Pediatric neurology最新文献

{"title":"Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences","authors":"Alfiya Fasaludeen PhD Scholar ,&nbsp;Ramshekhar N. Menon DM ,&nbsp;Manna Jose PhD ,&nbsp;Adarsh Anil Kumar MD ,&nbsp;Karamala Yalapalli Manisha DM ,&nbsp;Ashalatha Radhakrishnan MD, DM ,&nbsp;Soumya Sundaram DM","doi":"10.1016/j.pediatrneurol.2026.01.001","DOIUrl":"10.1016/j.pediatrneurol.2026.01.001","url":null,"abstract":"<div><h3>Background</h3><div>The cyclin-dependent kinase-like 5 deficiency disorder (CDD) is an ultrarare X-linked disorder causing early-onset epileptic encephalopathy and severe developmental deficits. Few studies exist on its electroclinical features, outcomes, sex differences, and neuroimaging, particularly from India. This study aims to describe the electroclinical syndrome, developmental profile, radiological findings, and outcomes in patients with CDD and to compare these factors between males and females.</div></div><div><h3>Methods</h3><div>This is a hospital-based observational study of patients diagnosed with CDD identified from a prospectively maintained registry of children with developmental and epileptic encephalopathy. Data on demographics, seizure types, epilepsy syndromes, antiseizure medications, electroencephalography findings, developmental assessments, genetic characteristics, brain magnetic resonance imaging, and outcomes were collected.</div></div><div><h3>Results</h3><div>We included 12 patients with pathogenic (9) and likely pathogenic (3) variants in cyclin-dependent kinase-like 5 (<em>CDKL5</em>), among whom seven were female. The mean age at onset of seizures was 5.95 ± 5.56 months and was higher for males than females (8.6 ± 7.23 vs 3.19 ± 2.47). The most common seizure types at onset were tonic seizures in 6 (50%) children and epileptic spasms in 4 (33.3%). Lennox-Gastaut syndrome and West syndrome were the most frequent epilepsy syndromes. The median number of seizures per person was 2.9, and the median number of antiseizure medications used was 6 during their lifetime. Magnetic resonance imaging revealed cerebral volume loss in 7 children and white matter lesions in 6. Severe developmental deficits, a Rett-like phenotype, and cortical visual impairment were observed in three-fourths of the children, and regression of milestones occurred in two-thirds. Repetitive motor behavior (<em>P</em> 0.0455) and regression (<em>P</em> 0.0101) were more common in females.</div></div><div><h3>Conclusions</h3><div>CDD causes refractory epilepsy and severe developmental deficits irrespective of the sex of the patient, variant type, and treatment.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"177 ","pages":"Pages 4-18"},"PeriodicalIF":2.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081770","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":"The Neurological Examination in the Critically Unwell Newborn Infant: A New Proforma to Aid Practice and Interpretation","authors":"Anthony R. Hart MBChB, MRCPCH, PhD ,&nbsp;Anusha Rao BSc ,&nbsp;Daniel Moat BA ,&nbsp;Tamanna Williams MBChB, MRCPCH, PhD ,&nbsp;Frances M. Cowan LRCP&SI, PhD ,&nbsp;Brigitte Vollmer MD, PhD","doi":"10.1016/j.pediatrneurol.2026.01.008","DOIUrl":"10.1016/j.pediatrneurol.2026.01.008","url":null,"abstract":"<div><h3>Background</h3><div>Previous work has shown pediatricians the neurological examination in newborn infants because they do not feel confident performing it. In a UK survey about the neurological examination in unwell newborns, 72% wanted a proforma to aid practice. Our aim was to develop a proforma to improve the neonatal neurological examination, alongside a flowchart to aid formulation of differential diagnoses and investigation plans.</div></div><div><h3>Methods</h3><div>Four perinatal neurologists and a graphic designer developed a proforma based on existing examinations and data on attitudes toward the examination in the unwell newborn. This was reviewed via qualitative focus groups and interviews with UK health professionals. Thematic analysis was used to gauge attitudes toward and improve the proforma.</div></div><div><h3>Results</h3><div>Two themes arose from the review and interviews: “Neurophobia” about the neurological assessment of the acutely unwell newborn, and ways of improving practice and confidence. Participants suggested improvements to the proforma. They reported it would allow the neurological examination to be performed consistently, and it would improve confidence, documentation, communication, and interpretation of findings.</div></div><div><h3>Conclusions</h3><div>We have developed a proforma for documenting the neurological assessment of the unwell newborn, which participants report will improve reliable identification of abnormal signs, their neuroanatomical siting and significance, and confidence in assessing an unwell newborn neurologically. The proforma is not intended to replace current examinations for the stable term or preterm newborn, for whom appropriate validated tools should be chosen. We plan to undertake further validity testing, including interobserver agreement and data on the value of the interpretive flowchart.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"177 ","pages":"Pages 19-27"},"PeriodicalIF":2.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081771","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":"A Novel Neuromodulation Method for Childhood Migraine: Comparing Noninvasive Pulsed Radiofrequency Therapy With Calcium Channel Blockers, a Randomized Controlled Trial","authors":"Canan Üstün MD ,&nbsp;Gevher Rabia Genç Perdecioğlu MD ,&nbsp;Ömer Taylan Akkaya MD ,&nbsp;Deniz Yüksel MD","doi":"10.1016/j.pediatrneurol.2025.12.011","DOIUrl":"10.1016/j.pediatrneurol.2025.12.011","url":null,"abstract":"<div><h3>Background</h3><div>This study evaluated the efficacy and safety of noninvasive pulsed radiofrequency (NiPRF) therapy for childhood migraine and compared its outcomes with calcium channel blockers (CCBs).</div></div><div><h3>Methods</h3><div>A randomized controlled trial included 60 pediatric migraine patients (7-18 years). Patients were randomized into two groups: the CCB group (n = 30), receiving 5 mg flunarizine daily for 3 months, and the NiPRF group (n = 30), undergoing three weekly sessions of transcutaneous pulsed radiofrequency to the greater occipital nerve. Headache severity and frequency were recorded using a headache diary, and migraine-related disability was assessed with the Pediatric Migraine Disability Assessment score at baseline, one month, and 3 months. Two patients in the CCB group were excluded due to elevated transaminase levels and one in the NiPRF group for incomplete sessions, leaving 57 patients for analysis.</div></div><div><h3>Results</h3><div>Both treatments significantly reduced headache frequency and headache severity from baseline at 1 and 3 months. At one month, there was no significant difference between groups. However, at 3 months, the CCB group showed greater headache frequency reduction. Pediatric Migraine Disability Assessment scores improved in both groups, with a greater reduction in the CCB group at 3 months. Two CCB patients experienced transient liver enzyme elevation, while no significant side effects were observed in the NiPRF group.</div></div><div><h3>Conclusions</h3><div>NiPRF is a safe and effective treatment for childhood migraine, with comparable short-term efficacy to CCBs. Its noninvasive nature and minimal side effects make it a promising alternative. Further studies should assess long-term efficacy and optimize protocols.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 41-47"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927905","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":"Author's Reply to: Comment on “Orthostatic Tachycardia in Children With and Without Persisting Postconcussion Symptoms Following Mild Traumatic Brain Injury: A Prospective Controlled Study”","authors":"Karen M. Barlow MBChB, MSc, PhD,&nbsp;Athena Stein MPhil, PhD","doi":"10.1016/j.pediatrneurol.2025.12.008","DOIUrl":"10.1016/j.pediatrneurol.2025.12.008","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 29-30"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927994","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":"Pain, Daily Activities, Mobility, and Psychosocial Health in Young People With Spinal Cord Injury: A Test of Biological Sex in a Moderated Mediation Analysis","authors":"James W. Varni PhD ,&nbsp;Kathy Zebracki PhD ,&nbsp;Miriam Hwang MD, PhD ,&nbsp;M.J. Mulcahey PhD ,&nbsp;Lawrence C. Vogel MD","doi":"10.1016/j.pediatrneurol.2025.12.009","DOIUrl":"10.1016/j.pediatrneurol.2025.12.009","url":null,"abstract":"<div><h3>Background</h3><div>The study tests a conceptual model in which daily activities and mobility serve as mediators or intervening variables in the association between pain intensity and psychosocial health in young people with spinal cord injury (SCI). A moderated mediation conceptual model is also tested with biological sex as the moderator variable.</div></div><div><h3>Methods</h3><div>The Pain Intensity Item, Daily Activities Scale and Mobility Scale from the Pediatric Quality of Life Inventory SCI Module and the Pediatric Quality of Life Inventory Generic Core Scales Psychosocial Health Summary Score were completed by 125 young people with SCI ages 8-24 years with an average age of 17.84 years.</div></div><div><h3>Results</h3><div>The findings demonstrate that daily activities and mobility mediate the predictive effects of pain intensity on psychosocial health in young people with SCI. For the full mediator models consisting of age, sex, race/ethnicity demographic covariates, and pain intensity, the daily activities and mobility mediation models separately accounted for 39 percent and 28 percent, respectively, of the variance in psychosocial health, representing large effect sizes. Biological sex was not found to be a significant moderator of the mediation effects, and hence the mediator effects were not conditional on biological sex.</div></div><div><h3>Conclusions</h3><div>Daily activities and mobility explain in part the mechanism of pain predictive effects on psychosocial health in young people with SCI. Targeting mediators of pain intensity on psychosocial health from the perspective of children, adolescents, and young adults with SCI may inform clinical interventions and future clinical research to improve daily functioning and psychosocial health for these young people.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 22-28"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145918188","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 “Orthostatic Tachycardia in Children With and Without Persisting Postconcussion Symptoms Following Mild Traumatic Brain Injury: A Prospective Controlled Study”","authors":"S. Dhanya Dedeepya MD ,&nbsp;Vaishali Goel PhD ,&nbsp;Nivedita Nikhil Desai MD","doi":"10.1016/j.pediatrneurol.2025.12.007","DOIUrl":"10.1016/j.pediatrneurol.2025.12.007","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 1-2"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145847725","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":"Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities","authors":"Guido Guberman MD, PhD ,&nbsp;Marcello Scala MD, PhD ,&nbsp;Pasquale Striano MD, PhD ,&nbsp;Federico Zara PhD ,&nbsp;Mariasavina Severino MD ,&nbsp;Emanuela Argilli PhD ,&nbsp;Elliott H. Sherr MD, PhD ,&nbsp;Kenneth A. Myers MD, PhD","doi":"10.1016/j.pediatrneurol.2025.12.022","DOIUrl":"10.1016/j.pediatrneurol.2025.12.022","url":null,"abstract":"<div><div><em>COL18A1</em> encodes the α1 chain of collagen type XVIII, a nonfibrillar collagen expressed in vascular and epithelial basement membranes. Biallelic pathogenic variants in <em>COL18A1</em> have been associated with Knobloch syndrome, a condition defined by ophthalmologic abnormalities, though patients often have some or all of brain malformations, epilepsy, and intellectual disability. We reviewed our research and clinical databases for patients with seizures and biallelic <em>COL18A1</em> variants suspected to be pathogenic. Three patients were identified, all of whom had epilepsy and global development impairment, with two having had developmental regression and drug-resistant seizures. None of the patients had severe ophthalmologic disease. All three patients had one heterozygous likely pathogenic frameshift <em>COL18A1</em> variant on one allele, with the other allele carrying a rare heterozygous missense <em>COL18A1</em> variant of less certain pathogenicity. These data raise the possibility that <em>COL18A1</em> disruption could produce phenotypes without severe eye abnormalities but significant neurologic dysfunction.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 64-67"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145978545","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":"Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients","authors":"Tianshuang Wang PhD,&nbsp;Shuizhen Zhou MD,&nbsp;Wenhui Li MD","doi":"10.1016/j.pediatrneurol.2025.12.027","DOIUrl":"10.1016/j.pediatrneurol.2025.12.027","url":null,"abstract":"<div><h3>Background</h3><div>The study aimed to identify the manifestation of isolated Prolyl endopeptidase-like (PREPL) deficiency in children to aid in diagnosis and early intervention.</div></div><div><h3>Methods</h3><div>We performed a retrospective cohort study, including five children genetically confirmed with PREPL gene mutations. Clinical features, genotypes, and treatment responses were analyzed.</div></div><div><h3>Results</h3><div>The study involved four girls and one boy. The major neuromuscular features were hypotonia and feeding difficulties in the neonatal period. They all had global muscle weakness. Different from typical symptoms of CMS, only one patient had transitorily unilateral mild ptosis with no obvious fluctuating nature. Minor facial dysmorphism, growth retardation (especially underweight), and significantly delayed motor development were frequently observed. One patient also showed language and cognitive development delay. In addition, two cases had a predominant decrease in insulin-like growth factor 1 at 2.3 and 1.6 years, respectively. The median age at diagnosis was 5 (1-12) months. Eight previously nondescribed mutations were detected among the five patients, in four children with compound heterozygous mutations and one child with homozygous mutations (maternal uniparental disomy). The frameshift mutation site (p. F428fs∗18) was found in two unrelated patients. All patients have received pyridostigmine treatment at median age of 6 (3-14) months. Four cases exhibited significant improvements in motor development.</div></div><div><h3>Conclusions</h3><div>Isolated PREPL deficiency is a multisystem disease more than just myasthenia. Early referral to diagnosis is crucial to enable timely initiation of treatment. Pyridostigmine is an effective treatment to improve motor development in most children. Monitoring hormone levels, including insulin-like growth factor 1, can assist in early intervention.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 68-76"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979140","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":"Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study","authors":"Jie Zhang MD ,&nbsp;Huan Yi MD ,&nbsp;Wei Yan MD,&nbsp;Xuting Chang MD,&nbsp;Xiaoqin Ruan MD,&nbsp;Jiong Deng MD,&nbsp;Xianyu Liu MD,&nbsp;Pengxia Wu MD,&nbsp;Jiayi Ma MD,&nbsp;Shangru Li MD,&nbsp;Jingmin Wang MD,&nbsp;Yuwu Jiang MD,&nbsp;Ye Wu MD","doi":"10.1016/j.pediatrneurol.2025.12.017","DOIUrl":"10.1016/j.pediatrneurol.2025.12.017","url":null,"abstract":"<div><h3>Background</h3><div>This study aims to clarify the natural course of Alexander disease and explore genotype‒phenotype correlations and prognostic factors.</div></div><div><h3>Methods</h3><div>This single-center, bidirectional cohort study included patients genetically confirmed with Alexander disease, aged between 0 and 18 years. Survival curve analysis was conducted to evaluate the acquisition and loss of motor/cognitive skills to clarify the natural course of the disease. Statistical methods such as survival curve analysis and Cox regression analysis were used to analyze genotype‒phenotype correlations and prognostic factors.</div></div><div><h3>Results</h3><div>A total of 81 patients were included. A total of 27 types of gene variants were found among all the children, with 40.7% (11/27) in the 1A domain. At the last follow-up, 12.3% (10/81) of the patients had died. Survival curve analysis for the ability of “walking without support,\" “sitting down without support,\" “holding head upright,\" “understanding and following simple instructions,\" and “saying simple words” were lost at an average age of 15.2 ± 1.2 years, 17.3 ± 1.4 years, 17.2 ± 1.3 years, 18.8 ± 14.6 years, and 18.2 ± 1.3 years, respectively. Prognostic factor analysis via Cox single-factor and multifactor regression analysis found that patients with variants of R239 had a greater incidence of poor outcome than other variants did (hazard ratio: 2.597 [95% confidence interval: 1.052, 6.409], <em>P</em> = 0.038).</div></div><div><h3>Conclusions</h3><div>The overall prognosis of Alexander disease is poor, with an average age at death of 18.6 ± 1.4 years and a high incidence of epilepsy (81.5%). Variants of R239 are potential prognostic factors for poor outcome.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 126-133"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023388","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":"Critique of Gammenthaler-Zaugg et al.'s Study on Point-of-Care Electroencephalography for Seizure Detection","authors":"Parth Aphale PhD,&nbsp;Shashank Dokania BHMS,&nbsp;Himanshu Shekhar BHMS","doi":"10.1016/j.pediatrneurol.2026.01.005","DOIUrl":"10.1016/j.pediatrneurol.2026.01.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 124-125"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023389","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}