Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder resulting from damage to the developing brain. While perinatal ischemic and hemorrhagic cerebrovascular events are well-established causes, the potential genetic contribution to these injuries remains underexplored. This study investigated the role of genetic factors in a selected CP cohort secondary to perinatal cerebrovascular injury and explored helpful clinical characteristics that may guide genetic evaluation.
Methods
Chromosomal microarray and exome sequencing were performed in 61 individuals diagnosed with CP secondary to perinatal cerebrovascular injury, of which 37 with ischemic and 24 with hemorrhagic brain injury.
Results
A genetic diagnosis was established in five out of 61 cases (8.2%) with a striking difference between the hemorrhagic and ischemic groups: four out of 24 cases (16.7%) with hemorrhagic injury had a confirmed genetic diagnosis compared to only one out of 37 (2.7%) in the ischemic group. Three hemorrhagic cases carried (likely) pathogenic variants in COL4A1. One additional case carried a de novo 12pter duplication, a previously unreported association with perinatal brain hemorrhage. The single diagnosis in the ischemic group was a mosaic JAG1 variant related to Alagille syndrome.
Conclusions
Our findings underscore the value of genetic testing in children with CP due to perinatal hemorrhagic brain injury, with a seemingly important role for COL4A1. Less diagnoses were made in the ischemic group, suggesting a potential multifactorial underlying pathophysiology. Further research in larger cohorts and by using genome-wide technologies is essential in further elucidating the genetic architecture of perinatal cerebrovascular injury.
{"title":"Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular Events","authors":"Liene Thys MD , Diane Beysen MD, PhD , Sandra Kenis MD , Lieve Verstraete MD , Sabine Laroche MD , Sven Dekeyzer MD , Katrien Janssens PhD , Marije Meuwissen MD, PhD","doi":"10.1016/j.pediatrneurol.2025.09.023","DOIUrl":"10.1016/j.pediatrneurol.2025.09.023","url":null,"abstract":"<div><h3>Background</h3><div>Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder resulting from damage to the developing brain. While perinatal ischemic and hemorrhagic cerebrovascular events are well-established causes, the potential genetic contribution to these injuries remains underexplored. This study investigated the role of genetic factors in a selected CP cohort secondary to perinatal cerebrovascular injury and explored helpful clinical characteristics that may guide genetic evaluation.</div></div><div><h3>Methods</h3><div>Chromosomal microarray and exome sequencing were performed in 61 individuals diagnosed with CP secondary to perinatal cerebrovascular injury, of which 37 with ischemic and 24 with hemorrhagic brain injury.</div></div><div><h3>Results</h3><div>A genetic diagnosis was established in five out of 61 cases (8.2%) with a striking difference between the hemorrhagic and ischemic groups: four out of 24 cases (16.7%) with hemorrhagic injury had a confirmed genetic diagnosis compared to only one out of 37 (2.7%) in the ischemic group. Three hemorrhagic cases carried (likely) pathogenic variants in <em>COL4A1</em>. One additional case carried a <em>de novo</em> 12pter duplication, a previously unreported association with perinatal brain hemorrhage. The single diagnosis in the ischemic group was a mosaic <em>JAG1</em> variant related to Alagille syndrome.</div></div><div><h3>Conclusions</h3><div>Our findings underscore the value of genetic testing in children with CP due to perinatal hemorrhagic brain injury, with a seemingly important role for <em>COL4A1</em>. Less diagnoses were made in the ischemic group, suggesting a potential multifactorial underlying pathophysiology. Further research in larger cohorts and by using genome-wide technologies is essential in further elucidating the genetic architecture of perinatal cerebrovascular injury.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 1-7"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145365697","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}
Dose of rehabilitation services is important for optimizing developmental outcomes for children with cerebral palsy (CP). However, little is known about how much in-person rehabilitation infants and toddlers with CP currently receive, and how dose relates to function. The purpose of this study is to describe the dose of in-person rehabilitation services received by infants and toddlers with CP and to evaluate the relationship between physical therapy (PT) dose, age, and gross motor function.
Methods
We enrolled 53 participants (6 months-2 years old) with moderate-to-severe CP, defined as Gross Motor Function Classification System levels III–V. Parent-reported data on outpatient and early intervention PT, occupational therapy, and speech-language pathology services over the past 6 months were used to calculate monthly service dose. The Gross Motor Function Measure, 88-item was administered to quantify motor function.
Results
Participants received very low doses of therapy across disciplines. The mean total hours of rehabilitation services the participants received were between 0.4 and 3.0 hours per discipline per month. Combined in-person services averaged less than 9 total hours per month. There was no relationship found between the total hours of PT the child received and their age (P = 0.27, F = 1.22) or gross motor function (as measured by the Gross Motor Function Measure, 88-item) (P = 0.82, F = 0.05).
Conclusions
Infants and toddlers with moderate-to-severe CP receive low doses of in-person rehabilitation, and the dose of PT does not appear to be individualized based on age or functional severity. These findings suggest a need for more tailored, intensive, and family-centered rehabilitation planning in early childhood.
康复服务的剂量对于优化脑瘫儿童的发育结局是重要的。然而，对于目前患有CP的婴幼儿接受了多少面对面的康复治疗，以及剂量与功能之间的关系，人们知之甚少。本研究的目的是描述婴幼儿CP患者接受的面对面康复服务的剂量，并评估物理治疗（PT）剂量、年龄和大运动功能之间的关系。方法我们招募了53名患有中度至重度CP的参与者（6个月-2岁），定义为大运动功能分类系统等级III-V。过去6个月的门诊和早期干预PT、职业治疗和语言病理学服务的家长报告数据用于计算每月服务剂量。采用大运动功能量表（共88项）量化运动功能。结果：参与者接受了非常低剂量的跨学科治疗。参与者接受康复服务的平均总时间在每个学科每月0.4至3.0小时之间。综合起来，每个月的上门服务时间平均少于9小时。儿童接受PT的总时数与他们的年龄（P = 0.27, F = 1.22）或大运动功能（用大运动功能量表测量，88项）（P = 0.82, F = 0.05）之间没有关系。结论：中重度CP的婴幼儿接受低剂量的面对面康复治疗，并且PT的剂量似乎并不是基于年龄或功能严重程度的个体化治疗。这些发现表明，需要在儿童早期制定更有针对性、更密集、更以家庭为中心的康复计划。
{"title":"Infants and Toddlers With Moderate-To-Severe Cerebral Palsy Receive Very Low Doses of In-Person Rehabilitation","authors":"Rachel Bican PT, DPT, PhD , Jill Heathcock PT, MPT, PhD","doi":"10.1016/j.pediatrneurol.2025.10.009","DOIUrl":"10.1016/j.pediatrneurol.2025.10.009","url":null,"abstract":"<div><h3>Background</h3><div>Dose of rehabilitation services is important for optimizing developmental outcomes for children with cerebral palsy (CP). However, little is known about how much in-person rehabilitation infants and toddlers with CP currently receive, and how dose relates to function. The purpose of this study is to describe the dose of in-person rehabilitation services received by infants and toddlers with CP and to evaluate the relationship between physical therapy (PT) dose, age, and gross motor function.</div></div><div><h3>Methods</h3><div>We enrolled 53 participants (6 months-2 years old) with moderate-to-severe CP, defined as Gross Motor Function Classification System levels III–V. Parent-reported data on outpatient and early intervention PT, occupational therapy, and speech-language pathology services over the past 6 months were used to calculate monthly service dose. The Gross Motor Function Measure, 88-item was administered to quantify motor function.</div></div><div><h3>Results</h3><div>Participants received very low doses of therapy across disciplines. The mean total hours of rehabilitation services the participants received were between 0.4 and 3.0 hours per discipline per month. Combined in-person services averaged less than 9 total hours per month. There was no relationship found between the total hours of PT the child received and their age (<em>P</em> = 0.27, F = 1.22) or gross motor function (as measured by the Gross Motor Function Measure, 88-item) (<em>P</em> = 0.82, F = 0.05).</div></div><div><h3>Conclusions</h3><div>Infants and toddlers with moderate-to-severe CP receive low doses of in-person rehabilitation, and the dose of PT does not appear to be individualized based on age or functional severity. These findings suggest a need for more tailored, intensive, and family-centered rehabilitation planning in early childhood.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 91-96"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468461","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 : 2026-01-01Epub Date: 2025-10-08DOI: 10.1016/j.pediatrneurol.2025.10.001
Emily Da Cruz BS , Diana Tambala MD , Anna Lynch BA , Claire Manley BA , Melissa Bambery BS , Daniel Kelly BS , Carrie Chui MD , Kenda Alhadid MD, MSc , Alyssa W. Sullivan PhD , Julie Grieco PsyD , Benjamin Ondeck BS , Arne Lauer MD , Lotfi B. Merabet OD, PhD, MPH , Patricia L. Musolino MD, PhD
Background
Cerebral injury due to stroke in childhood increases the risk of higher-order visual processing (HOVP) deficits, which can lead to behavioral and learning disabilities if left untreated. Using a virtual reality-based search task and structural magnetic resonance imaging analysis, we assess the extent of functional vision deficits in childhood stroke participants and potential anatomical correlates.
Methods
Twenty childhood stroke participants and 38 unimpaired controls completed a dynamic visual search task using a virtual reality/eye-tracking (VR/ET) paradigm to quantify functional vision abilities. Virtual reality assessment measures, stroke imaging characteristics, and neuropsychological outcomes were analyzed.
Results
All childhood stroke participants completed the VR/ET task with success rates and task compliance in equal measure to controls, and the task demonstrated association with neuropsychological testing measures of processing speed. Less accurate search, slower fixation rates, less sensitivity to task load changes, and greater delays initiating a response to a target were observed in our stroke cohort. On magnetic resonance imaging lesion analysis, injury involving the posterior visual pathways, specifically the optic radiations, inferior longitudinal fasciculus, or superior longitudinal fasciculus, correlated with slower reaction time when controlling for age at time of testing.
Conclusions
Bedside VR/ET assessment in children affected by stroke can detect signs of HOVP deficits identified in neuropsychological testing. Imaging demonstrating involvement of the posterior visual pathway is strongly correlated with impaired visual tracking ability development. Our study demonstrates that injury pattern on imaging at stroke diagnosis can help identify children at risk of HOVP deficits, enabling early monitoring and accommodations facilitating functional vision development.
{"title":"Involvement of the Posterior Visual Pathway Correlates With Higher-Order Visual Impairment in Childhood Stroke Participants Detected by Virtual Reality/Eye-Tracking Paradigm","authors":"Emily Da Cruz BS , Diana Tambala MD , Anna Lynch BA , Claire Manley BA , Melissa Bambery BS , Daniel Kelly BS , Carrie Chui MD , Kenda Alhadid MD, MSc , Alyssa W. Sullivan PhD , Julie Grieco PsyD , Benjamin Ondeck BS , Arne Lauer MD , Lotfi B. Merabet OD, PhD, MPH , Patricia L. Musolino MD, PhD","doi":"10.1016/j.pediatrneurol.2025.10.001","DOIUrl":"10.1016/j.pediatrneurol.2025.10.001","url":null,"abstract":"<div><h3>Background</h3><div>Cerebral injury due to stroke in childhood increases the risk of higher-order visual processing (HOVP) deficits, which can lead to behavioral and learning disabilities if left untreated. Using a virtual reality-based search task and structural magnetic resonance imaging analysis, we assess the extent of functional vision deficits in childhood stroke participants and potential anatomical correlates.</div></div><div><h3>Methods</h3><div>Twenty childhood stroke participants and 38 unimpaired controls completed a dynamic visual search task using a virtual reality/eye-tracking (VR/ET) paradigm to quantify functional vision abilities. Virtual reality assessment measures, stroke imaging characteristics, and neuropsychological outcomes were analyzed.</div></div><div><h3>Results</h3><div>All childhood stroke participants completed the VR/ET task with success rates and task compliance in equal measure to controls, and the task demonstrated association with neuropsychological testing measures of processing speed. Less accurate search, slower fixation rates, less sensitivity to task load changes, and greater delays initiating a response to a target were observed in our stroke cohort. On magnetic resonance imaging lesion analysis, injury involving the posterior visual pathways, specifically the optic radiations, inferior longitudinal fasciculus, or superior longitudinal fasciculus, correlated with slower reaction time when controlling for age at time of testing.</div></div><div><h3>Conclusions</h3><div>Bedside VR/ET assessment in children affected by stroke can detect signs of HOVP deficits identified in neuropsychological testing. Imaging demonstrating involvement of the posterior visual pathway is strongly correlated with impaired visual tracking ability development. Our study demonstrates that injury pattern on imaging at stroke diagnosis can help identify children at risk of HOVP deficits, enabling early monitoring and accommodations facilitating functional vision development.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 37-45"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145409418","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 : 2026-01-01Epub Date: 2025-09-30DOI: 10.1016/j.pediatrneurol.2025.09.018
Andrea D. Praticò MD, PhD , Laura Di Stefano MD , Laura Sciuto MD , Claudia Di Napoli MD , Basilio Pecorino MD , Agata Polizzi MD, PhD , Martino Ruggieri BA, MD, PhD
Background
To evaluate the interplay of genetic predispositions and prenatal, perinatal, and postnatal risk factors in children with Level 3 Autism Spectrum Disorder (ASD).
Methods
This retrospective study included 77 children with Level 3-ASD from a Sicilian pediatric cohort. We systematically reviewed medical records to assess prenatal, perinatal, and postnatal risk factors, alongside genetic findings. Genetic testing included chromosomal microarray and next-generation sequencing for the identification of pathogenic or likely pathogenic variants. Statistical analyses were performed to evaluate the correlation between cumulative risk factors and positive genetic findings, focusing on the role of chromosomal copy number variations (CNVs) and point mutations.
Results
Of the 77 children included, 54.5% showed a positive genetic finding, including CNVs or pathogenic single-gene variants. All patients had at least one prenatal risk factor, while postnatal complications were present in 48.1%. CNV carriers exhibited a significantly higher burden of both prenatal (mean = 6.70) and neonatal (mean = 2.40) risk factors compared to other groups (P < 0.001). Genetically positive patients had a significantly higher cumulative risk factor load than genetically negative ones (P = 0.0006). Low birth weight, hyperbilirubinemia, and early neurological comorbidities were significantly associated with genetic findings (odds ratio = 10.0, 7.1, and 12.0, respectively). No single risk factor significantly differentiated CNV from single-gene cases. LASSO regression identified neurological comorbidities, hyperbilirubinemia, cesarean delivery, and hypoglycemia as independent predictors of genetic positivity. Overall, genetic predisposition correlated with increased perinatal and neonatal complications.
Conclusions
This study highlights the multifactorial nature of ASD and supports integrating genetic and environmental assessments into early diagnostic strategies. Early genetic screening and targeted interventions in infants with multiple risk factors may aid in reducing ASD risk and improving outcomes.
{"title":"The Complex Interplay of Adverse Prenatal and Neonatal Events, Genetic Predisposition, and Autism Spectrum Disorder: A Retrospective Analysis","authors":"Andrea D. Praticò MD, PhD , Laura Di Stefano MD , Laura Sciuto MD , Claudia Di Napoli MD , Basilio Pecorino MD , Agata Polizzi MD, PhD , Martino Ruggieri BA, MD, PhD","doi":"10.1016/j.pediatrneurol.2025.09.018","DOIUrl":"10.1016/j.pediatrneurol.2025.09.018","url":null,"abstract":"<div><h3>Background</h3><div>To evaluate the interplay of genetic predispositions and prenatal, perinatal, and postnatal risk factors in children with Level 3 Autism Spectrum Disorder (ASD).</div></div><div><h3>Methods</h3><div>This retrospective study included 77 children with Level 3-ASD from a Sicilian pediatric cohort. We systematically reviewed medical records to assess prenatal, perinatal, and postnatal risk factors, alongside genetic findings. Genetic testing included chromosomal microarray and next-generation sequencing for the identification of pathogenic or likely pathogenic variants. Statistical analyses were performed to evaluate the correlation between cumulative risk factors and positive genetic findings, focusing on the role of chromosomal copy number variations (CNVs) and point mutations.</div></div><div><h3>Results</h3><div>Of the 77 children included, 54.5% showed a positive genetic finding, including CNVs or pathogenic single-gene variants. All patients had at least one prenatal risk factor, while postnatal complications were present in 48.1%. CNV carriers exhibited a significantly higher burden of both prenatal (mean = 6.70) and neonatal (mean = 2.40) risk factors compared to other groups (<em>P</em> < 0.001). Genetically positive patients had a significantly higher cumulative risk factor load than genetically negative ones (<em>P</em> = 0.0006). Low birth weight, hyperbilirubinemia, and early neurological comorbidities were significantly associated with genetic findings (odds ratio = 10.0, 7.1, and 12.0, respectively). No single risk factor significantly differentiated CNV from single-gene cases. LASSO regression identified neurological comorbidities, hyperbilirubinemia, cesarean delivery, and hypoglycemia as independent predictors of genetic positivity. Overall, genetic predisposition correlated with increased perinatal and neonatal complications.</div></div><div><h3>Conclusions</h3><div>This study highlights the multifactorial nature of ASD and supports integrating genetic and environmental assessments into early diagnostic strategies. Early genetic screening and targeted interventions in infants with multiple risk factors may aid in reducing ASD risk and improving outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 8-19"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145401549","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 : 2026-01-01Epub Date: 2025-10-08DOI: 10.1016/j.pediatrneurol.2025.10.003
Hanna Westergren MD , Helena Marell Hesla MD, PhD , Maria Altman MD, PhD , Sara Freyland MSc , Ronny Wickström MD, PhD
Background
To study the risk of postneonatal epilepsy (PNE) after neonatal seizures with electroencephalographic verification, regardless of cause. To investigate which antiseizure medications (ASMs) were used during neonatal hospitalization and to what extent infants were discharged with ASMs from neonatal care.
Methods
A Swedish nationwide population-based cohort study, based on national health care registries, including children born from 2009 to 2020. Exposure: Neonatal seizures, verified with electroencephalogram and/or amplitude-integrated electroencephalogram. Outcome: PNE, with cumulative incidence at 2 and 7 years of age and hazard ratios, excluding children with neonatal onset epilepsy. Follow-up period: January 1, 2009, to December 31, 2021.
Results
The cumulative incidence of PNE was 15.7% (95% confidence interval [CI]: 13.5-18.9) at 2 years and 22.4% (95% CI: 19.8-25.2) at 7 years of age in children with neonatal seizures. For controls, the corresponding incidences were 0.11% (95% CI: 0.05-0.24) and 0.56% (95% CI: 0.36-0.84). The adjusted hazard ratio for PNE following neonatal seizures was 50.3 (95% CI: 33.5-75.5). Phenobarbital was the most commonly used ASM during neonatal hospitalization. The proportions of infants discharged with ASM decreased during the study period from over 70% to 8%, while the risk of PNE remained unchanged.
Conclusions
Children with electroencephalographically verified seizures in the neonatal period are at high risk of developing PNE, vastly surpassing that of the unaffected population. The findings indicate the importance of a standardized clinical follow-up of the affected children and that further research is needed to investigate the impact of seizures per se in specific subgroups.
{"title":"Epilepsy After Electroencephalographically Verified Neonatal Seizures: A Swedish Population-Based Matched Cohort Study","authors":"Hanna Westergren MD , Helena Marell Hesla MD, PhD , Maria Altman MD, PhD , Sara Freyland MSc , Ronny Wickström MD, PhD","doi":"10.1016/j.pediatrneurol.2025.10.003","DOIUrl":"10.1016/j.pediatrneurol.2025.10.003","url":null,"abstract":"<div><h3>Background</h3><div>To study the risk of postneonatal epilepsy (PNE) after neonatal seizures with electroencephalographic verification, regardless of cause. To investigate which antiseizure medications (ASMs) were used during neonatal hospitalization and to what extent infants were discharged with ASMs from neonatal care.</div></div><div><h3>Methods</h3><div>A Swedish nationwide population-based cohort study, based on national health care registries, including children born from 2009 to 2020. Exposure: Neonatal seizures, verified with electroencephalogram and/or amplitude-integrated electroencephalogram. Outcome: PNE, with cumulative incidence at 2 and 7 years of age and hazard ratios, excluding children with neonatal onset epilepsy. Follow-up period: January 1, 2009, to December 31, 2021.</div></div><div><h3>Results</h3><div>The cumulative incidence of PNE was 15.7% (95% confidence interval [CI]: 13.5-18.9) at 2 years and 22.4% (95% CI: 19.8-25.2) at 7 years of age in children with neonatal seizures. For controls, the corresponding incidences were 0.11% (95% CI: 0.05-0.24) and 0.56% (95% CI: 0.36-0.84). The adjusted hazard ratio for PNE following neonatal seizures was 50.3 (95% CI: 33.5-75.5). Phenobarbital was the most commonly used ASM during neonatal hospitalization. The proportions of infants discharged with ASM decreased during the study period from over 70% to 8%, while the risk of PNE remained unchanged.</div></div><div><h3>Conclusions</h3><div>Children with electroencephalographically verified seizures in the neonatal period are at high risk of developing PNE, vastly surpassing that of the unaffected population. The findings indicate the importance of a standardized clinical follow-up of the affected children and that further research is needed to investigate the impact of seizures <em>per se</em> in specific subgroups.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 29-36"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145409346","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 : 2026-01-01Epub 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":"2026-01-01","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}
Pub Date : 2026-01-01Epub Date: 2025-10-14DOI: 10.1016/j.pediatrneurol.2025.09.020
Ilona Kopyta , Manish Parakh , Gabrielle deVeber , Yenny C. Zuñiga Z , Maria Fernanda Rios Pistoia , Kevin O'Connor , Fernanda Paz Balut , Jenny Wilson , Marilyn Tan , Allyson Schenk , Piotr Rodak , Ankit Kumar Meena , Suman Das
Background
Pediatric stroke care varies across institutions, but global differences have not been explored. Our objective was to evaluate global variability and challenges in pediatric stroke care.
Methods
The Global Alliance for Pediatric Stroke Epidemiology and Resources Working Group of the International Pediatric Stroke Organization distributed a 43-question online survey to international child neurology organizations.
Results
A total of 135 responses were received, from Europe, North America, and Australia (n = 66), South America (n = 27) and Asia and Africa (AA; n = 42). Respondents were mainly pediatric neurologists from quaternary/tertiary teaching hospitals (>90%) and worked in urban areas (85%-90%) or large cities (40%-60%). Outside of Asia, women comprised 70% of the respondents, whereas males made up the majority in Asia. Globally, pediatric neurologists manage emergency room triage and inpatient treatment stroke in most facilities (65%-68%). Experienced (>20 years) pediatric stroke subspecialists were available in a minority of centers (7%-17%). Multidisciplinary teams and institutional algorithms were more common in Europe and the Americas compared to Asia (53% vs 7-11% and 80-85% vs 20%, respectively). Reduced awareness of pediatric stroke was identified as a reason for the delay in seeking care in Europe, North America, and Australia by caregivers (44%) and health providers (38%), while in AA it was 67% and 58%.
Conclusions
Across all regions, significant challenges in pediatric stroke management exist. Serious gaps exist in Asia related to personnel, expertise, and infrastructure. Development and improvement of local policies and resources are urgently needed in AA to improve pediatric stroke outcomes.
{"title":"Current State of the Global Pediatric Stroke Care-Results From the Global Alliance for Pediatric Stroke Epidemiology and Resources Survey","authors":"Ilona Kopyta , Manish Parakh , Gabrielle deVeber , Yenny C. Zuñiga Z , Maria Fernanda Rios Pistoia , Kevin O'Connor , Fernanda Paz Balut , Jenny Wilson , Marilyn Tan , Allyson Schenk , Piotr Rodak , Ankit Kumar Meena , Suman Das","doi":"10.1016/j.pediatrneurol.2025.09.020","DOIUrl":"10.1016/j.pediatrneurol.2025.09.020","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric stroke care varies across institutions, but global differences have not been explored. Our objective was to evaluate global variability and challenges in pediatric stroke care.</div></div><div><h3>Methods</h3><div>The Global Alliance for Pediatric Stroke Epidemiology and Resources Working Group of the International Pediatric Stroke Organization distributed a 43-question online survey to international child neurology organizations.</div></div><div><h3>Results</h3><div>A total of 135 responses were received, from Europe, North America, and Australia (n = 66), South America (n = 27) and Asia and Africa (AA; n = 42). Respondents were mainly pediatric neurologists from quaternary/tertiary teaching hospitals (>90%) and worked in urban areas (85%-90%) or large cities (40%-60%). Outside of Asia, women comprised 70% of the respondents, whereas males made up the majority in Asia. Globally, pediatric neurologists manage emergency room triage and inpatient treatment stroke in most facilities (65%-68%). Experienced (>20 years) pediatric stroke subspecialists were available in a minority of centers (7%-17%). Multidisciplinary teams and institutional algorithms were more common in Europe and the Americas compared to Asia (53% vs 7-11% and 80-85% vs 20%, respectively). Reduced awareness of pediatric stroke was identified as a reason for the delay in seeking care in Europe, North America, and Australia by caregivers (44%) and health providers (38%), while in AA it was 67% and 58%.</div></div><div><h3>Conclusions</h3><div>Across all regions, significant challenges in pediatric stroke management exist. Serious gaps exist in Asia related to personnel, expertise, and infrastructure. Development and improvement of local policies and resources are urgently needed in AA to improve pediatric stroke outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 101-109"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145467817","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 : 2026-01-01Epub Date: 2025-10-10DOI: 10.1016/j.pediatrneurol.2025.10.005
Christina Briscoe MD, EdM , Akshat Katyayan MD , Chellamani Harini MD , Shaun A. Hussain MD , Sonam Bhalla MD , Avantika Singh MD , Stephanie Donatelli MD , Amanda G. Sandoval Karamian MD , Debopam Samanta MD , Deepa Sirsi MD , Eva Catenaccio MD , Maria A. Planchart Ferretto MD , Liu Lin Thio MD, PhD , Senyene E. Hunter MD, PhD , Pavuluri Spriha MD , Chethan K. Rao DO, MS , Sonal Bhatia MD , Gozde Erdemir MD , Daniel W. Shrey MD , Adam L. Numis MD
Background
Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy that requires prompt, effective treatment to optimize outcomes. While the first therapies for IESS with adrenocorticotrophic hormone, prednisolone, or vigabatrin are widely established as a standard, we hypothesized that the treatment protocols of how these therapies should be implemented varied across medical centers.
Methods
The Pediatric Epilepsy Research Consortium Infantile Spasms Special Interest Group distributed a REDCap survey to 75 US epilepsy centers. Predefined treatment pathway characteristics were extracted and compared. Standard therapy regimens were defined before data collection.
Results
Thirty-six centers participated (48% completion rate). Most (89%, n = 32) had IESS treatment pathways, with 72% (n = 23) influenced by insurance barriers such as prior authorizations. Of these, 75% (n = 24) contributed pathways for analysis. Most protocols (88%, n = 21) recommended a standard treatment course for new-onset IESS. Of these, 63% (n = 15) endorsed a sequential approach to using hormonal therapy and vigabatrin, while 17% (n = 4) recommended combination therapy with both for all children. Thirteen centers (54%) provided recommendations for treating persistent epileptic spasms. Approaches to side-effect mitigation varied widely, with gastrointestinal prophylaxis and blood pressure control being the most common (79%, n = 19). Half of the pathways mentioned ketogenic diet (58%) or epilepsy surgery (46%).
Conclusions
While there was broad consensus regarding first and second therapy treatment for IESS, variability existed in using sequential versus combination therapy, third therapies, and adverse event monitoring. These findings will guide next research steps in defining key questions on sequential versus combination therapy, third line therapy, and adverse event monitoring in order to develop a standardized consensus-driven treatment protocol for IESS in the future.
{"title":"Treatment Practices for Infantile Epileptic Spasms Syndrome: Consensus and Variation in Major Pediatric Epilepsy Centers","authors":"Christina Briscoe MD, EdM , Akshat Katyayan MD , Chellamani Harini MD , Shaun A. Hussain MD , Sonam Bhalla MD , Avantika Singh MD , Stephanie Donatelli MD , Amanda G. Sandoval Karamian MD , Debopam Samanta MD , Deepa Sirsi MD , Eva Catenaccio MD , Maria A. Planchart Ferretto MD , Liu Lin Thio MD, PhD , Senyene E. Hunter MD, PhD , Pavuluri Spriha MD , Chethan K. Rao DO, MS , Sonal Bhatia MD , Gozde Erdemir MD , Daniel W. Shrey MD , Adam L. Numis MD","doi":"10.1016/j.pediatrneurol.2025.10.005","DOIUrl":"10.1016/j.pediatrneurol.2025.10.005","url":null,"abstract":"<div><h3>Background</h3><div>Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy that requires prompt, effective treatment to optimize outcomes. While the first therapies for IESS with adrenocorticotrophic hormone, prednisolone, or vigabatrin are widely established as a standard, we hypothesized that the treatment protocols of how these therapies should be implemented varied across medical centers.</div></div><div><h3>Methods</h3><div>The Pediatric Epilepsy Research Consortium Infantile Spasms Special Interest Group distributed a REDCap survey to 75 US epilepsy centers. Predefined treatment pathway characteristics were extracted and compared. Standard therapy regimens were defined before data collection.</div></div><div><h3>Results</h3><div>Thirty-six centers participated (48% completion rate). Most (89%, n = 32) had IESS treatment pathways, with 72% (n = 23) influenced by insurance barriers such as prior authorizations. Of these, 75% (n = 24) contributed pathways for analysis. Most protocols (88%, n = 21) recommended a standard treatment course for new-onset IESS. Of these, 63% (n = 15) endorsed a sequential approach to using hormonal therapy and vigabatrin, while 17% (n = 4) recommended combination therapy with both for all children. Thirteen centers (54%) provided recommendations for treating persistent epileptic spasms. Approaches to side-effect mitigation varied widely, with gastrointestinal prophylaxis and blood pressure control being the most common (79%, n = 19). Half of the pathways mentioned ketogenic diet (58%) or epilepsy surgery (46%).</div></div><div><h3>Conclusions</h3><div>While there was broad consensus regarding first and second therapy treatment for IESS, variability existed in using sequential versus combination therapy, third therapies, and adverse event monitoring. These findings will guide next research steps in defining key questions on sequential versus combination therapy, third line therapy, and adverse event monitoring in order to develop a standardized consensus-driven treatment protocol for IESS in the future.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 46-53"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145419784","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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