Research on Monitoring Assistive Devices for Rehabilitation of Movement Disorders through Multi-Sensor Analysis Combined with Deep Learning.

This study aims to integrate a convolutional neural network (CNN) and the Random Forest Model into a rehabilitation assessment device to provide a comprehensive gait analysis in the evaluation of movement disorders to help physicians evaluate rehabilitation progress by distinguishing gait characteristics under different walking modes. Equipped with accelerometers and six-axis force sensors, the device monitors body symmetry and upper limb strength during rehabilitation. Data were collected from normal and abnormal walking groups. A knee joint limiter was applied to subjects to simulate different levels of movement disorders. Features were extracted from the collected data and analyzed using a CNN. The overall performance was scored with Random Forest Model weights. Significant differences in average acceleration values between the moderately abnormal (MA) and severely abnormal (SA) groups (without vehicle assistance) were observed (p < 0.05), whereas no significant differences were found between the MA with vehicle assistance (MA-V) and SA with vehicle assistance (SA-V) groups (p > 0.05). Force sensor data showed good concentration in the normal walking group and more scatter in the SA-V group. The CNN and Random Forest Model accurately recognized gait conditions, achieving average accuracies of 88.4% and 92.3%, respectively, proving that the method mentioned above provides more accurate gait evaluations for patients with movement disorders.

Neurological Examination via Telemedicine: An Updated Review Focusing on Movement Disorders.

Patients with movement disorders such as Parkinson's disease (PD) living in remote and underserved areas often have limited access to specialized healthcare, while the feasibility and reliability of the video-based examination remains unclear. The aim of this narrative review is to examine which parts of remote neurological assessment are feasible and reliable in movement disorders. Clinical studies have demonstrated that most parts of the video-based neurological examination are feasible, even in the absence of a third party, including stance and gait-if an assistive device is not required-bradykinesia, tremor, dystonia, some ocular mobility parts, coordination, and gross muscle power and sensation assessment. Technical issues (video quality, internet connection, camera placement) might affect bradykinesia and tremor evaluation, especially in mild cases, possibly due to their rhythmic nature. Rigidity, postural instability and deep tendon reflexes cannot be remotely performed unless a trained healthcare professional is present. A modified version of incomplete Unified Parkinson's Disease Rating Scale (UPDRS)-III and a related equation lacking rigidity and pull testing items can reliably predict total UPDRS-III. UPDRS-II, -IV, Timed "Up and Go", and non-motor and quality of life scales can be administered remotely, while the remote Movement Disorder Society (MDS)-UPDRS-III requires further investigation. In conclusion, most parts of neurological examination can be performed virtually in PD, except for rigidity and postural instability, while technical issues might affect the assessment of mild bradykinesia and tremor. The combined use of wearable devices may at least partially compensate for these challenges in the future.

Definition, diagnosis and classification of infection-related movement disorders: Consensus proposal.

BACKGROUND: Infection-related movement disorders (IRMD) present a complex diagnostic challenge due to the broad phenotypic spectrum, the variety of possible infectious aetiologies, and the complicated underlying mechanisms. Yet, a comprehensive framework for classifying IRMD is lacking. METHODS: An international consensus panel under the directives of the Movement Disorders Society Infection-Related Movement Disorders Study Group developed a comprehensive definition and a consensus classification system. Case scenarios were used for validation. RESULTS: A definition for IRMD and a two-axis-based classification system consisting of six descriptors are proposed, intended as tools for researchers and clinicians. Collected information on clinical characteristics, investigational findings, the infectious organism and presumed pathogenesis facilitate the evaluation of diagnostic certainty. CONCLUSION: The proposed framework will serve for optimised diagnostic algorithms, systematic aggregation of informative datasets across studies, and ultimately improved care and outcome of patients with IRMDs.

Experimental evidence for a robust, transdiagnostic marker in functional disorders: Erroneous sensorimotor processing in functional dizziness and functional movement disorder.

OBJECTIVE: Recent neuroscientific models suggest that functional bodily symptoms can be attributed to perceptual dysregulation in the central nervous system. Evidence for this hypothesis comes from patients with functional dizziness, who exhibit marked sensorimotor processing deficits during eye-head movement planning and execution. Similar findings in eye-head movement planning in patients with irritable bowel syndrome confirmed that these sensorimotor processing deficits represent a shared, transdiagnostic mechanism. We now examine whether erroneous sensorimotor processing is also at play in functional movement disorder. METHODS: We measured head movements of 10 patients with functional movement disorder (F44.4, ICD-10), 10 patients with functional dizziness (F45.8, ICD-10), and (respectively) 10 healthy controls during an eye-head experiment, where participants performed large gaze shifts under normal, increased, and again normal head moment of inertia. Head oscillations at the end of the gaze shift served as a well-established marker for sensorimotor processing problems. We calculated Bayesian statistics for comparison. RESULTS: Patients with functional movement disorder (Bayes Factor (BF)10 = 5.36, BFincl = 11.16; substantial to strong evidence) as well as patients with functional dizziness (BF10 = 2.27, BFincl = 3.56; anecdotal to substantial evidence) showed increased head oscillations compared to healthy controls, indicating marked deficits in planning and executing movement. CONCLUSION: We replicate earlier experimental findings on erroneous sensorimotor processing in patients with functional dizziness, and show that patients with functional movement disorder show a similar impairment of sensorimotor processing during large gaze shifts. This provides an objectively measurable, transdiagnostic marker for functional disorders, highlighting important implications for diagnosis, treatment, and de-stigmatization.

The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.

Children with developmental and epileptic encephalopathies often present with co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX-associated epilepsy-dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic and management challenges of ARX-related disorder and shed light on broader challenges concerning epilepsy-dyskinesia syndromes.

Movement Disorders in Patients with Subacute Sclerosing Panencephalitis: A Systematic Review.

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a complication of measles, occurring after a latency of 4-10 years. It continues to occur in developing countries although resurgence is being reported from developed countries. Characteristic features include progressive neuropsychiatric issues, myoclonus, seizures, movement disorders and visual impairment. Electroencephalography (EEG) typically shows periodic generalized discharges, and elevated CSF anti-measles antibodies are diagnostic. Movement disorders are being increasingly recognized as part of the clinical spectrum, and range from hyperkinetic (chorea, dystonia, tremor, tics) to hypokinetic (parkinsonism) disorders and ataxia. OBJECTIVES: This article aims to comprehensively review the spectrum of movement disorders associated with SSPE. METHODS: A literature search was conducted in PubMed and EMBASE databases in December 2023 and articles were identified for review. RESULTS: Movement disorders reported in SSPE included hyperkinetic (chorea, dystonia, tremor and tics), hypokinetic (parkinsonism), ataxia and extraocular movement disorders. Myoclonus, a core clinical feature, was the most frequent "abnormal movement." Movement disorders were observed in all clinical stages, and could also be a presenting feature, even sans myoclonus. Hyperkinetic movement disorders were more common than hypokinetic movement disorders. An evolution of movement disorders was observed, with ataxia, chorea and dystonia occurring earlier, and parkinsonism later in the disease. Neuroradiological correlates of movement disorders remained unclear. CONCLUSION: A wide spectrum of movement disorders was observed throughout the clinical stages of SSPE. Most data were derived from case reports and small case series. Multicentric longitudinal studies are required to better delineate the spectrum and evolution of movement disorders in SSPE.

Genetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze.

Genetic testing has become a valuable diagnostic tool for movement disorders due to substantial advancements in understanding their genetic basis. However, the heterogeneity of movement disorders poses a significant challenge, with many genes implicated in different subtypes. This paper aims to provide a neurologist's perspective on approaching patients with hereditary hyperkinetic disorders with a focus on select forms of dystonia, paroxysmal dyskinesia, chorea, and ataxia. Age at onset, initial symptoms, and their severity, as well as the presence of any concurrent neurological and non-neurological features, contribute to the individual clinical profiles of hereditary non-parkinsonian movement disorders, aiding in the selection of appropriate genetic testing strategies. There are also more specific diagnostic clues that may facilitate the decision-making process and may be highly specific for certain conditions, such as diurnal fluctuations and l-dopa response in dopa-responsive dystonia, and triggering factors, duration and frequency of attacks in paroxysmal dyskinesia. While the genetic and mutational spectrum across non-parkinsonian movement disorders is broad, certain groups of diseases tend to be associated with specific types of pathogenic variants, such as repeat expansions in many of the ataxias. Some of these pathogenic variants cannot be detected by standard methods, such as panel or exome sequencing, but require the investigation of intronic regions for repeat expansions, such as Friedreich's or FGF14-linked ataxia. With our advancing knowledge of the genetic underpinnings of movement disorders, the incorporation of precise and personalized diagnostic strategies can enhance patient care, prognosis, and the application and development of targeted therapeutic interventions.

Paraneoplastic movement disorders.

Paraneoplastic movement disorders are diverse autoimmune neurological illnesses occurring in the context of systemic cancer, either in isolation or as part of a multifocal neurological disease. Movement phenomena may be ataxic, hypokinetic (parkinsonian), or hyperkinetic (myoclonus, chorea, or other dyskinetic disorders). Some disorders mimic neurodegenerative or hereditary illnesses. The subacute onset and coexisting nonclassic features of paraneoplastic disorders aid distinction. Paraneoplastic autoantibodies provide further information regarding differentiating cancer association, disease course, and treatment responses. A woman with cerebellar ataxia could have metabotropic glutamate receptor 1 autoimmunity, in the setting of Hodgkin lymphoma, a mild neurological phenotype and response to immunotherapy. A different woman, also with cerebellar ataxia, could have Purkinje cytoplasmic antibody type 1 (anti-Yo), accompanying ovarian adenocarcinoma, a rapidly progressive phenotype and persistent disabling deficits despite immune therapy. The list of antibody biomarkers is growing year-on-year, each with its own ideal specimen type for detection (serum or CSF), accompanying neurological manifestations, cancer association, treatment response, and prognosis. Therefore, a profile-based approach to screening both serum and CSF is recommended. Immune therapy trials are generally undertaken, and include one or more of corticosteroids, IVIg, plasma exchange, rituximab, or cyclophosphamide. Symptomatic therapies can also be employed for hyperkinetic disorders.

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

OBJECTIVE: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings. METHODS: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency. RESULTS: Median age at presentation and diagnosis were 11.5 months (8-12 months) and 63 months (18 months -11 years), respectively. Median duration of follow-up was 14 years. Global developmental delay (6/6) and seizures (5/6) were the most common symptoms. Four patients presented with febrile seizures. The age at seizure-onset ranged between 8 months and 4 years. Most common seizure types were generalized tonic seizures (n = 4) and motor seizures resulting in drop attacks (n = 3). Slow background activity (n = 5) and generalized irregular sharp and slow waves (n = 3) were the most common EEG findings. Burst-suppression and electrical status epilepticus during slow-wave sleep (ESES) pattern was present in one patient. Three of six patients had drug-resistant epilepsy. Post-treatment clinical severity scores showed improvement regarding movement disorders and epilepsy. All patients were seizure-free in the follow-up. CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.

[Conclusion instead of exclusion-The clinical diagnosis of functional movement disorders]. / Abschluss statt Ausschluss ­ die klinische Diagnosesicherung funktioneller Bewegungsstörungen.

Functional neurological movement disorders are common in neurological practice and lead to a high degree of impairment and chronification. Affected patients usually receive a diagnosis with considerable delay and often do not get disease-specific treatment. The reasons for this delay are related to extensive diagnostic measures to exclude other nonfunctional neurological diseases. As a consequence, functional movement disorders are typically communicated as diagnoses of exclusion, which makes it difficult for patients to understand and accept the diagnosis. This is particularly unfortunate, because in the majority of patients the diagnosis can be made with confidence based on clinical features, i.e., inconsistency and incongruence. The clarification of the symptoms and the resulting treatment options should be supplemented by patient-friendly explanations of the pathophysiological basis of the disease. In this way, patients are enabled to understand and accept the diagnosis. Moreover, it can put an end to the search for a diagnosis, which can sometimes take decades, and paves the way for treatment. Thus, the diagnosis by exclusion itself becomes the starting point for treatment and can itself have a therapeutic effect.

[Interpretation of a concept for functional movement disorders from the perspective of older patients]. / Interpretation eines Konzepts für funktionelle Bewegungsstörungen aus der Sicht des alten Patienten.

A recently published concept considers a significant proportion of the occurrence and persistence of functional movement disorders (FMD) to be explained by increased/incorrect weighting of the expected movement (feedforward signal) in the presence of decreased/altered actual feedback of the movement. In the context of aging and age-associated diseases, there is an increased likelihood that these prerequisites will occur, also in combination. For example, the feedforward signal can be enhanced by accumulation of a wealth of experience but can for example become prone to error due to changes in attention and (fear of) falling. Conversely, the actual feedback is subject to age-related changes, such as reduction of sensory functions. This could explain why FMDs also occur in old age and offer treatment approaches for this so far poorly studied disorder. It follows that a specific focus on (the correction of) feedforward signals and strengthening as well as training of the actual feedback are potentially promising therapeutic approaches for older people with FMD.

[Understanding and explaining functional movement disorders]. / Funktionelle Bewegungsstörungen verstehen und verständlich machen.

Functional movement disorders are not uncommon in neurological consultations, hospitals and emergency departments. Although the disorder can usually be recognized clinically, the communication of the diagnosis is often unsatisfactory. Those affected are indirectly accused of a lack of insight or openness but it is often the doctors who fail to formulate a coherent and comprehensible explanation of the underlying disorder. In this review an integrative model for the development of functional movement disorders is presented, which places the motor (and nonmotor) symptoms in a neuroscientific light. In addition, explanations and metaphors are presented that have proven helpful in conveying an understanding of the disorder.

Factors Influencing Triage to Rehabilitation in Functional Movement Disorder.

BACKGROUND: Treatment of functional movement disorder (FMD) should be individualized, yet factors determining rehabilitation engagement have not been evaluated. Subspecialty FMD clinics are uniquely poised to explore factors influencing treatment suitability and triage. OBJECTIVES: To describe our approach and explore factors associated with triage to FMD rehabilitation. METHODS: We conducted a retrospective chart review of 158 consecutive patients with FMD seen for integrated assessment by movement disorders neurology and psychiatry, with the purpose of triage to rehabilitation. Demographic and clinical variables were compared between patients triaged to therapy versus no therapy, and logistic regression was used to explore factors predictive of triage outcome. Change in primary outcome scores were analyzed. RESULTS: Sixty-six patients (42%) were triaged to FMD therapy from July 2019 to December 2021. Patients triaged to therapy were more likely to have a constant movement disorder, gait disorder and/or tremor, hyperarousal, readiness for change, and people pleasing traits. Patients triaged to no therapy demonstrated persistent diagnostic disagreement, an inability to appreciate motor symptom inconsistency, low self-agency, a propensity to dissociate, and cluster B traits. 90% of patients triaged to rehabilitation had improved outcomes. CONCLUSIONS: The ability to "opt-in" to FMD rehabilitation relies on different factors than those relevant to establishing a diagnosis. Unlike many other neurological disorders, a triage and treatment planning step is recommended to identify those likely to meaningfully engage at that time. Holistic assessment through a transdisciplinary lens, and working collaboratively with the patient is essential to prioritize symptoms, determine engagement, and identify treatment targets.

Current opinions and practices in post-stroke movement disorders: Survey of movement disorders society members.

BACKGROUND: Post-stroke movement disorders (PSMD) encompass a wide array of presentations, which vary in mode of onset, phenomenology, response to treatment, and natural history. There are no evidence-based guidelines on the diagnosis and treatment of PSMD. OBJECTIVES: To survey current opinions and practices on the diagnosis and treatment of PSMD. METHODS: A survey was developed by the PSMD Study Group, commissioned by the International Parkinson's and Movement Disorders Society (MDS). The survey, distributed to all members, yielded a total of 529 responses, 395 (74.7%) of which came from clinicians with experience with PSMD. RESULTS: Parkinsonism (68%), hemiballismus/hemichorea (61%), tremor (58%), and dystonia (54%) were by far the most commonly endorsed presentation of PSMD, although this varied by region. Basal ganglia stroke (76% of responders), symptoms contralateral to stroke (75%), and a temporal relationship (59%) were considered important factors for the diagnosis of PSMD. Oral medication use depended on the phenomenology of the PSMD. Almost 50% of respondents considered deep brain stimulation and ablative surgeries as options for treatment. The lack of guidelines for the diagnosis and treatment was considered the most important gap to address. CONCLUSIONS: Regionally varying opinions and practices on PSMD highlight gaps in (and mistranslation of) epidemiologic and therapeutic knowledge. Multicenter registries and prospective community-based studies are needed for the creation of evidence-based guidelines to inform the diagnosis and treatment of patients with PSMD.

[Drug-induced movement disorders : nosology and treatment]. / Mouvements anormaux iatrogènes : aspects nosologiques et thérapeutiques.

Movements disorders are frequently encountered in general practice and emergency departments and are in many cases of iatrogenic origin. Dopamine D2 receptor blocking agents (DRBA), mainly neuroleptics, are most often incriminated. These drug-induced movement disorders (DIMD) can be classified according to the kinetics of the manifestations (acute DIMD and tardive syndromes), the phenomenology of the abnormal movements observed or depending on the pharmacological agent involved. The diagnosis is based on the time course of the events, clinical examination and meticulous anamnesis of the patient's previous and current treatments. Management is always based on the interruption of the suspected causal treatment when possible. Some cases have a severe prognosis and require immediate treatment.

Les mouvements anormaux sont fréquemment rencontrés en médecine générale et aux urgences et sont, dans de nombreux cas, d'origine iatrogène. Les molécules les plus souvent incriminées sont les agents bloqueurs des récepteurs dopaminergiques D2 (DRBA) et principalement les neuroleptiques. Ces mouvements anormaux iatrogènes (MAI) peuvent être classés selon la cinétique des manifestations (MAI aigus et syndromes tardifs), la sémiologie des mouvements observés, ou encore, selon l'agent pharmacologique en cause. Le diagnostic repose sur le décours temporel des manifestations, l'examen clinique et une anamnèse fouillée des traitements antérieurs et actuels du patient. La prise en charge repose toujours sur l'arrêt du traitement causal quand cela est possible. Il existe des situations urgentes grevées d'un pronostic sévère et redevables d'un traitement rapide.

Next-generation sequencing and bioinformatics in rare movement disorders.

The ability to sequence entire exomes and genomes has revolutionized molecular testing in rare movement disorders, and genomic sequencing is becoming an integral part of routine diagnostic workflows for these heterogeneous conditions. However, interpretation of the extensive genomic variant information that is being generated presents substantial challenges. In this Perspective, we outline multidimensional strategies for genetic diagnosis in patients with rare movement disorders. We examine bioinformatics tools and computational metrics that have been developed to facilitate accurate prioritization of disease-causing variants. Additionally, we highlight community-driven data-sharing and case-matchmaking platforms, which are designed to foster the discovery of new genotype-phenotype relationships. Finally, we consider how multiomic data integration might optimize diagnostic success by combining genomic, epigenetic, transcriptomic and/or proteomic profiling to enable a more holistic evaluation of variant effects. Together, the approaches that we discuss offer pathways to the improved understanding of the genetic basis of rare movement disorders.

Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice. Highlights: The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous associated challenges and limitations. These factors should be weighed on a case-by-case basis when requesting genetic tests in clinical practice.