ABSTRACT
Disorders of the gastrointestinal tract in patients suffering from hypokinetic movement disorders, and in particular Parkinson's disease, have increasingly been the subject of more intensive neuromedical research. So far, few data are available for patients with hyperkinetic movement disorders and ataxias. This review article summarizes the currently available and relevant publications on this topic. The particular focus is on essential tremor, restless legs syndrome, Huntington's disease and the group of hereditary ataxias. Further intensive research will be necessary in the future to collect detailed information also for these disease symptoms about specific disturbance patterns, in order to understand the underlying pathological pathways and to derive specific treatment approaches.
Subject(s)
Gastrointestinal Diseases , Movement Disorders , Humans , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/therapy , Movement Disorders/diagnosis , Movement Disorders/physiopathology , Movement Disorders/therapy , Hyperkinesis/diagnosis , Ataxia/diagnosis , Ataxia/therapy , Ataxia/physiopathology , Huntington Disease/diagnosis , Huntington Disease/therapy , Huntington Disease/physiopathology , Restless Legs Syndrome/diagnosis , Restless Legs Syndrome/therapy , Essential Tremor/diagnosis , Essential Tremor/physiopathology , Essential Tremor/therapySubject(s)
Hyperkinesis , Practice Guidelines as Topic , Child , Humans , Hyperkinesis/diagnosis , Hyperkinesis/therapyABSTRACT
We report a case of a 3-year-old boy who presented with abnormal movements that initially occurred only during sleep. Three years later, he went on to develop hyperkinetic movements during the daytime while awake. There was a strong family history of various paroxysmal neurologic disorders. In this report, we discuss the clinical approach, differential diagnosis, investigation, and treatment options for nocturnal hyperkinetic movements and paroxysmal movement disorders.
Subject(s)
Dyskinesias , Movement Disorders , Male , Humans , Child, Preschool , Hyperkinesis/diagnosis , Movement Disorders/diagnosis , Movement Disorders/etiology , Sleep , Clinical ReasoningABSTRACT
The "epilepsy-dyskinesia" spectrum is increasingly recognized in neurogenetic and neurometabolic conditions. It can be challenging to diagnose because of clinical and genetic heterogeneity, atypical or nonspecific presentations, and the rarity of each diagnostic entity. This is further complicated by the lack of sensitive or specific biomarkers for most nonenzymatic neurometabolic conditions. Nevertheless, clinical awareness and timely diagnosis are paramount to facilitate appropriate prognostication, counseling, and management.This report describes a case of a teenage girl who had presented at 14 months with a protracted illness manifesting as gastrointestinal upset and associated motor and cognitive regression. A choreoathetoid movement disorder, truncal ataxia, and microcephaly evolved after the acute phase. Neurometabolic and inflammatory investigations, EEG, brain MRI, muscle biopsy (including respiratory chain enzyme studies), and targeted genetic testing were unremarkable. A second distinct regression phase ensued at 14 years consisting of encephalopathy, multifocal motor seizures, absent deep tendon reflexes and worsening movements, gut dysmotility, and dysphagia. Video EEGs showed an evolving developmental and epileptic encephalopathy with multifocal seizures and nonepileptic movements. MRI of the brain revealed evolving and fluctuating patchy bihemispheric cortical changes, cerebellar atrophy with signal change, mild generalized brain volume loss, and abnormal lactate on MR spectroscopy. The article discusses the differential diagnostic approach and management options for patients presenting with neurologic regression, encephalopathy, seizures, and hyperkinetic movements. It also emphasizes the utility of next-generation sequencing in providing a rapid, efficient, cost-effective way of determining the underlying etiology of complex neurologic presentations.
Subject(s)
Brain Diseases , Epilepsy , Female , Adolescent , Humans , Hyperkinesis/diagnosis , Brain Diseases/complications , Seizures/complications , Epilepsy/diagnosis , Clinical Reasoning , Electroencephalography/methodsABSTRACT
INTRODUCTION: Our aim is to develop a novel approach to hyperkinetic movement disorder classification, that combines clinical information, electromyography, accelerometry and video in a computer-aided classification tool. We see this as the next step towards rapid and accurate phenotype classification, the cornerstone of both the diagnostic and treatment process. METHODS AND ANALYSIS: The Next Move in Movement Disorders (NEMO) study is a cross-sectional study at Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen. It comprises patients with single and mixed phenotype movement disorders. Single phenotype groups will first include dystonia, myoclonus and tremor, and then chorea, tics, ataxia and spasticity. Mixed phenotypes are myoclonus-dystonia, dystonic tremor, myoclonus ataxia and jerky/tremulous functional movement disorders. Groups will contain 20 patients, or 40 healthy participants. The gold standard for inclusion consists of interobserver agreement on the phenotype among three independent clinical experts. Electromyography, accelerometry and three-dimensional video data will be recorded during performance of a set of movement tasks, chosen by a team of specialists to elicit movement disorders. These data will serve as input for the machine learning algorithm. Labels for supervised learning are provided by the expert-based classification, allowing the algorithm to learn to predict what the output label should be when given new input data. Methods using manually engineered features based on existing clinical knowledge will be used, as well as deep learning methods which can detect relevant and possibly new features. Finally, we will employ visual analytics to visualise how the classification algorithm arrives at its decision. ETHICS AND DISSEMINATION: Ethical approval has been obtained from the relevant local ethics committee. The NEMO study is designed to pioneer the application of machine learning of movement disorders. We expect to publish articles in multiple related fields of research and patients will be informed of important results via patient associations and press releases.
Subject(s)
Dystonic Disorders , Movement Disorders , Computers , Cross-Sectional Studies , Humans , Hyperkinesis/diagnosis , Movement Disorders/diagnosisABSTRACT
INTRODUCTION: To guide the neurologist and neurophysiologist with interpretation and implementation of clinical neurophysiological examinations, we aim to provide a systematic review on evidence of electrophysiological features used to differentiate between hyperkinetic movement disorders. METHODS: A PRISMA systematic search and QUADAS quality evaluation has been performed in PubMed to identify diagnostic test accuracy studies comparing electromyography and accelerometer features. We included papers focusing on tremor, dystonia, myoclonus, chorea, tics and ataxia and their functional variant. The features were grouped as 1) basic features (e.g., amplitude, frequency), 2) the influence of tasks on basic features (e.g., entrainment, distraction), 3) advanced analyses of multiple signals, 4) and diagnostic tools combining features. RESULTS: Thirty-eight cross-sectional articles were included discussing tremor (n = 28), myoclonus (n = 5), dystonia (n = 5) and tics (n = 1). Fifteen were rated as 'high quality'. In tremor, the basic and task-related features showed great overlap between clinical tremor syndromes, apart from rubral and enhanced physiological tremor. Advanced signal analyses were best suited for essential, parkinsonian and functional tremor, and cortical, non-cortical and functional jerks. Combinations of electrodiagnostic features could identify essential, enhanced physiological and functional tremor. CONCLUSION: Studies into the diagnostic accuracy of electrophysiological examinations to differentiate between hyperkinetic movement disorders have predominantly been focused on clinical tremor syndromes. No single feature can differentiate between them all; however, a combination of analyses might improve diagnostic accuracy.
Subject(s)
Accelerometry , Electromyography , Hyperkinesis/diagnosis , Movement Disorders/diagnosis , Neurophysiology/methods , Cross-Sectional Studies , Diagnosis, Differential , Dystonia/diagnosis , Humans , Myoclonus/diagnosis , Tics/diagnosis , Tremor/diagnosisABSTRACT
The Psychiatric Consultation Service at Massachusetts General Hospital sees medical and surgical inpatients with comorbid psychiatric symptoms and conditions. During their twice-weekly rounds, Dr Stern and other members of the Consultation Service discuss diagnosis and management of hospitalized patients with complex medical or surgical problems who also demonstrate psychiatric symptoms or conditions. These discussions have given rise to rounds reports that will prove useful for clinicians practicing at the interface of medicine and psychiatry.
Subject(s)
Mental Disorders , Psychiatry , Child , Diagnosis, Differential , Hospitals, General , Humans , Hyperkinesis/diagnosis , Hyperkinesis/therapy , Mental Disorders/diagnosis , Mental Disorders/therapy , Referral and ConsultationABSTRACT
Research on the quantification of hyperactivity in youth with attention-deficit/hyperactivity disorder (ADHD) has been limited and inconsistent. The purpose of this study was to test the discriminative value of impulse-radio ultra-wideband (IR-UWB) radar for monitoring hyperactive individuals with ADHD and healthy controls (HCs). A total of 10 ADHD patients and 15 HCs underwent hyperactivity assessment using IR-UWB radar during a 22-min continuous performance test. We applied functional ANOVA to compare the mean functions of activity level between the 2 groups. We found that the mean function of activity over time was significantly different and that the activity level of the ADHD group slightly increased over time with high dispersion after approximately 7 min, which means that the difference in activity level between the two groups became evident at this period. Further studies with larger sample sizes and longer test times are warranted to investigate the effect of age, sex, and ADHD subtype on activity level function.
Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Hyperkinesis/diagnosis , Attention Deficit Disorder with Hyperactivity/physiopathology , Child , Female , Humans , Hyperkinesis/physiopathology , Male , Symptom AssessmentABSTRACT
OBJECTIVES: Diagnosis of hyperkinetic movement disorders with an unknown cause is usually challenging. The objective of this study is to learn about video electroencephalogram (VEEG) combined with electromyography (EMG) in the diagnosis of hyperkinetic movement disorders with an unknown cause. METHODS: We performed an observational cohort study by recruiting consecutive patients with hyperkinetic movements as the main manifestation with an unknown cause for VEEG combined with EMG evaluations. RESULTS: A total of 77 consecutive patients were enrolled for VEEG-EMG examination. Among them, 57 patients changed their diagnosis after VEEG-EMG assessment, with a mean final diagnosis age of 35.4 ± 20.3 years (range, 4-74 years). The mean duration between initial and final diagnosis was 54.8 ± 71.3 months (range 0.5-300 months). The most common misdiagnosed hyperkinetic movement disorders were myoclonus (40.4%), followed by tremors (24.6%), dystonia (15.8%), psychogenic movement disorders (10.5%), and periodic leg movement syndrome (PLMS) (7.0%). Outcomes of therapy were significantly improved after VEEG-EMG examination (p = 0.000). CONCLUSIONS: Simultaneous VEEG and EMG are important in the diagnosis of hyperkinetic movement disorders with an unknown cause.
Subject(s)
Movement Disorders , Myoclonus , Adolescent , Adult , Aged , Child , Child, Preschool , Electroencephalography , Electromyography , Humans , Hyperkinesis/diagnosis , Middle Aged , Movement Disorders/diagnosis , Myoclonus/diagnosis , Young AdultABSTRACT
In Parkinson's disease (PD), abnormal movements consisting of hypokinetic and hyperkinetic manifestations commonly lead to nocturnal distress and sleep impairment, which significantly impact quality of life. In PD patients, these nocturnal disturbances can reflect disease-related complications (e.g., nocturnal akinesia), primary sleep disorders (e.g., rapid eye movement behaviour disorder), or both, thus requiring different therapeutic approaches. Wearable technologies based on actigraphy and innovative sensors have been proposed as feasible solutions to identify and monitor the various types of abnormal nocturnal movements in PD. This narrative review addresses the topic of abnormal nocturnal movements in PD and discusses how wearable technologies could help identify and assess these disturbances. We first examine the pathophysiology of abnormal nocturnal movements and the main clinical and instrumental tools for the evaluation of these disturbances in PD. We then report and discuss findings from previous studies assessing nocturnal movements in PD using actigraphy and innovative wearable sensors. Finally, we discuss clinical and technical prospects supporting the use of wearable technologies for the evaluation of nocturnal movements.
Subject(s)
Movement , Parkinson Disease , Wearable Electronic Devices , Actigraphy , Humans , Hyperkinesis/diagnosis , Hypokinesia/diagnosis , Parkinson Disease/complications , Parkinson Disease/diagnosis , Quality of Life , Sleep , Sleep Wake Disorders/etiologyABSTRACT
Hyperactivity is a core ADHD symptom that has been both positively and negatively associated with cognition and functional outcomes. The reason for these conflicting findings is unclear but may relate to subjective assessments that conflate excess physical movement (hyperactivity) with verbally intrusive/impulsive behaviors. The current study adopted a model-driven, rational-empirical approach to distinguish excess physical movement symptoms from other, auditorily perceived behaviors assessed under the "hyperactivity/impulsivity" umbrella. We then tested this alternative conceptualization's fit, reliability, replicability, convergent/divergent validity via actigraphy, and generalizability across informants (parents, teachers) in a well-characterized, clinically evaluated sample of 132 children ages 8-13 years (M = 10.34, SD = 1.51; 47 girls; 67% White/non-Hispanic). The current DSM hyperactivity/impulsivity item pool can be reliably reclassified by knowledgeable judges into items reflecting excess physical movement (visual hyperactivity) and auditory interruptions (verbal intrusion). This bifactor structure showed evidence for multidimensionality and superior model fit relative to traditional hyperactivity/impulsivity models. The resultant visual hyperactivity factor was reliable, replicable, and showed strong convergent validity evidence via associations with objectively assessed hyperactivity. The verbal intrusion factor also showed evidence for reliability and explained a substantive portion of reliable variance, but demonstrated lower estimated replicability. These findings provide preliminary support for conceptualizing ADHD symptoms from the perspective of their cognitive-perceptual impact on others, as well as differentiating excess physical movement (hyperactivity) from other behaviors assessed under the hyperactivity/impulsivity umbrella. "Verbal intrusion" appears to provide a better explanation than "impulsivity" for the reliable, non-hyperactivity variance assessed by these items, but the current item set appears insufficient for replicable measurement of this construct. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Hyperkinesis/diagnosis , Impulsive Behavior , Perception , Psychiatric Status Rating Scales , Psychomotor Agitation/diagnosis , Actigraphy , Adolescent , Attention Deficit Disorder with Hyperactivity/psychology , Child , Cognition , Factor Analysis, Statistical , Female , Humans , Hyperkinesis/etiology , Hyperkinesis/psychology , Male , Psychomotor Agitation/etiology , Psychomotor Agitation/psychology , Reproducibility of ResultsSubject(s)
Circadian Rhythm/physiology , Dystonia/complications , Dystonia/diagnosis , Hyperkinesis/diagnosis , Hyperkinesis/etiology , Metabolism, Inborn Errors/complications , Metabolism, Inborn Errors/diagnosis , Psychomotor Disorders/complications , Psychomotor Disorders/diagnosis , Adult , Dystonia/physiopathology , Humans , Hyperkinesis/physiopathology , Male , Metabolism, Inborn Errors/physiopathology , Psychomotor Disorders/physiopathologyABSTRACT
OBJECTIVE: Hyperkinetic epileptic seizures (HKS) are difficult to characterize and localize according to semiologic features. We propose a multicriteria scale to help visual analysis and report results of cerebral localization. METHODS: We assessed seizures from 37 patients with HKS, explored with stereoelectroencephalography during presurgical evaluation. We used a multicriteria scale (hyperkinetic seizure scale [HSS]) with 10 semiologic features, scored independently by two neurologists. The item scores were used to group seizures using the k-means method. Semiologic features were correlated with the seizure onset zone (SOZ) localization (temporal, prefrontal dorsolateral, prefrontal ventromesial, parietal, insular). RESULTS: Fifty-five seizures were analyzed, and each item of the HSS was compared between the two examiners with good interrater agreement (85.3%). Dystonia, integrated behavior, and bilateral or unilateral hyperkinetic movements were statistically significant according to localization. Three clusters were identified according to the HSS and correlated with different patterns of anatomic localization of SOZ. Cluster 1 was characterized clinically by asymmetric hyperkinetic movements associated with marked dystonia and vocalization. It mainly included parietal seizures. Cluster 2 was characterized by bilateral and symmetrical stereotyped hyperkinetic movements without dystonia. It represented half of temporal seizures and one-third of prefrontal seizures (dorsolateral). Cluster 3 was characterized by seizures with strong emotionality and vocalization with bilateral and symmetrical hyperkinetic movements and integrated behavior. It involved half of temporal seizures and a majority of prefrontal (ventromesial) seizures. SIGNIFICANCE: We propose a first attempt to quantify clinical patterns of HKS. The HSS may help to predict SOZ localization according to three main groups of hyperkinetic seizures.
Subject(s)
Brain/physiopathology , Hyperkinesis/diagnosis , Seizures/diagnosis , Adolescent , Adult , Brain/diagnostic imaging , Child , Electroencephalography , Female , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/physiopathology , Magnetic Resonance Imaging , Male , Middle Aged , Neuroimaging , Seizures/diagnostic imaging , Seizures/physiopathology , Severity of Illness Index , Young AdultABSTRACT
Telemedicine is the use of electronic communication technology to facilitate healthcare between distant providers and patients. In addition to synchronous video conferencing, asynchronous video transfer has been used to support care for neurology patients. There is a growing literature on using telemedicine in movement disorders, with the most common focus on Parkinson's disease. There is accumulating evidence for videoconferencing to diagnose and treat patients with hyperkinetic movement disorders and to support providers in remote underserviced areas. Cognitive testing has been shown to be feasible remotely. Genetic counseling and other counseling-based therapeutic interventions have also successfully performed in hyperkinetic movement disorders. We use a problem-based approach to review the current evidence for the use of telemedicine in various hyperkinetic movement disorders. This Viewpoint attempts to identify possible telemedicine solutions as well as discussing unmet needs and future directions.
Subject(s)
Movement Disorders/diagnosis , Movement Disorders/therapy , Telemedicine/methods , Videoconferencing , Dystonic Disorders/diagnosis , Dystonic Disorders/therapy , Genetic Counseling , Humans , Huntington Disease/diagnosis , Huntington Disease/therapy , Hyperkinesis/diagnosis , Hyperkinesis/therapy , Medically Underserved Area , Myoclonus/diagnosis , Myoclonus/therapy , Neuropsychological Tests , Parkinson Disease/diagnosis , Parkinson Disease/therapy , Remote Consultation/methods , Tic Disorders/diagnosis , Tic Disorders/therapy , Tremor/diagnosis , Tremor/therapyABSTRACT
Background: Progressive supranuclear palsy (PSP) is a progressive neurodegenerative brain disease which has been rarely described in association with hyperkinetic symptoms. Here, we report a case of PSP that was presented with hyperkinetic movement disorder, hemiplegic dystonia, and other clinical features that overlap with behavioral variant frontotemporal dementia (bvFTD) and corticobasal syndrome (CBS).Case presentation: A 63-year-old female presented to our hospital with a history of frontal lobe symptoms, impaired cognition, hyperkinetic movement disorders, dystonia, and frequent falls. Her magnetic resonance imaging (MRI) scan showed atrophy of midbrain and right temporal lobe. [18F]FDG PET result revealed reduced 18F-FDG uptake with obvious laterality (right > left). [18F]THK5317 PET scan showed evident increased uptake in the brain stem and basal ganglia. Treatment with Tiapride significantly improved hyperkinetic symptoms, but other motor symptoms were not alleviated. Three years later, the patient could hardly walk even with assistance.Conclusion: PSP can present hyperkinetic movement disorders and asymmetry in image that widen the existing phenotypic spectrum.
Subject(s)
Dystonia/etiology , Hemiplegia/etiology , Hyperkinesis/etiology , Supranuclear Palsy, Progressive/complications , Supranuclear Palsy, Progressive/diagnosis , Dystonia/diagnosis , Dystonia/physiopathology , Female , Hemiplegia/diagnosis , Hemiplegia/physiopathology , Humans , Hyperkinesis/diagnosis , Hyperkinesis/physiopathology , Magnetic Resonance Imaging , Middle Aged , Positron-Emission Tomography , Supranuclear Palsy, Progressive/pathology , Supranuclear Palsy, Progressive/physiopathologyABSTRACT
INTRODUCTION: Clinical neurophysiology constitutes a potentially useful aid in differentiating hyperkinetic movement disorders (HMD). Parameters including presence of a Bereitschaftspotential on back-averaged electroencephalography (EEG) have been demonstrated to help distinguish between these disorders. In 2008, a Movement Disorder neurophysiology service was established in Greater Manchester to aid in the diagnostic process. METHODS: We retrospectively reviewed records of patients with HMD who underwent EEG back-averaging through this service from January 2009 until January 2018. The aim was (i) to characterise the clinical features of our patient cohort and (ii) to determine how frequently neurophysiological testing altered the final diagnosis. RESULTS: A total of 39 patients (23 females, 16 males), with a mean age at onset of 42.6 years and mean disease duration of 2.0 years underwent neurophysiological examination. The clinical diagnosis was changed in 16 cases (41%) and refined in a further seven. Distractibility (P = 0.001), variability (P = 0.002), the presence of a Bereitschaftspotential (P < 0.0001), and electromyography burst duration > 300 ms (P = 0.012) were more frequent in those with an eventual diagnosis of functional movement disorder (n = 24) compared to other HMDs (n = 15). CONCLUSION: Neurophysiology is an invaluable adjunct in complex HMD, altering the diagnosis and treatment options for a significant proportion of patients. Our data also demonstrate, consistent with previous studies, that the majority of patients referred for jerky HMDs to a tertiary movement disorder service have a functional movement disorder.
Subject(s)
Contingent Negative Variation , Hyperkinesis/diagnosis , Movement Disorders/diagnosis , Neurophysiology/methods , Adolescent , Adult , Aged , Child , Child, Preschool , Contingent Negative Variation/physiology , Diagnosis, Differential , Electroencephalography , Female , Humans , Hyperkinesis/physiopathology , Male , Middle Aged , Movement Disorders/physiopathology , Referral and Consultation , Retrospective Studies , Young AdultSubject(s)
Chromosomes, Human, Pair 2/genetics , Developmental Disabilities/diagnosis , Epilepsies, Myoclonic/diagnosis , Hyperkinesis/diagnosis , Sodium Channels/genetics , Developmental Disabilities/etiology , Developmental Disabilities/genetics , Epilepsies, Myoclonic/complications , Epilepsies, Myoclonic/genetics , Gene Deletion , Humans , Hyperkinesis/etiology , Hyperkinesis/genetics , Infant , MaleSubject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Auditory Perceptual Disorders/psychology , Hyperkinesis/psychology , Adolescent , Attention Deficit Disorder with Hyperactivity/psychology , Auditory Perceptual Disorders/diagnosis , Child , Comorbidity , Diagnosis, Differential , Diagnostic and Statistical Manual of Mental Disorders , Genome-Wide Association Study/methods , Humans , Hyperkinesis/diagnosis , Impulsive Behavior/physiology , Neuroimaging/methods , PhenotypeABSTRACT
Diagnostic guidelines differ between DSM attention-deficit/hyperactivity disorder (ADHD) and ICD hyperkinetic disorder (HKD). Only 145 of 579 children age 7-9 in the Multimodal Treatment Study of ADHD (the MTA) with combined-type DSM-IV ADHD met criteria for ICD-10 HKD, because major internalizing comorbidities and more stringent symptom count/pervasiveness requirements excluded most. The 145 HKD had significantly better 14-month medication response than the rest. We explored whether HKD had greater adult symptom persistence and/or impairment than other ADHD. Multi-informant assessments were done for 16 years. We used the 12/14/16-year assessments, in young adulthood. The post-attrition 109 with baseline HKD had no greater adult persistence of ADHD symptoms/impairment than 367 without HKD, but had more cumulative stimulant use, more job losses, lower emotional lability, and fewer car crashes. However, those excluded for internalizing comorbidity but otherwise meeting HKD criteria had significantly more persistence. Only 6 of the 109 (5.5%) with baseline HKD met ICD-10 criteria for HKD in adulthood, compared to 25 of 367 (6.8%) without a childhood HKD diagnosis. Despite greater initial symptom severity, HKD had no worse 16-year young adult outcome than others, except for job losses, balanced by less emotional lability and fewer crashes. Comorbid internalizing disorder seems to have worse prognosis than initial severity/pervasiveness of ADHD symptoms.