Pediatric Neurology[JOURNAL]
Sun
200 papers
Paroxysmal Behavioral Disturbances, Seizures, and Periventricular White Matter Disease Mimicking Leukodystrophy in Niemann-Pick C: A Clinical Vignette.
Netterwala A, Ray S, Johnson A … +1 more , Mathew T
Pediatr Neurol · 2026 Jul · PMID 42167043 · Publisher ↗
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Stroke Complicating Pediatric Bacterial Meningitis: A Retrospective Case-Controlled Cohort Analysis.
Price M, Farthing S, Wong SH … +5 more , Wilson F, Haszard JJ, Best EJ, Jones HF, Spooner CG
Pediatr Neurol · 2026 Jul · PMID 42161222 · Publisher ↗
BACKGROUND: Bacterial meningitis is a life-threatening illness, with the complication of stroke having the capacity to cause significant further harm. The purpose of this study was to examine the incidence, presentation,...
BACKGROUND: Bacterial meningitis is a life-threatening illness, with the complication of stroke having the capacity to cause significant further harm. The purpose of this study was to examine the incidence, presentation, investigation, treatment, and neurological outcome of stroke in the setting of pediatric bacterial meningitis. METHODS: A retrospective case-control study was conducted from January 1, 2012, to December 31, 2022, including children aged 0-15 years managed at a tertiary referral center in Auckland, New Zealand. Cases had laboratory-confirmed bacterial meningitis with stroke confirmed on neuroimaging. Controls were matched 1:1 by age and causative organism. RESULTS: Among 540 patients with bacterial meningitis (median age <1 year; 62% male), stroke occurred in 72 (13%). Children with stroke were more often male (67% vs 53%) and from high-deprivation households (60% vs 42%). No clinical features at presentation predicted stroke and 52/72 (72%) deteriorated within 30 hours of admission (interquartile range: 13-96). Stroke cases had lower cerebrospinal fluid white cell counts and higher protein levels. Magnetic resonance imaging performed in 68/72 (94%) identified 59 arterial ischemic and 15 venous strokes. Antithrombotic therapy was used in 12/72 (17%) without hemorrhagic transformation. Stroke cases required longer intensive care and hospital stays and had higher morbidity and mortality. CONCLUSIONS: Our large cohort confirms stroke following bacterial meningitis is associated with significant morbidity. There is a potential window for primary stroke prevention. Early neuroimaging should be sought and the role of antithrombotic and/or anti-inflammatory agents be given priority for future research to inform best practice.
Characterization of Safety Signals for Spinal Muscular Atrophy Treatments in Children Aged 0 to 3 Years Potential Safety Patterns for Further Investigation.
Zhang Y, Tang X, Chen L
Pediatr Neurol · 2026 Jul · PMID 42161221 · Publisher ↗
BACKGROUND: Spinal muscular atrophy (SMA) has become a manageable chronic condition with the advent of three major disease-modifying therapies. However, real-world safety data in children aged 0-3 years remain limited. T...
BACKGROUND: Spinal muscular atrophy (SMA) has become a manageable chronic condition with the advent of three major disease-modifying therapies. However, real-world safety data in children aged 0-3 years remain limited. This study aimed to characterize safety signals using long-term pharmacovigilance data. METHODS: Adverse drug event reports related to SMA therapies submitted to the FDA Adverse Event Reporting System were extracted from the first quarter of 2015 to the third quarter of 2025. Disproportionality analyses were conducted to detect signals. RESULTS: A total of 1,155; 408; and 957 Adverse drug event reports were identified for onasemnogene abeparvovec (OA), risdiplam, and nusinersen as the primary suspected drugs, respectively, with balanced sex distributions across the three therapies. Reports involving OA more frequently included abnormalities in liver function-related parameters. Signals related to respiratory failure, atelectasis, and pneumothorax were identified across all three therapies. Reports involving OA also showed a broader spectrum of renal and urinary preferred terms, including proteinuria, hematuria, and glycosuria. CONCLUSIONS: Distinct safety signal patterns were identified among the three SMA disease-modifying therapies in children 0-3 years. These findings provide postmarketing insights into their safety profiles. Further prospective studies are warranted to validate these findings.
Routes of Spread and Natural Progression in Acute Flaccid Myelitis.
Stutman A, Rompala A, Nice E … +4 more , Shah R, Boyce J, Kozin SH, Zlotolow D
Pediatr Neurol · 2026 Jul · PMID 42150402 · Publisher ↗
BACKGROUND: Acute Flaccid Myelitis (AFM) is a rare disease with varying presentations and prognoses. Our 82-patient cohort with AFM provides a unique opportunity to characterize patterns of motor involvement and evaluate...
BACKGROUND: Acute Flaccid Myelitis (AFM) is a rare disease with varying presentations and prognoses. Our 82-patient cohort with AFM provides a unique opportunity to characterize patterns of motor involvement and evaluate associations with outcomes. METHODS: A retrospective analysis was conducted for 82 patients diagnosed with AFM. Patients were divided into the following four groups based on the patterns of weakness: group 1 (bilateral arms or legs), group 2 (hemi-contralateral, upper extremity to contralateral lower extremity), group 3 (hemi-ipsilateral, upper to lower extremity), and group 4 (global, all four limbs). Eleven patients with isolated limb weakness and two with mixed patterns were excluded. We analyzed demographics, illness progression, ventilatory status, and ambulation status. Statistical methods included paired t-tests and Freeman-Halton extension Fisher analysis. RESULTS: Group sizes and mean ages were as follows: group 1 (N = 11, 4.5 ± 3.1 years), group 2 (N = 15, 5.5 ± 3.8 years), group 3 (N = 9, 5.0 ± 3.5), and group 4 (N = 34, 4.6 ± 3.3 years). The only statistically significant finding across groups was ambulation status (P < 0.05); all patients in group 1 were ambulatory. CONCLUSIONS: AFM can be classified into four distinct motor patterns, which may help predict prognosis. Ambulation was significantly associated with pattern of involvement, supporting the value of pattern recognition in clinical assessment.
Idiopathic Spinal Epidural Lipomatosis Presenting With Gait Regression and Acute Incontinence in a Toddler.
Menderes D, Bulut H
Pediatr Neurol · 2026 Jul · PMID 42134025 · Publisher ↗
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Prenatal Diagnosis of Sepiapterin Reductase Deficiency: Lighting and Shadows of Early Treatment With L-DOPA/Carbidopa.
Iodice A, Esposito G, Bonato A … +3 more , Fedrizzi M, Zorzi G, Maines E
Pediatr Neurol · 2026 Jul · PMID 42127584 · Publisher ↗
Sepiapterin reductase deficiency (SPD) is an extremely rare autosomal recessive neurotransmitter disorder caused by mutations in the sepiapterin reductase gene. Clinical features include motor and cognitive manifestation...
Sepiapterin reductase deficiency (SPD) is an extremely rare autosomal recessive neurotransmitter disorder caused by mutations in the sepiapterin reductase gene. Clinical features include motor and cognitive manifestations, and L-DOPA/Carbidopa is the main therapy available. To date, it is not known if prenatal diagnosis of SPD may improve the motor and cognitive outcomes by prompt correction of dopamine and serotonin deficiency after birth. We describe the motor and cognitive profiles of 2 siblings with SPD with a follow-up of 9 and 6 years, respectively. The diagnosis of the second patient was prenatally performed and the patient was treated by the neonatal age. Conversely, the first patient was treated by 10 months of age. Early treatment with L-DOPA/Carbidopa seems to be effective in improving motor outcomes but had no impact on cognitive impairment. Protocols for further treatment attempts, potentially also started before birth, are needed to provide conclusive results.
Improving Diagnosis and Management of Infantile-Onset Epilepsies in Resource-Limited Settings (SHIELD Model).
Datta S, Negi S, Madaan P … +5 more , Viswanathan S, Valente K, Wilmshurst J, Sankhyan N, Sahu JK
Pediatr Neurol · 2026 Jul · PMID 42119404 · Publisher ↗
Infantile-onset epilepsies represent the most critical subset of all epilepsies, distinguished by peak incidence and disproportionately high morbidity and mortality. These encompass a heterogeneous group of epilepsy synd...
Infantile-onset epilepsies represent the most critical subset of all epilepsies, distinguished by peak incidence and disproportionately high morbidity and mortality. These encompass a heterogeneous group of epilepsy syndromes and often present with unusual and complex symptomatology. Their early onset signals a trajectory toward a lifelong burden of drug-resistant epilepsy, imposing a profound burden on health systems and society. While timely diagnosis and treatment are crucial to reduce morbidity and improve outcomes, resource-limited settings face significant systemic barriers. Despite fragmented epidemiological surveillance, converging evidence suggests a high burden of infantile epilepsies in resource-limited settings, driven by preventable perinatal brain injury, infectious contributors, and delayed recognition of epileptic spasms. The landscape of infantile-onset epilepsies in these settings is shaped by an intricate interplay of various factors, including burden, diverse clinical syndromes, underlying etiology, diagnostic challenges, treatment barriers, outcomes, and socioeconomic and cultural factors. The preponderance of structural etiologies, long treatment lag, large treatment gap, and associated social stigma largely define the relatively poor outcomes of infantile-onset epilepsies in these settings. This review outlines the current challenges and proposed solutions for managing infantile-onset epilepsies in resource-limited settings.
Emerging Topics in Neurogenomics: Summary From Inaugural Child Neurology Society Genetics Summit.
Sen K, Gottlieb-Smith R, Amin S … +23 more , Ananth A, Bartlett V, Bass N, Brock D, Conrad E, Ceulemans S, Davids L, Dhamija R, Dills S, Goldstein A, Goldstein J, Grindling H, Harmon J, Julich K, Levy R, Nolan D, Rajan D, Ream M, Schmidt T, Schreiber J, Terrell M, Strelzik J, Dang L
Pediatr Neurol · 2026 Jul · PMID 42114168 · Publisher ↗
The practice of child neurology has undergone a profound transformation over the past 2 decades, driven by advances in genetic testing that enable precise diagnosis, and the development of targeted therapies. Despite the...
The practice of child neurology has undergone a profound transformation over the past 2 decades, driven by advances in genetic testing that enable precise diagnosis, and the development of targeted therapies. Despite these advances, preparing and educating the child neurology workforce to confidently integrate neurogenomics into clinical care remains a significant challenge. To address this gap, our group conducted needs assessment surveys and developed the Child Neurology Society Genetics Curriculum, culminating this year in the inaugural Genetics Summit at the Child Neurology Society Annual Meeting. The summit was designed and led by a team of dual-trained neurogeneticists, genetic counselors, and medical educators, emphasizing practical, clinically relevant learning. Foundational sessions focused on principles of genetic testing and interpretation, followed by case-based modules illustrating real-world application in child neurology practice. The third component of the summit centered on emerging themes in neurogenomics, delivered through lobby-style talks that fostered continuous, bidirectional engagement with participants. Topics included effective collaboration with genetic counselors, equity and access to genetic testing, the role of rapid genomic sequencing in critically ill children, and considerations for clinical trial readiness. This paper synthesizes existing literature on these emerging domains alongside survey data and live audience participation from the summit, highlighting key educational gaps, evolving practice needs, and strategies to support scalable, interactive neurogenomics education for the child neurology community.
Novel Smartphone-Based Screening Tool for Absence Seizures in Pediatric Settings: A Comparative Study With Video EEG.
Kuperman R, Blanco NJ, Buchhalter J … +5 more , Kessler S, Knupp K, Lin N, Kremer K, Aungaroon G
Pediatr Neurol · 2026 Jul · PMID 42105684 · Full text
BACKGROUND: Staring spells, a common chief complaint in pediatrics, lead to both over-referral and under-referral to neurologists, creating significant challenges in clinical care. Children with nonepileptic staring epis...
BACKGROUND: Staring spells, a common chief complaint in pediatrics, lead to both over-referral and under-referral to neurologists, creating significant challenges in clinical care. Children with nonepileptic staring episodes are frequently referred unnecessarily to neurology, while children with Childhood Absence Epilepsy are commonly misdiagnosed with disorders such as attention-deficit/hyperactivity disorder (ADHD). Hyperventilation (HV) has long been used as a neurobehavioral tool to provoke and diagnose absence seizures in children with suspected Childhood Absence Epilepsy. We evaluated the Eysz HV Recorder, a smartphone-based tool that guides children through HV while capturing video, as a screening tool for absence seizures. METHODS: Sixty participants underwent HV using the HV Recorder during electroencephalography observation. Two independent, blinded panels of three epileptologists each reviewed the data as follows: one panel reviewed the video electroencephalography (vEEG) and the other reviewed the HV Recorder video. We assessed the HV Recorder reviewers' ability to detect seizures compared to the vEEG reviews. RESULTS: HV Recorder reviewers had 100% sensitivity and 91% specificity for identifying absence seizing patients with seizures ≥7 s. Individual seizures were detected with 96% sensitivity for seizures ≥7s and 86% across seizures of all lengths. Agreement levels were similar between epileptologists reviewing the vEEG and the HV Recorder video (vEEG-vEEG: 90%, HV-HV: 87%, HV-vEEG: 82%). Reviewers reported they could clearly identify clinical events from the HV Recorder video more often than the vEEG video. CONCLUSIONS: The Eysz HV Recorder is an accurate tool with high sensitivity and specificity for identifying absence seizures, which could aid clinicians in differentiating epileptic from nonepileptic staring spells.
Assessment of the Impact of Social Anxiety on Primary Headache in Adolescents: A Case-Control Study.
Sargin F, Sert S, Kaygusuz Aydemir B … +5 more , Alçi M, Şahin S, Çelik H, Çaksen H, Güven AS
Pediatr Neurol · 2026 Jul · PMID 42102621 · Publisher ↗
BACKGROUND: Primary headaches are common in adolescence and frequently associated with psychosocial difficulties. This study investigated the association between social anxiety symptoms and primary headache in adolescent...
BACKGROUND: Primary headaches are common in adolescence and frequently associated with psychosocial difficulties. This study investigated the association between social anxiety symptoms and primary headache in adolescents using a case-control design and examined the influence of sociodemographic and environmental factors. METHODS: Adolescents aged 12-18 years diagnosed with primary headache according to the International Classification of Headache Disorders, 3rd edition, and age- and sex-matched healthy controls without recurrent headache or psychiatric disease were included. Social anxiety was assessed using the Social Anxiety Scale for Adolescents (SAS-A) and its subscales as follows: Fear of Negative Evaluation, Social Avoidance and Distress-General, and Social Avoidance and Distress in New Situations. Sociodemographic characteristics, parental education, family income, and exposure to secondhand and thirdhand tobacco smoke were recorded. RESULTS: The study included 190 adolescents (95 with primary headache and 95 controls). Median total SAS-A scores were significantly higher in the headache group than in controls (40 [interquartile range: 31-51] vs 30 [interquartile range: 25-37], P < 0.001). All SAS-A subscale scores were also significantly elevated in adolescents with primary headache (all P < 0.001). Although lower parental education, lower income, and greater tobacco smoke exposure were more common in the headache group, higher social anxiety scores persisted across nearly all sociodemographic subgroups. CONCLUSIONS: Adolescents with primary headache exhibit significantly higher social anxiety levels than healthy peers, independent of socioeconomic and environmental factors. These findings underscore the importance of routine anxiety screening and psychosocial interventions in adolescent headache management.
Global Prevalence of Spinal Muscular Atrophy in 204 Countries and Territories, 1960-2024: A Systematic Review and Bayesian Modeling Study.
Jeong YD, Son Y, Jeon S … +8 more , Lee K, Kim HJ, Hwang Y, López-Gil JF, Rahmati M, Woo HG, Kang J, Yon DK
Pediatr Neurol · 2026 Jul · PMID 42102620 · Publisher ↗
BACKGROUND: Despite major therapeutic advances, the global epidemiology of spinal muscular atrophy (SMA) remains poorly characterized, with substantial geographic disparities in diagnostic capacity and data availability....
BACKGROUND: Despite major therapeutic advances, the global epidemiology of spinal muscular atrophy (SMA) remains poorly characterized, with substantial geographic disparities in diagnostic capacity and data availability. Here, we aimed to estimate the global, regional, and national prevalence of SMA across all ages, newborns, and children. METHODS: We systematically searched PubMed/MEDLINE, Embase, CINAHL, and Google Scholar from database inception to October 13, 2025, for studies reporting SMA prevalence. We used a Bayesian hierarchical linear mixed-effects model to estimate SMA prevalence for newborns, children, and all ages across 204 countries and territories from 1960 to 2024. All estimates were derived from 4000 posterior draws with 95% credible intervals. We further assessed the associations between prevalence estimates and the Sociodemographic Index (SDI), the Healthcare Access and Quality Index, and gross domestic product per capita. RESULTS: A total of 58 eligible studies reporting the prevalence of SMA were included. The global lifetime Bayesian prevalence of SMA across all ages was 0.010% (95% credible interval, 0.002-0.021). Prevalence was highest in high-income countries (0.027% [0.000-0.067]) and lowest in South Asia and sub-Saharan Africa (both 0.002% [0.002-0.003]). The global estimated prevalence among newborns was 0.020% (0.007-0.043) and among children was 0.008% (0.002-0.016). Western Europe showed the highest regional prevalence while South Asia and sub-Saharan Africa had the lowest. Higher national prevalence of SMA was positively associated with higher Sociodemographic Index, Healthcare Access and Quality, and gross domestic product per capita. CONCLUSIONS: This study highlights the need to strengthen global surveillance, expand newborn and genetic screening, and improve diagnostic infrastructure, particularly in under-resourced settings.
Spontaneous Leg Movements Measured by Wearable Sensors in Infancy Differentiate Later Risk for Cerebral Palsy.
Pierce SR, Ghazi MA, Kolobe THA … +6 more , Fagg AH, Skorup JC, Ruwaih NI, Jawad AF, Prosser LA, Smith BA
Pediatr Neurol · 2026 Jul · PMID 42090915 · Full text
BACKGROUND: To determine if early spontaneous leg movements of infants differentiate risk status for cerebral palsy (CP) in infants who had a perinatal brain injury. METHODS: Infants born at risk for CP (due to a perinat...
BACKGROUND: To determine if early spontaneous leg movements of infants differentiate risk status for cerebral palsy (CP) in infants who had a perinatal brain injury. METHODS: Infants born at risk for CP (due to a perinatal brain injury) were classified as high risk for CP (n = 33) or not at high risk (n = 21), at 4 months of age, using General Movements Assessment and Test of Infant Motor Performance. Full-day leg movement data were recorded using wearable inertial sensors on each ankle (2 days per month, from age 1 to 4 months). Kinematic parameters were derived from accelerometer and gyroscope data as follows: (1) number of leg movements per hour awake; (2) median leg movement acceleration; (3) median leg movement duration; and (4) fuzzy entropy of peak leg movement acceleration. The leg kinematic parameters measured at month 1 and month 4 were analyzed using mixed-effects models. RESULTS: Infants classified as high risk for CP had statistically significantly fewer number of leg movements per hour awake and shorter median leg movement duration than infants not at high risk (P = 0.0322 and P = 0.0023, respectively). CONCLUSIONS: The spontaneous movements of infants can be characterized in their natural environments using wearable sensors and have potential to inform recommendations for early intervention and follow-up with experts in CP diagnosis.
Hospital Care for Pediatric Stroke in the United States: Resource Utilization, Charges, Comorbidities, Death, and Disability (2003-2022).
Ghauri MS, Pabst L, Tenhoeve SA … +11 more , Kilburg CJ, Hongsermeier-Graves N, Dantam C, Kurudza E, Coletti M, Rennert RC, Grandhi R, Couldwell WT, Steinberg J, Wali A, Ravindra VM
Pediatr Neurol · 2026 Jul · PMID 42061145 · Publisher ↗
BACKGROUND: The incidence and prevalence of pediatric ischemic stroke are increasing, and care patterns are changing. We examined health care utilization and outcomes in admissions in the United States across 2 decades o...
BACKGROUND: The incidence and prevalence of pediatric ischemic stroke are increasing, and care patterns are changing. We examined health care utilization and outcomes in admissions in the United States across 2 decades of data. METHODS: This cross-sectional study examined Kids' Inpatient Database data from 2003, 2006, 2009, 2012, 2016, 2019, and 2022. The primary outcome was in-hospital death. Secondary outcomes were length of stay, discharge disposition, total charges, and disability-adjusted life years (DALYs). RESULTS: Pediatric ischemic stroke hospitalizations increased 105% (2003: 2,879; 2022: 5,916). Overall annual charges were $2.67 billion in 2022; mean length of stay was 18.8 days. Overall mortality in 31,927 admissions was 11%-highest among infants and young children. Compared with neonates, adjusted mortality risk was elevated for children aged 29 days to 365 days (adjusted odds ratio [aOR] 1.56), 1-9 years (aOR 1.44), 10-12 years (aOR 1.34), and 13+ years (aOR 1.27). Treatment at nonpediatric hospitals (aOR 1.66) and self-pay (aOR 1.34) were independently associated with higher mortality and thrombectomy with lower mortality (aOR 0.48). Nonhome discharge was independently associated with older age and decompressive craniectomy. Across 22,833 admissions, total DALYs more than doubled, primarily from admissions without advanced procedures, and children 1-4 years had the highest DALYs. CONCLUSIONS: Pediatric ischemic stroke carries substantial mortality, resource burden, and lifetime health loss, disproportionately affecting the youngest patients. Younger age, nonpediatric hospitals, and self-pay independently predict higher mortality; thrombectomy appears protective. Nonhome discharge involved higher hospitalization costs, reflecting increased resource utilization. These findings highlight the economic impact of pediatric stroke and the importance of coordinated discharge planning and rehabilitation access.
Revisiting Obstetric Brachial Plexus Injuries Through a Central Nervous System Lens: Toward Integrated Diagnostic and Therapeutic Frameworks.
Mahiroğlu H, Ergin G
Pediatr Neurol · 2026 Jul · PMID 42061144 · Publisher ↗
Obstetric brachial plexus injury (OBPI) has long been considered primarily a peripheral nerve disorder. However, recent studies increasingly suggest central nervous system (CNS) involvement, which may play an important r...
Obstetric brachial plexus injury (OBPI) has long been considered primarily a peripheral nerve disorder. However, recent studies increasingly suggest central nervous system (CNS) involvement, which may play an important role in shaping clinical outcomes and guiding treatment decisions. This review examines the neurophysiological and neuroimaging evidence pointing to CNS alterations in individuals with OBPI, including impaired motor programming, developmental apraxia, altered interhemispheric dynamics, and reorganization of sensorimotor cortical areas. Techniques such as functional magnetic resonance imaging, navigated transcranial magnetic stimulation, and near-infrared spectroscopy have helped reveal these central adaptations. Additionally, the review highlights the role of motor imagery, reaction time, and hand laterality judgment as potential indirect clinical markers of CNS involvement. Beyond these indirect approaches, no clinically applicable scale for assessing central involvement in OBPI has yet been established. Despite advances in rehabilitation strategies, most conventional approaches continue to focus on the affected limb, often overlooking the broader neural mechanisms. Considering the brain's potential for plasticity, particularly in children, CNS-focused interventions such as sensory training, virtual reality therapies, motor imagery, noninvasive brain stimulation, constraint-induced movement therapy, and environmental enrichment could support wider functional recovery. Although some of these approaches are part of conventional rehabilitation practice, their relevance to CNS involvement in OBPI has not yet been clearly established. Further research is needed to identify and evaluate assessment and treatment approaches that take CNS involvement into account in OBPI.
KCNA2 Variants in Epilepsy: Focusing on Spike-and-Wave Activation in Sleep.
Ma A, Gong P, Jiao X … +8 more , Niu Y, Xu Z, Zhou Z, Zhang G, Li Z, Liang J, Qin J, Yang Z
Pediatr Neurol · 2026 Jun · PMID 42033987 · Publisher ↗
BACKGROUND: The clinical manifestations and genotype-phenotype correlations of KCNA2 variants in epilepsy patients, particularly those with spike-and-wave activation in sleep (SWAS), remain poorly characterized. METHODS:...
BACKGROUND: The clinical manifestations and genotype-phenotype correlations of KCNA2 variants in epilepsy patients, particularly those with spike-and-wave activation in sleep (SWAS), remain poorly characterized. METHODS: We analyzed clinical data from our 18 patients with KCNA2 variants and conducted a comprehensive literature review of cases with complete clinical data, resulting in a total of 77 patients. For genotype-phenotype correlation analysis, patients were categorized based on variant localization. Additionally, we summarized and analyzed the clinical characteristics and treatment of 14 patients with SWAS. RESULTS: All our 18 patients presented with epilepsy, with a median seizure onset age of 6 months. Intellectual disability was observed in 83.3% of patients, and developmental delay in 77.8%. Abnormal electroencephalography findings were present in 94.4% of patients, with 44.4% exhibiting SWAS. Genotype-phenotype analysis of total 77 patients revealed that variants in the pore domain were significantly associated with higher rates of motor disorders (P = 0.007) and SWAS (P < 0.001), while S1-S4 segment variants showed a higher incidence of magnetic resonance imaging abnormalities (P = 0.049). Among 18.2% (14/77) patients with SWAS (12 with p. Pro405Leu, one with p. Val369Phe and one with p. Ile409Phe/Leu), only 42.9% responded effectively to treatment, with 28.6% developing drug-resistant epilepsy. Valproic acid was the most commonly prescribed medication, and combination therapies showed promising results in some cases. CONCLUSIONS: Our findings provide strong evidence supporting the association between KCNA2 pathogenic variants and SWAS. The high prevalence of SWAS in our cohort and literature review highlights the importance of considering KCNA2 variants in diagnosing patients with SWAS.
Factors Influencing Early and Late B-Cell Repopulation After Rituximab Therapy in Pediatric Central Nervous System Inflammatory Disorders.
Marefi A, Grasso EA, Garber L … +5 more , Narula S, Waldman A, Bar-Or A, Banwell B, Hopkins SE
Pediatr Neurol · 2026 Jul · PMID 42033861 · Publisher ↗
OBJECTIVES: To identify factors associated with early and late B-cell repopulation in pediatric patients with neuroimmune disorders treated with rituximab (RTX), and to provide practical guidance on treatment protocols....
OBJECTIVES: To identify factors associated with early and late B-cell repopulation in pediatric patients with neuroimmune disorders treated with rituximab (RTX), and to provide practical guidance on treatment protocols. METHODS: This single-center retrospective study included pediatric patients with central nervous system neuroinflammatory disorders treated with RTX from January 2014 to December 2023, and who had at least one CD19+ B-cell test. B-cell depletion was defined as an absolute CD19+ cell count of ≤10 cells/μL after treatment. Early repopulation was defined as >10 cells/μL at 150 days; late repopulation was considered as ≤10 cells/μL after 210 days. Predictors of early and late B-cell repopulation were evaluated using univariate and multivariate generalized linear mixed models. Relapses during B-cell repopulation and adverse events were recorded across all participants. RESULTS: The study included 152 patients. Early B-cell repopulation was noted in 32 patients and was associated with younger age at first infusion (odds ratio [OR] = 0.2, 95% confidence interval [CI]: 0.1-0.4). Late repopulation in 52 patients was associated to older age at first infusion (OR = 1.09, 95% CI: 1.02-1.16) and higher number of infusions (OR = 1.17, 95% CI: 1.08-1.2). Patients with multiple sclerosis did not experience relapses during repopulation. Patients switched to a single RTX dose remained adequately depleted. Adverse events were reported in 26% of the cohort, with hypogammaglobulinemia being the most common (23/152, 15%). CONCLUSIONS: Age and the number of infusions influence the timing of B-cell repopulation. Tailoring RTX regimens and ongoing monitoring, considering age, diagnosis, and treatment duration, can optimize RTX benefits while minimizing risks.
High-Resolution Vessel Wall Imaging in Pediatric Mycoplasma Pneumoniae-Associated Central Nervous System Vasculitis.
Zhang M, Li X, Zhang Y
Pediatr Neurol · 2026 Jun · PMID 42024962 · Publisher ↗
BACKGROUND: To evaluate the clinical and imaging features, particularly the characteristics of high-resolution vessel wall imaging, in pediatric cases of Mycoplasma pneumoniae-associated central nervous system vasculitis...
BACKGROUND: To evaluate the clinical and imaging features, particularly the characteristics of high-resolution vessel wall imaging, in pediatric cases of Mycoplasma pneumoniae-associated central nervous system vasculitis (MP-CNSV). METHODS: The retrospective study enrolled five pediatric patients diagnosed with MP-CNSV (January 2022 to December 2024). Clinical symptoms, laboratory findings, and imaging results were analyzed. RESULTS: All five patients exhibited acute neurological deficits, with preceding respiratory infections confirmed as MP infection. Magnetic resonance imaging (MRI) revealed acute ischemic infarctions in all cases, with all lesions localized to anterior circulation vessels. Magnetic resonance angiography and high-resolution vessel wall imaging assessments indicated that 11 out of 55 large and medium vessels were affected, with anterior circulation involvement in all patients. Four out of five cases exhibited multiple segmental foci and three out of five cases displayed long-segment involvement along the internal carotid artery. All patients exhibited grade 3-4 stenosis and concentric enhancement. Clinical follow-up showed remission in all patients. On vessel wall imaging follow-up, one patient showed progression of vascular stenosis at 3 months, which stabilized by 9 months; two patients exhibited reduced vessel wall enhancement and/or stenosis. CONCLUSIONS: Predominant anterior circulation involvement is a characteristic of childhood MP-CNSV cases in this cohort. A long-segment lesion of the internal carotid artery is also a hallmark of this case series. Moreover, all cases in our study demonstrated a monophasic disease course, which provides valuable insights for the formulation of immunosuppressive treatment strategies.
Utilization of Stiripentol in Children With Developmental and Epileptic Encephalopathies: Considerations for Clinical Practice.
Wheless JW, Shahid AM, Vidaurre JA
Pediatr Neurol · 2026 Jun · PMID 42024961 · Publisher ↗
Developmental and epileptic encephalopathies (DEEs) are a group of pediatric seizure syndromes, accompanied by developmental delay or regression and cognitive, psychiatric, and/or behavioral impairment. Seizures can be f...
Developmental and epileptic encephalopathies (DEEs) are a group of pediatric seizure syndromes, accompanied by developmental delay or regression and cognitive, psychiatric, and/or behavioral impairment. Seizures can be frequent and are typically refractory to treatment with antiseizure medications. In addition to the high burden of disease endured by patients, DEEs are also associated with negative psychosocial impacts and reduced quality of life for parents and caregivers. Stiripentol is an antiseizure medication approved for the treatment of seizures associated with Dravet syndrome in children 6 months of age and older currently taking clobazam. Early studies in children with drug-resistant seizures provided preliminary evidence of the efficacy and safety of adjunctive stiripentol in seizure syndromes other than Dravet syndrome. These studies have since been followed by additional studies in cohorts of children with different DEEs, as well as studies in children with a specific non-Dravet DEE diagnosis, which have demonstrated association of add-on stiripentol treatment with improvements in seizure control, increased rates of seizure freedom, reductions in rates of status epilepticus, and, in a few studies, improvements in cognitive outcomes. Given stiripentol's favorable safety and tolerability profile, these results suggest a potential role of stiripentol in the treatment of refractory patients with DEE. The purpose of this paper is to review the available evidence of the efficacy and safety of stiripentol in children with non-Dravet DEEs. Practical considerations regarding the use of stiripentol in clinical practice to treat pediatric patients with DEE will also be discussed.
Accountability and Clinical Nuance in Harmful Vocal Tics: Reflections on a Recent High-Profile Tourette Syndrome Incident.
Manbeck C
Pediatr Neurol · 2026 Jun · PMID 42024960 · Publisher ↗
Abstract loading — click title to view on PubMed.
From Misdiagnosis to Treatment: Genetic Landscape and Genotype-Phenotype Correlations of Hyperekplexia.
Sarigecili E, Işıkay S, Bozdagan ST … +5 more , Kömür M, Ucar HK, Orgun LT, İncecik F, Erol İ
Pediatr Neurol · 2026 Jun · PMID 42013565 · Publisher ↗
BACKGROUND: Hyperekplexia (hereditary startle disease) is a rare, treatable neurogenetic disorder often misdiagnosed as epilepsy, leading to unnecessary interventions. This study aims to characterize the clinical and gen...
BACKGROUND: Hyperekplexia (hereditary startle disease) is a rare, treatable neurogenetic disorder often misdiagnosed as epilepsy, leading to unnecessary interventions. This study aims to characterize the clinical and genetic features of Turkish patients with hyperekplexia and highlight genotype-phenotype correlations. METHODS: We retrospectively analyzed 16 patients diagnosed with hyperekplexia across five tertiary centers in southern Turkey from 2011 to 2025. All patients underwent genetic testing via Next-Generation Sequencing. Clinical features, treatment responses, and neurodevelopmental outcomes were evaluated according to specific gene mutations (GLRA1, SLC6A5, and GLRB). RESULTS: All patients (100%) presented with exaggerated startle responses and nonepileptic tonic attacks but were initially misdiagnosed with epilepsy. The median delay in diagnosis was 26 months. The misdiagnosis periods for the patients were as follows: one-6 months (n = 4, 25%); 6-12 months (n = 3, 18%); 12-24 months (n = 2, 12%); 24-36 months (n = 4, 25%); and more than 36 months (n = 3, 18%). Genetic analysis revealed GLRA1mutations in 56% (n = 9), SLC6A5 in 25% (n = 4), and GLRB in 19% (n = 3). We identified a homozygous nonsense mutation in the GLRB gene (c.995 G > A; p.Trp332Ter) in three patients from the same family. Genotype-phenotype correlation revealed distinct patterns: while patients with GLRA1 and SLC6A5 mutations generally responded well to clonazepam, those with the GLRB mutation exhibited severe global neurodevelopmental delay, autism spectrum features, and required levetiracetam due to poor response to benzodiazepines. CONCLUSIONS: Hyperekplexia should be strongly considered in infants with exaggerated startle reflexes to prevent potential developmental consequences of delayed diagnosis. Furthermore, this study confirms that GLRB variants may be associated with a more complex phenotype, including autism and resistance to standard benzodiazepine therapy.
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