Pediatric Neurology[JOURNAL]
Sun
200 papers
Corrigendum to Temporary Pacemaker in a Pediatric Guillain-Barré Case With Life-Threatening Bradyarrhythmia Pediatr Neurol 177 (2026) 109-110. doi: 10.1016/j.pediatrneurol.2026.01.015.
Karaca Ö, Akgün G, Korulmaz A
Pediatr Neurol · 2026 Jul · PMID 42399113 · Publisher ↗
Abstract loading — click title to view on PubMed.
Clinical Symptoms in Late Infantile and Juvenile Onset Neuronal Ceroid Lipofuscinosis Type 7 (CLN7 Disease).
Vermilion J, Vierhile A, Pereira-Frietas M … +4 more , Adams HR, Beausoleil E, Albanis E, Mink JW
Pediatr Neurol · 2026 Jun · PMID 42398224 · Publisher ↗
BACKGROUND: Neuronal ceroid lipofuscinosis type 7 (CLN7 disease) can present with late-infantile or juvenile onset phenotypes. Current understanding of disease progression is limited as most published data derive from ca...
BACKGROUND: Neuronal ceroid lipofuscinosis type 7 (CLN7 disease) can present with late-infantile or juvenile onset phenotypes. Current understanding of disease progression is limited as most published data derive from case reports or case series. Our goal was to characterize clinical aspects of CLN7 disease across phenotypes. METHODS: Participants with CLN7 disease were enrolled in a longitudinal observational study. We obtained medical and developmental histories, assessed adaptive behavior ability, and conducted standardized NCL-specific assessments, including the Unified Batten Disease Rating Scale and/or the Hamburg late infantile NCL rating scale. RESULTS: We enrolled 5 participants with late infantile onset and 2 participants with juvenile onset CLN7 disease. Those with late-infantile CLN7 disease typically demonstrated normal early development followed by a plateau in language development. Initial symptoms were commonly cognitive/learning problems (median onset 3.0 years). Developmental regression started between ages 4 and 6 years, with loss of independent ambulation and expressive language by age 6 years. In contrast, both participants with juvenile onset CLN7 disease had normal early development with vision loss as the initial symptom (ages 10-12.5 years), followed by seizure onset within 4 years. CONCLUSIONS: Late-infantile and juvenile onset phenotypes of CLN7 disease have distinct natural histories and progression patterns, including typical presenting symptoms, presence of developmental regression and differences in disease course. Disease progression in the juvenile cohort was more protracted compared to the late infantile cohort. Characterizing the natural history of CLN7 disease phenotypes is essential for improving early diagnosis, improving clinical management, and supporting therapeutic development for this devastating disorder.
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database.
Potter SN, Petzold C, Garbarini K … +26 more , Forsythe AN, Jalazo E, Gable J, Zentz S, Okoniewski KC, Alperin S, Berry-Kravis E, Bird LM, Carson RP, de Wit MY, Heimer G, Le Pichon JB, Lindsey W, Lowden A, Makowski C, Marsh E, Myers KA, Nangia S, Nespeca M, Roche-Martínez A, Schleifer P, Sell E, Thibert R, Walleigh D, Moore A, Wheeler A
Pediatr Neurol · 2026 Jun · PMID 42398223 · Publisher ↗
BACKGROUND: Epilepsy is a core feature of Angelman syndrome (AS) and a major contributor to morbidity and caregiver burden. The current study provides updated caregiver-reported data on seizure characteristics, triggers,...
BACKGROUND: Epilepsy is a core feature of Angelman syndrome (AS) and a major contributor to morbidity and caregiver burden. The current study provides updated caregiver-reported data on seizure characteristics, triggers, and management in AS. METHODS: Caregivers of 130 individuals with AS enrolled in the Linking Angelman and Dup15q Data for Expanded Research Database completed an online questionnaire assessing seizure characteristics, age at first seizure and diagnosis, perceived triggers, and management strategies. Participants were grouped by molecular subtype (deletion vs nondeletion). Descriptive statistics and group comparisons were conducted. RESULTS: Seizures were more frequently reported in individuals with deletion subtypes compared to those with nondeletion subtypes. The most common seizure-related manifestations (myoclonic, atonic, and atypical absence features) did not differ between groups. Individuals with deletion subtypes experienced earlier epilepsy diagnosis than those with nondeletion subtypes, though age at first seizure prompting medical attention did not differ significantly between the groups. About half of caregivers were unsure of seizure triggers; among identified triggers, illness or infection with a fever was most common. Pharmacologic treatment was the primary management approach, with levetiracetam most frequently reported. Side effects were the most common reason for medication discontinuation, and only 69% of caregivers reported access to or use of an acute seizure rescue medication. CONCLUSIONS: Caregiver-reported data from the Linking Angelman and Dup15q Data for Expanded Research Database provide an updated characterization of seizures in AS. Gaps in trigger identification and availability or use of rescue medications highlight opportunities to improve standard-of-care implementation in AS.
Impact of Postpandemic Pediatric Infection Rebound on Febrile Seizures: A Nationwide Cohort Study, 2013-2023.
Okubo Y, Hayakawa I, Sugitate R … +1 more , Nariai H
Pediatr Neurol · 2026 Jun · PMID 42385424 · Publisher ↗
BACKGROUND: Febrile seizures (FSs) affect younger children and typically accompany common infectious diseases. The COVID-19 pandemic disrupted pediatric infectious disease patterns, yet how these changes have influenced...
BACKGROUND: Febrile seizures (FSs) affect younger children and typically accompany common infectious diseases. The COVID-19 pandemic disrupted pediatric infectious disease patterns, yet how these changes have influenced incidence rates of FS and associated health care resource use after the pandemic remains unknown. METHODS: We conducted a cohort study using a nationwide administrative claims database among children from fiscal year 2013-2023, totaling 5.5 million person-years. We estimated incidence rates of FS, with relevant hospitalization risks, health care costs, and health care resource utilizations using multivariable generalized linear models with direct standardization. Geospatial microsimulation models were used to estimate the national burden of FS over the period. RESULTS: The incidence rate of FS among children aged 6 months to <5 years was stable at 58.6-69.2 cases per 1000 person-years during 2013-2018, fell by 59.9% in 2020, and rose to 71.7 per 1000 person-years in 2023, surpassing prepandemic levels. The incidence rates of FS changed in direct proportion to the community pediatric infectious disease rates, and the seizure-per-infection risks were identical in 2023 to those observed before the COVID-19 pandemic. Microsimulation models estimated 260,000-340,000 FS episodes, 13,000-16,000 hospitalizations, and 10-12 billion Japanese yen in annual costs before the COVID-19 pandemic, halving in 2020 and recovering to 270,000 episodes, 13,000 admissions, and 10.5 billion Japanese yen by 2023. CONCLUSIONS: The postpandemic surge in FS reflects restored infection pressure, not heightened host susceptibility. Responsive pediatric care could be guided by real-time infection surveillance to align clinical capacity and resources with shifting community infection burden.
The Hidden Cost of Developmental and Epileptic Encephalopathy in Australia: Caregiver Quality of Life, Sleep, Depression, and Workforce Participation.
Kim H, Jones A, Lyu J … +1 more , Lee L
Pediatr Neurol · 2026 Jun · PMID 42372416 · Publisher ↗
BACKGROUND: To quantify caregiver burden, sleep quality, health-related quality of life, and work productivity among caregivers of individuals with developmental and epileptic encephalopathies (DEEs) in Australia. METHOD...
BACKGROUND: To quantify caregiver burden, sleep quality, health-related quality of life, and work productivity among caregivers of individuals with developmental and epileptic encephalopathies (DEEs) in Australia. METHODS: A cross-sectional online survey was conducted between June 2024 and March 2025 among primary caregivers of individuals with DEEs living in Australia. Caregivers were recruited through national epilepsy organizations, hospitals, and private practices, and completed the Oberst Caregiving Burden Scale, Work Productivity and Activity Impairment questionnaire, Beck Depression Inventory-II, Pittsburgh Sleep Quality Index, and EQ-5D-5L (EuroQol 5-Dimension 5-Level). Descriptive analyses were performed and associations between EQ-5D-5 L utility and caregiver burden measures were examined. RESULTS: Seventy-five caregivers participated (91.4% mothers; mean age 45.5 years). Mean EQ-5D-5L utility was 0.75 (S.D. 0.26). Depressive symptoms were common (mean Beck Depression Inventory-II 25.23, S.D. 12.71), with 38.5% in the severe range. Sleep disturbance was prominent (mean Pittsburgh Sleep Quality Index 9.71, S.D. 3.52). Among employed caregivers, overall work impairment was high (mean Work Productivity and Activity Impairment 0.75, S.D. 0.23). EQ-5D-5L utility showed negative associations with depressive symptoms, sleep disturbance, caregiving burden, and work impairment. CONCLUSIONS: Caregivers of individuals with DEEs in Australia experience substantial psychological, functional, and economic burden, highlighting the importance of integrating support for caregiver mental health, sleep, and work participation within DEE care pathways.
A Novel Neonatal Brain Injury Score for Infants With Congenital Diaphragmatic Hernia.
Johng S, Goncalves FG, DeMauro SB … +6 more , Hsu JY, Licht DJ, Rintoul N, Hedrick HL, Hoffman C, Vossough A
Pediatr Neurol · 2026 Jun · PMID 42361578 · Publisher ↗
BACKGROUND: Infants with congenital diaphragmatic hernia (CDH) are at increased risk of neuroimaging abnormalities and neurodevelopmental impairment. There is no standardized neuroimaging scoring system in this patient p...
BACKGROUND: Infants with congenital diaphragmatic hernia (CDH) are at increased risk of neuroimaging abnormalities and neurodevelopmental impairment. There is no standardized neuroimaging scoring system in this patient population. Our objective was to develop a novel Neonatal Brain Injury Score (NBIS) and evaluate its association with neurodevelopmental outcomes. METHODS: We conducted a retrospective observational study using data from a quaternary single-center clinical registry. Patients with CDH born between 2013 and 2021 without a chromosomal abnormality were included. The NBIS was developed to capture neuroimaging findings seen in critically ill infants, such as patients with CDH. Neurodevelopment was assessed with the Bayley Scales of Infant and Todder Development, 3rd or 4th editions (Bayley) at a mean age of 20-21 months. Relationships between the NBIS and Bayley scores were assessed at latest follow-up visit using linear regression models and longitudinal follow-up visits using linear mixed models. Models were adjusted for age at brain magnetic resonance imaging, treatment with extracorporeal membrane oxygenation, and CDH severity. RESULTS: Two hundred twenty-three infants met eligibility criteria. The majority (69%) had an abnormal NBIS (median 2 [0, 5]; range 0-29 out of 100). A higher NBIS was associated with lower Bayley scores at the latest follow-up visit and longitudinally over time. CONCLUSIONS: We developed a novel NBIS that was significantly associated with neurodevelopmental outcomes in the CDH population.
Clinical and Functional Severity of Cerebral Palsy in a Tertiary Referral Cohort From Northeast Brazil: Insights From a Middle-Income Country.
Matos MA, Sanches MM, Takenami LI … +2 more , Rodrigues Duarte LP, Goulardins JB
Pediatr Neurol · 2026 Jun · PMID 42348951 · Publisher ↗
BACKGROUND: Cerebral palsy (CP) is the leading cause of childhood motor disability and is characterized by marked clinical and functional heterogeneity. Although most epidemiologic and clinical evidence derives from high...
BACKGROUND: Cerebral palsy (CP) is the leading cause of childhood motor disability and is characterized by marked clinical and functional heterogeneity. Although most epidemiologic and clinical evidence derives from high-income countries, important gaps remain in low- and middle-income settings, where socioeconomic and health care disparities may influence severity patterns and functional outcomes. Understanding how clinical severity manifests in these contexts is essential for prognosis and service planning. METHODS: This retrospective hospital-based study reviewed medical records of 207 children and adolescents with CP followed at a tertiary referral center in Northeast Brazil between 2018 and 2022. Clinical characteristics included motor type and topographic classification. Functional severity was estimated based on age at acquisition of head control, trunk control, and independent walking. Sociodemographic and perinatal variables were collected, and exploratory subgroup analyses were conducted according to prenatal care adequacy, gestational age, birth weight, and history of seizures. RESULTS: Spastic CP was the most prevalent motor type (61.3%), and quadriplegia was the most frequent topographic presentation (63.2%). Prematurity (39.3%) and low birth weight (38.6%) were common. Most participants (74.1%) did not achieve independent walking after 2 years of age, indicating substantial functional impairment. A history of seizures was significantly associated with quadriplegia (P = 0.027). No significant associations were observed between prenatal care adequacy, gestational age, or birth weight and functional severity indicators. CONCLUSIONS: Children and adolescents with CP followed at a tertiary referral center in this middle-income setting showed a high prevalence of severe motor impairment and delayed postural and locomotor milestone acquisition. Rather than identifying novel severity markers, these findings illustrate how well-established indicators cluster within a socially and clinically complex referral population. This context-sensitive characterization may support functional stratification, prognostic assessment, and health service planning in settings with limited population-based data.
Small-Fiber Neuropathy in an Adolescent With Prader-Willi Syndrome.
Englehart S, Obrynba KS, de Los Reyes EC … +1 more , McKinney JL
Pediatr Neurol · 2026 Jun · PMID 42348950 · Publisher ↗
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Research of Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disorders (TAND) in China.
Zheng F, Yu T, Salim Ahmad I … +8 more , Zhao X, Yuan B, Wang F, Lin R, Liao J, Wang H, Wu B, Hu Z
Pediatr Neurol · 2026 Jun · PMID 42335523 · Publisher ↗
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder. Neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders [TAND]) are nearly universal and a key quality of life determinan...
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder. Neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders [TAND]) are nearly universal and a key quality of life determinant but often overlooked. OBJECTIVE: To adapt the validated TAND Checklist to Chinese, describe TAND profiles across age groups in Chinese TSC patients, and compare severity between TSC1 and TSC2 genotypes. METHODS: Cross-sectional study of 311 consecutive patients meeting 2012 International TSC Consensus criteria. Data were collected March-December 2024 at two Chinese tertiary centers. MAIN OUTCOMES AND MEASURES: TAND prevalence and profiles across six domains using the adapted Chinese TAND Checklist. Intellectual disability defined as IQ < 70. RESULTS: No sex differences in TAND prevalence were found. Patients averaged eight behavioral problems; most common were mood swings (67.8%), language impairment/delay (67.5%), and inattention (64.6%). Of 152 with formal IQ testing, 68.4% had intellectual disability. Autism spectrum disorder (22.2%) was the most prevalent psychiatric diagnosis. School-aged children had prominent academic difficulties, especially in mathematics (64.3%). Top concerns were memory problems (56.3%) and family stress (52.7%). Children had more language, self-care, and attention problems and adults had more anxiety and depression. TAND features differed significantly between TSC1 and TSC2 genotypes (P < 0.05). CONCLUSIONS: TAND was pervasive. The adapted Chinese TAND Checklist enabled systematic assessment. TSC2 variants were associated with more severe neuropsychiatric phenotypes. Routine TAND screening and genotype-aware, personalized management are warranted.
Multiecho Resting-State Functional Magnetic Resonance Imaging Analysis of Attention-Deficit/Hyperactivity Disorder Severity and Motor Dysfunction in a Pediatric Sample of Neurofibromatosis Type 1.
Batschelett MA, Migneault KY, Aschbacher-Smith L … +5 more , Cecil KM, Huddleston DA, Gilbert DL, Ratner N, DiFrancesco MW
Pediatr Neurol · 2026 Jun · PMID 42330891 · Publisher ↗
BACKGROUND: Neurofibromatosis type 1 (NF1) is a heterogeneous neurodevelopmental disorder where motor deficits and attention-deficit/hyperactivity disorder (ADHD) occur at higher rates than typical populations. To charac...
BACKGROUND: Neurofibromatosis type 1 (NF1) is a heterogeneous neurodevelopmental disorder where motor deficits and attention-deficit/hyperactivity disorder (ADHD) occur at higher rates than typical populations. To characterize network-level changes associated with these impairments, we compared functional connectivity in youth with NF1 to typically developing controls. In the NF1 cohort, we analyzed relationships between functional connectivity, motor impairment, and ADHD severity. METHODS: Thirty-two participants (16 NF1, 16 typically developing; 8-16 years) underwent resting-state functional magnetic resonance imaging. Seed-to-voxel analyses were conducted for network seeds (sensorimotor, default mode, salience, and dorsal attention). Group differences were tested across brain voxels, and we examined brain-behavior associations within the NF1 group by correlating functional connectivity with motor scores from the Physical and Neurological Examination of Subtle Signs and ADHD severity from the parent-reported ADHD rating scale. RESULTS: Youth with NF1 displayed cortico-cortical hyperconnectivity and cortico-subcortical hypoconnectivity within the sensorimotor network, and hyperconnectivity within and between default mode, dorsal attention, frontoparietal, and visuospatial networks. In youth with NF1, poorer motor performance was associated with reduced cortico-cortical intrasensorimotor and sensorimotor-visuospatial connectivity. Greater inattentive symptoms were linked to decreased default mode-sensorimotor connectivity, increased default mode-visuospatial connectivity, and increased dorsal attention-frontoparietal connectivity. Default mode-sensorimotor/visuospatial hyperconnectivity correlated with worse total ADHD symptoms. CONCLUSIONS: Ineffective integration across default mode, sensorimotor, and visuospatial networks may be linked to motor and attentional phenotypes in NF1 and may serve as a candidate biomarker, pending replication in larger, more heterogeneous samples. We also demonstrate preliminary evidence of compensatory hyperconnectivity in youth with NF1 presenting with co-occurring neurodevelopmental difficulties.
Epidemiologic, Clinical, and Molecular Landscape of Neurofibromatosis Type 1 in Oman: A Study of 211 Individuals.
Al Nabhani HK, Al Shamsi FM, Al Shuaili SS … +8 more , Al-Maawali A, Al-Rashdi MS, Al-Rawahi MS, Al-Harrasi MS, Al Jaradi TS, Al Saegh A, Al Hashmi N, Otaify GA
Pediatr Neurol · 2026 May · PMID 42322690 · Publisher ↗
BACKGROUND: Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by NF1 variants that disrupt neurofibromin regulation of the Ras pathway, increasing tumor risk. Despite the global recognition, data...
BACKGROUND: Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by NF1 variants that disrupt neurofibromin regulation of the Ras pathway, increasing tumor risk. Despite the global recognition, data from the Middle East remain scarce with no large cohorts reported. This study investigates large cohort of NF1 patients in Oman. METHODS: A retrospective study was conducted to analyze the epidemiologic, clinical, and molecular data of NF1 patients followed at Sultan Qaboos University Hospital and Royal Hospital between 2010 and 2024. RESULTS: A total of 211 NF1 patients were selected, 56% sporadic and 46% inherited, and 50% were diagnosed by the age of one year. Family history of NF1 and malignancy significantly correlated. Café-au-lait spots (86.3%) were the most common feature, followed by neurofibromas (41.7%), freckling (26.5%), and Lisch nodules (26%). Plexiform neurofibroma was identified in 19% of patients. Optic gliomas were mostly seen in children (17.5%). Cognitive impairment (20.9%) was significantly associated with seizures (10.4%; P = 0.018). Malignancy was noted in 10.9% of cases, most commonly malignant peripheral nerve sheath tumors (34.8%), followed by breast cancer (17.4%). Hypertension was seen in 5.7%. Among the sixty-seven patients who were genetically tested, 80.5% had NF1 variants, mostly deletions (27.8%), without genotype-phenotype correlation. CONCLUSIONS: This represents the first and largest NF1 cohort report from Oman and the region demonstrating the demographic, phenotypic, and genotypic variability of NF1, emphasizing the consistency of NF1 phenotype globally and addressing the risk of malignancy and other complications. While NF1 is primarily a clinical diagnosis, molecular testing supports diagnostic accuracy, genetic counseling, and prevention, especially with a high percentage of familial cases, and emphasizes the importance of long-term surveillance and multidisciplinary care.
Prognostic Factors and Sex-Specific Differences in Neonatal Hypoxic-Ischemic Encephalopathy Treated With Therapeutic Hypothermia.
Vargas Vaca YA, Bertolotto AM, Navarro E … +2 more , Olaya-C M, Escudero C
Pediatr Neurol · 2026 May · PMID 42320410 · Publisher ↗
BACKGROUND: To identify prognostic determinants of short-term outcomes after neonatal hypoxic-ischemic encephalopathy treated with therapeutic hypothermia, with particular focus on sex-specific differences and the role o...
BACKGROUND: To identify prognostic determinants of short-term outcomes after neonatal hypoxic-ischemic encephalopathy treated with therapeutic hypothermia, with particular focus on sex-specific differences and the role of perinatal sentinel events. METHODS: Retrospective cohort study of newborns with hypoxic-ischemic injury treated with therapeutic hypothermia at a tertiary center. Clinical, perinatal, and electrophysiological variables were analyzed. Outcomes were in-hospital death and poor composite early clinical severity outcome, defined as an unfavorable course with ≥3 complications, including death. Unadjusted and adjusted prevalence ratios were estimated using Poisson regression with robust variance. Model discrimination was assessed using receiver operating characteristic curves. RESULTS: Among 393 newborns, 48 (12.2%) died during hospitalization. No overall sex differences were observed in mortality or complication burden. Higher Sarnat stage, severely abnormal electroencephalography background, seizures, and delayed initiation of hypothermia were independently associated with adverse outcomes. The mortality prediction model showed high discrimination (area under the curve 0.861), and the model for poor composite early clinical severity outcome showed moderate discrimination (area under the curve 0.753). Although females more frequently experienced sentinel obstetric events, sex-stratified analyses demonstrated a lower risk of poor composite early clinical severity outcome among exposed females (adjusted prevalence ratio 0.51; 95% confidence interval 0.29-0.89). CONCLUSIONS: Neurological severity and electroencephalography abnormalities are major predictors of adverse outcomes after hypoxic-ischemic encephalopathy treated with hypothermia. While outcomes were not globally sex-dependent, the interaction between sex and sentinel events suggests sex-specific modulation of vulnerability to intrapartum hypoxia, supporting sex-aware prognostic modeling. However, due to the smaller number of female newborns, the interaction between sex and sentinel events should be interpreted with caution.
Progressive Orexin Deficiency and Age-Dependent Glial and Axonal Biomarkers in juvenile neuronal ceroid lipofuscinosis type 3 (CLN3) Disease.
Wasling P, Blomqvist J, Olsson-Engman M … +1 more , Darin N
Pediatr Neurol · 2026 May · PMID 42314400 · Publisher ↗
BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a rare, childhood-onset neurodegenerative disorder. Biomarkers in cerebrospinal fluid (CSF) and plasma are not well established. This study aimed to c...
BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a rare, childhood-onset neurodegenerative disorder. Biomarkers in cerebrospinal fluid (CSF) and plasma are not well established. This study aimed to characterize biomarker profiles in genetically confirmed CLN3, with emphasis on orexin-A and markers of neurodegeneration. METHODS: In this exploratory cohort study, 11 individuals with CLN3 disease (age 6.8-33.6 years) underwent one or two lumbar punctures with paired blood sampling. CSF and plasma levels of orexin-A, neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), total tau (T-tau), phosphorylated tau, amyloid-beta 42, monoamine metabolites, and markers of inflammation and blood-brain barrier integrity were measured using standardized immunoassays. RESULTS: Longer disease duration was associated with reduced CSF orexin-A in most participants, consistent with an acquired narcolepsy-like phenotype (excessive daytime sleepiness, hallucinations, disrupted sleep). NfL was markedly elevated in CSF and plasma across individuals, indicating ongoing axonal degeneration and supporting its role as a progression biomarker. T-tau was elevated in younger children but normalized in adolescents. GFAP, T-tau, and amyloid-beta 42 were abnormal in a subset, while phosphorylated tau, monoamine metabolites, and markers of inflammation and blood-brain barrier dysfunction were largely within reference ranges. Correlation analyses showed decreasing CSF orexin-A and T-tau and increasing NfL and GFAP, with longer disease duration. CONCLUSIONS: Reduced CSF orexin-A and elevated NfL are key biomarker features in CLN3. Findings support a secondary narcolepsy-like phenotype and highlight these markers as candidates for disease monitoring. Larger longitudinal studies are needed to validate these observations and clarify clinical correlations.
Clinical Characteristics of 389 Pediatric Patients With Neurofibromatosis Type 1 in South China.
Yi M, Zhang G, Zhao X … +3 more , Xia A, Xu J, Chen S
Pediatr Neurol · 2026 May · PMID 42314399 · Publisher ↗
BACKGROUND: This study aimed to describe the clinical manifestations of pediatric patients (aged 0-18 years) with neurofibromatosis type 1 (NF1) diagnosed at our hospital over a 13-year period. METHODS: We conducted a re...
BACKGROUND: This study aimed to describe the clinical manifestations of pediatric patients (aged 0-18 years) with neurofibromatosis type 1 (NF1) diagnosed at our hospital over a 13-year period. METHODS: We conducted a retrospective analysis of pediatric patients with NF1 who presented at Shenzhen Children's hospital between January 2012 and August 2025. Data were retrieved from the hospital's medical record system, including: demographics, clinical manifestations (cutaneous, neurological, and ophthalmologic), plexiform neurofibromas (PNs), magnetic resonance imaging findings, and NF1 genetic testing status. RESULTS: Three hundred and eighty-nine pediatric patients were reviewed. The median age at the time of diagnosis and the last follow-up was 6.1 years (interquartile range 3.2-9.3 years) and 6.7 years (interquartile range: 4.3-10.5), respectively. The most frequent observed characteristics were cafe-au lait macules (99.5%) and freckling (52.4%). PN was detected in 128 patients (32.9%); 57 received treatment. Whole-body magnetic resonance imaging identified PN in 59/117 (50.4%), including 28/86 asymptomatic (32.6%). Optic pathway glioma was observed in 3 (0.8%). Seizures occurred in 11 (2.8%). Lisch nodules were identified in 117 (30.1%). Orthopedic manifestations included scoliosis (48, 12.3%), other bone lesions (66, 17.0%), and pseudarthrosis (17, 4.4%). CONCLUSIONS: The data in this report are largely in agreement with previously published series of children with NF1. Whole-body magnetic resonance imaging detected subclinical PN in 32.6% of asymptomatic patients, supporting its potential as a screening tool. Additionally, the prevalence of optic pathway glioma in our Asian cohort was lower than previously reported in non-Asian populations, suggesting potential regional differences in the phenotypic spectrum of NF1. These findings warrant validation in larger, independent cohorts.
Value-Based Care for Acute Pediatric Seizure Management: Operational Models, Quality Metrics, Barriers, and Financial Strategy.
Lustig MC
Pediatr Neurol · 2026 May · PMID 42314398 · Publisher ↗
Acute pediatric seizure care spans the emergency department, inpatient ward, intensive care unit, and early outpatient follow-up, and it shapes throughput, admission decisions, neurodiagnostic use, discharge reliability,...
Acute pediatric seizure care spans the emergency department, inpatient ward, intensive care unit, and early outpatient follow-up, and it shapes throughput, admission decisions, neurodiagnostic use, discharge reliability, and downstream utilization. The literature on value in pediatric neurology remains limited, and broad operational frameworks risk drifting toward speculation unless they are anchored to common, measurable clinical problems. Acute seizure care is the clearest current example; it is high-volume, resource-intensive, time-sensitive, and supported by a maturing literature on quality measures, pathway redesign, diagnostic stewardship, patient-reported outcomes, and access barriers. This topical review describes a framework in which value is created through five process levers - timely specialist evaluation, protocolized acute management, diagnostic stewardship, reliable discharge and transition planning, and structured outcome measurement - and assessed across the following four outcome domains: clinical, patient and family, operational, and financial. The review also addresses common barriers to implementation, including insurance constraints, limited outpatient electroencephalography and magnetic resonance imaging capacity, magnetic resonance imaging sedation bottlenecks, delayed neurology follow-up, referral failures, workforce turnover, and inequitable access after discharge. Finally, the review proposes an implementation roadmap anchored to the Consolidated Framework for Implementation Research and outlines how the same analytic approach may later be adapted to other inpatient pediatric neurology presentations.
Natalizumab Escalation Early in the Disease Course of Pediatric-Onset Multiple Sclerosis: Two Japanese Cases.
Akiba N, Irie KI, Yamanaka H … +6 more , Hashimoto S, Imai T, Harada M, Mori S, Hoshino T, Tateishi T
Pediatr Neurol · 2026 May · PMID 42269481 · Publisher ↗
BACKGROUND: Pediatric-onset multiple sclerosis is characterized by high inflammatory disease activity. Although high-efficacy therapies are effective, the optimal timing and clinical markers for escalation remain to be f...
BACKGROUND: Pediatric-onset multiple sclerosis is characterized by high inflammatory disease activity. Although high-efficacy therapies are effective, the optimal timing and clinical markers for escalation remain to be fully established, particularly in Asian populations. METHODS: We report two Japanese children with pediatric-onset multiple sclerosis who presented with distinct clinical courses but shared poor prognostic features. Both patients underwent integrated assessments using advanced brain magnetic resonance imaging metrics, including the central vein sign, double inversion recovery imaging, and corpus callosum index. RESULTS: Patient 1, a 14-year-old boy, exhibited a rapidly progressive course involving the brainstem and cerebellum, resulting in severe neurological disability (peak Expanded Disability Status Scale score 9.0) refractory to standard acute immunotherapies. Patient 2, a 13-year-old girl, initially presented with a first demyelinating episode consistent with clinically isolated syndrome, followed by a clinical relapse with radiologic progression that fulfilled the 2024 revised McDonald criteria for multiple sclerosis. In both cases, the presence of central vein sign-positive lesions and the corpus callosum index findings were interpreted as supportive features of disease severity, although pediatric thresholds and clinical actionability remain unvalidated. Natalizumab with extended-interval dosing was followed by sustained clinical and radiologic stability over a 2-year follow-up. CONCLUSIONS: These cases illustrate that natalizumab may be a reasonable option early in the disease course for selected pediatric patients with aggressive clinicoradiologic features.
Defining a Novel 8q22.3 Microdeletion Syndrome Caused by UBR5 Haploinsufficiency.
Amin S, Garcia Rossi A, Sen K
Pediatr Neurol · 2026 May · PMID 42263457 · Publisher ↗
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When Subacute Sclerosing Panencephalitis Masquerades as Autoimmune Encephalitis: Diagnostic Challenges, Counterproductive Therapy, and Twin Discordance.
Badawy RAB, Zakkariah M, Haraz KMM … +2 more , Mohammed AOM, Alenezi SH
Pediatr Neurol · 2026 May · PMID 42259188 · Publisher ↗
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Reliability of the Telehealth Hammersmith Infant Neurological Examination at 24 Months: A Prospective Counterbalanced Observational Study.
Baduni K, Marra LR, He Z … +6 more , Kjeldsen WC, Kempfert R, de Voest JA, Denbo JE, Backes CH, Maitre NL
Pediatr Neurol · 2026 May · PMID 42259187 · Publisher ↗
BACKGROUND: The Hammersmith Infant Neurological Examination (HINE) is a standardized assessment used in high-risk infant follow-up to monitor neurodevelopmental concerns. Access barriers have accelerated telehealth use d...
BACKGROUND: The Hammersmith Infant Neurological Examination (HINE) is a standardized assessment used in high-risk infant follow-up to monitor neurodevelopmental concerns. Access barriers have accelerated telehealth use despite the absence of validation for remote HINE administration. This study evaluated reliability and clinical agreement of protocolized telehealth HINE compared with in-person assessment in term-born children aged 22-24 months. METHODS: Using a counterbalanced within-subjects design, 65 children completed two same-day HINE assessments in randomized order: in-person examination performed by a certified examiner (parents absent for blinding), and telehealth examination where a different examiner remotely guided the parent via videoconferencing while scoring in real time. Examiners were blinded to each other's scores. Agreement was assessed using intraclass correlation coefficient and Bland-Altman analysis, with a priori acceptable disagreement defined as ≤7.8 points (≤10% maximum score). Preservation of clinical classifications (total HINE ≤65; asymmetry ≥4) was evaluated. RESULTS: Mean differences in total, domain, and asymmetry scores were below the prespecified threshold, with minimal bias (-0.15 points) and no difference in total score exceeding six points. Total score reliability was acceptable (intraclass correlation coefficient = 0.68) despite restricted variance (mean 75.0, S.D. 3.4; maximum 78). Both modalities preserved clinical classification, identifying the same children with total HINE ≤65 and asymmetry ≥4. CONCLUSIONS: Telehealth HINE with real-time expert guidance demonstrates clinically acceptable agreement for neurologic surveillance at 24 months in term-born children when in-person follow-up is limited. Validation in younger, higher-risk cohorts with greater score variability is needed before broader diagnostic or triage use.
Association of Race and Ethnicity With Computed Tomography Head Utilization in Children Presenting to the Emergency Department With an Unprovoked Seizure.
Kannikeswaran N, Sivaswamy L, Przyklenk K … +1 more , Fairman KA
Pediatr Neurol · 2026 May · PMID 42241796 · Publisher ↗
BACKGROUND: Although not routinely recommended, computed tomography (CT) head are frequently performed in children presenting to emergency department (ED) with seizures. Racial and ethnic disparities have been reported i...
BACKGROUND: Although not routinely recommended, computed tomography (CT) head are frequently performed in children presenting to emergency department (ED) with seizures. Racial and ethnic disparities have been reported in pediatric ED imaging. Our objective was to evaluate the association of demographic factors, including race and ethnicity, with CT head utilization in children presenting to ED with an unprovoked seizure. METHODS: We conducted a retrospective cross-sectional analysis of the National Hospital Ambulatory Medical Care Survey from 2016 to 2022, including ED visits by patients ≤18 years of age whose first three listed reason-for-visit or diagnosis codes indicated epilepsy or unspecified convulsions. We collected patient demographics, CT head utilization and disposition. Complex samples-adjusted analyses included Pearson chi-square tests and multivariable logistic regression. RESULTS: A total of 479 visits (weighted N = 3,936,090) met inclusion criteria. Majority was female (52.0%), publicly insured (62.9%), and non-Hispanic White (45.7%). CT head was performed in 23.6% of visits. CT utilization was higher among adolescents (38.8%). Adolescents had significantly higher odds of CT utilization compared with preschool and school-aged children (odds ratio: 3.28; 95% confidence interval: 1.87-5.74). No significant association was found between race/ethnicity and CT utilization in either bivariate or multivariate analysis. CONCLUSIONS: In this nationally representative sample, CT head was performed in 23.6% of ED visits for unprovoked seizures. Age was associated with differences in CT utilization. No racial or ethnic disparities in CT utilization were observed. However, as multivariable estimates for race and ethnicity did not meet National Center for Health Statistics statistical reliability standards, these findings must be interpreted with caution.
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