Pediatric neurology最新文献

{"title":"Unravelling the Inflammatory and Metabolic Insights in Subacute Sclerosing Panencephalitis: A Prospective Multimodal Evaluation","authors":"Prashant Jauhari MD, DM ,&nbsp;Sakshi Ojha MD, DM ,&nbsp;Madhavi Tripathi MD ,&nbsp;Lata Singh PhD ,&nbsp;Vishwesh Bharadiya MBBS ,&nbsp;Amulya Gupta MBBS ,&nbsp;Parul Berry MBBS ,&nbsp;Gagneet Kaur MBBS ,&nbsp;Atin Kumar MD ,&nbsp;Ashish Upadhyay PhD ,&nbsp;Sheffali Gulati MD","doi":"10.1016/j.pediatrneurol.2025.10.012","DOIUrl":"10.1016/j.pediatrneurol.2025.10.012","url":null,"abstract":"<div><h3>Background</h3><div>This study discusses results of multimodal evaluation of biomarkers of neuroinflammation and neurodegeneration in cerebrospinal fluid (CSF) and Fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) findings in Subacute sclerosing panencephalitis (SSPE).</div></div><div><h3>Methods</h3><div>Consecutive children (3-14 years) with SSPE fulfilling the Dyken criteria during the study period (2020-2022) were enrolled. Clinical profile, radiological and electroencephalography data were chronicled. CSF interleukins (ILs) IL-4, IL-6, and IL-10; interferon-gamma; and neurofilament heavy chain (NFH) levels were analysed and compared with age matched pseudo-controls. 18F-FDG-PET imaging was performed in a subset of children who consented for the same.</div></div><div><h3>Results</h3><div>Thirty-three children with SSPE were enrolled [mean age 8.06 ± 2.67 years; males: 82%; Jabbour Stage I-6%, Stage II-67%, Stage III-27%]. Two forms of presentation were seen: short/absent stage I with early onset myoclonic jerks (N = 22; mean age of onset 7.85 ± 2.45) and prolonged stage I with late onset epilepsy (N = 11; mean age 6 ± 1.9 years, <em>P</em> = 0.03). CSF NFH was significantly elevated in SSPE [132.62 (53.6-388.9) vs 0.0 (0-16.9) pg/ml; <em>P</em> = 0.0001] compared to the pseudo-controls. CSF IL-6 (pg/ml) in 21/22 SSPE [1.72 (0.85-3.04)] children and 16/17 pseudo-controls [2.60 (1.72-3.83); <em>P</em> = 0.17] were similar. IL-4, IL-10, and interferon-gammas were undetectable in both the groups. 18F-FDG-PET showed putaminal hypermetabolism in 7/9 (78%) and thalamo-cerebellar hypometabolism in 8/9 (88%) with variable foci of cortical hypometabolism.</div></div><div><h3>Conclusions</h3><div>Elevated CSF NFH levels suggest ongoing neuronal loss in SSPE. Cell mediated immunity is altered, and active neuroinflammation (T-cell mediated) may not be contributing to the ongoing neurodegeneration. 18F-FDG-PET imaging consistently reveals putaminal hypermetabolism alongside thalamo-cerebellar hypometabolism, which may prove valuable in diagnosing challenging SSPE cases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 110-117"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145496397","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":"Diaphragm Interventions in Acute Flaccid Myelitis: A Single-Center Retrospective Case Series of Diaphragm Pacing Systems and Phrenic Nerve Transfers","authors":"Jawad M. Khalifeh MD ,&nbsp;Yilin Yang MD ,&nbsp;Cristina L. Sadowsky MD ,&nbsp;Janet M. Dean MS, RN, CPNP, CRNP ,&nbsp;Ahmet Hoke MD, PhD ,&nbsp;Daniel Lubelski MD ,&nbsp;Allan J. Belzberg MD ,&nbsp;Matthew J. Elrick MD, PhD","doi":"10.1016/j.pediatrneurol.2025.09.024","DOIUrl":"10.1016/j.pediatrneurol.2025.09.024","url":null,"abstract":"<div><h3>Background</h3><div>Acute flaccid myelitis (AFM) affects anterior horn cells of the spinal cord, leading to paralysis of proximal extremity and respiratory musculature. Patients can have chronic respiratory insufficiency and remain dependent on mechanical ventilation. We aim to report outcomes of diaphragm pacing systems (DPSs) and/or phrenic nerve transfers to augment diaphragm function in patients with AFM.</div></div><div><h3>Methods</h3><div>This is a single-center, retrospective series of patients with AFM and chronic respiratory insufficiency who underwent operative intervention to augment diaphragm function. Patients underwent placement of DPS, phrenic nerve transfer, or both. We collected information on demographics, clinical characteristics, electrodiagnostic results, and operative findings. We assessed outcomes of diaphragm ultrasound excursion and respiratory mechanics.</div></div><div><h3>Results</h3><div>Six patients underwent operative intervention between 2014 and 2023. Four (66%) were male. Median age of onset was 4.3 years (range 2.8-5.7). Median follow-up was 29.3 months (range 8.1-48). There were 5 DPS placements and 3 phrenic nerve transfer operations performed, including two patients who received both procedures. Patients who underwent DPS as the primary intervention did not show improvement attributable to pacing, as similar outcomes were observed in matched controls who did not receive interventions. One patient with complete denervation had diaphragm reanimation following phrenic nerve transfer, achieving voluntary and spontaneous respiration.</div></div><div><h3>Conclusions</h3><div>Patients with AFM and chronic respiratory insufficiency may benefit from operative intervention to improve respiratory function. DPS alone did not show consistent improvement in respiratory outcomes. Phrenic nerve transfer is feasible to reanimate the paralyzed diaphragm and restore spontaneous respiration or facilitate pacing.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 65-73"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145445616","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":"Risk of Seizures and Epilepsy in the Leukodystrophies","authors":"Ashley N. Hackett MD ,&nbsp;Helena Yan MD ,&nbsp;Katie Liu MSPH ,&nbsp;Camille Corre MD ,&nbsp;Kerry Gao BA ,&nbsp;Chloe Grzyb BS ,&nbsp;Jordan Goodman MS ,&nbsp;Daniel Kelly BS ,&nbsp;Cassandra R. Ingemansson MSN, FNP-C ,&nbsp;Gabrielle Ghabash BS ,&nbsp;Kerry DiBenardo BA ,&nbsp;Gerald V. Raymond MD ,&nbsp;William Benko MD ,&nbsp;Robert Thompson-Stone MD ,&nbsp;Ali Fatemi MD, MBA ,&nbsp;Florian S. Eichler MD ,&nbsp;Stephanie Keller MD ,&nbsp;Joshua L. Bonkowsky MD, PhD ,&nbsp;Maria Escolar MD, MS ,&nbsp;Eric J. Mallack MD","doi":"10.1016/j.pediatrneurol.2025.09.021","DOIUrl":"10.1016/j.pediatrneurol.2025.09.021","url":null,"abstract":"<div><h3>Background</h3><div>Seizures and epilepsy in leukodystrophies are poorly understood. This multisite study aimed to capture the prevalence of seizures in a nationwide cohort of patients, identify factors associated with increased seizure and epilepsy risk, and quantify prevalence of refractory seizures.</div></div><div><h3>Methods</h3><div>Retrospective data was extracted from leukodystrophy clinics across eight pediatric health centers from January 1, 2013, to March 31, 2020. Patients 18 years old and younger and diagnosed with leukodystrophy, including those identified by newborn screening, were eligible. Epilepsy was defined as two or more unprovoked seizures. Clinical variables including patient age, diagnosis, imaging features (binary: normal vs abnormal), electroencephalogram (EEG) findings, the presence/absence, and diagnoses of seizures/epilepsy were obtained.</div></div><div><h3>Results</h3><div>Data from 704 patients were analyzed. At least one seizure occurred in 29% of all patients. Epilepsy developed in 80% of patients with at least one seizure. EEG abnormalities were present in 84% of patients with seizures versus 54% without (<em>P</em> &lt; 0.001). In a multivariate analysis of seizure risk, higher increased likelihoods were associated with every one-year increase in age (1.13 times higher; 95% confidence interval [CI]: [1.07, 1.19], <em>P</em> &lt; 0.001), generalized epileptiform discharges (13.4 times higher; 95% CI: [2.22, 259], <em>P</em> = 0.019), focal and multifocal epileptiform discharges (3.56 times higher; 95% CI: [2.04, 6.36], <em>P</em> &lt; 0.001), and focal slowing (3.57 times higher; 95% CI: [1.58, 8.58], <em>P</em> = 0.003). Diffuse slowing was not significantly associated with seizure in the multivariate analysis (odds ratio 1.45, 95% CI: [0.85, 2.45], <em>P</em> = 0.170). In a comparison of different pathological classifications, seizures, but not epilepsy, were more common in astrocytopathies compared to myelinopathies (seizures 41% vs 28%, <em>P</em> = 0.046; epilepsy 89% vs 79%, <em>P</em> = 0.376). Two or more antiseizure medications were required to control seizures in multiple leukodystrophies.</div></div><div><h3>Conclusions</h3><div>Age, focal slowing, and epileptiform discharges, but not generalized slowing or abnormal brain magnetic resonance imaging, were significant predictors for seizure in this population. Patients with generalized discharges have a higher risk of seizures compared to those with focal discharges. Seizure burden, age at first seizure, number of antiseizure medications needed, and presence of EEG abnormalities vary based on underlying leukodystrophy. Our findings suggest the need for targeted strategies for monitoring seizures and epilepsy in the leukodystrophies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 20-28"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145409403","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":"January Editorial","authors":"","doi":"10.1016/j.pediatrneurol.2025.11.022","DOIUrl":"10.1016/j.pediatrneurol.2025.11.022","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Page A6"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681425","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":"Infants and Toddlers With Moderate-To-Severe Cerebral Palsy Receive Very Low Doses of In-Person Rehabilitation","authors":"Rachel Bican PT, DPT, PhD ,&nbsp;Jill Heathcock PT, MPT, PhD","doi":"10.1016/j.pediatrneurol.2025.10.009","DOIUrl":"10.1016/j.pediatrneurol.2025.10.009","url":null,"abstract":"<div><h3>Background</h3><div>Dose of rehabilitation services is important for optimizing developmental outcomes for children with cerebral palsy (CP). However, little is known about how much in-person rehabilitation infants and toddlers with CP currently receive, and how dose relates to function. The purpose of this study is to describe the dose of in-person rehabilitation services received by infants and toddlers with CP and to evaluate the relationship between physical therapy (PT) dose, age, and gross motor function.</div></div><div><h3>Methods</h3><div>We enrolled 53 participants (6 months-2 years old) with moderate-to-severe CP, defined as Gross Motor Function Classification System levels III–V. Parent-reported data on outpatient and early intervention PT, occupational therapy, and speech-language pathology services over the past 6 months were used to calculate monthly service dose. The Gross Motor Function Measure, 88-item was administered to quantify motor function.</div></div><div><h3>Results</h3><div>Participants received very low doses of therapy across disciplines. The mean total hours of rehabilitation services the participants received were between 0.4 and 3.0 hours per discipline per month. Combined in-person services averaged less than 9 total hours per month. There was no relationship found between the total hours of PT the child received and their age (<em>P</em> = 0.27, F = 1.22) or gross motor function (as measured by the Gross Motor Function Measure, 88-item) (<em>P</em> = 0.82, F = 0.05).</div></div><div><h3>Conclusions</h3><div>Infants and toddlers with moderate-to-severe CP receive low doses of in-person rehabilitation, and the dose of PT does not appear to be individualized based on age or functional severity. These findings suggest a need for more tailored, intensive, and family-centered rehabilitation planning in early childhood.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 91-96"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468461","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":"Powassan Encephalitis: A Unique Endophenotype in 2 Cases","authors":"Aaron J. Hauptman MD ,&nbsp;Molly Wilson-Murphy MD ,&nbsp;James H. Powers MD ,&nbsp;Tamar Katz MD, PhD","doi":"10.1016/j.pediatrneurol.2025.10.007","DOIUrl":"10.1016/j.pediatrneurol.2025.10.007","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 97-100"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468460","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":"Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular Events","authors":"Liene Thys MD ,&nbsp;Diane Beysen MD, PhD ,&nbsp;Sandra Kenis MD ,&nbsp;Lieve Verstraete MD ,&nbsp;Sabine Laroche MD ,&nbsp;Sven Dekeyzer MD ,&nbsp;Katrien Janssens PhD ,&nbsp;Marije Meuwissen MD, PhD","doi":"10.1016/j.pediatrneurol.2025.09.023","DOIUrl":"10.1016/j.pediatrneurol.2025.09.023","url":null,"abstract":"<div><h3>Background</h3><div>Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder resulting from damage to the developing brain. While perinatal ischemic and hemorrhagic cerebrovascular events are well-established causes, the potential genetic contribution to these injuries remains underexplored. This study investigated the role of genetic factors in a selected CP cohort secondary to perinatal cerebrovascular injury and explored helpful clinical characteristics that may guide genetic evaluation.</div></div><div><h3>Methods</h3><div>Chromosomal microarray and exome sequencing were performed in 61 individuals diagnosed with CP secondary to perinatal cerebrovascular injury, of which 37 with ischemic and 24 with hemorrhagic brain injury.</div></div><div><h3>Results</h3><div>A genetic diagnosis was established in five out of 61 cases (8.2%) with a striking difference between the hemorrhagic and ischemic groups: four out of 24 cases (16.7%) with hemorrhagic injury had a confirmed genetic diagnosis compared to only one out of 37 (2.7%) in the ischemic group. Three hemorrhagic cases carried (likely) pathogenic variants in <em>COL4A1</em>. One additional case carried a <em>de novo</em> 12pter duplication, a previously unreported association with perinatal brain hemorrhage. The single diagnosis in the ischemic group was a mosaic <em>JAG1</em> variant related to Alagille syndrome.</div></div><div><h3>Conclusions</h3><div>Our findings underscore the value of genetic testing in children with CP due to perinatal hemorrhagic brain injury, with a seemingly important role for <em>COL4A1</em>. Less diagnoses were made in the ischemic group, suggesting a potential multifactorial underlying pathophysiology. Further research in larger cohorts and by using genome-wide technologies is essential in further elucidating the genetic architecture of perinatal cerebrovascular injury.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 1-7"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145365697","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":"Involvement of the Posterior Visual Pathway Correlates With Higher-Order Visual Impairment in Childhood Stroke Participants Detected by Virtual Reality/Eye-Tracking Paradigm","authors":"Emily Da Cruz BS ,&nbsp;Diana Tambala MD ,&nbsp;Anna Lynch BA ,&nbsp;Claire Manley BA ,&nbsp;Melissa Bambery BS ,&nbsp;Daniel Kelly BS ,&nbsp;Carrie Chui MD ,&nbsp;Kenda Alhadid MD, MSc ,&nbsp;Alyssa W. Sullivan PhD ,&nbsp;Julie Grieco PsyD ,&nbsp;Benjamin Ondeck BS ,&nbsp;Arne Lauer MD ,&nbsp;Lotfi B. Merabet OD, PhD, MPH ,&nbsp;Patricia L. Musolino MD, PhD","doi":"10.1016/j.pediatrneurol.2025.10.001","DOIUrl":"10.1016/j.pediatrneurol.2025.10.001","url":null,"abstract":"<div><h3>Background</h3><div>Cerebral injury due to stroke in childhood increases the risk of higher-order visual processing (HOVP) deficits, which can lead to behavioral and learning disabilities if left untreated. Using a virtual reality-based search task and structural magnetic resonance imaging analysis, we assess the extent of functional vision deficits in childhood stroke participants and potential anatomical correlates.</div></div><div><h3>Methods</h3><div>Twenty childhood stroke participants and 38 unimpaired controls completed a dynamic visual search task using a virtual reality/eye-tracking (VR/ET) paradigm to quantify functional vision abilities. Virtual reality assessment measures, stroke imaging characteristics, and neuropsychological outcomes were analyzed.</div></div><div><h3>Results</h3><div>All childhood stroke participants completed the VR/ET task with success rates and task compliance in equal measure to controls, and the task demonstrated association with neuropsychological testing measures of processing speed. Less accurate search, slower fixation rates, less sensitivity to task load changes, and greater delays initiating a response to a target were observed in our stroke cohort. On magnetic resonance imaging lesion analysis, injury involving the posterior visual pathways, specifically the optic radiations, inferior longitudinal fasciculus, or superior longitudinal fasciculus, correlated with slower reaction time when controlling for age at time of testing.</div></div><div><h3>Conclusions</h3><div>Bedside VR/ET assessment in children affected by stroke can detect signs of HOVP deficits identified in neuropsychological testing. Imaging demonstrating involvement of the posterior visual pathway is strongly correlated with impaired visual tracking ability development. Our study demonstrates that injury pattern on imaging at stroke diagnosis can help identify children at risk of HOVP deficits, enabling early monitoring and accommodations facilitating functional vision development.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 37-45"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145409418","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)00359-5","DOIUrl":"10.1016/S0887-8994(25)00359-5","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages A1-A2"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681426","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 Complex Interplay of Adverse Prenatal and Neonatal Events, Genetic Predisposition, and Autism Spectrum Disorder: A Retrospective Analysis","authors":"Andrea D. Praticò MD, PhD ,&nbsp;Laura Di Stefano MD ,&nbsp;Laura Sciuto MD ,&nbsp;Claudia Di Napoli MD ,&nbsp;Basilio Pecorino MD ,&nbsp;Agata Polizzi MD, PhD ,&nbsp;Martino Ruggieri BA, MD, PhD","doi":"10.1016/j.pediatrneurol.2025.09.018","DOIUrl":"10.1016/j.pediatrneurol.2025.09.018","url":null,"abstract":"<div><h3>Background</h3><div>To evaluate the interplay of genetic predispositions and prenatal, perinatal, and postnatal risk factors in children with Level 3 Autism Spectrum Disorder (ASD).</div></div><div><h3>Methods</h3><div>This retrospective study included 77 children with Level 3-ASD from a Sicilian pediatric cohort. We systematically reviewed medical records to assess prenatal, perinatal, and postnatal risk factors, alongside genetic findings. Genetic testing included chromosomal microarray and next-generation sequencing for the identification of pathogenic or likely pathogenic variants. Statistical analyses were performed to evaluate the correlation between cumulative risk factors and positive genetic findings, focusing on the role of chromosomal copy number variations (CNVs) and point mutations.</div></div><div><h3>Results</h3><div>Of the 77 children included, 54.5% showed a positive genetic finding, including CNVs or pathogenic single-gene variants. All patients had at least one prenatal risk factor, while postnatal complications were present in 48.1%. CNV carriers exhibited a significantly higher burden of both prenatal (mean = 6.70) and neonatal (mean = 2.40) risk factors compared to other groups (<em>P</em> &lt; 0.001). Genetically positive patients had a significantly higher cumulative risk factor load than genetically negative ones (<em>P</em> = 0.0006). Low birth weight, hyperbilirubinemia, and early neurological comorbidities were significantly associated with genetic findings (odds ratio = 10.0, 7.1, and 12.0, respectively). No single risk factor significantly differentiated CNV from single-gene cases. LASSO regression identified neurological comorbidities, hyperbilirubinemia, cesarean delivery, and hypoglycemia as independent predictors of genetic positivity. Overall, genetic predisposition correlated with increased perinatal and neonatal complications.</div></div><div><h3>Conclusions</h3><div>This study highlights the multifactorial nature of ASD and supports integrating genetic and environmental assessments into early diagnostic strategies. Early genetic screening and targeted interventions in infants with multiple risk factors may aid in reducing ASD risk and improving outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"174 ","pages":"Pages 8-19"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145401549","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}