Journal of neurosurgery. Pediatrics最新文献

{"title":"Penetrating cerebrovascular injuries in a pediatric cohort with intracranial gunshot wounds: incidence, characterization of injury type, and clinical outcomes.","authors":"Roboan Guillen Arguello, Patrick J McCarty, Merritt Brown, Luciano Ponce Mejia, Frank Culicchia, Oritsejolomi A Roberts, Jerome Volk","doi":"10.3171/2025.1.PEDS24509","DOIUrl":"https://doi.org/10.3171/2025.1.PEDS24509","url":null,"abstract":"<p><strong>Objective: </strong>Firearm injuries are now the leading cause of death in children and adults younger than 25 years in the United States and are associated with high morbidity and mortality. However, literature on penetrating cerebrovascular injuries (PCVIs) after intracranial gunshot wound (GSW) injury in the pediatric population is limited. The authors investigated the incidence, radiological characteristics, and clinical outcomes associated with PCVI in children and young adults with intracranial GSW injuries.</p><p><strong>Methods: </strong>This was a retrospective cohort study of patients younger than 21 years admitted with an intracranial GSW from August 2012 to December 2022 at a single, metropolitan, level I trauma center. Univariate and multivariate logistic regression models were used.</p><p><strong>Results: </strong>A total of 147 patients presented with intracranial GSW injuries. A cohort of 96 patients (65.3%) met the inclusion criteria, of which 38 (39.6%) underwent vascular cranial imaging and were included in the analysis. The median age was 18 years (range 1-21 years), with 29 (76.3%) males and 9 (23.7%) females. The incidence of PCVI in this cohort was 44.7% (17/38), with an inpatient mortality of 47.1%. A total of 22 vascular injuries (19 [86.4%] arterial, 3 [13.6%] venous) were identified on vascular imaging, including 7 pseudoaneurysms (31.8%), 7 occlusions (31.8%), 5 transections (22.7%), 2 dissections (9.1%), and 2 arteriovenous fistulas (AVFs) (9.1%). Thirteen of 38 patients (34.2%) underwent both CT angiography (CTA) and digital subtraction angiography (DSA) during admission, and 3 of 13 (23.1%) had results that were negative on screening CTA but positive on DSA for PCVI. Patients with PCVI had twice the mortality rate compared with those without (47.1% vs 23.8%, p = 0.133). Patients without PCVI were more likely to have a favorable functional outcome (Glascow Outcome Scale score ≥ 4) compared with those with PCVI (76.2% vs 41.2%, p = 0.028). Multivariate logistic regression, adjusting for age and admission GCS score, showed injury to ≥ 3 lobes was independently associated with PCVI (adjusted OR 6.2, 95% CI 1.05-36.6, p = 0.044).</p><p><strong>Conclusions: </strong>PCVI occurred in nearly half (44.7%) of children and young adults with intracranial GSW injuries who underwent vascular imaging. PCVI could have a negative impact on functional outcomes in survivors. Early screening, repeat vascular imaging, and informed management are essential to improve outcomes.</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040546","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. Revolutionizing myelomeningocele management: challenges and opportunities.","authors":"Mari L Groves, Jeffrey P Blount","doi":"10.3171/2024.12.PEDS24614","DOIUrl":"https://doi.org/10.3171/2024.12.PEDS24614","url":null,"abstract":"","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-2"},"PeriodicalIF":2.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144000132","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":"Ultra-low-field portable MRI for assessing ventricular size in pediatric hydrocephalus: a feasibility study.","authors":"Maxwell D Gruber, Prashin Unadkat, Diego M Morales, Shivam Joshi, David D Limbrick, Mark A Mittler, Jeremy Jones, Aaron S McAllister, Jeffrey R Leonard","doi":"10.3171/2025.1.PEDS24358","DOIUrl":"https://doi.org/10.3171/2025.1.PEDS24358","url":null,"abstract":"<p><strong>Objective: </strong>Hydrocephalus, characterized by abnormal CSF accumulation, poses diagnostic and management challenges, especially in pediatric patients. Timely and accurate diagnosis is crucial for effective treatment. The aim of this study was to investigate the feasibility of using ultra-low-field portable MRI (pMRI) as a supplementary tool for assessing ventricular caliber and radiographic features of hydrocephalus, rather than as a stand-alone diagnostic modality.</p><p><strong>Methods: </strong>A single-blind prospective design across three tertiary care centers evaluated the ultra-low-field pMRI for determination of ventricular size in patients with a diagnosis of hydrocephalus or ventriculomegaly. Participants undergoing MRI using standardized protocols were consecutively recruited from neurosurgery and pediatric neurology clinics as well as the emergency department. Radiographic features were collected from both experimental and standard imaging modalities to assess ventricular morphology and diagnose hydrocephalus. The study adhered to ethical guidelines, ensuring participant privacy, confidentiality, and informed consent, with rigorous protection of protected health information and compliance with HIPAA regulations.</p><p><strong>Results: </strong>A total of 153 patients were enrolled, 53.59% of whom were male and 46.4% were female. The mean age was 9.55 ± 6.39 years. Etiologies were most commonly posthemorrhagic (27.45%), myelomeningocele (15.03%), or aqueductal stenosis (15.03%). Bland-Altman plots showed near congruent agreement between pMRI and standard of care for the Evans index and frontal occipital horn ratio (FOHR). Lin's concordance correlation coefficient showed substantial agreement between pMRI and standard-of-care imaging for both Evans index (0.922, 95% CI 0.8941-0.9428) and FOHR (0.9419, 95% CI 0.9206-0.9576).</p><p><strong>Conclusions: </strong>This study highlights the promise of low-field pMRI machines in assessing ventricular size and morphology in pediatric patients. However, pMRI should not be viewed as a stand-alone diagnostic modality for hydrocephalus but rather as a complementary tool in managing specific aspects of the condition. Further research is needed to optimize pMRI use in pediatric neuroimaging, but the accessibility, safety, and diagnostic accuracy of low-field MRI suggest that it could become a valuable addition to current imaging tools.</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064037","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":"Gamma Knife radiosurgery in a cohort of neurofibromatosis type 2-associated and sporadic pediatric meningiomas and schwannomas.","authors":"Abhijit Goyal-Honavar, Dwarakanath Srinivas, Subhas Konar, Manish Beniwal, Andiperumal Raj Prabhuraj, Arivazhagan Arimappamagan, Kannepalli V L Narasinga Rao, Sampath Somanna","doi":"10.3171/2025.1.PEDS24308","DOIUrl":"https://doi.org/10.3171/2025.1.PEDS24308","url":null,"abstract":"<p><strong>Objective: </strong>Pediatric intracranial tumors present a unique spectrum of pathology and their own challenges. However, little data are available on the use of Gamma Knife radiosurgery (GKRS) in their management. Therefore, the authors aimed to present their experience with GKRS in treating pediatric tumors, focusing on the impact of associated neurofibromatosis (NF) on the outcomes.</p><p><strong>Methods: </strong>This retrospective review assimilated data of patients ≤ 18 years old who underwent GKRS between January 2013 and December 2021 for tumors. Outcomes were compared among tumors associated with NF and those that were not.</p><p><strong>Results: </strong>Twenty-six patients were treated for 40 tumors, with a mean patient age of 15.4 ± 1.7 years. Thirteen patients were diagnosed with NF type 2 (NF2). The most frequent tumor was schwannoma (75%), followed by meningioma (25%). The mean dose delivered was 12.8 ± 2.2 Gy. After a mean follow-up of 51 months, all tumors regressed or remained stable. Regression of tumor occurred significantly more frequently among non-NF2-associated meningiomas and schwannomas (11/11, 100%) compared with 20 (68.9%) of 29 NF2-associated meningiomas and schwannomas (p = 0.036), with a significantly greater decrease in tumor volume (21.7% [IQR 14.8%-62.1%] vs 10.5% [IQR 3.4%-14.6%]; p < 0.001).</p><p><strong>Conclusions: </strong>GKRS appears to be effective in achieving tumor control in meningiomas and schwannomas in the pediatric population. Although tumor regression occurs less frequently in patients with NF2, outcomes are largely favorable, with a low rate of acute and delayed complications.</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":2.1,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009365","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":"Neuro-ophthalmological findings in pediatric ventricular shunt failure: a systematic review.","authors":"Soren Jonzzon, Anthony Price, Nina Truong, Robert P Naftel, Paul H Phillips, John C Wellons, Albert M Isaacs","doi":"10.3171/2024.12.PEDS24397","DOIUrl":"https://doi.org/10.3171/2024.12.PEDS24397","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;A hallmark feature of failed ventriculoperitoneal shunts in pediatric patients with hydrocephalus is raised intracranial pressure, necessitating immediate shunt revision or temporization to prevent significant morbidity and mortality. Neuro-ophthalmological findings (NOFs) are essential objective indicators for diagnosing shunt failure, which include papilledema, vision loss, optic disc pallor, and disturbances in ocular motility and alignment. These NOFs are also invaluable for long-term follow-up and monitoring of the progression and treatment response in hydrocephalus. However, there are nuances in their sensitivity and specificity regarding shunt failure. This study presents a systematic review of the literature on the clinical correlation between NOFs and shunt failure and their responses following treatment for hydrocephalus.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A systematic review of the literature focused on the association between NOFs and shunt failure was conducted according to established guidelines. Data were extracted from studies that included patients &lt; 21 years of age with confirmed shunt failure and reported NOFs. Shunt failure was only considered if surgery confirmed the diagnosis. Patients with idiopathic intracranial hypertension and those with ventriculoperitoneal shunt failure without documented prerevision assessment of NOFs were excluded. Descriptive statistics were reported, including percentages for categorical variables and means for continuous variables. The risk of bias was assessed for each study. A common-effects model was used to calculate pooled estimates and account for study variances, with heterogeneity assessed using the I2 statistic. Forest plots illustrated the prevalence of NOFs, overall rates, 95% confidence intervals, and contributing weights.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Four studies with 82 patients had surgically confirmed shunt failures, of whom 51 (62%) exhibited NOFs, including 17 (21%) with papilledema, 11 (13%) with cranial nerve palsy, 9 (11%) with upgaze palsy, and 14 (17%) with vision loss. Concomitant neurological symptoms were noted in 20 (24%) of those patients, including headaches (15%), nausea/vomiting (10%), and lethargy or neurological symptoms (13%). Following shunt revision, improvement in papilledema was reported in 83% of affected patients, and 92% in those with cranial nerve or upgaze palsy, but no improvement was observed in visual acuity. The overall weighted prevalence of papilledema was 30% (95% CI 0.07-0.70; I2 = 67%, p = 0.03).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;These findings advocate for the integration of neuro-ophthalmological evaluations in addition to radiographic and clinical assessments to enhance the diagnostic accuracy of shunt failures in pediatric patients with hydrocephalus. Adopting a multidisciplinary approach can augment diagnostic precision and potentially hasten the initiation of treatment for these complex and often nuanced pat","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":2.1,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026094","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 outcomes in children with tuberous sclerosis complex: a systematic review and meta-analysis.","authors":"Andrew T Hale, Cody Savage, Dagoberto Estevez-Ordonez, Tucker Oliver, Alexander Hedaya, Shelly Wang, John Ragheb, Aglaia Vignoli, Chad Carlson, Tinghong Liu, Liu Yuan, Yangshuo Wang, Srinivas Chivukula, Aria Fallah, Ismail Mohamed, E Martina Bebin, Curtis J Rozzelle, Howard L Weiner, Shuli Liang, Jeffrey P Blount","doi":"10.3171/2024.12.PEDS24311","DOIUrl":"https://doi.org/10.3171/2024.12.PEDS24311","url":null,"abstract":"<p><strong>Objective: </strong>Patients with tuberous sclerosis complex (TSC), while considered genetically homogeneous, are clinically heterogeneous and present unique challenges for epilepsy surgery evaluation and treatment. Thus, the authors' goal was to identify factors associated with seizure outcomes in children with TSC who had undergone epilepsy surgery.</p><p><strong>Methods: </strong>The PubMed, MEDLINE, Embase, CINAHL, and Web of Science databases were queried for relevant articles. Patients from the TSC Alliance registry and Children's of Alabama were also included. Eligible studies were those reporting individual participant data on the seizure outcomes of pediatric patients with TSC who had undergone epilepsy surgery. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed, and a meta-analysis was performed using a random-effects logistic regression model. Individual factors and seizure outcome following epilepsy surgery at the latest reported follow-up were tested for association. The primary outcome was a good seizure outcome, defined as Engel class I or II, International League Against Epilepsy class 1, 2, or 3, or ≤ 3 seizures per year following surgery.</p><p><strong>Results: </strong>From 44 studies eligible for systematic review and 2 additional sources, there were 2058 patients. Of these, 1338 (65%) patients had available surgical outcome data and a median follow-up of 2.5 years (IQR 1.0-5.0 years). Overall, 878 (66%) patients had a good seizure outcome. Such an outcome was associated with ≤ 1 visible tuber on MRI (OR 4.8, p = 0.01, 95% CI 1.44-15.94, I2 = 0%); however, a good seizure outcome was less likely in patients with no or mild cognitive delay (OR 0.52, p = 0.02, 95% CI 0.30-0.09, I2 = 11%) or in those with no or unifocal interictal scalp EEG abnormality (OR 0.36, p = 0.01, 95% CI 0.16-0.80, I2 = 24%). Preoperative IQ (treated as a continuous variable, OR 0.98, p = 0.009, 95% CI 0.96-0.99, I2 = 0%) had little to no effect on seizure outcome. Two (5%) studies met the criteria for a low risk of bias, 28 (64%) met the criteria for a moderate risk of bias, and 14 (32%) met the criteria for a serious risk of bias.</p><p><strong>Conclusions: </strong>The authors identified several factors associated with seizure outcomes in TSC patients who had undergone epilepsy surgery. However, the study findings should be interpreted with caution, as they represent an aggregation of largely retrospective cohort or case studies with a high potential for bias. Systematic review registration no.: CRD42023393588 (www.crd.york.ac.uk/prospero/).</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-13"},"PeriodicalIF":2.1,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009355","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":"Management and outcomes of pediatric traumatic brain injury in Nigeria: a systematic review.","authors":"Joshua Woo, Nicholas J Kendall, Zoey Petitt, Temitayo O Ayantayo, Olayinka Atilola, Olabamidele A Ayodele, Chiazor U Onyia, Sean C Holden-Kapshuck, Brady K Browning, Haley G Kieny, Evaristus E Nwaribe, Toyin A Oyemolade, Oluwakemi A Badejo, Toluyemi A Malomo, Elizabeth Blackwood, Megan von Isenburg, Olufemi E Idowu, Amos O Adeleye, Adefolarin O Malomo, Matthew T Shokunbi, Michael M Haglund, Alvan-Emeka K Ukachukwu","doi":"10.3171/2024.12.PEDS24437","DOIUrl":"https://doi.org/10.3171/2024.12.PEDS24437","url":null,"abstract":"<p><strong>Objective: </strong>Traumatic brain injury (TBI) is a leading cause of morbidity and mortality globally, with children in low- and middle-income countries (LMICs) contributing a sizable share. In Nigeria, where there is a large unmet need for neurosurgical interventions for pediatric TBI (pTBI), the mortality rate is reportedly higher than those of their LMIC and high-income counterparts. Thus, a comprehensive, national review of pTBI management and outcomes is needed. This study's objective was to comprehensively investigate the demographics, etiology, management, outcomes, and mortality of pTBI in Nigeria between 1962 and 2023.</p><p><strong>Methods: </strong>A systematic literature search was conducted of the PubMed, Global Index Medicus, Embase, Scopus, African Journals Online, Web of Science, and Google Scholar databases. Variables included TBI etiology, patient presentation, trauma duration before in-hospital presentation, clinical severity, treatment, outcomes, mortality, and the follow-up period, when available. Temporal trends in the pTBI literature were divided into two epochs, pre-2015 and post-2015, based on the Lancet Commission on Global Surgery report that highlighted improvements needed in surgical care, especially in LMICs.</p><p><strong>Results: </strong>After the elimination of duplicates and two independent screenings, 30 studies encompassing 2234 pediatric patients were included for data extraction. All studies were published between 1971 and 2023. The mean patient age was 7.2 (SD 4.7) years and 65.4% of the patients were male. The most common presentations were loss of consciousness (n = 441, 25.8%) and seizures (n = 234, 13.7%), and the most common etiologies were road traffic accidents (n = 903, 52.2%) and falls from height (n = 560, 32.4%). Most cases were classified as mild TBI (n = 783, 36.7%), and their share increased progressively over the time periods. Most patients received nonoperative management (n = 399, 60.1%). For those who underwent operative management, the most common procedure was a craniectomy or craniotomy (n = 99, 37.4%). Seizure disorder was the most common neurological complication. The overall weighted mortality rate was 10.2%, which remained relatively stable over the two time periods.</p><p><strong>Conclusions: </strong>This study elucidates important characteristics of pTBI patients in Nigeria and how these characteristics have changed over time. While incomplete and missing data remain a limitation, this study highlights an overall decrease in severe pTBI burden over time, with a reduction of cases attributable to road traffic accidents.</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.1,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788542","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":"Letter to the Editor. Postnatal myelomeningocele surgical outcomes in Colombia.","authors":"Manuel Pardo-Muñoz, Elena Velásquez-Neira, Alexandra Ramos-Márquez, Diego Gómez-Amarillo, Fernando Hakim, Edgar G Ordóñez-Rubiano","doi":"10.3171/2025.1.PEDS24665","DOIUrl":"https://doi.org/10.3171/2025.1.PEDS24665","url":null,"abstract":"","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-2"},"PeriodicalIF":2.1,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788576","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":"Demographic and social determinants of the interval from symptom onset to diagnosis of pediatric brain tumors: a study of the Connecticut Tumor Registry.","authors":"William A Lambert, Marcus Alexander, Jackson Ayers, Amirul Anuar, Katrina R Swett, Lou Gonsalves, Evan Cantor, Jonathan E Martin, Markus J Bookland, David S Hersh","doi":"10.3171/2024.12.PEDS24394","DOIUrl":"https://doi.org/10.3171/2024.12.PEDS24394","url":null,"abstract":"<p><strong>Objective: </strong>Pediatric patients frequently experience long intervals between the initial onset of symptoms and the diagnosis of a brain tumor. Understanding the determinants of the prediagnostic symptomatic interval (PSI) has the potential to facilitate earlier initiation of treatment. Here, the authors studied the impact of demographic factors and social determinants of health on the PSI among pediatric brain tumor patients.</p><p><strong>Methods: </strong>All pediatric patients with brain tumors included in the Connecticut Department of Public Health's Tumor Registry from 2004 to 2018 were reviewed. Demographic, clinical, and outcomes data were collected. The primary outcome was the log transformation of the PSI (ln(PSI)), which was modeled as a continuous variable. Statistical analyses included multiple linear regression models with stepwise variable selection. The Akaike Information Criterion (AIC) was used to indicate model fit, and bootstrapping was performed to validate the findings.</p><p><strong>Results: </strong>Overall, 153 patients met the inclusion criteria with a median (IQR) PSI of 30 (14-60) days. Of the tumors, 91 (59.5%) were classified as malignant and 62 (40.5%) as benign. The multivariable linear regression analysis of ln(PSI) demonstrated that longer PSI was positively associated with older age (β = 0.06, p = 0.004) and was negatively associated with Black or African American race (β = -0.64, p = 0.023), the presence of hydrocephalus on presentation (β = -0.79, p = 0.011), fatigue (β = -0.61, p = 0.047) or hemiparesis (β = -0.82, p = 0.041) as presenting symptoms, and malignant tumor behavior (β = -0.45, p = 0.042). The multiple linear regression model was statistically significant overall (F(7,145) = 5.42, p < 0.001), explaining approximately 21% of the variance ln(PSI), and bootstrapping with 1000 resamples confirmed the reliability of the regression analysis.</p><p><strong>Conclusions: </strong>Demographic factors, patterns of presentation, and tumor biology play a role in the interval between symptom onset and the diagnosis of pediatric brain tumors, with potential implications for quality of care and survival. Although this study did not identify a significant association between nondemographic social determinants of health and the PSI, additional studies are needed with more granular measures of economic stability, healthcare access and quality, education access and quality, neighborhood and built environment, and social and community context. Future efforts should target patient populations at increased risk of a prolonged PSI.</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.1,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735934","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":"Overlap of genetic factors among craniosynostosis and autism spectrum disorder: the presence of autistic cases without craniosynostosis in carriers of shared variants.","authors":"Shinji Ijichi, Naomi Ijichi, Mayuko Sakuma, Daisuke Yokoyama, Tsuneari Hayashi, Tomoya Hirota, Bryan H King","doi":"10.3171/2024.12.PEDS24296","DOIUrl":"https://doi.org/10.3171/2024.12.PEDS24296","url":null,"abstract":"<p><strong>Objective: </strong>A significant overlap of the risk genes respectively listed for craniosynostosis and autism was recently demonstrated in each case series. The purposes of this article were to review the clinical manifestations systemically in previously reported individual cases with the shared variants and to confirm the pleiotropic associations between genotype and phenotype.</p><p><strong>Methods: </strong>The risk genes or loci were retrieved from the PubMed database (last searched March 2024) as genetic factors for which genotype-phenotype associations were reported in at least 2 different individuals. Clinical details were reviewed in cases with shared genetic factors between craniosynostosis and autism spectrum disorder. In the genotype-phenotype association of syndromic craniosynostosis genes, both syndromic involvement of autistic traits and nonsyndromic autism cases with nonsyndromic variants in the flanking regions of the syndromic mutations were included.</p><p><strong>Results: </strong>Nonsyndromic craniosynostosis and autism are both underpinned by complex polygenic networks that include multiple risk genes or loci, and a considerable part of the networks might overlap. Although nonsyndromic mild trigonocephaly and autism might be closely associated in carriers of the shared variants, the presence of cases with autism without mild trigonocephaly was confirmed in a PJA1 variant case. As one of the characteristics of epistasis, ethnic specificity has been demonstrated in the interactions between SMAD6 and BMP2 variants. The presence of autism cases without craniosynostosis on a shared genetic basis was also confirmed in syndromic craniosynostosis risk genes and loci, suggesting that the causal relationship from craniosynostosis to autism is unnecessary for the development of autism spectrum disorder.</p><p><strong>Conclusions: </strong>Regarding the 3 possibilities of the association between craniosynostosis and neurodevelopmental comorbidities proposed by Kapp-Simon's group, only the independent pathway theory can explain the genotype-phenotype findings. There is no causal relationship between craniosynostosis and autism spectrum disorder in the independent pathway theory. Because the mechanical hindrance of brain expansion from poor compliance of the affected cranial vault is less likely in mild craniosynostosis cases, surgical indication of cranioplasty for mild trigonocephaly should never be confused with that of overt craniosynostosis. If there is no cosmetic indication for the metopic ridge in mild trigonocephaly cases with developmental comorbidities, there is no reason for surgical intervention.</p>","PeriodicalId":16549,"journal":{"name":"Journal of neurosurgery. Pediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.1,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735948","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}