Introduction We aimed to establish the clinical characteristics of children and young people (CAYP) currently receiving deep brain stimulation (DBS) therapy for the management of movement disorders in the UK to better inform planning of future service provision. Methods Cross-sectional service evaluation of centres providing DBS for the management of movement disorders in childhood. Results A total of 139 CAYP were identified across three centres. Median age at surgery was 9.8 years (range 2.0-18.9 years), and median duration of DBS was 4.4 years (range from 1 week to 15.75 years). Modal Gross Motor Function Classification System level was V (n=66). The most common causes of movement disorder were dyskinetic cerebral palsy (69/139, 49.6%), dystonia due to mutations in the lysine methyltransferase 2B gene, aka DYT-KMT2B, (13/139, 9.4%) and dystonia due to mutations in the Torsin-1A gene, aka DYT-TOR1A, (9/139, 6.5%). A monogenetic cause of dystonia without evidence of central nervous system pathology on MRI was identified in 30 CAYP (21.6%). Clinically significant dystonia was present in all CAYP, with significant chorea in 47/139 (33.8%) and significant spasticity in only 13/139 (9.4%). No tone-reducing medications were currently used by 43/139 (30.9%) of CAYP. The remaining 96/139 CAYP were currently receiving 1-6 tone-reducing medications, most commonly gabapentin (n=58), clonidine (n=50) and a form of benzodiazepine (n=43). Despite care being provided by paediatric services, 37/139 (26.6%) of CAYP were >18 years of age. Conclusions CAYP currently receiving DBS therapy represent a heterogeneous population in terms of dystonia aetiology, functional level and additional pharmacological management. Only 102 CAYP<18 years of age are currently receiving DBS therapy in the UK, representing a small proportion of the population who could benefit from this intervention.

INTRODUCTION:This study aimed to assess the availability of national transition guidelines in paediatric neurology across Europe and to provide a review of the existing literature. METHODS:A mixed-methods descriptive study was conducted, combining a survey of national representatives of the European Paediatric Neurology Society and a scoping literature review. The survey, performed in 2021 with an update in 2026, assessed the existence of national or officially endorsed transition guidelines. The literature review (2002-2025) followed the Arksey and O'Malley framework and PRISMA-ScR recommendations. RESULTS:Thirty-six of 42 representatives responded to the 2021 survey; 66.7% reported no national transition guidelines in paediatric neurology, while 16.7% reported officially endorsed guidance. The literature search identified 23372 records, of which 132 publications were included in the final analysis. Most described centre-based transition models or general recommendations, while formal guidelines were rare. Drawing on the gaps identified through literature review and survey findings, this paper proposes a series of targeted recommendations to enhance the transition process in paediatric neurology. CONCLUSIONS:Transition guidance in paediatric neurology remains limited and heterogeneous across Europe. Specific recommendations are needed to provide guidance and enhance the effectiveness of this process. An EPNS-EAN Transition Task Force is currently developing a transition framework.

Objectives Clonidine is increasingly used in the management of childhood motor disorders. Reports are limited regarding the use of transdermal clonidine patches (TCPs) for this indication. We aimed to explore the use of TCPs in children and young people (CAYP) across specialist movement disorder services in the UK.Methods A cross-sectional service evaluation of TCP use in CAYP with motor disorders was performed. Where available, historical data on TCP use were also collected.Results Data were available for 259 CAYP from 11 services, with 176/259 (68%) under active follow-up. Median age at starting TCPs was 8.6 years (25th to 75th centile 5.2-12 years). Gross Motor Function Classification System level (or equivalent) was V for 206/253 (81.4%) CAYP. Clinically significant chorea was observed in 33/255 (12.9%), spasticity in 116/254 (45.7%) and dystonia in 234/256 (91.4%) CAYP. The most common reasons for TCP initiation were overall dystonia severity (61/259, 23.6%), concerns about absorption of enteral medication (54/259, 20.8%) and excess sedation with enteral clonidine (46/259, 17.8%). TCP use had been discontinued by 61/259 (23.6%) CAYP, most commonly because of skin rash (24/259, 9.3%). The median time to discontinuing patches was 3.5 months. In addition to TCPs, 148/259 (57.1%) of CAYP continued with enteral clonidine. Additional tone-reducing medication use ranged from 0 to 6 additional medications (modal number of medications 3),Conclusion We present the first UK-based multicentre evaluation of TCP use in CAYP with motor disorders, highlighting the complexity of the medical problems of these CAYP and their clinical management. TCPs appear generally to be tolerated by CAYP, but further work is required to establish their efficacy.

AIM:To examine longitudinal changes in self-selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports. METHOD:The retrospective cohort study included follow-up to 5 years after DBS, with the number of participants varying across time points. In the CYP group, 62 participants were included at the 1-year follow-up, 50 at 2 years, and 17 at 5 years. In the parental and caregiver sample, 146 participants were included at 1 year, 125 at 2 years, and 51 at 5 years. Changes across time were assessed using Wilcoxon signed-rank tests, the Canadian Occupational Performance Measure (COPM), and Burke-Fahn-Marsden Dystonia Rating Scale - motor severity (BFMDRS-m). Analyses were stratified by key characteristics of participants, including sex, age at surgery, Manual Ability Classification System (MACS) level, Gross Motor Function Classification System (GMFCS) level, and aetiology. RESULTS:Median COPM performance increased from 2.8 to 6.1 (baseline to 5 years), while COPM satisfaction improved from 2.6 to 7.6; parent/caregiver reports showed similar trends. BFMDRS-m scores decreased from 81.0 to 70.0, with the largest improvements in the first year. COPM changes were greater in monogenic dystonia and participants classified in MACS levels I to III. BFMDRS-m improvements were more pronounced in monogenic dystonia, participants classified in GMFCS levels I to III, and those aged at least 12 years. INTERPRETATION:DBS showed sustained improvements in motor function and self-selected goals, with consistent findings across CYP and caregiver reports. Functional gains were observed despite limited dystonia reduction, particularly in dystonic cerebral palsy.

Introduction Dystonia is a movement disorder characterised by abnormal movements and/or postures, initiated or worsened by voluntary action. Non-degenerative childhood dystonia is common, represents a substantial source of lifelong disability, and is often associated with other motor and non-motor phenotypes that can contribute to functional impairments. However, there is no consensus on how to measure motor and non-motor outcomes associated with dystonia, nor is there consensus on what outcomes to measure. This prevents adequate evaluation and development of evidence-based interventions and decision-making in clinical practice. Here, we present the protocol for establishing global expert consensus on the Dystonia Impact Core Outcome Set (DI-COS) to describe what dystonia-associated outcomes to measure and how to measure them. Methods and analysis The DI-COS study includes a mixed-methods programme with three phases. Phase 1 includes; (i) scoping review, (ii) qualitative interview study with children and families, and (iii) international survey of health, social care, and education-based professionals. Phase 2 is a three round international e-Delphi study informed by Phase 1, and expert consensus from: (i) a professional panel and (ii) experts with lived experience (parents and children). Content and thematic analysis, and descriptive statistics will be used to analyse qualitative and quantitative data, respectively. Results will be triangulated to inform development of the Delphi survey in Phase 2. Phase 3 will identify the outcome measures available and recommend assessment outcomes agreed as part of Phase 2 Consensus. Ethics and dissemination Ethical approval has been obtained from Camden and King’s Cross Research Ethics Committee (25/LO/0150) and Queen Mary, University of London Research Ethics Committee. All dissemination activities (including papers submitted to peer-reviewed journals, abstracts submitted to national/international conferences, visual outputs and engagement events), will be co-produced, co-designed and co-presented/authored with members of the study’s advisory groups and shared via project’s networks.

OBJECTIVE:GNAO1-related disorder is a severe childhood-onset hyperkinetic movement disorder punctuated by life-threatening dyskinetic crises. Small series suggest benefit from bilateral globus pallidus internus deep brain stimulation (GPi-DBS), but optimal timing, patient selection, long-term outcomes, and genotype-specific response remain unclear. We define the clinical impact of GPi-DBS in the largest cohort assembled to date. METHODS:Retrospective multicenter cohort study conducted through the DBSMatchMaker platform, including children and young adults with genetically confirmed GNAO1-related disorder treated with bilateral GPi-DBS across 17 centers. The primary outcome was change in dyskinetic crisis burden; secondary outcomes included BFMDRS, Clinical Global Impression (CGI), functional classifications, medication burden, and complications. RESULTS:Forty-six patients underwent implantation at a mean age of 10.4 ± 4.8 years with mean follow-up of 4.5 ± 3.7 years (longest = 17 years). Over half (52.2%) were implanted emergently during dyskinetic status. Dyskinetic crises were reduced in 38 of 40 patients (95%) and intensive care unit (ICU) admissions in 86.1%. The Burke Fahn Marsden Dystonia Rating Scale (BFMDRS) motor scores improved by 27.5% (p < 0.001, Cohen's d = 1.12); CGI was improved in 93.5%, with greater benefit for chorea than dystonia. Pain, sleep, and medication burden improved; functional classification was largely unchanged. Complications occurred in 19.6%, predominantly in emergent cases. INTERPRETATION:Bilateral GPi-DBS was associated with sustained prevention of dyskinetic crises and reduction of overall disease burden in GNAO1-related disorder, with limited impact on functional classification. These findings support earlier elective neuromodulation before recurrent crises drive cumulative morbidity and identify GPi-DBS as a crisis-preventive, symptom-modifying intervention rather than a restorative one. ANN NEUROL 2026.

Glutaric aciduria type 1 (GA1) is a rare autosomal recessive organic acidaemia caused by deficiency of the glutaryl-CoA dehydrogenase enzyme. We describe the outcomes following deep brain stimulation (DBS) for the management of dystonia of children and adults with glutaric aciduria type 1 (GA1). Cases with GA1 were identified from the institutional databases of two tertiary movement disorder services. Data were extracted from clinical records using a standardised proforma, including baseline clinical characteristics, imaging and neurophysiological findings, complications post-surgery, and outcomes as measured by the Burke–Fahn–Marsden Dystonia Rating Scale (BMFDRS) motor scores and the Canadian Occupation Performance Measure (COPM). A total of 15 children were identified aged 3–17.5 with a median age of 11.5 years at neurosurgery, and one adult undergoing DBS aged 31 years. Baseline BMFDRS motor score ranged from 58.5–114, median 105. GMFCS-equivalence level was 5 (i.e. non-ambulant) for 10/16 cases. Surgery was tolerated in all cases without evidence of metabolic decompensation. BFMDRS motor score 1-year post-surgery ranged from 57.5–108.5 (median 97.25) and at last follow-up 57.5–112 (median 104) (no statistically significant change compared to baseline at either time point, P > 0.05). COPM data were available for 11/13 children and young people (CAYP). Clinically significant improvement was reported in 7/11 at 1 year and 8/11 at last follow-up. Four CAYP transitioned to adult services. Death occurred in three cases during follow-up, in no case related to DBS. DBS may be considered as a management option for children with GA1 who have appropriately selected goals for intervention.

BACKGROUND:Pediatric dystonias are associated with a broad spectrum of etiologies, resulting in a heterogeneous patient population in whom clinical presentation, evolution, and therapeutic needs may differ. These neurological symptoms are particularly common in children and adolescents with life-limiting and life-threatening conditions requiring pediatric palliative care (PPC). The impact on the child's quality of life is significant, as is distress for caregivers. Addressing and alleviating dystonia is key to providing good palliative care; however, there is limited evidence. A greater recognition and management of dystonia in this setting is urgently needed to provide appropriate interventions and care. OBJECTIVES:To develop a standardized approach to dystonia in PPC. MATERIALS AND METHODS:A two-round Delphi process explored the views of experts on the definition, assessment, monitoring, and treatment of dystonia in PPC. Professionals from different backgrounds and disciplines were invited worldwide. The final panel comprised 71 participants who completed a multi-statement online questionnaire. RESULTS:Fifty-three items were endorsed, providing expert, consensus-based recommendations. CONCLUSIONS:The limited clinical knowledge of childhood dystonia represents a challenge, especially in children with palliative care needs. This study is a first international consensus on dystonia in PPC and offers novel approaches to improving the dystonia-related burden and advancing clinical practice in this vulnerable population.

The network model of dystonia reconciles many of the neuroanatomical and electrophysiological abnormalities identified as potential pathophysiological factors. Recent [18F]fluorodeoxyglucose-PET brain imaging findings support this concept, revealing distinct patterns of abnormal brain metabolism in specific dystonia aetiologies. However, it is unclear how changes in specific neural pathways alter brain glucose metabolism. This observational study investigates patterns of brain metabolism using [18F]fluorodeoxyglucose-PET imaging in children with dystonia, awake-resting during the uptake period, in relation to measures of brain function using standard neurophysiological tests of motor and sensory pathway integrity. Central motor conduction times, somatosensory evoked potentials and [18F] fluorodeoxyglucose-PET scans were obtained in children with dystonia or dystonic-dyskinetic cerebral palsy undergoing standard clinical assessment for bilateral pallidal deep brain stimulation between 2007 and 2018 in Evelina London Children’s Hospital. Data from 109 children aged 2.8–18.8 years were analysed retrospectively. Patients were divided into groups based on their neurophysiology results as follows: both tests normal (NN; 67), both abnormal (AA; 11), normal central motor conduction times/abnormal somatosensory evoked potentials (NA; 20), abnormal central motor conduction times/normal somatosensory evoked potentials (AN; 11). Groups were compared with a control group comprising [18F]fluorodeoxyglucose-PET scans from 39 healthy adults using Statistical Parametric Mapping 12 with age and groupwise global means as covariates. Taking into account groupwise global uptake, all four groups shared relative hypermetabolism in parietal areas, postcentral and precentral gyri. In addition, mild peri-insular hypometabolism was seen in the NN group. The NA group showed marked regional hypometabolism bilaterally in the thalami, globi pallidi, putamina, heads of the caudate nuclei and areas of peri-sylvian cortex. The AN group had hypometabolism in the thalami and posterior globi pallidi, the posterior putamina and areas of peri-sylvian cortex. The AA group also exhibited hypometabolism in the medial thalami and some areas of frontal and peri-insular cortex. Across the whole cohort, abnormal somatosensory evoked potentials were strongly associated with thalamic hypometabolism, with no marked differences for abnormal central motor conduction times. Brain metabolism patterns in dystonia relate to neurophysiological abnormalities in our study. Relative parietal hypermetabolism is more common than recognized previously, while thalamic hypometabolism is prominent in those with abnormal sensory pathway function. The findings support the network model of dystonia and emphasize the importance of multi-modal assessment in providing detailed phenotyping, which could inform individualized management strategies.

Objective Therapeutic interventions for children and young people with dystonia and dystonic/dyskinetic cerebral palsy are limited. EEG-based neurofeedback is emerging as a neurorehabilitation tool. This scoping review maps research investigating EEG-based sensorimotor neurofeedback in adults and children with neurological motor impairments, including augmentative strategies. Methods MEDLINE, CINAHL and Web of Science databases were searched up to 2023 for relevant studies. Study selection and data extraction were conducted independently by at least two reviewers. Results Of 4380 identified studies, 133 were included, only three enrolling children. The most common diagnosis was adult-onset stroke (77%). Paradigms mostly involved upper limb motor imagery or motor attempt. Common neurofeedback modes included visual, haptic and/or electrical stimulation. EEG parameters varied widely and were often incompletely described. Two studies applied augmentative strategies. Outcome measures varied widely and included classification accuracy of the Brain-Computer Interface, degree of enhancement of mu rhythm modulation or other neurophysiological parameters, and clinical/motor outcome scores. Few studies investigated whether functional outcomes related specifically to the EEG-based neurofeedback. Conclusions There is limited evidence exploring EEG-based sensorimotor neurofeedback in individuals with movement disorders, especially in children. Further clarity of neurophysiological parameters is required to develop optimal paradigms for evaluating sensorimotor neurofeedback. Significance The expanding field of sensorimotor neurofeedback offers exciting potential as a non-invasive therapy. However, this needs to be balanced by robust study design and detailed methodological reporting to ensure reproducibility and validation that clinical improvements relate to induced neurophysiological changes.

Sensory processing and sensorimotor integration are abnormal in dystonia, including impaired modulation of beta-corticomuscular coherence. However, cortex-muscle interactions in either direction are rarely described, with reports limited predominantly to investigation of linear coupling, using corticomuscular coherence or Granger causality. Information-theoretic tools such as transfer entropy detect both linear and non-linear interactions between processes. This observational case-control study applies transfer entropy to determine intra- and cross-frequency cortex-muscle coupling in young people with dystonia/dystonic cerebral palsy. Fifteen children with dystonia/dystonic cerebral palsy and 13 controls, aged 12-18 years, performed a grasp task with their dominant hand. Mechanical perturbations were provided by an electromechanical tapper. Bipolar scalp EEG over contralateral sensorimotor cortex and surface EMG over first dorsal interosseous were recorded. Multi-scale wavelet transfer entropy was applied to decompose signals into functional frequency bands of oscillatory activity and to quantify intra- and cross-frequency coupling between brain and muscle. Statistical significance against the null hypothesis of zero transfer entropy was established, setting individual 95% confidence thresholds. The proportion of individuals in each group showing significant transfer entropy for each frequency combination/direction was compared using Fisher's exact test, correcting for multiple comparisons. Intra-frequency transfer entropy was detected in all participants bidirectionally in the beta (16-32 Hz) range and in most participants from EEG to EMG in the alpha (8-16 Hz) range. Cross-frequency transfer entropy across multiple frequency bands was largely similar between groups, but a specific coupling from low-frequency EMG to beta EEG was significantly reduced in dystonia [P = 0.0061 (corrected)]. The demonstration of bidirectional cortex-muscle communication in dystonia emphasizes the value of transfer entropy for exploring neural communications in neurological disorders. The novel finding of diminished coupling from low-frequency EMG to beta EEG in dystonia suggests impaired cortical feedback of proprioceptive information with a specific frequency signature that could be relevant to the origin of the excessive low-frequency drive to muscle. Guo et al. investigate cortex-muscle interactions in young people with dystonia. Using the information theoretical technique of transfer entropy, they demonstrate impaired cortical feedback of proprioceptive information with a specific frequency signature in dystonia, which could potentially serve as a biomarker. Graphical Abstract

Dystonia, typically characterized by slow repetitive involuntary movements, stiff abnormal postures, and hypertonia, is common among individuals with cerebral palsy (CP). Dystonia can interfere with activities and have considerable impact on motor function, pain/comfort, and ease of caregiving. Although pharmacological and neurosurgical approaches are used clinically in individuals with CP and dystonia that is causing interference, evidence to support these options is limited. This clinical practice guideline update comprises 10 evidence-based recommendations on the use of pharmacological and neurosurgical interventions for individuals with CP and dystonia causing interference, developed by an international expert panel following the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) approach. The recommendations are intended to help inform clinicians in their use of these management options for individuals with CP and dystonia, and to guide a shared decision-making process in selecting a management approach that is aligned with the individual's and the family's values and preferences.

BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary movements, present a significant challenge in GNAO1-RD.ObjectivesThis study aimed to establish a standardized framework for understanding dyskinetic crises, addressing crucial aspects such as definition, triggers, diagnostic criteria, complications, and management strategies.MethodsA Delphi consensus process was conducted involving international experts in GNAO1-RD. The panel of thirteen experts participated in three voting rounds, discussing 90 statements generated through a literature review and clinical expertise.ResultsConsensus was achieved on 31 statements, defining dyskinetic crises as abrupt, paroxysmal episodes involving distinct abnormal movements in multiple body regions, triggered by emotional stress or infections. Dyskinetic crises may lead to functional impairment and complications, emphasizing the need for prompt recognition. While individualized pharmacological recommendations were not provided, benzodiazepines and clonidine were suggested for acute crisis management. Chronic treatment options included tetrabenazine, benzodiazepines, gabapentin, and clonidine. Deep brain stimulation should be considered early in the treatment of refractory or prolonged dyskinetic crisis.ConclusionThis consensus provides a foundation for understanding and managing dyskinetic crises in GNAO1-RD for clinicians, caregivers, and researchers. The study emphasizes the importance of targeted parental and caregiver education, which enables early recognition and intervention, thereby potentially minimizing both short- and long-term complications. Future research should concentrate on differentiating dyskinetic crises from other neurological events and investigating potential risk factors that influence their occurrence and nature. The proposed standardized framework improves clinical management, stakeholder communication, and future GNAO1-RD research.

BackgroundThe International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset movement disorders. MethodsTo develop recommendations for transitional care for childhood onset movement disorders, we used a formal consensus development process, using a multi-round, web-based Delphi survey. The Delphi survey was based on the results of the scoping review of the literature and the results of a survey of MDS members on transition practices. Through iterative discussions, we generated the recommendations included in the survey. The MDS Task Force on Pediatrics were the voting members for the Delphi survey. The task force members comprise 23 child and adult neurologists with expertise in the field of movement disorders and from all regions of the world. ResultsFifteen recommendations divided across four different areas were made pertaining to: (1) team composition and structure, (2) planning and readiness, (3) goals of care, and (4) administration and research. All recommendations achieved consensus with a median score of 7 or greater. ConclusionRecommendations on providing transitional care for patients with childhood onset movement disorders are provided. Nevertheless several challenges remain in the implementation of these recommendations, related to health infrastructure and the distribution of health resources, and the availability of knowledgeable and interested practitioners. Research on the influence of transitional care programs on outcomes in childhood onset movement disorders is much needed.

Dystonia is now widely accepted as a network disorder, with multiple brain regions and their interconnections playing a potential role in the pathophysiology. This model reconciles what could previously have been viewed as conflicting findings regarding the neuroanatomical and neurophysiological characteristics of the disorder, but there are still significant gaps in scientific understanding of the underlying pathophysiology. One of the greatest unmet challenges is to understand the network model of dystonia in the context of the developing brain. This article outlines how research in childhood dystonia supports and contributes to the network theory and highlights aspects where data from paediatric studies has revealed novel and unique physiological insights, with important implications for understanding dystonia across the lifespan.