Journal of Child Neurology最新文献

{"title":"Managing GLUT 1 Deficiency with the Ketogenic Diet: A Retrospective Look at Seizures, Medications, and Side Effects in a Pediatric Cohort.","authors":"Savannah Morris, Robyn Blackford, Wesley Lowman, Breanne Fisher","doi":"10.1177/08830738251409560","DOIUrl":"10.1177/08830738251409560","url":null,"abstract":"<p><p>Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a genetic condition associated with complex neurologic symptoms, including epilepsy. Ketogenic diet therapy (KDT) is considered the standard treatment for GLUT1DS. This retrospective study identified trends in treatment with KDT for patients with GLUT1DS to optimize the current standards of care.MethodsA retrospective chart review was performed to identify patients at a pediatric institution with GLUT1DS receiving the ketogenic diet.ResultsTwelve patients were identified; 10 met inclusion criteria. A classic ketogenic diet (cKD) with a 3:1 ratio provides effective support for patients in this sample.ConclusionResults of the study suggest that a 3:1 ratio of KDT, which may increase tolerance and adherence and reduce adverse effects, may be acceptable in patients with GLUT1DS.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1243-1248"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145944207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of Children With Optic Neuritis as Their First Demyelinating Event.","authors":"Lydia Marcus, Andrew Van, Tanya Correya, Sanford Williams, Miguel Arias, Hazel Quesada, Immaculada Aban, Robert G Tauscher, Jayne Ness","doi":"10.1177/08830738251405681","DOIUrl":"10.1177/08830738251405681","url":null,"abstract":"<p><p>IntroductionOptic neuritis (ON) is an acquired demyelinating syndrome and the most common cause of acute optic nerve inflammation in children and adults. This study describes the clinical and diagnostic features, visual outcomes, and relapse risk of children presenting with their first ON episode.MethodsWe prospectively identified 50 children presenting with ON as their first demyelinating event. Patients underwent both serum myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) antibody screening (n = 42) or were diagnosed with AQP4-seropositive neuromyelitis optica spectrum disorder (NMOSD) without MOG testing (n = 8). We analyzed demographics, antibody status, magnetic resonance imaging (MRI) findings, treatments, relapses, and visual disability.ResultsSubjects were stratified by diagnosis into idiopathic ON (n = 6), MOG antibody disease (n = 20), multiple sclerosis (n = 11), and NMOSD (n = 13). Females comprised 66% of the cohort. The mean age at onset was 12 years, and Black patients represented 48% of the cohort. Decreased visual acuity was nearly universal (96%). The logMAR of the worst eye at onset was most severe in NMOSD (3.1) and mildest in idiopathic ON (1.3). Ninety percent received intravenous steroids as acute treatment. Visual recovery varied by diagnosis, with mean improvement of 1.5 logMAR. Half (n = 25) experienced relapses, most commonly ON (19 of 25) or longitudinally extensive transverse myelitis (9 of 25). NMOSD patients had the highest relapse rates and poorest visual outcomes.ConclusionPediatric ON often leads to chronic demyelinating conditions. Visual recovery is overall good, but patients with NMOSD have worse visual outcomes and higher relapse rates.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1260-1269"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145944220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intelligence Over Time in Children with Neurofibromatosis Type 1 Based on a Structured Natural History-Study.","authors":"Sandra van Abeelen, Jos G M Hendriksen, Anton de Louw, Marie Claire Y de Wit, Pieter F A de Nijs, Rianne Oostenbrink, André B Rietman","doi":"10.1177/08830738261416621","DOIUrl":"10.1177/08830738261416621","url":null,"abstract":"<p><p>This study examines the course of intelligence in children with neurofibromatosis type 1 (NF1) and factors influencing changes. In this cross-sectional and longitudinal study, 397 children were assessed at ages 3, 6, 11, and 15 years using a neuropsychological test battery. Comparisons of demographics and scores were conducted across and within cross-sectional and longitudinal groups. Cross-sectionally, 15-year-olds outperformed 11-year-olds on Performance IQ (PIQ). A reduced PIQ at age 11 years was found that appeared to recover by age 15 years in the longitudinal group. The mother's level of education, the mode of inheritance, or attention-deficit hyperactivity disorder were not predictive of these changes. Overall, intelligence remains stable in children with NF1 between 3 and 15 years of age. The gap between PIQ and VIQ decreases over time. Neurocognitive monitoring is recommended during the critical period between ages 6 and 11 years due to risks of attention and learning issues.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1311-1324"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146213111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Radiologic Combination in Glutaric Aciduria Type 1.","authors":"Cristiano Esteves, Graça Sá, Patrícia Janeiro, Joana Coelho, Filipa Proença","doi":"10.1177/08830738261444246","DOIUrl":"10.1177/08830738261444246","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1328-1330"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147815695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental and Psychiatric Disorders and the Use of Psychotropic Medications in a National Sample of Individuals With Juvenile Neuronal Ceroid Lipofuscinosis.","authors":"Beate Oerbeck, Ingrid B Helland, Heather R Adams, Kristin Romvig Overgaard","doi":"10.1177/08830738251413827","DOIUrl":"10.1177/08830738251413827","url":null,"abstract":"<p><p>Juvenile neuronal ceroid lipofuscinosis, linked to mutations in the ceroid lipofuscinosis, neuronal 3 (CLN3) gene, is a childhood-onset neurodegenerative disorder. Although mood and behavioral symptoms are described in this group, it's unclear whether these meet diagnostic criteria. We investigated the occurrence of neurodevelopmental and psychiatric disorders in a nationally representative sample, using a semistructured psychiatric interview, as well as the use of psychotropic medication. Ten of 20 individuals met the criteria for one or more current diagnoses, with an additional 5 having past diagnoses, resulting in a lifetime occurrence in 15 individuals. Anxiety disorders were the most frequent diagnostic group, followed by neurodevelopmental disorders. Attention-deficit hyperactivity disorder was the most common single diagnosis. Subthreshold psychiatric symptoms were present in all individuals. Although psychiatric disorders were frequent, few used psychotropic medication. These findings underscore the need for routine monitoring of neurodevelopmental and psychiatric disorders in individuals with CLN3 and the provision of evidence-based treatments.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1283-1292"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Screening for Tics Among School-Going Children in Nepal: A Community-Based Cross-Sectional Study.","authors":"Utkarsh Karki, Roshni Khatri, Dipesh Bhattarai, Nisha Karki, Amit Jha","doi":"10.1177/08830738251411442","DOIUrl":"10.1177/08830738251411442","url":null,"abstract":"<p><p>BackgroundTic disorders are one of the common neurodevelopmental disorders seen worldwide. In Nepal, however, data on it are lacking. Hence, this research aimed (1) to screen for tics among school-going children, (2) to estimate the approximate prevalence of tics in school-going children, and (3) to explore the sociodemographic profile of children with tics.MethodsThis study is a cross-sectional and descriptive study. Five schools based on a simple random sampling technique were selected. Children from grades 1 to 8 of the selected schools were recruited for the study. Semi-structured proforma and the Motor or Vocal Inventory of Tics (MOVeIT-14) screening tool were used to collect data.ResultsOf 1116 children, 633 responded, resulting in a response rate of 56.72%. Thirty-two children (n = 32) screened positive for tics, yielding an estimated prevalence of 5.1%. The mean age of children who screened positive was 10.92 ± 2.60 years. The male-to-female ratio was 1.2:1. A family history of tics was reported in 28.1% (n = 9) of the tic-positive cases. No significant correlation was found between age and the tic screening score. Although boys had a higher mean screening score (18) compared with girls (14), the difference was not statistically significant. Children with a positive family history of tics had higher screening scores than those without.ConclusionA significant number of children in the community were found to have tics, with a slight predominance among males. Children with a positive family history showed higher tic severity scores.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1270-1276"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145985113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to <i>PRRT2</i> Gene Variant.","authors":"Mariah Pace, Doriette Soler","doi":"10.1177/08830738251415469","DOIUrl":"10.1177/08830738251415469","url":null,"abstract":"<p><p>The <i>PRRT2</i> gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygous <i>PRRT2</i> mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenic <i>PRRT2</i> variants reported an association with paroxysmal movement disorders, including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia associated with infantile convulsions (PKD/IC), also known as infantile convulsions with choreoathetosis syndrome paroxysmal non-kinesigenic dyskinesia (PNKD), hemiplegic migraine, and exercise-induced dyskinesia. However, more recent reports have also documented mutation associated with a broader clinical picture presenting with congenital microcephaly, severe learning difficulties, and pharmacoresistant encephalopathy. We hereby report a patient who presented with paroxysmal dyskinesia, harbouring the mutation variant on <i>PRRT2</i> gene. At 5 months of age, our proband presented to emergency because of jerking movements while in a moving car. This was followed by generalized tonic-clonic seizures and kinesigenic posturing. The latter would occur tens of times per day and a specific trigger did not always prevail. The movements responded well to low-dose carbamazepine and genetic studies confirmed a mutated variant of c.649dup.(Arg217Profs*8).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1336-1339"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146149850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preexisting Mental Health Disorders Are Associated With Acute Clinical Presentation and Longitudinal Recovery Trajectories in Adolescents With Concussion.","authors":"Sofia G Iuliano, Isabelle J Gagnon, Grant L Iverson, Nathan E Cook, Roger Zemek, Elizabeth F Teel","doi":"10.1177/08830738251408113","DOIUrl":"10.1177/08830738251408113","url":null,"abstract":"<p><p>This secondary analysis examined the association between preexisting mental health conditions and clinical recovery trajectories in adolescents with concussion. Adolescents (13-17; n = 1238) completed clinical assessments (Post-Concussion Symptom Inventory [PCSI] ≤48 hours postinjury; PCSI/ Pediatric Quality of Life [PedsQL] for 3 months) and were categorized into control, anxiety, depression, or combined anxiety/depression groups. Acute outcomes were analyzed using analysis of variance or χ², whereas linear and logistic regression analyzed recovery trajectories. A main effect of group was present for acute symptom scores (<i>P</i> = .03), but post-hoc testing revealed no significant comparisons. Main effects of group and time were observed for PCSI and PedsQL outcomes (<i>P</i> < .007), but interaction effects were nonsignificant. The combined anxiety/depression group reported more symptoms, worse quality of life, and had greater odds of experiencing persistent postconcussion symptoms (defined as ≥3 new/worse symptoms at 4 weeks; OR = 2.31, 95% CI = 1.18-4.67, <i>P</i> = .02) in univariate models. However, multivariable models found no association between preexisting mental health conditions and the presence of PPCS (<i>P</i> = .62). Preexisting mental health conditions were associated with similar longitudinal trajectories but higher symptom and lower quality of life scores overall, highlighting their importance in adolescent concussion management.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1249-1259"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19 and Neonatal Guillain-Barré Syndrome: Exploring a Possible Causal Link With Review of Literature.","authors":"Choudri Muzafar Paswal, Neeraj Gupta, Swasthi Kabi Satpathy, Hemant Kumar, Sushil Kumar Choudhary, Lokesh Saini, Arun Kumarendu Singh, Sarbesh Tiwari","doi":"10.1177/08830738251413670","DOIUrl":"10.1177/08830738251413670","url":null,"abstract":"<p><p>IntroductionGuillain-Barré Syndrome (GBS) is an immune-mediated polyneuropathy that is rare in neonates. It may be acquired congenitally via maternal antibody transfer or postnatally after infection. We report a case of postnatally acquired neonatal GBS potentially triggered by SARS-CoV-2 with a review of the literature.PatientA 24-day-old term male presented with progressive hypotonia, a weak cry, and respiratory distress. He had a preceding febrile illness with gastrointestinal symptoms. Examination revealed areflexia, cranial nerve involvement, and generalised weakness.ResultsInvestigations showed albuminocytologic dissociation in cerebrospinal fluid, cauda equina enhancement on magnetic resonance imaging, and motor-sensory polyneuropathy on nerve conduction studies. The infant had high anti-SARS-CoV-2 IgG (>4000 IU/mL) with negative maternal titres. After 2 courses of intravenous immunoglobulin (IVIg), he recovered fully and remained developmentally normal at 2-year follow-up.ConclusionGBS should be considered in floppy neonates with a postinfectious presentation. This case highlights the possibility of SARS-CoV-2 as a postnatal trigger and the importance of early recognition and treatment with IVIg.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1293-1300"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146131819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coenzyme Q10 Supplementation May Be Correlated With Resolution of New Daily Persistent Headache.","authors":"Mrinmayee Takle, Jeffrey Strelzik, Raquel Langdon, Abigail Turner, William McClintock, John Barber, Armelle Dejoie, Emily McCracken, Olivia Goucher, Marc DiSabella","doi":"10.1177/08830738251366866","DOIUrl":"10.1177/08830738251366866","url":null,"abstract":"<p><p>New daily persistent headache is a chronic, treatment-resistant primary headache disorder with limited guidance on effective management. Despite its significant impact on headache-related quality of life, few studies have identified targeted therapies that contribute to symptom resolution. This study aims to describe the outcomes of pediatric patients diagnosed with new daily persistent headache and assess associations between specific interventions and headache resolution. A retrospective review was conducted using data from a patient registry at Children's National Hospital. Patients diagnosed with new daily persistent headache were included. Demographic characteristics, clinical features, prior treatments, and resolution rates were analyzed. Statistical comparisons were made between patients who experienced headache resolution and those with persistence of headache. A total of 182 pediatric patients were included (mean age: 15.5 years; 78% female). Headache resolution occurred in 47 patients (25.8%). For patients whose new daily persistent headache resolved, coenzyme Q10 (CoQ10) supplementation was the only treatment that reached statistical significance, being more frequently administered in the resolved group compared with the nonresolved group (17% vs 4%, <i>P</i> = .010). Additional treatments approaching statistical significance during resolution of new daily persistent headache included magnesium (<i>P</i> = .086), topiramate (<i>P</i> = .112), and onabotulinum toxin A injections (<i>P</i> = .179). Patients who engaged in regular exercise showed a trend toward higher resolution rates (<i>P</i> = .058). CoQ10 supplementation may play a role in new daily persistent headache resolution, with potential benefit from exercise, magnesium, topiramate, and onabotulinum toxin A injections approaching significance. Further prospective studies and randomized controlled trials are needed to establish causality and optimize treatment strategies for pediatric new daily persistent headache.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1277-1282"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144955759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}