Journal of Child Neurology最新文献

Nonketotic hyperglycinemia (NKH) is a rare genetic disorder with a global incidence of 0.4 to 1.3 per 100 000 live births with regional variation. We sought to estimate the regional birth incidence and describe the clinical and genetic features of NKH in central and Appalachian Kentucky. Fifteen patients met standard diagnostic criteria for NKH; 13 were born in Kentucky, yielding an estimated birth incidence of 2.53 per 100 000 live births (13/513 419; 95% CI 1.35-4.33). Of those with available genetic data (n = 9), 8 carried GLDC variants, with 6 having the c.1166C>T (p.A389V) variant. We found a higher incidence of NKH in central and Appalachian Kentucky compared to global estimates, with local enrichment of the p.A389V variant. These findings highlight the need for clinician awareness and further research to inform regional screening and management.

Transition of care (TOC) poses challenges across medical subspecialties, each with distinct patient needs. Understanding patient and caregiver awareness and readiness within specific patient populations is essential for developing effective population-specific TOC programs. Limited data exist describing TOC readiness in patients with neuroimmune disorders. We conducted a cross-sectional survey on youth with neuroimmune disorders and their caregivers assessing TOC readiness, challenges, and support needs. Thirty-one participants completed the survey (39% Hispanic, 29% Caucasian, 19% African American). Respondents with MOG antibody-associated disease (29%), multiple sclerosis (26%), and anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis (10%) were represented in this study. Eighty-three percent of caregivers reported their child was not ready for transition, whereas 32% of patients described feeling curious about TOC. The primary concern for both patients (53%) and caregivers (65%) was that adult providers would be unfamiliar with the patient's history. The most common patient-perceived readiness gaps included lack of knowledge of clinic information (81%), not having an emergency plan (77%), and poor understanding of insurance changes (81%). The most frequent patient-reported facilitators were access to an educational curriculum (35%) or a dedicated transition appointment (35%). More than half of patients (52%) and caregivers (61%) preferred a continuity-provider TOC model, and most supported participation in TOC support groups (55% of patients, 87% of caregivers). To conclude, significant gaps exist in TOC readiness among the neuroimmune disorder population. Key facilitators include structured education, provider continuity, and support programming-elements that could strengthen preparedness, reduce care disruption, and increase confidence in navigating adult health care systems.

BackgroundAutoimmune encephalitis in children is a severe immune-mediated disorder with significant neuropsychiatric manifestations and long-term morbidity. Despite advances in immunotherapy, poor short-term prognosis remains a challenge, necessitating identification of prognostic factors for optimized interventions.MethodsThis retrospective study analysed 96 pediatric autoimmune encephalitis patients from a single center. Demographic, clinical, and laboratory data were compared between good (n = 60) and poor (n = 36) prognosis groups. Statistical analyses included univariate tests, multivariate logistic regression, and receiver operating characteristic curve evaluation.ResultsUnivariate analysis identified autonomic symptoms, status epilepticus, impaired consciousness, infection, fever, abnormal MRI, and elevated cerebrospinal fluid cell counts as significant predictors. Multivariate analysis confirmed MRI abnormalities (odds ratio [OR] = 4.39), infection (OR = 3.03), autonomic symptoms (OR = 4.09), disorders of consciousness (OR = 4.29), and fever (OR = 3.69) as risk factors. The combined receiver operating characteristic model achieved an area under the curve of 0.816 (sensitivity 72.22%, specificity 83.33%), outperforming individual predictors.ConclusionMultivariate analysis identified abnormal MRI findings, infections, fever, autonomic symptoms, and impaired consciousness as independent predictors of poor short-term prognosis in children with autoimmune encephalitis.

IntroductionUsing National Health Interview Survey (NHIS) data from 2020 to 2022, we examined associations between a history of symptomatic head trauma/concussion diagnosis with sleep-related outcomes.MethodsGuardians of children aged 2-17 years answered survey questions indicating whether US children had prior symptomatic head trauma and/or a concussion diagnosis. Associations with symptomatic head trauma/concussion diagnosis and sleep outcomes were determined in logistic regression models adjusting for age, sex, race, region, insurance coverage, parental education, and income-poverty ratio.ResultsCompared to children without symptomatic head trauma/concussion diagnosis, children with symptomatic head trauma/concussion diagnosis were more likely to report any frequency of not feeling well-rested (OR 1.63, 95% CI 1.34-1.99), difficulty getting out of bed (OR 1.56, 95% CI 1.30-1.86), daytime fatigue (OR 1.85, 95% CI 1.55-2.22), and daytime napping (OR 1.37, 95% CI 1.13-1.65).ConclusionThis nationally representative sample found United States children with prior symptomatic head trauma/concussion diagnosis were more likely to experience several sleep difficulties.

Synaptic vesicle fusion is a process that involves the release of neurotransmitters from synaptic vesicles into the synaptic cleft. VAMP1 is a protein that mediates synaptic vesicle fusion by forming a complex with other proteins on the presynaptic membrane. Mutations in VAMP1 have been recently identified as a cause of a rare form of hereditary spastic paraplegia (HSP), a group of genetic disorders characterized by the gradual development of muscle stiffness and weakness in the lower extremities. We discuss the current knowledge on the structure and function of VAMP1 and its role in synaptic transmission, the clinical features and genetic findings of patients with VAMP1 mutations, the possible pathogenic mechanisms of VAMP1 mutations, such as impaired SNARE complex formation, calcium signaling, and synaptic vesicle recycling and the potential therapeutic strategies for modulating VAMP1 function and restoring synaptic vesicle fusion in hereditary spastic paraplegia patients. We also highlight the research gaps and emerging technologies that may advance the understanding and treatment of VAMP1-related hereditary spastic paraplegia. Furthermore, the review presents some experimental studies that have investigated the molecular and functional consequences of VAMP1 mutations in various models, such as mice, cell lines, or patient-derived samples. These studies have provided evidence for reduced or altered VAMP1 expression, impaired synaptic vesicle fusion and neurotransmitter release, altered synaptic plasticity and excitability, and neuronal degeneration in VAMP1 mutation carriers. These findings suggest that VAMP1 mutations have a significant impact on synaptic vesicle fusion dynamics and neuronal function and may contribute to the pathogenesis and phenotypic variability of hereditary spastic paraplegia.

PurposeTo assess the efficacy and safety of an updated institutional treatment protocol for convulsive status epilepticus (CSE).MethodsA single-center, retrospective cohort study was designed to investigate the effectiveness of a protocolized approach for the treatment of pediatric convulsive status epilepticus. The revised Ege Pediatric Status Epilepticus Protocol (r-EPSEP) consists of first-line therapy (step 1 and step 2 with benzodiazepines), second-line therapy (step 3 and 4 with levetiracetam /diphenylhydantoin / valproic acid), and third-line therapy (step 5 with midazolam infusion, and step 6 with propofol or thiopental sodium infusion). The success rates of each therapy line of the r-EPSEP were defined with clinical termination of convulsive status epilepticus.ResultsThe convulsive status epilepticus cohort consisted of 293 children treated with the r-EPSEP. The cumulative success rates of each therapy line were as follows; first-line with 55.2%, second-line with 82.9%, and third-line with 96.9%. Benzodiazepine-resistant convulsive status epilepticus was defined in 131 children (44.7%) with convulsive status epilepticus. The r-EPSEP provided successful termination of refractory convulsive status epilepticus in 66 of 75 children (88%) with 3 therapy categorizations: (1) second-line therapy in 29 patients (38.6%), (2) midazolam infusion in 31 (41.3%), and (3) propofol or thiopental infusion in 6 (8%). Super-refractory convulsive status epilepticus evolved in 9 children (12%). A favorable neurologic outcome was defined in 74.7% of children with Modified Rankin Scores at the discharge time of children from the intensive care unit.ConclusionThe timeline-based protocol (r-EPSEP) provided considerable success rates in terminating status epilepticus episodes at predefined time points of each therapy line with a favorable early neurologic outcome.