Pediatric neurology最新文献

{"title":"Neuromuscular Junction Disorders in Children: Approach to Diagnosis and Management.","authors":"Can Ozlu, Martha Finch, Bridget McGowan, Abigail Schwaede, Gyula Acsadi, Nancy L Kuntz","doi":"10.1016/j.pediatrneurol.2026.08.006","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2026.08.006","url":null,"abstract":"<p><p>Neuromuscular junction disorders in children present with fatigable weakness and encompass genetic, autoimmune, and toxin-mediated subtypes. Timely and correct diagnosis is crucial as many subtypes respond to specific treatments. Congenital myasthenic syndromes may show therapeutic responses to targeted medications, but they can be misdiagnosed as congenital myopathy, neuropathy, or muscular dystrophy. Furthermore, the treatment landscape for autoimmune myasthenia gravis is rapidly expanding with complement inhibitors and neonatal fragment crystallizable receptor antagonists. In this review, we provide a framework for the clinical and electrodiagnostic approach to suspected neuromuscular junction disorders in children and summarize key findings and management strategies by subtype.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"184 ","pages":"51-60"},"PeriodicalIF":2.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888291","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}

{"title":"Early Maladaptive Schemas, Emotion Regulation Profiles, and Resistance to Interference in Adolescents With Juvenile Myoclonic Epilepsy and Pediatric Migraine: A Case-Control Study.","authors":"Mustafa Çobaner, Ali Evren Tufan, Ayşegül Danış, Yasemin İmrek, Mesut Sari","doi":"10.1016/j.pediatrneurol.2026.08.007","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2026.08.007","url":null,"abstract":"<p><strong>Background: </strong>Juvenile myoclonic epilepsy (JME) and pediatric migraine (PM) may involve emotional and executive difficulties. We compared early maladaptive schemas, emotion-regulation profiles, psychiatric symptoms, and resistance to interference among adolescents with JME or PM and healthy controls.</p><p><strong>Methods: </strong>This single-center, cross-sectional case-control study enrolled 80 adolescents: 30 with JME, 30 with PM, and 20 controls. Participants completed the Young Schema Questionnaire-Short Form 3, Regulation of Emotions Questionnaire, Brief Symptom Inventory, and Stroop Color Word Test-TBAG Form (SCWT); current psychopathology was assessed with the Kiddie Schedule for Affective Disorders and Schizophrenia for School Age Children. Primary multivariate models adjusted for age and sex, with psychopathology added in sensitivity analyses. Benjamini-Hochberg false discovery rate control was applied.</p><p><strong>Results: </strong>The mean age was 15.1 ± 1.4 years, and 62.5% were female. In the age- and sex-adjusted primary model, the diagnostic-group effect across Young Schema Questionnaire-Short Form 3, Regulation of Emotions Questionnaire, Brief Symptom Inventory, and the conventional SCWT time-difference score was not significant (Wilks λ = 0.839, F [8,144] = 1.65, P = 0.116). A refined SCWT model showed a multivariate group effect (Pillai trace = 0.130, F [4,150] = 2.60, P = 0.038); the time ratio and component-corrected score differed by group after false discovery rate control (q = 0.017 for both), with both clinical groups showing greater interference than controls and no JME-PM difference. These univariate effects persisted after additional adjustment for current psychopathology. Current psychopathology was associated with internal-dysfunctional emotion regulation (F [1,74] = 8.47, P = 0.0048, q = 0.019).</p><p><strong>Conclusions: </strong>Internal-dysfunctional emotion regulation was associated with current psychopathology across groups, supporting assessment of maladaptive emotion-regulation strategies among adolescents in child neurology settings. Refined SCWT indices showed exploratory diagnosis-related signals requiring replication in larger longitudinal samples.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"184 ","pages":"61-68"},"PeriodicalIF":2.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148892370","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}

{"title":"Traumatic Brain Injury in Children Ages 0-5 Years and Associations With Select Health Conditions and Services.","authors":"Juliet Haarbauer-Krupa, Olivia R Sappenfield, Lydie A Lebrun Harris, Elizabeth A Swedo, Laura Blackwell, Brenda Eagan- Johnson","doi":"10.1016/j.pediatrneurol.2026.08.001","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2026.08.001","url":null,"abstract":"<p><strong>Background: </strong>Young children have the highest rate of emergency department visits for traumatic brain injury and greatest risk for developmental impact. This study will estimate the prevalence of parent/caregiver-suspected and diagnosed TBI among young children and describe associations between TBI diagnosis and chronic health conditions, functional indicators, and health care access.</p><p><strong>Methods: </strong>Parents/caregivers of children aged 0-5 years responding to the 2020-2023 National Survey of Children's Health. Suspected and diagnosed TBI variables were based on responses to questions about parents'/caregivers' suspicion of their child having a brain injury, if they sought medical care, and if the health care provider provided a diagnosis. Parents/caregivers also reported on their child's additional health conditions, functional indicators, school and social factors, and health care access and service utilization.</p><p><strong>Results: </strong>Among young children, 1.0% experienced a suspected TBI in their lifetime; 0.7% were diagnosed with a TBI in their lifetime. Children with diagnosed TBI had a special health care need, developmental conditions, speech/language disorder, externalizing conditions, epilepsy, blindness or deafness, and pain. Children with a diagnosed TBI were more likely to experience activity limitations, parental aggravation, and chronic difficulty with coordination. Children with a diagnosed TBI had unmet care coordination needs, and difficulties accessing care compared among those with no suspected TBI.</p><p><strong>Conclusions: </strong>TBI in young children is associated with numerous health conditions, functional limitations, and family impacts. Parental education on TBI prevention and care seeking is essential. Educational professionals and childcare workers also benefit from education about TBI effects in this age group.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"184 ","pages":"40-48"},"PeriodicalIF":2.0,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875718","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}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(26)00201-8","DOIUrl":"10.1016/S0887-8994(26)00201-8","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"181 ","pages":"Pages A1-A2"},"PeriodicalIF":2.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148641004","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}

{"title":"Comment on \"Hospital Care for Pediatric Stroke in the United States: Resource Utilization, Charges, Comorbidities, Death, and Disability (2003-2022)\".","authors":"Vijaya Rahul Kumbhar, Shital Patel, Devraj Singh Chouhan","doi":"10.1016/j.pediatrneurol.2026.07.016","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2026.07.016","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"184 ","pages":"49-50"},"PeriodicalIF":2.0,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875712","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}

{"title":"Corrigendum to Temporary Pacemaker in a Pediatric Guillain-Barré Case With Life-Threatening Bradyarrhythmia Pediatr Neurol 177 (2026) 109-110. doi: 10.1016/j.pediatrneurol.2026.01.015.","authors":"Ömer Karaca, Gökmen Akgün, Ali Korulmaz","doi":"10.1016/j.pediatrneurol.2026.06.017","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2026.06.017","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382549","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}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(26)00169-4","DOIUrl":"10.1016/S0887-8994(26)00169-4","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"180 ","pages":"Pages A1-A2"},"PeriodicalIF":2.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148372943","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}

{"title":"Motor Function Changes in Duchenne Muscular Dystrophy: A Case Series Using Conventional and Spinal Muscular Atrophy-Based Assessments During Viltolarsen Treatment","authors":"Hideyuki Iwayama MD, PhD ,&nbsp;Shingo Numoto MD, PhD ,&nbsp;Yoshiteru Azuma MD, PhD ,&nbsp;Hirokazu Kurahashi MD, PhD ,&nbsp;Yumiko Yasue OT ,&nbsp;Hiroyuki Kawajiri PT ,&nbsp;Atsushi Yanase OT ,&nbsp;Teruyoshi Ito OT ,&nbsp;Koichi Maruyama MD, PhD ,&nbsp;Takahiro Ogawa MD, PhD ,&nbsp;Yoshinori Ito MD, PhD ,&nbsp;Akihisa Okumura MD, PhD","doi":"10.1016/j.pediatrneurol.2026.01.014","DOIUrl":"10.1016/j.pediatrneurol.2026.01.014","url":null,"abstract":"<div><h3>Background</h3><div>Motor function tests (MFTs) in Duchenne muscular dystrophy (DMD) are useful in the early stage but may miss subtle changes in the advanced stage due to floor effects. Conventional DMD-specific MFTs primarily assess proximal motor function and may not adequately detect distal motor function. Based on our clinical experience in spinal muscular atrophy (SMA), fine motor assessments such as the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) have been observed to be effective in detecting changes even in severely affected patients. Therefore, the aim of this study was to assess treatment response to viltolarsen in patients with DMD using both DMD-specific and SMA-based MFTs.</div></div><div><h3>Methods</h3><div>We retrospectively evaluated three patients with genetically confirmed DMD: two nonambulatory adolescents aged 17 and 19 years treated with viltolarsen for 36 months, and 1 ambulatory 6-year-old patient treated for 10 months, assessed at baseline and final visits using conventional DMD-specific MFTs, including time to stand from supine, 10-meter walk/run, Brooke upper extremity scale, and SMA-based MFTs such as CHOP-INTEND.</div></div><div><h3>Results</h3><div>In the ambulatory patient, the time to stand from supine showed a slight increase that did not reach the minimal clinically important difference, while the 10-meter walk/run test showed a slight decline. In contrast, both nonambulatory patients showed marked improvements in CHOP-INTEND scores, despite no change in conventional MFTs.</div></div><div><h3>Conclusions</h3><div>These findings suggest that CHOP-INTEND may capture subtle but clinically meaningful improvements in advanced-stage DMD. In conclusion, selecting stage-appropriate MFTs based on disease severity is important when evaluating treatment-related changes in patients with DMD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"178 ","pages":"Pages 1-4"},"PeriodicalIF":2.1,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146193066","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}

{"title":"Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing","authors":"Fabio Sirchia MD ,&nbsp;Silvia Kalantari MD ,&nbsp;Diana Carli MD, PhD ,&nbsp;Mariia Zadorozhna PhD ,&nbsp;Francesco Bassanese MD ,&nbsp;Erin Thorpe Venti MS, CGC ,&nbsp;Ryan J. Taft PhD ,&nbsp;Akanchha Kesari PhD ,&nbsp;Lorena Sorasio MD ,&nbsp;Vincenzo Antona MD ,&nbsp;Andrea Guala MD ,&nbsp;Agnese Feresin MD ,&nbsp;Anna Basile MSc ,&nbsp;Francesco Licciardi MD ,&nbsp;Jessica Garau PhD ,&nbsp;Paolo Gasparini MD ,&nbsp;Enrico Grosso MD ,&nbsp;Alessandro Mussa MD, PhD ,&nbsp;Giovanni Battista Ferrero MD, PhD ,&nbsp;Alfredo Brusco PhD ,&nbsp;Elisa Giorgio PhD","doi":"10.1016/j.pediatrneurol.2026.01.004","DOIUrl":"10.1016/j.pediatrneurol.2026.01.004","url":null,"abstract":"<div><h3>Background</h3><div>Many patients with rare genetic diseases remain undiagnosed or receive a molecular diagnosis only after years. In this study, we want to evaluate the usefulness of clinical genome sequencing (cGS) in a cohort of complex neuropediatric patients with undiagnosed rare genetic diseases.</div></div><div><h3>Methods</h3><div>Between 2018 and 2022, our Medical Genetics Units in Torino, Trieste and Pavia partnered with the iHope program, a philanthropic initiative by Illumina Inc., with the aim of offering family-based cGS within the Italian National Health Service (Servizio Sanitario Nazionale) diagnostic process. A multidisciplinary team of pediatricians, clinical geneticists, and molecular biologists selected 64 cases. Inclusion criteria consisted of suspicion of an ultra-rare monogenic disease and at least one negative result from a first-tier genetic test.</div></div><div><h3>Results</h3><div>A definitive molecular diagnosis was achieved in 57.8% of the patients. All patients and families underwent clinical re-evaluation to assess the diagnostic relevance of the laboratory findings, which led us to reclassify 10 variants of unknown significance as responsible for the probands' phenotypes. Diagnoses impacted patients’ management, enabling palliative care referrals, avoiding unnecessary invasive tests, and guiding follow-up treatments.</div></div><div><h3>Conclusions</h3><div>Our study confirms that the use of cGS in a rare disease setting increased the diagnostic yield even in complex cases where other methods had previously failed. We speculate that introducing cGS as first-tier test within the Italian Servizio Sanitario Nazionale might offer both diagnostic and economic advantages.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"177 ","pages":"Pages 28-45"},"PeriodicalIF":2.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081772","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}

{"title":"Prenatal Diagnosis of Spinal Muscular Atrophy Facilitates Ultrarapid Treatment After Birth","authors":"Bo Hoon Lee MD,&nbsp;Emma Ciafaloni MD","doi":"10.1016/j.pediatrneurol.2026.01.009","DOIUrl":"10.1016/j.pediatrneurol.2026.01.009","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"177 ","pages":"Pages 1-3"},"PeriodicalIF":2.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146057413","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}