. Overarching Goals: 1. Enhance understanding of movement disorders and epilepsy. 2. Inform precision medicine approaches. 3. Foster international collaboration for rare disease research.

Parkinson's disease (PD) is a neurological condition, which affects the brain. Some symptoms of PD are tremors, stiffness, and slowness of movement. This study will assess change in sleep disturbances of adult participants with advanced Parkinson's disease receiving subcutaneous Foslevodopa/Foscarbidopa under routine clinical practice. Foslevodopa/Foscarbidopa is an approved drug for the treatment of Parkinson's Disease. Approximately 103 adult participants who are prescribed Foslevodopa/Foscarbidopa by their doctors will be enrolled across approximately 20 sites across Spain. Participants will receive Foslevodopa/Foscarbidopa subcutaneous infusion as prescribed by their physician. Participants will be followed for up to 12 weekss. There is expected to be no additional burden for participants in this trial. Participants will attend regular visits during the study at a hospital or clinic according to their routine clinical practice.

This study will evaluate the efficacy of valbenazine on clinician- and patient-reported outcomes in participants with TD while receiving or after stopping a VMAT2 inhibitor.

ADROIT is an international, prospective, multicenter, observational, post-market study intended to collect worldwide long-term safety and effectiveness data on subjects implanted with market-released Abbott DBS systems in routine clinical practice. Subjects will be followed for 5 years after the initial programming visit.