Movement Disorders In Children Research Articles

Inter-rater Agreement for Movement Disorder Classification in Children with Hyperkinetic Movement Disorders.

Accurate classification is essential for addressing childhood movement disorders (MD), but the common coexistence of multiple MDs complicates this process. The aim was to assess inter-rater agreement on classifying hyperkinetic MDs among pediatric neurologists with expertise in MDs. Five pediatric neurologists were requested to examine 112 videos of 66 pediatric patients. Based on the Movement Disorder-Childhood Rating Scale, 3 queries were posed: (Q1) Is there more than 1 MD? (Q2) What is the (predominant) MD? (Q3) What is the other MD (if present)? The final agreement rates were 57.5% for Q1, 66.6% for Q2, and 43.9% for absolute agreement. All videos with absolute agreement at the first evaluation featured 1 MD, whereas only 2 videos with multiple MDs could totally agree in the final review. This study reveals significant discordance in classification even among pediatric neurologists with expertise in MDs and highlights the necessity for a standardized approach.

Recognizing red flags for alternative diagnoses in pediatric chorea beyond Sydenham's

BackgroundChorea is a common movement disorder in children, requiring thorough clinical assessment and appropriate tests for etiological diagnosis. Early identification of treatable conditions can lead to effective treatment, reducing morbidity and improving quality of life. ObjectiveTo describe the clinical, demographic, and epidemiological characteristics of children and adolescents diagnosed with chorea. MethodsA retrospective cross-sectional study of pediatric patients treated in a fourth-level hospital in Bogotá, Colombia, from January 2008 to January 2022. Results81 patients with chorea were found. The most frequent etiologies were rheumatic fever (50.6 %), vascular chorea (29.3 %), and chorea secondary to lupus (11.1 %). Patients with chorea secondary to rheumatic fever (Sydenham's chorea) were older compared to other etiologies, 10.36 ± 3.41 years vs 8.29 ± 5.16, p = 0.037. The presence of another movement disorder or abnormalities during the physical examination suggests a different etiology from rheumatic fever. Moreover, the presence of psychiatric symptoms was similar in all etiologies. However, a correlation between age and psychiatric symptoms was observed with an odds ratio of 1.14 95 % CI 1.02–1.29 per year. ConclusionsRed flags in Sydenham's chorea suggesting an alternate etiology are younger age, the presence of other abnormal movements or other findings in the neurological exam or in the magnetic resonance imaging. No significant statistical differences were found between the etiologies with the presence of neuro-psychiatric manifestations. Nevertheless, these manifestations are very frequent in abnormal movements. This study evidenced the positive correlation between age and the presence of psychiatric symptoms.

Neuromuscular impairments of cerebral palsy: contributions to gait abnormalities and implications for treatment.

Identification of neuromuscular impairments in cerebral palsy (CP) is essential to providing effective treatment. However, clinical recognition of neuromuscular impairments in CP and their contribution to gait abnormalities is limited, resulting in suboptimal treatment outcomes. While CP is the most common childhood movement disorder, clinical evaluations often do not accurately identify and delineate the primary neuromuscular and secondary musculoskeletal impairments or their specific impact on mobility. Here we discuss the primary neuromuscular impairments of CP that arise from early brain injury and the progressive secondary musculoskeletal impairments, with a focus on spastic CP, the most common form of CP. Spastic CP is characterized by four primary interrelated neuromuscular impairments: 1. muscle weakness, 2. short muscle-tendon units due to slow muscle growth relative to skeletal growth, 3. muscle spasticity characterized by increased sensitivity to stretch, and 4. impaired selective motor control including flexor and extensor muscle synergies. Specific gait events are affected by the four primary neuromuscular impairments of spastic CP and their delineation can improve evaluation to guide targeted treatment, prevent deformities and improve mobility. Emerging information on neural correlates of neuromuscular impairments in CP provides the clinician with a more complete context with which to evaluate and develop effective treatment plans. Specifically, addressing the primary neuromuscular impairments and reducing secondary musculoskeletal impairments are important treatment goals. This perspective on neuromuscular mechanisms underlying gait abnormalities in spastic CP aims to inform clinical evaluation of CP, focus treatment more strategically, and guide research priorities to provide targeted treatments for CP.

Content and readability of patient educational materials about neuromodulation for childhood movement disorders

Purpose To assess content and readability of online patient educational materials (PEMs) for paediatric deep brain stimulation (DBS) and intrathecal baclofen (ITB). Methods A content analysis of PEMs identified from top children’s hospitals, institutions affiliated with published neuromodulation research, and DBS and ITB device manufacturers was conducted. PEM content was analysed using a predetermined framework. Readability was assessed using the Simple Measure of Gobbledygook (SMOG). Results Of 109 PEMs (72 DBS; 37 ITB) identified, most (77 (71%)) originated in the United States. More ITB PEMs (27 (73%)) contained specific paediatric information than DBS PEMs (16 (22%)). PEMS more frequently described benefits (DBS: 92%; ITB: 89%) than risks (DBS: 49%; ITB: 78%). Frequent content included pre- and post-operative care, procedural details, and device information. Less common content included long-term lifestyle considerations, alternatives, patient experiences, and financial details. Median readability of PEMs was 13.2 (interquartile range [IQR]: 11.4–14.45) for DBS and 11.8 (IQR: 11–12.9) for ITB. Conclusions Available ITB and DBS PEMs often miss important broader details of the treatments, and have additional shortcomings such as poor readability scores. Our findings highlight need for more holistic content within neuromodulation PEMs, improved accessibility, and more balanced representation of risks and benefits.

WITHDRAWN: Understanding the scale of the problem: How to standardise the measurement of childhood movement disorders?

The Publisher regrets that this article is an accidental duplication of an article that has already been published in < European Journal of Paediatric Neurology, 53C (2024) 3209, http://10.1016/j.ejpn.2024.08.009 > . The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/policies/article-withdrawal.

Response to iron supplementation is similar between boys and girls with pediatric sleep movement disorders

ObjectivesThis study aims to investigate sex differences in response to iron supplementation in children and adolescents suffering from sleep-related movement disorders such as Restless Legs Syndrome (RLS), Periodic Limb Movement Disorder (PLMD), and Restless Sleep Disorder (RSD). MethodsData were retrieved and reanalyzed from previous studies involving children with RLS, PLMD, or RSD. The analysis included 54 patients treated with intravenous (IV) ferric carboxymaltose (FCM) and 31 patients treated with oral ferrous sulfate (FS). Demographic, biological, and clinical parameters were compared between sexes. Clinical outcomes were measured using the Clinical Global Impression rating scales for severity (CGI-S) and improvement (CGI-I). ResultsIn the group treated with IV FCM, no significant differences were found between males and females in demographic (age), biological (ferritin, iron, total iron-binding capacity, transferrin), or clinical parameters (CGI-S and CGI-I). However, among adolescents, females showed significantly better clinical improvement (CGI-I) compared to males (t-value 2.428, p < 0.024). In the group treated with oral FS, no significant sex differences were observed in any parameters. Side effects were reported by a small number of patients, with no significant difference between sexes. ConclusionThe findings indicate no major significant sex-based differences in response to iron supplementation for treating sleep-related movement disorders in children and adolescents, despite distinct hormonal and physiological differences in iron metabolism. Both boys and girls benefit similarly from iron treatment during this developmental stage, suggesting that a standardized approach to iron supplementation may be effective. However, individual assessment and monitoring remain crucial to ensure optimal outcomes.

Prevalence and associated factors of developmental coordination disorder in primary school children.

Developmental coordination disorder (DCD) is one of the most frequently observed movement disorders in childhood, yet data on its prevalence are still unclear. This two-stage epidemiological study aims to determine the prevalence of DCD in children between 6 and 10 years of age according to the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5). In the first stage, the Developmental Coordination Disorder Questionnaire (DCDQ'07) were given to primary school students. In the second stage, clinicians conducted psychiatric interviews with children who had an indication of DCD or were suspected of having DCD according to the DCDQ'07 and their parents. The interviews utilized the DSM-5 diagnostic criteria for DCD and applied the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version-Turkish Adaptation (K-SADS-PL) and Wechsler Intelligence Scale for Children (WISC-R) to identify co-occurring disorders. In the first stage, 2,306 children were evaluated, and 205 were invited for a clinical interview. Of the 198 children interviewed, 49 met the diagnostic criteria for DCD. The prevalence of DCD in Türkiye was found to be 2.1%. High parental education level, a previous psychiatric admission of the child, mother's postpartum depressive symptoms, co-occurring disorders, and co-occurring attention deficit hyperactivity disorder (ADHD) were significantly more common among children with DCD. Potentially associated factors were evaluated by logistic regression analysis. The mother's education level, the presence of postpartum depressive symptoms, and co-occurring disorders in the child were found to be associated factors.

A Novel Video-Based Methodology for Automated Classification of Dystonia and Choreoathetosis in Dyskinetic Cerebral Palsy During a Lower Extremity Task.

Movement disorders in children and adolescents with dyskinetic cerebral palsy (CP) are commonly assessed from video recordings, however scoring is time-consuming and expert knowledge is required for an appropriate assessment. To explore a machine learning approach for automated classification of amplitude and duration of distal leg dystonia and choreoathetosis within short video sequences. Available videos of a heel-toe tapping task were preprocessed to optimize key point extraction using markerless motion analysis. Postprocessed key point data were passed to a time series classification ensemble algorithm to classify dystonia and choreoathetosis duration and amplitude classes (scores 0, 1, 2, 3, and 4), respectively. As ground truth clinical scoring of dystonia and choreoathetosis by the Dyskinesia Impairment Scale was used. Multiclass performance metrics as well as metrics for summarized scores: absence (score 0) and presence (score 1-4) were determined. Thirty-three participants were included: 29 with dyskinetic CP and 4 typically developing, age 14 years:6 months ± 5 years:15 months. The multiclass accuracy results for dystonia were 77% for duration and 68% for amplitude; for choreoathetosis 30% for duration and 38% for amplitude. The metrics for score 0 versus score 1 to 4 revealed an accuracy of 81% for dystonia duration, 77% for dystonia amplitude, 53% for choreoathetosis duration and amplitude. This methodology study yielded encouraging results in distinguishing between presence and absence of dystonia, but not for choreoathetosis. A larger dataset is required for models to accurately represent distinct classes/scores. This study presents a novel methodology of automated assessment of movement disorders solely from video data.

P.038 Exploring alternative deep brain stimulation targets for movement disorder in children – a systematic literature review

Background: Deep Brain Stimulation (DBS) has become increasingly prevalent in the management of paediatric movement disorders, with the globus pallidus interna (GPi) serving as the most utilized target. However, limitations exist, including variable responses in genetic versus acquired forms of movement disorder and structural damage in the GPi would preclude its use as a target. Given these limitations, there is a pressing need to explore alternative targets. We investigated the application of non-GPi targets in paediatrics through a systematic review. Methods: Individual data points were gathered from references identified through a systematic electronic search and analysed descriptively. We included paediatric patients (0-18 years) with movement disorders who underwent non-GPi-DBS. We excluded adults and other indications. Results: Preliminarily, 64 patients were identified from 40 references. Dystonia was the most common movement disorder type, followed by tremor and chorea. The subthalamic nucleus was the frequent DBS target for dystonia, yielding promising outcomes of improvement as measured on the Burke-Fahn-Marsden movement scale ranging from 43% to 95%. The ventral intermediate nucleus was the second most employed target, demonstrating favourable results. Conclusions: Non-pallidal DBS targets hold promise as potentially efficient and safe. However, to further validate their effectiveness and safety, larger multi-centre randomized studies are required.

Protocol for combined N-of-1 trials to assess cerebellar neurostimulation for movement disorders in children and young adults with dyskinetic cerebral palsy.

Movement and tone disorders in children and young adults with cerebral palsy are a great source of disability. Deep brain stimulation (DBS) of basal ganglia targets has a major role in the treatment of isolated dystonias, but its efficacy in dyskinetic cerebral palsy (DCP) is lower, due to structural basal ganglia and thalamic damage and lack of improvement of comorbid choreoathetosis and spasticity. The cerebellum is an attractive target for DBS in DCP since it is frequently spared from hypoxic ischemic damage, it has a significant role in dystonia network models, and small studies have shown promise of dentate stimulation in improving CP-related movement and tone disorders. Ten children and young adults with DCP and disabling movement disorders with or without spasticity will undergo bilateral DBS in the dorsal dentate nucleus, with the most distal contact ending in the superior cerebellar peduncle. We will implant Medtronic Percept, a bidirectional neurostimulator that can sense and store brain activity and deliver DBS therapy. The efficacy of cerebellar DBS in improving quality of life and motor outcomes will be tested by a series of N-of-1 clinical trials. Each N-of-1 trial will consist of three blocks, each consisting of one month of effective stimulation and one month of sham stimulation in a random order with weekly motor and quality of life scales as primary and secondary outcomes. In addition, we will characterize abnormal patterns of cerebellar oscillatory activity measured by local field potentials from the intracranial electrodes related to clinical assessments and wearable monitors. Pre- and 12-month postoperative volumetric structural and functional MRI and diffusion tensor imaging will be used to identify candidate imaging markers of baseline disease severity and response to DBS. Our goal is to test a cerebellar neuromodulation therapy that produces meaningful changes in function and well-being for people with CP, obtain a mechanistic understanding of the underlying brain network disorder, and identify physiological and imaging-based predictors of outcomes useful in planning further studies. ClinicalTrials.gov NCT06122675, first registered November 7, 2023.

3D gait analysis in children using wearable sensors: feasibility of predicting joint kinematics and kinetics with personalized machine learning models and inertial measurement units.

Introduction: Children's walking patterns evolve with age, exhibiting less repetitiveness at a young age and more variability than adults. Three-dimensional gait analysis (3DGA) is crucial for understanding and treating lower limb movement disorders in children, traditionally performed using Optical Motion Capture (OMC). Inertial Measurement Units (IMUs) offer a cost-effective alternative to OMC, although challenges like drift errors persist. Machine learning (ML) models can mitigate these issues in adults, prompting an investigation into their applicability to a heterogeneous pediatric population. This study aimed at 1) quantifying personalized and generalized ML models' performance for predicting gait time series in typically developed (TD) children using IMUs data, 2) Comparing random forest (RF) and convolutional neural networks (CNN) models' performance, 3) Finding the optimal number of IMUs required for accurate predictions. Methodology: Seventeen TD children, aged 6 to 15, participated in data collection involving OMC, force plates, and IMU sensors. Joint kinematics and kinetics (targets) were computed from OMC and force plates' data using OpenSim. Tsfresh, a Python package, extracted features from raw IMU data. Each target's ten most important features were input in the development of personalized and generalized RF and CNN models. This procedure was initially conducted with 7 IMUs placed on all lower limb segments and then performed using only two IMUs on the feet. Results: Findings suggested that the RF and CNN models demonstrated comparable performance. RF predicted joint kinematics with a 9.5% and 19.9% NRMSE for personalized and generalized models, respectively, and joint kinetics with an NRMSE of 10.7% for personalized and 15.2% for generalized models in TD children. Personalized models provided accurate estimations from IMU data in children, while generalized models lacked accuracy due to the limited dataset. Furthermore, reducing the number of IMUs from 7 to 2 did not affect the results, and the performance remained consistent. Discussion: This study proposed a promising personalized approach for gait time series prediction in children, involving an RF model and two IMUs on the feet.

A Review of Normal and Abnormal Sleep Related Movement Disorder during Life Span

The state of normal sleep is characterized by diminished responsiveness to external stimuli and a familiar feeling of delight and refreshment. This feeling is accompanied by muscle relaxation and slowing of brain activity. Nevertheless, body movements are a feature of normal sleep and when those impair sleep quality and consequent daytime function they are defined as abnormal. The introduction of polysomnography during which muscle activity is monitored by electromyography and videotaping enabled sleep researches to precisely assess the characteristics of normal and abnormal movements, to determine their appearance is at specific sleep stages and to define their severity in regard to sleep quality and their impact on daytime function. Indeed, abnormal movements during sleep became an essential part of the symptomatology of a number of neurodegenerative disorders. Normal and abnormal movement disorder related to sleep onset, particular sleep stages and during awakening from sleep will be described in some detail. Common and rare forms of sleep related movement disorders in children and adults will be reviewed.

靳三针结合康复训练治疗脑瘫患儿 运动障碍的临床研究

靳三针结合康复训练治疗脑瘫患儿 运动障碍的临床研究

Whole Genome Expression Profiling of Semitendinosus Tendons from Children with Diplegic and Tetraplegic Cerebral Palsy.

Cerebral palsy (CP) is the most common movement disorder in children, with a prevalence ranging from 1.5 to 4 per 1000 live births. CP is caused by a non-progressive lesion of the developing brain, leading to progressive alterations of the musculoskeletal system, including spasticity, often leading to the development of fixed contractures, necessitating tendon lengthening surgery. Total RNA-sequencing analysis was performed on semitendinosus tendons from diplegic and tetraplegic CP patients subjected to tendon lengthening surgery compared to control patients undergoing anterior cruciate ligament reconstructive surgery. Tetraplegic CP patients showed increased expression of genes implicated in collagen synthesis and extracellular matrix (ECM) turnover, while only minor changes were observed in diplegic CP patients. In addition, tendons from tetraplegic CP patients showed an enrichment for upregulated genes involved in vesicle-mediated transport and downregulated genes involved in cytokine and apoptotic signaling. Overall, our results indicate increased ECM turnover with increased net synthesis of collagen in tetraplegic CP patients without activation of inflammatory and apoptotic pathways, similar to observations in athletes where ECM remodeling results in increased tendon stiffness and tensile strength. Nevertheless, the resulting increased tendon stiffness is an important issue in clinical practice, where surgery is often required to restore joint mobility.

Long Lead of a Bobble-Head Doll Syndrome

Abstract Bobble-head doll syndrome is a rare and interesting childhood movement disorder, which often presents with involuntary, repetitive, stereotyped head movements, though other presentations such as neuroendocrine disturbances, visual and gait disturbances, and memory and psychiatric disturbances are also described. Imaging reveals hydrocephalus. If the cause can be identified and resolved using surgery, it is one of the treatable movement disorders of childhood.

Analysis of movement disorders in paediatric and adolescent rheumatology

Rheumatic diseases in childhood and adolescence like juvenile idiopathic arthritis can cause movement disorders due to pain, swelling and limited range of motion. This article describes different possibilities and results of movement analysis for rheumatic diseases. The influence of JIA on specific movements in individual joints and complex movements such as gait is examined. The results of gait analyses show agreat influence of the disease on spatiotemporal parameters such as gait speed, cadence and stride length, on joint angles during walking and on torques and forces. Furthermore, the importance of gait analysis for estimating the efficacy of interventions like intra-articular steroids is described. This article provides asummary of current studies on the effects of rheumatic diseases on movement disorders in children and adolescents, as well as an outlook on the increasing importance of movement analysis for therapy monitoring and optimisation.

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.

Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the SLC6A3 gene. Advances in genomic analysis have revealed an evolving spectrum of SLC6A3-related neurological and neuropsychiatric disorders. Since the initial clinical and genetic characterisation of DTDS in 2009, there have been thirty-one published cases with a variety of protein-truncating variants (nonsense variants, splice-site changes, and deletions) and missense changes. Amino acid substitutions result in mutant proteins with impaired dopamine transporter function due to reduced transporter activity, impaired dopamine binding, reduced cell-surface expression, and aberrant posttranslational protein modification with impaired glycosylation. In this review, we provide an overview of the expanding clinical phenotype of DTDS and the precision therapies in development, including pharmacochaperones and gene therapy.

0705 Restless sleep disorder and periodic limb movement disorder in children with history of prematurity

Abstract Introduction Children with history of prematurity are at higher risk of complications, comorbidities and iron deficiency, including restless legs syndrome and periodic limb movements of sleep (PLMS). In this study we assess the prevalence of restless sleep disorder and PLMS in children with history of prematurity. Methods Retrospective chart review of sleep studies in children aged 1-18 years, with history of prematurity, from July 2021 to July 2022 at Seattle Children's Hospital. Only diagnostic studies in children without diagnosis of a genetic syndrome or airway surgery were included. Results During the study, 2,577 sleep studies were conducted, 162 were in children with history of prematurity (6%): 25 were split or titration studies (14%), 29 children had syndromes (Down, Prader Willi, Wiedmann Beckmann, Achondroplasia), 4 tracheostomy studies, 6 in infants aged &amp;lt; 12 months and 6 were post airway intervention. Ninety-two diagnostic studies were included in analysis. Median birth age was 31 weeks, interquartile range (IQR) 27-34 weeks. Thirty-two (34.8%) children were referred for restless sleep and 55 (59.8%) for snoring; 18% had PLMS index &amp;gt;5/hour, 14% fit the criteria for restless sleep disorder (RSD). There were no statistically significant differences in PSG parameters between the children with RSD, PLMS and the remaining group, except for lower obstructive apnea/hypopnea index (Kruskal-Wallis ANOVA 8.621, p=0.0135) in the RSD group (median 0.7, IQR 0.3-0.9) than in the PLMS (median 1.7, IQR 0.7-3.5), or than in the nonRSD/nonPLMS group (median 2.0, IQR 0.8-4.5). Altogether, children with RSD and those with PLMS had restless sleep as an indication for the sleep study in 70% of cases while snoring was the indication in only 26.7% of them. Conclusion We have previously reported that in the Seattle Children's Hospital Sleep Center the prevalence of RSD is 7.7% and that of PLMS is 9.3%; in this new analysis we found a higher frequency of RSD and elevated PLMS in children with history of prematurity. Premature children are higher risk of iron deficiency, among other complications and comorbidities. These new results confirm the previous reports of increased PLMS and add new knowledge on the prevalence of RSD in these children Support (if any)

Sleep-related rhythmic movement disorder in children: a mini-review.

Sleep-related rhythmic movement disorder (SRRMD) occurs in both infants and children. This disorder rarely occurs or persists in adolescence or adulthood. Rhythmic movement during sleep in children is often asymptomatic and considered a benign condition. It is classified as SRRMD when movement significantly disrupts sleep, results in daytime functional impairment, or causes self-inflicted body injury. Several studies have demonstrated that SRRMD occurs in all sleep stages. Few studies have investigated rhythmic movement disorder (RMD) in children. SRRMD is a clinical diagnosis supported by home video recordings. When the clinical history is insufficient to provide a definitive diagnosis of SRRMD, and other sleep-related conditions or seizure disorders are suspected, video-polysomnography is indicated. There are currently no clinical guidelines for treating SRRMD.

A clinical case of a developmental disorder of the nervous system with involuntary movements associated with the spectrum of GNAO1-associated diseases

Nervous Developmental Disorder with Involuntary Movements (NEDIM) (OMIM 617493) is a rare movement disorder in children on the spectrum of GNAO1-associated movement disorders. With NEDIM, movement disorders appear in early childhood, progress and lead to disability. The disease is caused by pathogenic heterozygous variants in the GNAO1 gene and has an autosomal dominant mode of inheritance. The epidemiology of NEDIM has not yet been established. Clinical symptoms are extensive, ranging from severe motor and cognitive impairment with self-injurious behaviour and seizures to a mild phenotype of movement disorders without mental retardation and seizures. Some patients develop epilepsy. Hyperkinetic syndrome in most children is manifested with chorea, athetosis, dystonia, and ballism, affecting the muscles of the body, limbs and face. According to MRI, in some patients, gradually progressive atrophy of the brain substance is visualized. Currently, the disease has no developed pathogenetic methods of therapy. Treatment is symptomatic, including various drug regimens to reduce the severity of movement disorders and seizures. Management of nutrition of the patient and the prevention of secondary complications of movement disorders are also important. In foreign sources there is described the experience of using topiramate and teterabenazine, as well as deep brain stimulation (DBS), which demonstrate a good effect in the form of a significant reduction in the frequency of dystonic storms and the severity of motor disorders. The article presents a clinical case of diagnosis and treatment of a child with this disease, and also current trends in therapy.