Pub Date : 2025-10-30DOI: 10.1016/j.pediatrneurol.2025.10.023
Judith S. Miller PhD , Cristan Farmer PhD , Susan Blair MS, PT , Simona Bianconi MD , Natacha Akshoomoff PhD , Irina Anselm MD , Bruce A. Barshop MD, PhD , Lindsey Becker BS , Amanda E. Bennett MD, MPH , Leandra N. Berry PhD , Elizabeth M. Berry-Kravis MD, PhD , Aleksandra Bruchey PhD , Anna W. Byars PhD , Tricia Cimms MPH , Kim M. Cecil PhD , Maxine Covello BS , Laura S. Cubit PhD , Tanvi Das PhD , Robert J. Davis PharmD , Madison Drye BS , Audrey Thurm PhD
Background
The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).
Methods
Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, and challenging behaviors and the onset and progression of medical comorbidities.
Results
Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, gastrointestinal symptoms, and growth failure. All participants learned how to walk, 78% developed at least some verbal speech, and 34% communicated using phrases or sentences. Norm-referenced neurodevelopment assessments indicated declining standardized scores over time; however, absolute scores (i.e., age equivalent person ability scores) indicated that developmental gains were slower than average, particularly among older participants. Between-person differences in neurodevelopmental skills as a function of age did not match within-person change, suggesting a cohort effect.
Conclusions
In this cohort, CTD was associated with significant and persistent intellectual disability. The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development.
{"title":"Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study","authors":"Judith S. Miller PhD , Cristan Farmer PhD , Susan Blair MS, PT , Simona Bianconi MD , Natacha Akshoomoff PhD , Irina Anselm MD , Bruce A. Barshop MD, PhD , Lindsey Becker BS , Amanda E. Bennett MD, MPH , Leandra N. Berry PhD , Elizabeth M. Berry-Kravis MD, PhD , Aleksandra Bruchey PhD , Anna W. Byars PhD , Tricia Cimms MPH , Kim M. Cecil PhD , Maxine Covello BS , Laura S. Cubit PhD , Tanvi Das PhD , Robert J. Davis PharmD , Madison Drye BS , Audrey Thurm PhD","doi":"10.1016/j.pediatrneurol.2025.10.023","DOIUrl":"10.1016/j.pediatrneurol.2025.10.023","url":null,"abstract":"<div><h3>Background</h3><div>The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).</div></div><div><h3>Methods</h3><div>Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, and challenging behaviors and the onset and progression of medical comorbidities.</div></div><div><h3>Results</h3><div>Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, gastrointestinal symptoms, and growth failure. All participants learned how to walk, 78% developed at least some verbal speech, and 34% communicated using phrases or sentences. Norm-referenced neurodevelopment assessments indicated declining standardized scores over time; however, absolute scores (i.e., age equivalent person ability scores) indicated that developmental gains were slower than average, particularly among older participants. Between-person differences in neurodevelopmental skills as a function of age did not match within-person change, suggesting a cohort effect.</div></div><div><h3>Conclusions</h3><div>In this cohort, CTD was associated with significant and persistent intellectual disability. The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 8-18"},"PeriodicalIF":2.1,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-30DOI: 10.1016/j.pediatrneurol.2025.10.022
Christian Surí-Báez MD, MPH , Han Jun Kim MD , Janice Lester MLS , Robin T. Varughese MD , Sanjeev V. Kothare MD
New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the “gold standard” for management of the acute phase, consensus guidelines do establish interleukin therapies such as anakinra and tocilizumab as safe and effective second-line immunotherapeutic options. Despite the use of interleukin therapies, many patients continue to have super refractory status epilepticus. A number of publications (mainly case reports and case series) have described various adjunctive therapies in the management of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome, including neuromodulatory therapies (such as vagal nerve stimulation, deep brain stimulation, and electroconvulsive therapy), surgical resection, noninterleukin immunotherapies (such as intrathecal dexamethasone, intravenous rituximab, and cyclophosphamide), infusions (such as lidocaine and magnesium), and anesthetic agents (such as sevoflurane). Utilizing a modified Preferred Reporting Items for Systematic reviews and Meta-Analyses approach, this narrative review summarizes the effectiveness and safety of second-line immunotherapies such as tocilizumab and anakinra, as well as the various adjunctive third-line therapies that aim to abort seizures and mitigate comorbidities within an intensive care setting, such as prolonged sedation and secondary systemic complications.
{"title":"Beyond Anakinra and Tocilizumab: Additional Adjunctive Therapies in Pediatric New Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome – A Narrative Review","authors":"Christian Surí-Báez MD, MPH , Han Jun Kim MD , Janice Lester MLS , Robin T. Varughese MD , Sanjeev V. Kothare MD","doi":"10.1016/j.pediatrneurol.2025.10.022","DOIUrl":"10.1016/j.pediatrneurol.2025.10.022","url":null,"abstract":"<div><div>New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the “gold standard” for management of the acute phase, consensus guidelines do establish interleukin therapies such as anakinra and tocilizumab as safe and effective second-line immunotherapeutic options. Despite the use of interleukin therapies, many patients continue to have super refractory status epilepticus. A number of publications (mainly case reports and case series) have described various adjunctive therapies in the management of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome, including neuromodulatory therapies (such as vagal nerve stimulation, deep brain stimulation, and electroconvulsive therapy), surgical resection, noninterleukin immunotherapies (such as intrathecal dexamethasone, intravenous rituximab, and cyclophosphamide), infusions (such as lidocaine and magnesium), and anesthetic agents (such as sevoflurane). Utilizing a modified Preferred Reporting Items for Systematic reviews and Meta-Analyses approach, this narrative review summarizes the effectiveness and safety of second-line immunotherapies such as tocilizumab and anakinra, as well as the various adjunctive third-line therapies that aim to abort seizures and mitigate comorbidities within an intensive care setting, such as prolonged sedation and secondary systemic complications.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 27-39"},"PeriodicalIF":2.1,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145564700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-25DOI: 10.1016/j.pediatrneurol.2025.10.014
Rachna Vipparla , Barbara Storch PhD , Vitória Penido de Paula MD , Naila Makhani MD, MPH , Areti Vassilopoulos PhD
Background
Children and adolescents with neurological diagnoses are more susceptible to experiencing depressive symptoms than their healthy peers. Research to date has found an increase in depressive symptoms among youth during the COVID-19 pandemic, but the impact on youth with neurological conditions has not been directly evaluated.
Methods
This study utilized retrospective data from individuals (n = 1,312) aged 12-21 years to evaluate changes in self-reported depressive symptoms on the Patient Health Questionnaire (Patient Health Questionnaire 2-item and Patient Health Questionnaire 9-item [PHQ-9]) before and after the onset of the COVID-19 pandemic (between March 2018 and March 2022).
Results
The total sample did not exhibit significant differences in depression scores across Patient Health Questionnaire 2-item and PHQ-9 prepandemic and postpandemic onset. However, a significant difference in nonzero PHQ-9 scores was observed in pediatric patients with epilepsy, indicating a shift from minimal to mild depressive symptoms from prepandemic (Mean = 1.69) to postpandemic (Mean = 6.09) onset (P = 0.040). Additional subgroups, including those with neurodevelopmental, psychological, and chronic pain conditions, displayed notable increases in symptom severity based on nonzero scores.
Conclusions
The findings in this study emphasize the need for increased mental health support within pediatric neurology, with a focus on patients with epilepsy. This future research will help attend to and prevent challenges faced by this group of patients when presented with future environmental and social disruptions analogous to the pandemics.
{"title":"Prepandemic and Postpandemic: How COVID-19 Pandemic Affected Depression Symptoms in Youth With Epilepsy and Other Neurological Conditions","authors":"Rachna Vipparla , Barbara Storch PhD , Vitória Penido de Paula MD , Naila Makhani MD, MPH , Areti Vassilopoulos PhD","doi":"10.1016/j.pediatrneurol.2025.10.014","DOIUrl":"10.1016/j.pediatrneurol.2025.10.014","url":null,"abstract":"<div><h3>Background</h3><div>Children and adolescents with neurological diagnoses are more susceptible to experiencing depressive symptoms than their healthy peers. Research to date has found an increase in depressive symptoms among youth during the COVID-19 pandemic, but the impact on youth with neurological conditions has not been directly evaluated.</div></div><div><h3>Methods</h3><div>This study utilized retrospective data from individuals (<em>n</em> = 1,312) aged 12-21 years to evaluate changes in self-reported depressive symptoms on the Patient Health Questionnaire (Patient Health Questionnaire 2-item and Patient Health Questionnaire 9-item [PHQ-9]) before and after the onset of the COVID-19 pandemic (between March 2018 and March 2022).</div></div><div><h3>Results</h3><div>The total sample did not exhibit significant differences in depression scores across Patient Health Questionnaire 2-item and PHQ-9 prepandemic and postpandemic onset. However, a significant difference in nonzero PHQ-9 scores was observed in pediatric patients with epilepsy, indicating a shift from minimal to mild depressive symptoms from prepandemic (<em>Mean</em> = 1.69) to postpandemic (<em>Mean</em> = 6.09) onset (<em>P</em> = 0.040). Additional subgroups, including those with neurodevelopmental, psychological, and chronic pain conditions, displayed notable increases in symptom severity based on nonzero scores.</div></div><div><h3>Conclusions</h3><div>The findings in this study emphasize the need for increased mental health support within pediatric neurology, with a focus on patients with epilepsy. This future research will help attend to and prevent challenges faced by this group of patients when presented with future environmental and social disruptions analogous to the pandemics.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 135-139"},"PeriodicalIF":2.1,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neurological conditions account for more than 20% of disease-related morbidity worldwide. Many of those affected by neurological conditions live in Africa, but there are limited descriptions of their prevalence.
Methods
We conducted a descriptive study of all patients aged 3 months to 18 years who were evaluated in the pediatric neurology clinic between January 2020 and December 2023. The data, collected by review of the patients' medical records by the principal investigator, included age, gender, medical history, examination findings, diagnosis, and treatment. Data were analyzed with the Statistical Package for Social Sciences (version 21) software using descriptive statistics.
Results
During the study period, 4,130 patients had pediatric consultations at Douala Gyneco-Obstetric and Pediatric Hospital, of which 1,111 (26.9%) were seen in the pediatric neurology clinic for evaluation of pediatric neurological disorders. A total of 854 patients met our inclusion criteria and were included in the study. The most common conditions were epilepsy (43.4%), cerebral palsy (31.3%), and autism spectrum disorders (13.9%). Regarding the therapeutic itinerary, most patients opted first for traditional practitioners (49.6%), while a smaller proportion (34.2%) chose conventional medicine as the first treatment option.
Conclusions
Pediatric neurological disorders account for a quarter of pediatric consultations at the Douala Gyneco-Obstetric and Pediatric Hospital, with the most common diagnoses being epilepsy and cerebral palsy. This may help in defining priorities, especially as far as rehabilitation, training and resources allocation are concerned.
{"title":"Clinical Profile of Pediatric Neurological Disorders at the Douala Gyneco-Obstetric and Pediatric Hospital in Cameroon","authors":"Dominique Enyama MD , Diomède Noukeu Njinkui MD , Maturin Florian Kengni Tefeu MD , Jeanne Mayouego Kouam MD , Daniel Armand Kago Tague MD , Arielle Annick Sime Tchouamo MD , Séraphin Nguefack MD","doi":"10.1016/j.pediatrneurol.2025.10.017","DOIUrl":"10.1016/j.pediatrneurol.2025.10.017","url":null,"abstract":"<div><h3>Background</h3><div>Neurological conditions account for more than 20% of disease-related morbidity worldwide. Many of those affected by neurological conditions live in Africa, but there are limited descriptions of their prevalence.</div></div><div><h3>Methods</h3><div>We conducted a descriptive study of all patients aged 3 months to 18 years who were evaluated in the pediatric neurology clinic between January 2020 and December 2023. The data, collected by review of the patients' medical records by the principal investigator, included age, gender, medical history, examination findings, diagnosis, and treatment. Data were analyzed with the Statistical Package for Social Sciences (version 21) software using descriptive statistics.</div></div><div><h3>Results</h3><div>During the study period, 4,130 patients had pediatric consultations at Douala Gyneco-Obstetric and Pediatric Hospital, of which 1,111 (26.9%) were seen in the pediatric neurology clinic for evaluation of pediatric neurological disorders. A total of 854 patients met our inclusion criteria and were included in the study. The most common conditions were epilepsy (43.4%), cerebral palsy (31.3%), and autism spectrum disorders (13.9%). Regarding the therapeutic itinerary, most patients opted first for traditional practitioners (49.6%), while a smaller proportion (34.2%) chose conventional medicine as the first treatment option.</div></div><div><h3>Conclusions</h3><div>Pediatric neurological disorders account for a quarter of pediatric consultations at the Douala Gyneco-Obstetric and Pediatric Hospital, with the most common diagnoses being epilepsy and cerebral palsy. This may help in defining priorities, especially as far as rehabilitation, training and resources allocation are concerned.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 119-125"},"PeriodicalIF":2.1,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-24DOI: 10.1016/j.pediatrneurol.2025.10.013
Elena González-Alguacil MD, J. Jose García Peñas MD, Nuria Lamagrande Casanova MD, Elsa Maria Santana Cabrera MD, Anna Duat Rodríguez PhD, Víctor Soto Insuga PhD
Background
To assess the efficacy and safety of adjunctive cannabidiol (CBD) in children with drug-resistant epileptic spasms (ES) beyond age 2 years.
Methods
We conducted a retrospective longitudinal study of patients with childhood epileptic spasms (CESs) treated with purified CBD (Epidyolex) at Niño Jesus Hospital in Madrid, Spain, from 2020 to 2024. All patients were older than 2 years and had drug-resistant epilepsy and ES as the primary seizure type. Efficacy was assessed by comparing ES frequency before and after CBD treatment, with a good response defined as a ≥50% reduction in ES. Adverse effects (AEs) were recorded to assess safety and tolerability.
Results
Of the 53 patients included, 58.5% achieved a ≥50% reduction in ES frequency, 15% of whom attained complete freedom from ES. Patients with malformations of cortical development and Down syndrome showed the highest response rates. Clobazam was the most frequently associated medication (77.3%), indicating a potential synergistic effect. AEs were reported in 62.2% of patients, with drowsiness, hyperammonemia, and behavioral disturbances being the most common. CBD was discontinued in 17% due to lack of efficacy and in 11.3% due to AEs.
Conclusions
CBD appears to be an effective and well-tolerated adjunctive treatment for drug-resistant ES in children older than 2 years. Significant response rates were found, particularly in patients with Down syndrome and malformations of cortical development. Future studies with larger cohorts and longer follow-up are needed to validate these findings and explore the potential for earlier use of CBD in treatment-resistant epilepsy.
{"title":"Cannabidiol as Adjunctive Treatment in Drug-Resistant Epilepsy With Epileptic Spasms Beyond Two Years of Age","authors":"Elena González-Alguacil MD, J. Jose García Peñas MD, Nuria Lamagrande Casanova MD, Elsa Maria Santana Cabrera MD, Anna Duat Rodríguez PhD, Víctor Soto Insuga PhD","doi":"10.1016/j.pediatrneurol.2025.10.013","DOIUrl":"10.1016/j.pediatrneurol.2025.10.013","url":null,"abstract":"<div><h3>Background</h3><div>To assess the efficacy and safety of adjunctive cannabidiol (CBD) in children with drug-resistant epileptic spasms (ES) beyond age 2 years.</div></div><div><h3>Methods</h3><div>We conducted a retrospective longitudinal study of patients with childhood epileptic spasms (CESs) treated with purified CBD (Epidyolex) at Niño Jesus Hospital in Madrid, Spain, from 2020 to 2024. All patients were older than 2 years and had drug-resistant epilepsy and ES as the primary seizure type. Efficacy was assessed by comparing ES frequency before and after CBD treatment, with a good response defined as a ≥50% reduction in ES. Adverse effects (AEs) were recorded to assess safety and tolerability.</div></div><div><h3>Results</h3><div>Of the 53 patients included, 58.5% achieved a ≥50% reduction in ES frequency, 15% of whom attained complete freedom from ES. Patients with malformations of cortical development and Down syndrome showed the highest response rates. Clobazam was the most frequently associated medication (77.3%), indicating a potential synergistic effect. AEs were reported in 62.2% of patients, with drowsiness, hyperammonemia, and behavioral disturbances being the most common. CBD was discontinued in 17% due to lack of efficacy and in 11.3% due to AEs.</div></div><div><h3>Conclusions</h3><div>CBD appears to be an effective and well-tolerated adjunctive treatment for drug-resistant ES in children older than 2 years. Significant response rates were found, particularly in patients with Down syndrome and malformations of cortical development. Future studies with larger cohorts and longer follow-up are needed to validate these findings and explore the potential for earlier use of CBD in treatment-resistant epilepsy.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 81-85"},"PeriodicalIF":2.1,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145459190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<div><h3>Background</h3><div>Recently, mycoplasma pneumoniae pneumonia (MPP) has been prevalent among children in China. Literature on the clinical manifestations and neuroradiological findings in pediatric patients with MPP-associated arterial ischemic stroke (AIS) is scarce. This study aimed to describe the clinical characteristics, laboratory and neuroimaging data on pediatric MPP-associated AIS.</div></div><div><h3>Methods</h3><div>This is a single-center retrospective cohort study (COIST study) conducted in Beijing Children's Hospital, consisting of 380 patients with first-ever, imaging-verified ischemic stroke between September 2015 and April 2024. Following rigorous diagnostic protocols, the underlying cause of AIS was definitively determined as mycoplasma pneumoniae infection in a subset of 14 children. A descriptive statistical approach was employed to encapsulate the clinical manifestations, laboratory findings, and neuroradiological characteristics observed in this cohort. The severity of stroke was systematically evaluated using the pediatric National Institutes of Health Stroke Scale, whereas the stroke outcome was assessed with a dual methodology: the pediatric stroke outcome measure and the modified Rankin Scales.</div></div><div><h3>Results</h3><div>A total of 14 children with MPP-associated AIS were enrolled, comprising 8 males (57.14%), with a median age of 6.70 years (interquartile range: 5.12-9.08 years). The incidence of AIS among all hospitalized MPP patients stood at 1.1‰, accounting for 3.68% of all childhood AISs. Notably 12 of the 14 patients exhibited severe MPP. Regarding cerebrospinal fluid analysis, the occurrence of pleocytosis was rarely noted, and the detection of antibodies to mycoplasma pneumoniae within the cerebrospinal fluid was equally rare. The primary neurological manifestations were hemiplegia and facial paralysis, both observed in 78.57% of patients (n = 11). In addition, disturbance of consciousness and aphasia were frequent symptoms, each present in 57.14% of cases (n = 8). Anterior circulation infarcts were the most prevalent, occurring in 78.57% of patients (n = 11), and vascular occlusion was noted in 9 of 14 patients (64.29%). Multiple infarctions were identified in 8 patients (57.14%), while 4 patients (28.57%) experienced bilateral infarctions. The middle cerebral artery was the most commonly affected vascular territory, affected in 50.00% of patients (n = 7), followed by the internal carotid artery and anterior cerebral artery, each affected in 21.43% of cases (n = 3). Hemorrhagic transformation occurred in half of the patients. Regarding treatment, 50% of patients (n = 7) received low molecular weight heparin (LMWH) monotherapy, while 2 patients were treated with both LMWH and aspirin, one with LMWH and dipyridamole, and one with aspirin monotherapy. Despite the onset-to-door time being mostly ≤6 hours, a poor outcome was experienced by 71.43% of patients, with a median pediatric National Insti
{"title":"Mycoplasma Pneumoniae-Associated Arterial Ischemic Stroke in Pediatric Patients: Clinical Manifestations and Neuroimaging Findings","authors":"Zemou Yu PhD , Lingbing Meng PhD , Jingjing Jia PhD , Weihua Zhang MD , Hui Xiong MD , Fang Fang MD , Jiuwei Li MD , Xiuwei Zhuo MD","doi":"10.1016/j.pediatrneurol.2025.10.016","DOIUrl":"10.1016/j.pediatrneurol.2025.10.016","url":null,"abstract":"<div><h3>Background</h3><div>Recently, mycoplasma pneumoniae pneumonia (MPP) has been prevalent among children in China. Literature on the clinical manifestations and neuroradiological findings in pediatric patients with MPP-associated arterial ischemic stroke (AIS) is scarce. This study aimed to describe the clinical characteristics, laboratory and neuroimaging data on pediatric MPP-associated AIS.</div></div><div><h3>Methods</h3><div>This is a single-center retrospective cohort study (COIST study) conducted in Beijing Children's Hospital, consisting of 380 patients with first-ever, imaging-verified ischemic stroke between September 2015 and April 2024. Following rigorous diagnostic protocols, the underlying cause of AIS was definitively determined as mycoplasma pneumoniae infection in a subset of 14 children. A descriptive statistical approach was employed to encapsulate the clinical manifestations, laboratory findings, and neuroradiological characteristics observed in this cohort. The severity of stroke was systematically evaluated using the pediatric National Institutes of Health Stroke Scale, whereas the stroke outcome was assessed with a dual methodology: the pediatric stroke outcome measure and the modified Rankin Scales.</div></div><div><h3>Results</h3><div>A total of 14 children with MPP-associated AIS were enrolled, comprising 8 males (57.14%), with a median age of 6.70 years (interquartile range: 5.12-9.08 years). The incidence of AIS among all hospitalized MPP patients stood at 1.1‰, accounting for 3.68% of all childhood AISs. Notably 12 of the 14 patients exhibited severe MPP. Regarding cerebrospinal fluid analysis, the occurrence of pleocytosis was rarely noted, and the detection of antibodies to mycoplasma pneumoniae within the cerebrospinal fluid was equally rare. The primary neurological manifestations were hemiplegia and facial paralysis, both observed in 78.57% of patients (n = 11). In addition, disturbance of consciousness and aphasia were frequent symptoms, each present in 57.14% of cases (n = 8). Anterior circulation infarcts were the most prevalent, occurring in 78.57% of patients (n = 11), and vascular occlusion was noted in 9 of 14 patients (64.29%). Multiple infarctions were identified in 8 patients (57.14%), while 4 patients (28.57%) experienced bilateral infarctions. The middle cerebral artery was the most commonly affected vascular territory, affected in 50.00% of patients (n = 7), followed by the internal carotid artery and anterior cerebral artery, each affected in 21.43% of cases (n = 3). Hemorrhagic transformation occurred in half of the patients. Regarding treatment, 50% of patients (n = 7) received low molecular weight heparin (LMWH) monotherapy, while 2 patients were treated with both LMWH and aspirin, one with LMWH and dipyridamole, and one with aspirin monotherapy. Despite the onset-to-door time being mostly ≤6 hours, a poor outcome was experienced by 71.43% of patients, with a median pediatric National Insti","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 58-66"},"PeriodicalIF":2.1,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145571145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-23DOI: 10.1016/j.pediatrneurol.2025.10.018
Grant L. Lin MD, PhD , Lauren Treat MD
Background
Child neurologists provide care for children with complex chronic health conditions often accompanied by logistical and emotional complexities, as well as acute decision-making scenarios. Pediatric neuropalliative medicine is a nascent subspecialty that aims to augment standard child neurology practice by attending to not only the physical domains of neurologic disease but also the nonphysical issues that accompany advancing illness. The perceptions of clinicians who refer families for this kind of care have not previously been elucidated.
Methods
This survey project queried referrers to a newly established pediatric neuropalliative medicine clinic to characterize their perceptions, including barriers and facilitators of referral and the impact of this service line on clinicians. Specifically, the authors sought to understand whether neurologists viewed this clinic differently than other referring clinicians.
Results
A total of 94 surveys were completed, with 22% (n = 21) of respondents being neurology clinicians and 78% (n = 73) representing other pediatric specialties. Neurology clinicians were significantly more likely to report a preference for a neurologist in the palliative medicine role (76% of neurologists vs 16% of non-neurologists, P < 0.001). While all referrers identified at least one benefit of referral to this clinic, neurologists were more likely to report that this new resource positively impacted their understanding of palliative medicine and their ability to devote more energy to their area of focus.
Conclusions
Pediatric neuropalliative expertise is valued by referring clinicians, with the greatest impact described by neurologists. Referrers noted benefit to patient care as well as enhancement in professional domains.
{"title":"Impacts of a Novel Pediatric Neuropalliative Medicine Clinic: Characterization of Referrer Feedback","authors":"Grant L. Lin MD, PhD , Lauren Treat MD","doi":"10.1016/j.pediatrneurol.2025.10.018","DOIUrl":"10.1016/j.pediatrneurol.2025.10.018","url":null,"abstract":"<div><h3>Background</h3><div>Child neurologists provide care for children with complex chronic health conditions often accompanied by logistical and emotional complexities, as well as acute decision-making scenarios. Pediatric neuropalliative medicine is a nascent subspecialty that aims to augment standard child neurology practice by attending to not only the physical domains of neurologic disease but also the nonphysical issues that accompany advancing illness. The perceptions of clinicians who refer families for this kind of care have not previously been elucidated.</div></div><div><h3>Methods</h3><div>This survey project queried referrers to a newly established pediatric neuropalliative medicine clinic to characterize their perceptions, including barriers and facilitators of referral and the impact of this service line on clinicians. Specifically, the authors sought to understand whether neurologists viewed this clinic differently than other referring clinicians.</div></div><div><h3>Results</h3><div>A total of 94 surveys were completed, with 22% (n = 21) of respondents being neurology clinicians and 78% (n = 73) representing other pediatric specialties. Neurology clinicians were significantly more likely to report a preference for a neurologist in the palliative medicine role (76% of neurologists vs 16% of non-neurologists, <em>P</em> < 0.001). While all referrers identified at least one benefit of referral to this clinic, neurologists were more likely to report that this new resource positively impacted their understanding of palliative medicine and their ability to devote more energy to their area of focus.</div></div><div><h3>Conclusions</h3><div>Pediatric neuropalliative expertise is valued by referring clinicians, with the greatest impact described by neurologists. Referrers noted benefit to patient care as well as enhancement in professional domains.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 140-146"},"PeriodicalIF":2.1,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145517803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study discusses results of multimodal evaluation of biomarkers of neuroinflammation and neurodegeneration in cerebrospinal fluid (CSF) and Fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) findings in Subacute sclerosing panencephalitis (SSPE).
Methods
Consecutive children (3-14 years) with SSPE fulfilling the Dyken criteria during the study period (2020-2022) were enrolled. Clinical profile, radiological and electroencephalography data were chronicled. CSF interleukins (ILs) IL-4, IL-6, and IL-10; interferon-gamma; and neurofilament heavy chain (NFH) levels were analysed and compared with age matched pseudo-controls. 18F-FDG-PET imaging was performed in a subset of children who consented for the same.
Results
Thirty-three children with SSPE were enrolled [mean age 8.06 ± 2.67 years; males: 82%; Jabbour Stage I-6%, Stage II-67%, Stage III-27%]. Two forms of presentation were seen: short/absent stage I with early onset myoclonic jerks (N = 22; mean age of onset 7.85 ± 2.45) and prolonged stage I with late onset epilepsy (N = 11; mean age 6 ± 1.9 years, P = 0.03). CSF NFH was significantly elevated in SSPE [132.62 (53.6-388.9) vs 0.0 (0-16.9) pg/ml; P = 0.0001] compared to the pseudo-controls. CSF IL-6 (pg/ml) in 21/22 SSPE [1.72 (0.85-3.04)] children and 16/17 pseudo-controls [2.60 (1.72-3.83); P = 0.17] were similar. IL-4, IL-10, and interferon-gammas were undetectable in both the groups. 18F-FDG-PET showed putaminal hypermetabolism in 7/9 (78%) and thalamo-cerebellar hypometabolism in 8/9 (88%) with variable foci of cortical hypometabolism.
Conclusions
Elevated CSF NFH levels suggest ongoing neuronal loss in SSPE. Cell mediated immunity is altered, and active neuroinflammation (T-cell mediated) may not be contributing to the ongoing neurodegeneration. 18F-FDG-PET imaging consistently reveals putaminal hypermetabolism alongside thalamo-cerebellar hypometabolism, which may prove valuable in diagnosing challenging SSPE cases.
{"title":"Unravelling the Inflammatory and Metabolic Insights in Subacute Sclerosing Panencephalitis: A Prospective Multimodal Evaluation","authors":"Prashant Jauhari MD, DM , Sakshi Ojha MD, DM , Madhavi Tripathi MD , Lata Singh PhD , Vishwesh Bharadiya MBBS , Amulya Gupta MBBS , Parul Berry MBBS , Gagneet Kaur MBBS , Atin Kumar MD , Ashish Upadhyay PhD , Sheffali Gulati MD","doi":"10.1016/j.pediatrneurol.2025.10.012","DOIUrl":"10.1016/j.pediatrneurol.2025.10.012","url":null,"abstract":"<div><h3>Background</h3><div>This study discusses results of multimodal evaluation of biomarkers of neuroinflammation and neurodegeneration in cerebrospinal fluid (CSF) and Fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) findings in Subacute sclerosing panencephalitis (SSPE).</div></div><div><h3>Methods</h3><div>Consecutive children (3-14 years) with SSPE fulfilling the Dyken criteria during the study period (2020-2022) were enrolled. Clinical profile, radiological and electroencephalography data were chronicled. CSF interleukins (ILs) IL-4, IL-6, and IL-10; interferon-gamma; and neurofilament heavy chain (NFH) levels were analysed and compared with age matched pseudo-controls. 18F-FDG-PET imaging was performed in a subset of children who consented for the same.</div></div><div><h3>Results</h3><div>Thirty-three children with SSPE were enrolled [mean age 8.06 ± 2.67 years; males: 82%; Jabbour Stage I-6%, Stage II-67%, Stage III-27%]. Two forms of presentation were seen: short/absent stage I with early onset myoclonic jerks (N = 22; mean age of onset 7.85 ± 2.45) and prolonged stage I with late onset epilepsy (N = 11; mean age 6 ± 1.9 years, <em>P</em> = 0.03). CSF NFH was significantly elevated in SSPE [132.62 (53.6-388.9) vs 0.0 (0-16.9) pg/ml; <em>P</em> = 0.0001] compared to the pseudo-controls. CSF IL-6 (pg/ml) in 21/22 SSPE [1.72 (0.85-3.04)] children and 16/17 pseudo-controls [2.60 (1.72-3.83); <em>P</em> = 0.17] were similar. IL-4, IL-10, and interferon-gammas were undetectable in both the groups. 18F-FDG-PET showed putaminal hypermetabolism in 7/9 (78%) and thalamo-cerebellar hypometabolism in 8/9 (88%) with variable foci of cortical hypometabolism.</div></div><div><h3>Conclusions</h3><div>Elevated CSF NFH levels suggest ongoing neuronal loss in SSPE. Cell mediated immunity is altered, and active neuroinflammation (T-cell mediated) may not be contributing to the ongoing neurodegeneration. 18F-FDG-PET imaging consistently reveals putaminal hypermetabolism alongside thalamo-cerebellar hypometabolism, which may prove valuable in diagnosing challenging SSPE cases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 110-117"},"PeriodicalIF":2.1,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145496397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-22DOI: 10.1016/j.pediatrneurol.2025.10.015
Jennifer V. Gettings BMBS, FRCPC
{"title":"First Line Management of Pediatric Status Epilepticus","authors":"Jennifer V. Gettings BMBS, FRCPC","doi":"10.1016/j.pediatrneurol.2025.10.015","DOIUrl":"10.1016/j.pediatrneurol.2025.10.015","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Page 118"},"PeriodicalIF":2.1,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145506367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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