Pediatric neurology最新文献

{"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}

{"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}