Pediatric neurology最新文献

{"title":"Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy","authors":"Ashwin Vivek Sardesai DCH, DNB,&nbsp;Mahesh Kamate MD, DM","doi":"10.1016/j.pediatrneurol.2025.06.023","DOIUrl":"10.1016/j.pediatrneurol.2025.06.023","url":null,"abstract":"<div><h3>Background</h3><div>Recent studies indicate that a significant number of patients with cerebral palsy (CP) may have a genetic cause. However, data from India are limited, where inheritance patterns are likely to be different. We examined the yield of next-generation sequencing in identifying the genetic causes of CP in children with unclear etiology and described the genetic spectrum found.</div></div><div><h3>Methods</h3><div>Whole-exome sequencing (WES) was performed on 71 children with CP (aged under 18 years, with a stable, nonprogressive course) in whom no acquired cause was identified clinically or radiologically.</div></div><div><h3>Results</h3><div>The yield of WES was 53.52% (38 of 71 cases) for pathogenic (P) and likely-pathogenic (LP) variants, and 78.87% when including variants of uncertain significance. We identified 54 variants (12 P, 24 LP, and 18 variants of uncertain significance) across 46 genes, along with two pathogenic copy number variants in 38 of the 71 cases. Genes such as <em>AP4M1, ACSF1, AP4S1,</em> and <em>HACE1</em> showed P/LP variants in more than 1 case. The most common inheritance pattern (found in 30 of 38 cases) was autosomal recessive (78.95%), mainly due to high consanguinity in the cohort [53 of 71 (74.65%)]. We identified nine hereditary spastic paraplegia genes in 13 patients, three cases with Aicardi-Goutières syndrome genes, and four with genes associated with congenital disorders of glycosylation. The genes exhibited diverse pathogenic mechanisms, reflecting the heterogeneity of CP genes.</div></div><div><h3>Conclusions</h3><div>Careful selection of cohorts can enhance the genetic yield of WES in CP. Autosomal recessive variants are more common in populations with high rates of consanguinity.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 1-7"},"PeriodicalIF":2.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721737","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":"Epilepsy Surgery in Tuberous Sclerosis Complex: A TSC Natural History Database Study","authors":"Ajay Gupta MD ,&nbsp;Honglian Huang MD ,&nbsp;Nicolas R. Thompson MS ,&nbsp;Lara Jehi MD ,&nbsp;Demitre Serletis MD, PhD ,&nbsp;William E. Bingaman MD ,&nbsp;Nitin Agarwal MD","doi":"10.1016/j.pediatrneurol.2025.07.004","DOIUrl":"10.1016/j.pediatrneurol.2025.07.004","url":null,"abstract":"<div><h3>Background</h3><div>Only small series from tertiary care centers inform us on epilepsy surgery in tuberous sclerosis complex (TSC). The generalizability of these results to the wider epilepsy surgery community is unclear.</div></div><div><h3>Methods</h3><div>Epilepsy surgery data were collected from the National TSC Natural History Database (TSCNHD). Resective outcomes were also compared with a palliative procedure, namely, corpus callosotomy (CC). Proportional odds logistic regression and Poisson regression analyses were used.</div></div><div><h3>Results</h3><div>Of 2059 patients, 229 (13%) had epilepsy surgery at mean age 7.3 years. Common surgeries included tuberectomy/sublobar resection (44%) and lobectomy/multilobar resection (40%). Use of positron emission tomography (PET) (24%), single-photon emission computed tomography (SPECT) (20%), and magnetoencephalography (MEG) (29%) was low. Invasive long-term video electroencephalography was used in 29%. At mean follow-up of 6.8 years, good outcomes were noted in 56 (41%), moderate in 33 (24%), and poor in 49 (35%) patients. Compared with CC, tuberectomy/sublobar resection (odds ratio [OR], 11.58) and lobectomy/multilobar resection (OR, 5.99) were associated with good outcomes. When compared with CC, most antiseizure medication (ASM) reduction occurred in patients after tuberectomy/sublobar resection (<em>P</em> = 0.040).</div></div><div><h3>Conclusions</h3><div>Most TSC epilepsy surgeries in the United States were performed without use of PET, SPECT, or MEG. Lower rates of “good” seizure outcomes were observed in this real-world study when compared with previously published outcomes from tertiary care epilepsy centers. Best seizure outcomes were reported after a single tuber and lobar/multilobar resection with a high likelihood of ASM reduction on follow-up. TSCNHD provides a proof of concept in studying surgery outcomes in rare genetic diseases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 28-33"},"PeriodicalIF":2.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750816","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 Case of Wernicke-Korsakoff Encephalopathy in a Child With Refractory Epilepsy on Ketogenic Diet","authors":"Frances K. Hanson MD,&nbsp;Samantha Cermignano MD,&nbsp;Matei S. Petrescu MD,&nbsp;Sreenivas K. Avula MD","doi":"10.1016/j.pediatrneurol.2025.07.001","DOIUrl":"10.1016/j.pediatrneurol.2025.07.001","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 8-10"},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721738","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":"Fast-Sequence Limited Magnetic Resonance Imaging Brain Protocol for Surveillance for Subependymal Lesions and Associated Hydrocephalus in Pediatric Tuberous Sclerosis Complex","authors":"Alp Oztek MD ,&nbsp;Elizabeth Tang MD ,&nbsp;Susanne Yoon MD ,&nbsp;Dennis Shaw MD ,&nbsp;Stephanie Randle MD","doi":"10.1016/j.pediatrneurol.2025.07.003","DOIUrl":"10.1016/j.pediatrneurol.2025.07.003","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is a genetic disorder that can cause multiorgan hamartomas. The brain is often affected by cortical tubers, subependymal nodules, and subependymal giant cell astrocytoma (SEGA). Consensus guidelines recommend frequent brain magnetic resonance imaging (MRI), in the pediatric population, to monitor for SEGA. This study compares the effectiveness of fast-sequence nonsedated limited MRI with standard MRI.</div></div><div><h3>Methods</h3><div>Fifty-one patients with TSC had both MRIs. Two attending pediatric neuroradiologists measured subependymal lesions, lateral ventricle diameter, and changes in measurements compared with the most recent prior MRI.</div></div><div><h3>Results</h3><div>Sixty-five percent of patients required sedation for standard MRI. The mean age was 8.7 years. There was no significant difference between radiologists in identifying SEGA or measuring lateral ventricle size, regardless of imaging type. However, Radiologist A measured subependymal lesions smaller than Radiologist B. There was a statistically significant difference in lesion measurement on the anteroposterior (AP) view, with an average 0.6 mm smaller (<em>P</em> = 0.028) on limited MRI compared with standard MRI. There was no significant difference in the transverse view measurement (<em>P</em> = 0.77) or lateral ventricle size (<em>P</em> = 0.57). Additionally, there was no significant difference in the percent change of subependymal lesions over time between the two imaging types (transverse view <em>P</em> = 0.95, AP view <em>P</em> = 0.52).</div></div><div><h3>Conclusions</h3><div>Limited MRI reduces health care costs, repetitive sedation, and MRI scanner time, overall requiring less hospital resources. Limited MRI is clinically similar in accuracy to standard MRI. Limited MRI should be incorporated in the assessment of SEGA in pediatric TSC.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 21-27"},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144739291","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(25)00194-8","DOIUrl":"10.1016/S0887-8994(25)00194-8","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570575","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":"Survey of Child Neurologists Highlights a Missed Opportunity for Identifying and Treating Motor Impairments in Autism","authors":"Harika Kottakota MD ,&nbsp;Emily Hotez PhD ,&nbsp;Rujuta B. Wilson MD, MS","doi":"10.1016/j.pediatrneurol.2025.06.025","DOIUrl":"10.1016/j.pediatrneurol.2025.06.025","url":null,"abstract":"<div><h3>Background</h3><div>Motor impairments, such as motor delays, atypical gait, dyspraxia, and poor coordination, are highly prevalent among individuals with autism spectrum disorder (ASD). Motor impairments are detrimental to multiple aspects of development but are often underdiagnosed and undertreated in children and adolescents with ASD. Child neurologists are specialists who provide clinical care for autistic patients across the lifespan. However, little is known about how child neurologists understand, diagnose, and treat motor impairments in children with ASD.</div></div><div><h3>Methods</h3><div>In this preliminary study, we surveyed child neurologists (N = 100) on their knowledge of and clinical practices addressing motor impairments in pediatric patients with ASD. Our survey also sought to identify potential barriers to care and medical education efforts that may mitigate existing gaps.</div></div><div><h3>Results</h3><div>We found most child neurologists were not confident that motor impairments were an associated feature of ASD, do not frequently evaluate for motor impairments, lack sufficient tools for motor evaluations with autistic children, face multiple barriers to providing interventions, and do not receive adequate clinical training regarding this topic.</div></div><div><h3>Conclusions</h3><div>These preliminary findings suggest that substantial gaps in awareness about motor impairments in ASD persist among practicing child neurologists. Though child neurologists are trained to assess motor function, our results highlight a missed opportunity in the setting of ASD. Child neurologists would benefit from greater attention and resources to learn, evaluate, and treat motor impairments as part of holistic patient care for individuals with ASD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 11-20"},"PeriodicalIF":2.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722234","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":"Successful Treatment of Pediatric Neurosarcoidosis With Corticosteroids, Infliximab, and Methotrexate","authors":"Ruixiang Sun MD ,&nbsp;Andrea Bakker MD ,&nbsp;Rebeka Stevenson MD ,&nbsp;Xing-Chang Wei MD ,&nbsp;Kristine Woodward MD ,&nbsp;Juan Pablo Appendino MD","doi":"10.1016/j.pediatrneurol.2025.06.024","DOIUrl":"10.1016/j.pediatrneurol.2025.06.024","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 110-112"},"PeriodicalIF":3.2,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655471","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":"Predictors of Seizure Outcome After Epilepsy Surgery in Pediatric Patients With Low-Grade Developmental and Epilepsy-Associated Brain Tumors","authors":"Florian Mayer MD ,&nbsp;Matthias Tomschik MD ,&nbsp;Johannes Zielke MD ,&nbsp;Magdalena Vass MSc, MD ,&nbsp;Birgit Pimpel MD, PhD ,&nbsp;Katharina Moser MD ,&nbsp;Sarah Glatter MSc, MD ,&nbsp;Gregor Kasprian MBA, MD ,&nbsp;Amedeo A. Azizi MD ,&nbsp;Johannes Gojo BSc, MD, PhD ,&nbsp;Christian Dorfer MBA, MD ,&nbsp;Karl Roessler MD ,&nbsp;Martha Feucht MD","doi":"10.1016/j.pediatrneurol.2025.06.021","DOIUrl":"10.1016/j.pediatrneurol.2025.06.021","url":null,"abstract":"<div><h3>Background</h3><div>Low-grade developmental and epilepsy-associated brain tumors (LEATs) are common causes of childhood-onset drug-resistant focal epilepsies. Although epilepsy surgery shows favorable outcomes in most patients, approximately 20%-30% of them do not become seizure free. This study aimed to identify predictors of postoperative outcomes and seizure recurrence, either spontaneously or after antiseizure medication (ASM) tapering, in a pediatric cohort with LEATs.</div></div><div><h3>Methods</h3><div>This retrospective cohort study included pediatric patients with LEAT-associated epilepsy who underwent preoperative evaluation and epilepsy surgery at the Medical University of Vienna pediatric epilepsy center from 1993 through 2023. We analyzed the impact of clinical and demographic parameters on spontaneous- or ASM-reduction-related seizure recurrence.</div></div><div><h3>Results</h3><div>In total, 82 patients were included. The median age at surgery was 10.2 years (interquartile range [IQR], 5.3-14.0) and the median follow-up was 60 months (IQR, 36-120); 74.4% of patients became seizure free. ASM discontinuation was successful in 80% of cases. Despite incomplete resections being the strongest predictor of unfavorable outcomes at final follow-up (odds ratio, 53.5; 95% confidence interval = 8.5-337.1; <em>P</em> &lt; 0.001), 33% of patients with unfavorable outcomes had undergone complete resections. These patients had a significantly longer epilepsy duration before surgery than those with incomplete resections and unfavorable outcomes (84.1 vs 12.9 months; <em>P</em> = 0.02).</div></div><div><h3>Conclusions</h3><div>Complete tumor resection is essential in patients with LEATs. However, especially in patients with longer epilepsy duration, the epileptogenic zone may exceed the epileptogenic lesion, and exclusive resection of the tumor may therefore not be sufficient to achieve seizure freedom. This fact underscores the importance of early preoperative evaluation.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 120-127"},"PeriodicalIF":3.2,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655470","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":"Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study","authors":"Lisa B.E. Shields MD ,&nbsp;Seema Shahi MD ,&nbsp;Grae McCarty BS ,&nbsp;Megana Iyer BS ,&nbsp;Emily Singer MD ,&nbsp;Cemal Karakas MD","doi":"10.1016/j.pediatrneurol.2025.06.019","DOIUrl":"10.1016/j.pediatrneurol.2025.06.019","url":null,"abstract":"<div><h3>Background</h3><div>To assess the prevalence, clinical characteristics, and outcomes of epileptic spasms (ES) in patients with septo-optic-pituitary dysplasia (SOD).</div></div><div><h3>Methods</h3><div>A retrospective chart review was conducted on patients aged &lt;21 years diagnosed with both SOD and ES between 2012 and 2023. Clinical and neuroimaging data were analyzed, as well as electroencephalographic (EEG) findings and long-term outcomes.</div></div><div><h3>Results</h3><div>Among 105 patients with SOD, seven (6.7%) were diagnosed with ES. The mean age of ES onset was 8.2 months (range: 0.1-13.3 months), with a female predominance (71.4%). Neuroimaging revealed optic nerve hypoplasia, an absent septum pellucidum, and schizencephaly in all patients. A dysplastic corpus callosum and a small pituitary gland size were noted in one (14.3%) patient. Two (28.6%) patients had comorbid diabetes insipidus. All patients experienced severe developmental delays and were nonverbal and nonambulatory. EEG analysis showed a hypsarrhythmia pattern in four (57.1%) cases. The mean age at last follow-up was 9.9 years (range: 4.6-15.6 years). All patients developed drug-resistant epilepsy; only one had complete resolution of the seizures. Five (71.4%) patients developed Lennox-Gastaut syndrome (LGS).</div></div><div><h3>Conclusions</h3><div>ES have a relatively high prevalence, occurring in 6.7% of patients with SOD, and are linked with significant neurodevelopmental delays and a high risk of progression to LGS. Clinicians should maintain a high index of suspicion for ES in patients with SOD, as early identification and management may impact long-term neurodevelopmental outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 98-105"},"PeriodicalIF":3.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144631598","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":"Increased Periventricular Inflammation and Toll-Like Receptor-4 Expression Is Present in Early Congenital Hydrocephalus","authors":"Victor M. Lu MD, PhD ,&nbsp;Rosa I. Muñoz PhD ,&nbsp;Karin Vío PhD ,&nbsp;Monserrat Guerra PhD","doi":"10.1016/j.pediatrneurol.2025.06.022","DOIUrl":"10.1016/j.pediatrneurol.2025.06.022","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 118-119"},"PeriodicalIF":3.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655472","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}