搜索结果：Practical neurology

BRAF inhibitors have advanced treatment for patients with BRAF-altered high and low-grade glioma (HGG and LGG, respectively). Clinically-available therapies are effective but require selection by mutation type and careful, proactive toxicity management to maximize patient quality of life and treatment duration. While pediatric LGG patients often experience durable responses, adults with LGG and patients with HGG frequently develop treatment resistance and disease progression while on treatment. Strategies to prevent or overcome resistant disease are under active preclinical and clinical investigation. This review serves as a primer to BRAF-altered therapy in glioma, outlines best practices for using available BRAF inhibitors, and highlights emerging therapeutic approaches aimed at improving outcomes in resistant disease. It serves as a forward-looking, practical guide for clinicians treating patients with BRAF-altered glioma.Article highlightsBRAF inhibitors are effective in both pediatric and adult low- and high-grade gliomas (LGG and HGG), but treatment should be tailored to the specific BRAF alteration (Table 1).Dabrafenib combined with trametinib is FDA-approved for BRAF V600E-mutant gliomas, while tovorafenib is approved for pediatric LGGs harboring BRAF V600 mutations or BRAF fusions.Proactive management, including anticipatory guidance and dose reduction for some patients, is essential to mitigate toxicity and avoid treatment interruptions.Tumor progression can occur during treatment interruptions or drug cessation; however, some patients may respond to BRAF inhibitor rechallenge.Emerging strategies focus on combination with other therapies including radiation, autophagy inhibitors, additional targeted agents, and others to overcome acquired resistance.Next-generation BRAF inhibitors-including paradox breakers, dimer disruptors, and protein degraders-are under clinical investigation (Table 2).

Distinguishing true progression (TP) from treatment effects-pseudoprogression (PsP) and radiation necrosis (RN)-after chemoradiation for glioblastoma (GBM) is a consequential, unresolved decision that conventional MRI cannot reliably make in 30-40% of cases, and that is rarely made by any single specialty alone. We synthesized and graded evidence from RANO 2.0, advanced MRI (perfusion, diffusion, and spectroscopy), amino acid PET (per PET RANO 1.0), and radiomics, based on a literature search of PubMed/MEDLINE, Embase, and Cochrane (2010-2025). In selected cohorts, combined MRI plus amino acid PET reports areas under the curve of 0.90-0.95 versus 0.65-0.72 for conventional MRI alone; however, these figures come from cohorts spanning the full range of post-treatment enhancement-including easily classified cases-rather than the ambiguous subset in which advanced imaging is actually used, and therefore likely overstate real-world accuracy. We organize the evidence around clinical modifiers of pretest probability-MGMT methylation, interval since chemoradiation, neurologic trajectory, antiangiogenic or immunotherapy exposure, reirradiation, and lesion location-that determine how heavily each imaging tier should be weighted. For amino acid PET, we address U.S. access, including recently published prospective and multicenter diagnostic-accuracy data for 18F-fluciclovine. We propose a tiered imaging framework-RANO 2.0 MRI → perfusion MRI → amino acid PET → tissue sampling or empirical therapy-explicitly as a structure for prospective evaluation, not a validated clinical decision tool. The principal unresolved gap is amino acid PET performance conditional on an equivocal perfusion MRI, which ongoing trials should address.

Musical Museum is a concert series that features live music and short music appreciation lectures in a socially safe setting designed for individuals with neurocognitive disorders (NcDs) and their caregivers. This program was created to provide emotional well-being, intellectual stimulation and social interaction. In this manuscript, we present our viable methodology, satisfaction ratings, implementation practicality, exploratory outcomes, and plans for future quantitative research on this program. Participants, which included individuals with NcDs, their caregivers and other program supporters, experienced hourlong sessions with diverse music (both familiar and unfamiliar), enhanced by verbal introductions providing historical and musical context. Post-concert receptions encouraged social interaction. Anonymous surveys assessed satisfaction, pleasure, intellectual stimulation, likelihood to recommend and change in mood. Participants also provided open-ended feedback to evaluate logistics to determine practicality. Musical Museum sessions require operational, logistical, and artistic components including venue setup, audiovisual support, communications, printed materials, staffing, and performance planning. Attendance data and expenses were tabulated to assess practicality and acceptability. In surveys, participants reported high satisfaction, pleasure, intellectual stimulation and likelihood to recommend. Participants' perceived mood significantly improved post-session, and they showed appreciation of the social benefits of the program in open-ended questions. Over 11 completed sessions, implementation of Musical Museum proved to be practical in terms of operational, logistical, and artistic components. Largely positive survey feedback and consistent interest and attendance suggested acceptability to individuals with NcDs and their caregivers. Future directions include a controlled quantitative trial integrating psychosocial and neurophysiologic measures to examine efficacy and underlying mechanisms beyond participant-reported acceptability as well as assessment of the program's longitudinal impact on participant well-being.

Visual information processing (VIP) is essential for perception and cognition. It enables the brain to acquire and integrate visual stimuli into coherent representations. Visual information processing disorder (VIPD) is characterized by impairments in visuospatial ability, visual analysis, and visuomotor integration. These deficits significantly affect daily activities, learning, and occupational performance. The etiology of these disorders is multifaceted, including developmental anomalies, traumatic brain injuries, ocular diseases, and surgical interventions. This condition involves multiple disciplines (ophthalmology, pediatrics, neurology, and rehabilitation), posing significant challenges for clinical diagnosis, treatment, and rehabilitation. Despite the growing international focus on these disorders, there remain considerable deficiencies in their diagnosis and treatment within China. Clinicians often have limited awareness of VIPD. Standardized diagnostic criteria are lacking, and rehabilitation approaches remain inconsistent. Visual abnormalities are often overlooked in pediatrics and neurology. In contrast, ophthalmology is limited in addressing disorders related to neurological dysfunction. In response to these challenges, this guide has been developed, drawing on the experiences of Europe and America and integrating local research and practice. It provides practical and systematic guidance for the diagnosis and management of VIPD. The objective is to enhance diagnostic and therapeutic capabilities, foster interdisciplinary collaboration, and improve patients' visual function and quality of life.

Access to anti-seizure medications (ASMs) is critically important to patients with epilepsy (PWE), given that missed doses can lead to breakthrough seizures, morbidity, or mortality. Numerous ASMs are subject to U.S. Drug Enforcement Administration (DEA) scheduling regulations. Controlled substance restrictions present barriers to timely medication access. Scheduling restricts ASM access in myriad ways: biometric data and/or physical signature requirements, refill-too-soon policies, and mail-order availability may be restricted. We hypothesized that ASM misuse is rare, but there is sparse literature available regarding real-world ASM use and clinical impact of restrictions. This survey study investigates whether ASM restrictions impact patient care and whether neurologists encounter patient misuse of ASMs in common practice. An anonymous IRB-approved electronic survey was directly distributed to neurologists and neurology clinicians who treat adult patients with epilepsy via email as well as indirectly via national neurology organization platforms. 236 participants completed the survey. 82% of respondents reported treating primarily PWE. 99% of participants reported having patients experience delayed ASM refills due to restrictions, and 96% reported breakthrough seizures among patients due to scheduled ASM restrictions. Perceived patient misuse of ASMs was generally low. There was a stark difference in reported misuse rates comparing clobazam to traditional benzodiazepines, with 8% reporting rare or occasional misuse of clobazam versus 79% reporting rare or occasional misuse of traditional benzodiazepines. Perceived misuse of non-benzodiazepine, non-gabapentinoid ASMs was very rare; 1% of participants perceived any instances of misuse with brivaracetam or lacosamide, and 0% reported any misuse with perampanel or cenobamate. Respondents reported high rates of medication access issues related to controlled substance restrictions and low rates of ASM misuse. Controlled substance restrictions create practical barriers to reliably obtaining scheduled ASM prescriptions that can result in increased risk of morbidity and mortality. Controlled substance restrictions warrant reevaluation for PWE given the specific risk-benefit tradeoffs for this life-threatening neurologic condition.

The recent approval of disease-modifying therapies (DMTs) for early Alzheimer's disease (AD) marks a major shift in clinical practice. Biomarker confirmation of amyloid pathology is now required alongside clinical assessment, and blood-based tests are improving accessibility. This creates increased demand for timely and accurate diagnosis while avoiding overdiagnosis in low-probability cases. This Belgian consensus aims to guide biomarker-based diagnosis of AD in the era of DMTs and to highlight the system adaptations required for safe and equitable implementation. Belgium, with universal healthcare but regionally organised dementia care, provides a relevant case to illustrate both opportunities and challenges. This consensus was developed by 31 experts in cognitive neurology, geriatrics, neuropsychology, neuroimaging, neurochemistry, and primary care, coordinated by the Belgian Dementia Council (BeDeCo). Recommendations were based on multidisciplinary discussion, current evidence, and the organisation of dementia care in Belgium. The consensus outlines a stepwise diagnostic approach that integrates clinical assessment with biomarker confirmation using cerebrospinal fluid, amyloid-PET, and emerging blood-based tests. We review the strengths and limitations of each modality and provide guidance for use across clinical scenarios. Using Belgium as a case example, we illustrate challenges that are shared across European healthcare systems, such as limited reimbursement, unequal access to expertise, and insufficient diagnostic capacity, and formulate pragmatic recommendations to address these issues. This consensus offers practical guidance for embedding biomarker-based diagnostic strategies into clinical care. By outlining structured pathways and system-level priorities, it facilitates safe, feasible, and equitable implementation of DMTs for AD.

Autonomic dysfunction (AD) is present in nearly all people with Parkinson disease (PD), contributing to tremendous morbidity and mortality. Highly variable presentations including cardiovascular, gastrointestinal, urogenital, and thermoregulatory dysfunction can substantially affect daily function, safety, medication tolerance, and quality of life. Although autonomic symptoms are frequently encountered in neurologic practice, their management frequently extends beyond the traditional scope of neurologic care and may require input from multiple disciplines. Despite the increasing complexity of PD care and the need for coordinated multidisciplinary involvement, there are currently limited practical frameworks to guide specialist collaboration. Consequently, people with PD and their caregivers are often left to navigate fragmented care systems, conflicting recommendations, and uncertainty regarding which clinician should guide management. To help address these gaps, we provide a framework for the possible indications for specialist referrals and the potential roles of different healthcare practitioners in evaluating and treating AD. The manuscript also discusses the intersection between autonomic and neuropsychiatric manifestations in PD and offers practical clinical guidance for addressing this overlap. By providing a framework informed by coauthors in movement disorders, autonomic disorders, cardiology, nephrology, gastroenterology, urogynecology, physical therapy, and psychiatry, we hope to encourage neurologists - who often serve as the central point of contact - to collaborate closely and actively engage multidisciplinary team members in the management of these complex patients.

Despite the global promotion of evidence-informed health policy-making, translating research into actionable policy remains a challenge across settings. While global frameworks have provided guidance, adaptation to local contexts remains limited. This study aimed to co-develop a practical, context-specific, stakeholder-informed research-to-policy (R2P) framework for Indonesia. A multilevel qualitative study (May 2024-May 2025) combined a narrative literature review, expert consultations, and cognitive debriefing interviews. Literature searches in the WHO Library and PubMed, supplemented by reference list screening were conducted to explore barriers, enablers, and steps in evidence translation. Consultations involved researchers, policy-makers (national and subnational), and civil society to capture multi-stakeholder perspectives. A follow-up round of cognitive debriefing was conducted to refine the draft framework and guidance. All sessions were transcribed and analysed thematically using the Steps for Coding and Theorization (SCAT) approach. Findings were mapped against factors identified in the WHO EIDM framework on evidence uptake to inform the development of the final R2P framework. Seventeen participants contributed to framework co-development. The literature confirmed the absence of a formal R2P framework in Indonesia. Barriers included weak infrastructure, fragmented governance, low research capacity outside major centres, limited dissemination, and misalignment between research outputs and policy needs. Enablers included political commitment, knowledge-to-policy units, policy-relevant outputs, and collaborative relationships. For early researchers, policy-maker engagement, knowledge brokering, and institutional capacity building emerged as key needs. The resulting R2P framework comprises two interlinked domains: evidence generation and the policy process, highlighting continuous, multidirectional collaboration among academia, policy-makers, and communities. The co-developed R2P framework offers a practical pathway to strengthen trust, accelerate translation, and promote inclusive, evidence-informed health policies. While tailored to Indonesia, its principles of early engagement, coproduction, contextual adaptation, and institutional capacity-building may be adapted across diverse health system settings.

Acute stroke commonly causes dysphagia, which can delay recovery and worsen nutrition. Nurses detect and treat dysphagia and maintain oral hygiene, but their knowledge, attitudes, and practices (KAP) vary. This study aimed to assess nurses' knowledge, attitudes, and practices regarding dysphagia screening and oral care among stroke patients and to identify factors associated with good attitudes and practices. Cross-sectional research comprised 650 tertiary stroke and neurology nurses. Data were collected using a validated self-administered dysphagia screening and oral care knowledge, attitude, and practice questionnaire. Data analysis included descriptive statistics, Pearson's correlation, and multivariate logistic regression. Overall, nurses demonstrated good knowledge (mean score&#x202f;=&#x202f;15.6&#x202f;&#xb1;&#x202f;3.1), positive attitudes (77.4&#x202f;&#xb1;&#x202f;9.8), and moderate-to-good practices (73.2&#x202f;&#xb1;&#x202f;10.5) toward dysphagia management. Though documentation, caregiver education, and formal training were lacking, routine screening and oral care were strongly supported. Knowledge, attitude, and practice showed significant positive associations (r&#x202f;=&#x202f;0.46-0.57, p&#x202f;<&#x202f;0.001). Higher qualifications, career experience, stroke unit experience, dysphagia training, and knowledge were significantly associated with more positive attitudes and practices (p&#x202f;<&#x202f;0.05). Nurses were knowledgeable and supportive of dysphagia screening and oral care, but inadequate training and institutional support were associated with practical challenges. Improving nursing competency and stroke may benefit from in-service education, standardized screening techniques, and interprofessional teamwork.

Palliative care has been advocated to improve symptom burden and quality of life among people with progressive neurological diseases. However, validated palliative care outcome measures for neurological conditions remain limited in non-Western settings. To translate, adapt and psychometrically evaluate the Integrated Palliative care Outcome Scale for Neurological conditions (IPOS-Neuro) among people with progressive neurological diseases in Hong Kong. The traditional Chinese version of IPOS-Neuro was developed through forward-backward translations, cognitive debriefing interviews, and expert review. Psychometric properties were evaluated by examining factor structure, convergent validity, concurrent validity, internal consistency, and test-retest reliability. Comparator instruments included Palliative Care Outcome Scale, Hospital Anxiety and Depression Scale, and EQ-5D-5L. Two hundred and ten adults with progressive neurological diseases recruited from regional neurology outpatient clinics and patient support groups in Hong Kong. Confirmatory factor analysis supported the three-factor structure (Physical Symptoms, Emotional Symptoms, and Communication/Practical Issues) with acceptable fit indices. IPOS-Neuro showed good internal consistency (Cronbach's alpha&#x2009;=&#x2009;0.93), strong concurrent validity with Palliative Care Outcome Scale (r&#x2009;=&#x2009;0.74), moderate convergent validity with EQ-5D-5L index (r&#x2009;=&#x2009;-0.51) and Hospital Anxiety and Depression Scale (r&#x2009;=&#x2009;0.56), and excellent test-retest reliability (intraclass correlation coefficient&#x2009;=&#x2009;0.99). Additional exploratory factor analysis identified a new clinically-meaningful nine-factor model: psychosocial problems and symptom dimensions related to fatigue, motor, gastrointestinal, oral and sensory, cognitive, sexual, bowel, and non-motor issues. The traditional Chinese version of IPOS-Neuro showed promising psychometric properties for assessing palliative care needs in progressive neurological diseases. Future validation in larger and diverse neurological disease samples is warranted.

Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro-clinical features over time. We aimed to assess the clinical utility and diagnostic yield of a structured, phenotype-guided etiologic workup in adults meeting study criteria for DEE and to explore associations between electro-clinical phenotype and etiologic category. We prospectively enrolled consecutive adults (&#x2265;18&#x2009;years) with drug-resistant epilepsy and neurodevelopmental impairment temporally related to epileptic activity, consistent with the ILAE operational definition of DEE, referred to a tertiary epilepsy center between May 2022 and December 2025. Patients underwent a 4-phase reassessment pathway including critical review of prior documentation, detailed clinical and semiologic phenotyping, prolonged video-EEG monitoring, phenotype-guided genetic testing (targeted resequencing, chromosomal microarray), high-resolution neuroimaging, and multidisciplinary case review to support etiologic clarification and treatment planning. Among 144 patients (mean age 28.4&#x2009;years; 57.6% male), a confirmed etiology was identified in 91 (63.2%). Genetic causes predominated (65 patients, 45.1%), including monogenic (53, 36.8%) and chromosomal (12, 8.3%) disorders, primarily resolved via targeted resequencing gene panels and via chromosomal microarray analysis respectively, while structural-metabolic etiologies accounted for 26 cases (18.1%). Lennox-Gastaut syndrome was significantly associated with structural-metabolic and chromosomal etiologies (69.2% and 58.3% vs. 9.4% in monogenic; p&#x2009;<&#x2009;0.0001), whereas, excluding patients with a broader Lennox-Gastaut syndrome phenotype, absence seizures occurred exclusively in monogenic cases (p&#x2009;=&#x2009;0.024). Etiologic clarification changed clinical management in 27.1% of the cohort, including antiseizure medication optimization/precision therapies (25%) and pre-surgical referral (2.1%). In adults with suspected DEE, the practical value of this approach lies not only in diagnostic yield, but in showing that structured adult reassessment remains clinically worthwhile. Electro-clinical phenotype can help prioritize etiologic testing, and etiologic clarification can support more informed treatment planning and counseling even long after transition from pediatric care. Adults with developmental and epileptic encephalopathy (DEE) often reach adult epilepsy services without a clear diagnosis. In this study, we used a structured approach combining clinical review, video-EEG, MRI, genetic testing, and multidisciplinary discussion in 144 adults with suspected DEE. We identified a confirmed cause in 63.2% of patients. Genetic causes were the most common, but structural and metabolic causes were also important. Some seizure patterns helped guide diagnosis: Lennox-Gastaut syndrome was more common in structural-metabolic and chromosomal cases, while absence seizures occurred only in monogenic cases. Identifying the cause also helped guide treatment decisions, including medication changes, targeted therapies, surgery referral, and genetic counseling. This study shows that adults with suspected DEE can still benefit from careful diagnostic reassessment, even years after childhood.

This article is a structured narrative review that synthesizes empirical findings and expert consensus and provides policy guidance to outline implementation pathways for integrating Yoga into mainstream healthcare systems, with India as a case example. Yoga is an ancient health practice traditionally used as a holistic approach to health management and wellbeing. However, the acceptance of Yoga as an evidence-based practice in the modern healthcare delivery requires systematic reassessment for its implementation within the healthcare system to make healthcare more affordable, improve prevention, rehabilitation, and resilience thus reduce strain on medical resources. In this review, we have organized the literature review and practical insights around three core themes: stakeholder configurations and governance, economic and quality management, and implementation strategies and evaluation to develop an actionable framework for an optimal care system responsive to patients' needs and adaptable to different community settings. This article has incorporated peer-reviewed studies on the effectiveness of Yoga, its implementation in mainstream healthcare, along with relevant publicly available policy, accreditation, and practice standard sources, to emphasize constructs of implementation science and evidence-based practice. The review identifies a know-do gap between growing evidence for Yoga and its system-level adoption, proposing a staged framework that integrates stakeholder engagement, economic evaluation, quality management, and monitoring to support evidence-based implementation. We propose a comprehensive, context-sensitive model that combines traditional wisdom with contemporary behavioral, clinical, and systems-based approaches. By embedding Yoga within an implementation science framework, we advocate for its role as a mainstream, evidence-informed system. Adoption of Yoga as a therapeutic and preventive modality can be accelerated through standardized protocols, transparent evaluation and regulation, and tripartite governance among state actors, healthcare institutions, and Yoga professionals; however, the feasibility hinges on context-sensitive financial support, stakeholder management, and workforce development.

Bevacizumab is a humanized monoclonal antibody against vascular endothelial growth factor A. Its long half-life and low volume of distribution allow circulating drug to persist in the body for weeks, which becomes clinically relevant when urgent or emergent surgery is needed. Because bevacizumab is largely intravascular, therapeutic plasma exchange (TPE) is attractive, though published experience is limited. We describe four adults who underwent TPE to facilitate surgery or postoperative wound healing after bevacizumab exposure: two with glioblastoma multiforme (GBM) before craniotomy, one with GBM after bowel resection with primary anastomosis, and one with metastatic rectal adenocarcinoma before craniotomy for a hemorrhagic brain mass. Patients received one to three sessions with albumin replacement, with fresh frozen plasma added in one case. No postoperative hemorrhage or delayed wound healing occurred. These cases support a practical role for TPE when residual bevacizumab exposure remains relevant and awaiting spontaneous clearance is not feasible.

Insomnia represents a significant risk factor for impaired daytime functioning and a range of chronic health conditions and has emerged as a growing public health concern in Malaysia. The absence of standardised local guidelines complicates treatment decision-making. This consensus aimed to develop pharmacological treatment recommendations for insomnia in Malaysia using a modified Delphi approach. An eight-member expert panel comprising specialists in sleep medicine, psychiatry, neurology, and pharmacology reviewed high-level evidence on the neurobiology, diagnosis, and treatment of insomnia. A 31-item consensus statement survey addressing the definition, diagnosis, and pharmacological management of insomnia was conducted, with agreement evaluated using a five-point Likert scale. The consensus recommendations were finalised after two Delphi rounds and a final vote, with at least 75% agreement required for each statement. Consensus statements highlighted the need for tailored treatment strategies in Malaysia that combine nonpharmacological and pharmacological interventions. Insomnia was recognised as a chronic condition diagnosed primarily using subjective criteria, with sleep diaries and questionnaires recommended as assessment tools. Benzodiazepines, Z-class drugs, and dual orexin receptor agonists (DORAs) were found to be effective; however, concerns regarding long-term safety and dependency were noted. DORAs demonstrated promise in managing both sleep onset and maintenance, with lemborexant highlighted as a promising pharmacological option. The meeting emphasised the importance of individualised treatment plans and careful risk assessment, particularly for older adults, and provided practical recommendations for the management of insomnia. The integration of Cognitive Behavioural Therapy for Insomnia with pharmacotherapy was strongly advocated. These consensus statements offer a practical foundation for the development of future national guidelines to enhance insomnia care in Malaysia's primary care settings.

The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well-being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research. This review was conducted in accordance with PRISMA guidelines. A thorough search of electronic databases was performed to identify relevant original research. Two reviewers independently screened the studies for eligibility, and the quality of included studies was evaluated using the CASP tool. Key data were extracted, and a narrative synthesis was used to summarise and interpret the findings. Twenty studies involving 3474 caregivers of children, adolescents and adults with FXS were included in this review. Thirteen studies were conducted in the United States, with additional research in the United States and Canada, Italy, France, the Netherlands and Australia. Female caregivers were the primary participants in most studies. Six primary factors were identified as shaping caregivers' experiences: care-recipients' age and gender, caregivers' characteristics, disease-related factors, compromised caregiver psychological well-being, disrupted family dynamics and limited support systems or unmet needs. Challenging behaviours in individuals with FXS consistently emerge as the factor exerting the greatest influence on caregivers' psychological and practical burden. Caring for individuals with FXS places substantial burdens on caregivers, influenced by patient behaviour, family dynamics and limited support. Targeted, multidisciplinary interventions are needed to address these gaps and improve both caregiver well-being and care outcomes.

Children with spike-wave activation in sleep (SWAS) face significant neurodevelopmental impairments, including cognitive deficits, oropharyngeal dysfunction and attention-deficit/hyperactivity disorder (ADHD). While SWAS is a known contributor, the impact of specific clinical factors and the comparative efficacy of treatments like ketogenic diet (KD), steroids, and benzodiazepines (BZDs) on outcomes remain unclear. This retrospective cohort study analyzed 134 children with SWAS treated at Children's Hospital of Chongqing Medical University (2015-2024). Clinical data, electroencephalograph, neurodevelopmental assessment, and treatment response were collected. Treatment included KD (n = 11), steroids (n = 72), BZDs (n = 105, including a high-dose diazepam subgroup n = 5), and antiseizure medication (ASM) adjustments (n = 275). Higher seizure frequency correlated significantly with increased cognitive impairment (P < 0.05), oropharyngeal dysfunction (P < 0.05), ADHD (P < 0.05), and relapse rate (P < 0.05). Earlier seizure onset and SWAS onset predicted higher relapse. Structural abnormalities were associated with earlier seizure onset (P < 0.05) and greater cognitive impairment (P < 0.05). Relapse correlated with earlier onset and higher oropharyngeal dysfunction/ADHD (P < 0.05). Treatment response rates were: KD 81.8% (9/11), steroids 65.3% (47/72), BZDs 47.6% (50/105), ASM adjustments 18.9% (52/275). High-dose diazepam (0.5-1.0 mg/kg/day) achieved 80% (4/5) response. KD, steroids, and BZDs were significantly more effective than ASM adjustments (P < 0.05). Seizure frequency is a critical modifiable predictor of neurodevelopmental impairment and relapse in SWAS, independent of SWAS burden. Structural etiology increases cognitive impairment risk. KD demonstrates efficacy for Spike-Wave Index reduction, comparable to steroids and BZDs, with no statistically significant intergroup differences. High-dose diazepam shows promise for refractory cases. ASM adjustments, while less effective for Spike-Wave Index, offer practical seizure control.

Deep brain stimulation lead fracture may necessitate intracranial lead replacement. If deep brain stimulation was clinically effective before the fracture, reimplantation along the original trajectory to the same target is preferable; however, detailed technical descriptions remain limited. We present a 70-year-old woman with Parkinson disease who underwent subthalamic nucleus-deep brain stimulation. Two months after surgery, partial impedance abnormalities were detected on the left lead. At 12 months, all contacts demonstrated abnormal impedance, accompanied by worsening motor symptoms. Fourteen months after the initial surgery, we attempted to place a new lead by manually advancing it through the scar tissue that had formed along the original lead tract. Stereotactic reimplantation using a Leksell frame was prepared as a contingency if this scar-guided approach proved unsuccessful. After reopening the prior incision, the original lead was removed without resistance, and the cortical entry point was clearly identified. The preinserted stylet was removed from a new deep brain stimulation lead, which was then gently advanced through the original entry point along the pre-existing tract without reinsertion of the stylet. The lead progressed smoothly, and C-arm fluoroscopy confirmed that the tip corresponded to the prior position. Intraoperative test stimulation improved symptoms without adverse effects. Postoperative computed tomography confirmed that the reimplanted lead was positioned in an almost identical location to the prior lead. Stimulation was resumed with clinical benefit, and lead function remained normal at 6 months. Scar-guided reinsertion may represent a practical alternative; however, stereotactic backup should remain readily available, as adequate tract formation cannot be reliably predicted preoperatively.

Cerebral palsy (CP) is the most common cause of childhood physical disability, affecting approximately 1 in 400 UK children. Although defined as a non-progressive neurodevelopmental disorder arising from injury to or maldevelopment of the fetal or infant brain, CP is best understood as a clinical description rather than a definitive diagnosis, and a significant proportion of children labelled with CP are subsequently found to have an alternative-and often treatable-condition. This 15-min consultation offers paediatricians a practical framework for recognising when a child's presentation may not be CP. Structured around the dominant motor pattern-spasticity, dyskinesia/dystonia, ataxia, and early encephalopathy or seizures-we review key genetic, metabolic, structural and neurodegenerative mimics, their distinguishing clinical features and initial investigations, illustrated through three clinical vignettes.

In Denmark, informal caregivers can receive a Municipal Care Allowance to provide end-of-life care at home. While this policy acknowledges the value of caregiving, little is known about how it shapes caregivers' lived experiences and support needs during caregiving leave. This study explores the lived experiences of informal caregivers during caregiving leave, with a focus on existential, emotional, and relational dimensions. Inspired by Reflective Lifeworld Research (RLR), seven narrative interviews were conducted with caregivers who had provided end-of-life care at home. Data were analysed collaboratively using a bridled phenomenological approach to uncover the essence and themes of the phenomenon. Creative non-fiction narratives were used to illustrate findings. The essence of caregiving leave is characterised by a profound relational connection with the dying person and a purposeful structuring of everyday life around caregiving. Three themes emerged: Giving Love and History, Giving Life and Letting Go, and Giving Peace and Meaning. Caregivers experienced caregiving as both meaningful and burdensome, navigating emotional, existential, and practical terrains. The study followed the Ethical Guidelines for Nursing Research in the Nordic Countries. Informed consent was obtained orally or in writing, and anonymity was ensured. The study is approved by the University College Absalon Internal Review Board. Although the RLR approach provided deep insight into caregivers' lifeworlds, the small and context-specific sample may limit its transferability. Researcher bias cannot be entirely excluded despite efforts to bridle pre-understandings. Caregiving leave is not solely a period of strain but also a space for relational and existential growth. healthcare professionals should adopt relationally attuned and existentially sensitive approaches to support caregivers as co-travellers in the end-of-life journey.