Pediatric neurologyPub Date : 2025-10-01Epub Date: 2025-07-19DOI: 10.1016/j.pediatrneurol.2025.07.008
Lynnel C Goodman, Melissa A Richard, John P Woodhouse, S Katie Z Ihnen, Jamie K Capal, Hope Northrup, Darcy A Krueger, E Martina Bebin, Joyce Y Wu, Mustafa Sahin, Deborah A Pearson
{"title":"Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures.","authors":"Lynnel C Goodman, Melissa A Richard, John P Woodhouse, S Katie Z Ihnen, Jamie K Capal, Hope Northrup, Darcy A Krueger, E Martina Bebin, Joyce Y Wu, Mustafa Sahin, Deborah A Pearson","doi":"10.1016/j.pediatrneurol.2025.07.008","DOIUrl":"10.1016/j.pediatrneurol.2025.07.008","url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis complex (TSC) is associated with higher risk of adaptive problems, behavior/emotional problems, and autism spectrum disorder (ASD). This study evaluated the adaptive and behavioral developmental trajectories of children with TSC with and without a diagnosis of ASD at 36 months.</p><p><strong>Methods: </strong>The Tuberous Sclerosis Complex Autism Center of Excellence Research Network study longitudinally assessed infants with TSC. Developmental (Mullen Scales of Early Learning), adaptive (Vineland Adaptive Behavior Scales, 2nd Edition, Survey Interview), and behavior/emotional (Child Behavior Checklist) functioning at 18, 24, and 36 months were examined in relationship to an ASD clinical diagnosis at 36 months.</p><p><strong>Results: </strong>Deficits in all adaptive functioning domains were observed starting at age 18 months among those ultimately diagnosed with ASD but were largely explained after adjustment for developmental functioning except for lower social functioning at 36 months among individuals with ASD. Behavior/emotional problems did not consistently differ at 18 or 24 months, but nearly all emotional/behavioral problem domains were more severe in the children with ASD, relative to their peers without ASD at 36 months, even after adjusting for developmental functioning. These findings were not attributable to seizure burden.</p><p><strong>Conclusions: </strong>Although children with TSC and ASD did not differ in their adaptive functioning compared with children with TSC without ASD before 36 months, by 36 months, their social adjustment and emotional/behavioral functioning was significantly poorer than their peers without ASD, underscoring the importance of early detection of developmental concerns and targeted treatments.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"54-62"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799850","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}
Pediatric neurologyPub Date : 2025-10-01Epub Date: 2025-07-22DOI: 10.1016/j.pediatrneurol.2025.07.009
Fatimah M Albazron, E Mark Haacke, Ajay Kumar, Sagar Buch, Yang Xuan, Jeong-Won Jeong, Aimee F Luat, Michael E Behen, Nore Gjolaj, Csaba Juhász
{"title":"Absence of Deep and Basal Veins Is Common and Clinically Relevant in Sturge-Weber Syndrome.","authors":"Fatimah M Albazron, E Mark Haacke, Ajay Kumar, Sagar Buch, Yang Xuan, Jeong-Won Jeong, Aimee F Luat, Michael E Behen, Nore Gjolaj, Csaba Juhász","doi":"10.1016/j.pediatrneurol.2025.07.009","DOIUrl":"10.1016/j.pediatrneurol.2025.07.009","url":null,"abstract":"<p><strong>Background: </strong>Common intracranial vascular abnormalities in Sturge-Weber syndrome (SWS) include leptomeningeal venous malformations (LVMs) and enlarged deep veins. A few small studies have reported absent deep veins in some patients. We used susceptibility-weighted imaging (SWI), a magnetic resonance imaging (MRI) sequence sensitive to detecting small veins, to evaluate deep cerebral veins and the basal vein of Rosenthal (BVR) and assess the radiological correlates and clinical impact of their absence.</p><p><strong>Methods: </strong>Fifty young subjects, including 30 patients with unilateral SWS and 20 healthy controls, underwent 3T brain MRI prospectively. The presence or absence of the internal cerebral vein (ICV), its two main tributaries, and the BVR were evaluated on SWI in all 50 subjects and correlated with other brain abnormalities and clinical symptoms in the SWS group.</p><p><strong>Results: </strong>Although deep veins and the BVR were identified bilaterally in all control subjects, absent veins were observed in 70% of patients with SWS: in the SWS-affected hemisphere, absent ICV in 15 (50%), thalamostriate vein in 11 (37%), septal vein in seven (23%), and BVR in nine (30%) patients. Absent contralateral veins were also observed. Absent veins were associated with enlarged and collateral veins. Absent BVR and ICV were associated with extensive LVM, brain atrophy, and worse motor functions (P < 0.05); absent BVR was also associated with stroke-like episodes.</p><p><strong>Conclusions: </strong>Absence of deep and/or basal cerebral veins is common in SWS and is associated with venous vascular anomalies, parenchymal damage, and motor impairment. Absent BVR may also increase the risk for stroke-like episodes.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"63-71"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812271","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}
Pediatric neurologyPub Date : 2025-09-19DOI: 10.1016/j.pediatrneurol.2025.09.010
Thomas O'Neill, Andrew J Kornberg, Eppie M Yiu
{"title":"Neuroblastic Tumor Causing Toe-Walking Without Mechanical Compression of the Spinal Cord or Nerve Roots.","authors":"Thomas O'Neill, Andrew J Kornberg, Eppie M Yiu","doi":"10.1016/j.pediatrneurol.2025.09.010","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2025.09.010","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"74-75"},"PeriodicalIF":2.1,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233175","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}
Pediatric neurologyPub Date : 2025-09-16DOI: 10.1016/j.pediatrneurol.2025.09.003
Serena M Neumann, Jonathan H Soslow, William B Burnette, Rachel E Harris, Saeed Mohammad
{"title":"Reversal of Acute Liver Injury Following Delandistrogene Moxeparvovec Gene Therapy Using Sirolimus and Immunoglobulin.","authors":"Serena M Neumann, Jonathan H Soslow, William B Burnette, Rachel E Harris, Saeed Mohammad","doi":"10.1016/j.pediatrneurol.2025.09.003","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2025.09.003","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"76-78"},"PeriodicalIF":2.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252253","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}
Pediatric neurologyPub Date : 2025-09-16DOI: 10.1016/j.pediatrneurol.2025.09.006
Sarah E O'Kelley, Jamie K Capal, Tarrant O McPherson, Kristina E Patrick, Deborah A Pearson, Peter E Davis, Kristn Currans, Anna W Byars, Brenda E Porter, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Gary R Cutter, Darcy A Krueger, E Martina Bebin
{"title":"Neurodevelopmental Outcomes From the PREVeNT Trial.","authors":"Sarah E O'Kelley, Jamie K Capal, Tarrant O McPherson, Kristina E Patrick, Deborah A Pearson, Peter E Davis, Kristn Currans, Anna W Byars, Brenda E Porter, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Gary R Cutter, Darcy A Krueger, E Martina Bebin","doi":"10.1016/j.pediatrneurol.2025.09.006","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2025.09.006","url":null,"abstract":"<p><strong>Background: </strong>Tuberous Sclerosis Complex (TSC) is associated with high prevalence of epilepsy, intellectual and developmental disability, and autism spectrum disorder (ASD). PREVeNT, a Phase IIb, multicenter, double-blind placebo-controlled trial, evaluated the efficacy of vigabatrin in preventing intellectual and developmental disability and ASD in infants with TSC. Phenotypic, developmental, and ASD-specific outcomes at 36 months are presented.</p><p><strong>Methods: </strong>Eighty-four infants with TSC were enrolled in PREVeNT across 13 TSC clinics in the United States. Participants underwent neurodevelopmental assessments at ages 6 months through 36 months. Clinical best estimate diagnosis of ASD or non-ASD along with a rating of clinical certainty was determined at 36 months.</p><p><strong>Results: </strong>Sixty-five participants completed assessments through 36 months of age. Mean cognitive scores on the Bayley-III were in the low average range at 12 months. Cognitive scores declined slightly in all groups over time. Adaptive scores were in the low average range for the seizure groups. For all neurocognitive measures, those in the watchful waiting group exhibited higher scores compared to the other cohorts. Language scores became more commensurate with cognitive scores by 36 months. The Clinical Certainty Rating was available for 58 patients, with 31% rated as having ASD; this did not differ by treatment assignment.</p><p><strong>Conclusions: </strong>No significant differences in developmental or autism-specific outcomes were seen between treatment groups, and no participants without epilepsy were diagnosed with ASD. This may be due to early detection of seizures, closer developmental monitoring and follow-up in the trial, and impacts of the pandemic on study participation.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"88-97"},"PeriodicalIF":2.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252239","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}
Pediatric neurologyPub Date : 2025-09-16DOI: 10.1016/j.pediatrneurol.2025.09.007
Matteo Palermo, Alessandro Olivi, Carmelo Lucio Sturiale
{"title":"High-Flow and Low-Flow Cerebrovascular Malformations Syndromes Associated With Klippel-Trénaunay and Parkes-Weber Syndromes. A Systematic Review.","authors":"Matteo Palermo, Alessandro Olivi, Carmelo Lucio Sturiale","doi":"10.1016/j.pediatrneurol.2025.09.007","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2025.09.007","url":null,"abstract":"<p><strong>Background: </strong>Klippel-Trénaunay syndrome (KTS) and Parkes Weber syndrome (PWS) are rare vascular disorders that share clinical features such as limb overgrowth and capillary malformations. However, they differ in the vascular flow dynamics. KTS is a low-flow malformation, while PWS is characterized by high-flow arteriovenous shunts.</p><p><strong>Methods: </strong>A systematic review of the literature was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, focusing on case reports and series describing patients with confirmed KTS or PWS and documented cerebrovascular or spinal vascular findings. Studies were analyzed for type and location of central nervous system lesions, and genetic data were reviewed where available.</p><p><strong>Results: </strong>Forty studies comprising 76 patients met inclusion criteria. In KTS (61 patients), cerebrovascular anomalies were mostly venous in nature, including developmental venous anomalies, venous malformations, and cavernomas, with no spinal arteriovenous malformations reported. In contrast, PWS (n = 15) was exclusively associated with high-flow spinal arteriovenous malformations or fistulas, primarily affecting the thoracolumbar region. No cerebral lesions were identified in PWS. PIK3CA mutations were observed in KTS cases, while Ras GTPase-activating protein 1 mutations were more common in PWS.</p><p><strong>Conclusions: </strong>Cerebrovascular findings might offer valuable diagnostic insight into distinguishing KTS from PWS. These vascular recurrent findings, coupled with genetic testing, can enhance diagnostic precision and guide appropriate management strategies for these complex vascular syndromes.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"79-87"},"PeriodicalIF":2.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252258","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}
Pediatric neurologyPub Date : 2025-09-12DOI: 10.1016/j.pediatrneurol.2025.09.004
Neepa Gurbani DO , Thomas J. Dye MD , Danielle M. Simmons PhD , John E. Pascoe MD , Jennifer Bibbins RN , Amy Cole RRT, RPGST , Lisa Mullen MHSA , Christine L. Schuler MD, MPH , Narong Simakajornboon MD
{"title":"Improving Daytime Sleepiness in Children and Adolescents With Narcolepsy: A Quality Improvement Initiative","authors":"Neepa Gurbani DO , Thomas J. Dye MD , Danielle M. Simmons PhD , John E. Pascoe MD , Jennifer Bibbins RN , Amy Cole RRT, RPGST , Lisa Mullen MHSA , Christine L. Schuler MD, MPH , Narong Simakajornboon MD","doi":"10.1016/j.pediatrneurol.2025.09.004","DOIUrl":"10.1016/j.pediatrneurol.2025.09.004","url":null,"abstract":"<div><h3>Background</h3><div>We sought to improve daytime sleepiness in pediatric narcolepsy and aimed to increase the percentage of pediatric patients with at least 30% improvement on the Epworth Sleepiness Scale (ESS), compared with baseline.</div></div><div><h3>Methods</h3><div>We convened a multidisciplinary team and used standard quality improvement (QI) methods to track and improve daytime sleepiness. Interventions included staff reminders, previsit planning tool enhancement, tracking missed visits and time to follow-up, contacting patients with missed visits, and following prescription records. We conducted Plan-Do-Study-Act cycles and created run charts to track progress.</div></div><div><h3>Results</h3><div>From August 2019 to July 2024, 105 patients with narcolepsy were seen in sleep clinic. Several process improvements were implemented. ESS completion rate increased from 60% to 75%. The proportion of patients with a clinician-documented time frame for follow-up in the electronic health record increased from 44% to 86% initially and subsequently was maintained at 77%. The percentage of patients with narcolepsy who returned to clinic within 60 days of the requested follow-up date fell during the coronavirus disease 2019 pandemic; it has since remained approximately 68%. Initially, ∼72% of patients filled prescriptions. The percentage of patients with a 30% improvement in the ESS, compared with the baseline, improved from 47% to 62%. In addition, the percentage of patients with a 10% increase in Pediatric Quality of Life Inventory screen scores was maintained at approximately 75%.</div></div><div><h3>Conclusions</h3><div>Using QI methods and various interventions, we improved daytime sleepiness scores in children and adolescents with narcolepsy. Multifaceted and creative strategies are still needed to address residual sleepiness, improve quality of life, and maximize patient safety.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 47-57"},"PeriodicalIF":2.1,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207229","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}
Pediatric neurologyPub Date : 2025-09-10DOI: 10.1016/j.pediatrneurol.2025.08.023
Adeline L. Fecker BS , Matthew K. McIntyre MD , Julia E. Babcock BS , Jenny L. Wilson MD , Gary Nesbit MD , Anthony C. Wang MD , Kelly Louise Collins MD
{"title":"Combination of Perioperative Cilostazol and Aspirin in Pediatric Moyamoya: A Case Series","authors":"Adeline L. Fecker BS , Matthew K. McIntyre MD , Julia E. Babcock BS , Jenny L. Wilson MD , Gary Nesbit MD , Anthony C. Wang MD , Kelly Louise Collins MD","doi":"10.1016/j.pediatrneurol.2025.08.023","DOIUrl":"10.1016/j.pediatrneurol.2025.08.023","url":null,"abstract":"<div><h3>Background</h3><div>Cilostazol is a phosphodiesterase III inhibitor that causes mild platelet aggregation inhibition and vasodilation. Observational studies have demonstrated benefit in adult moyamoya arteriopathy (MMA). Safety, tolerability, and efficacy of cilostazol has not been reported in pediatric MMA patients, where aspirin has been the most frequently used antiplatelet agent.</div></div><div><h3>Methods</h3><div>We reviewed pediatric patients at two institutions who received cilostazol and low-dose aspirin for MMA or steno-occlusive disease. Intraoperative complications, postoperative bleeding, and strokes were evaluated.</div></div><div><h3>Results</h3><div>We identified 13 patients between ages 6 months to 21 years, ten (77%) who started cilostazol before revascularization surgery and three (23%) who started cilostazol after surgery. No patient had an increase in ischemic symptoms after initiation of cilostazol. One patient had a spontaneous parenchymal hemorrhage intraoperatively, and one patient had postoperative strokes. Up to 1 year follow-up on cilostazol, 8 (61%) patients reported no transient ischemic attacks or strokes. In this report of cilostazol use in pediatric patients with MMA undergoing direct or indirect revascularization surgery, we observed a low rate of bleeding and other adverse events. No instances of steal phenomena from cilostazol were identified.</div></div><div><h3>Conclusion</h3><div>These data suggest that off-label cilostazol may be safely used in children with MMA. Larger studies are warranted to evaluate the safety and efficacy of cilostazol in pediatric MMA/steno-occlusive disease.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 1-4"},"PeriodicalIF":2.1,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145102736","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}
Pediatric neurologyPub Date : 2025-09-08DOI: 10.1016/j.pediatrneurol.2025.08.022
Elizabeth Scharnetzki PhD , Leah Marie Seften CCRP , Clairette Kirezi , Alexa Craig MD, MS, MSc
{"title":"Unforeseen Positive Impacts of a Neonatal Encephalopathy Teleconsultation Program: Insights From Clinicians Practicing in a Rural State","authors":"Elizabeth Scharnetzki PhD , Leah Marie Seften CCRP , Clairette Kirezi , Alexa Craig MD, MS, MSc","doi":"10.1016/j.pediatrneurol.2025.08.022","DOIUrl":"10.1016/j.pediatrneurol.2025.08.022","url":null,"abstract":"<div><h3>Background</h3><div>Virtual triaging using telemedicine has been associated with improved communication, efficiency and accessibility, and reduced costs of care delivery. The Maine Neonatal Encephalopathy Teleconsultation (Maine NET) Program was developed to provide these advantages to neonates in rural areas. In previous work, we discussed improved resource utilization, collaborative decision-making, communication, and continuity of care associated with Maine NET. Herein, we examine additional, unexpected themes related to the psychosocial impacts of Maine NET on participating clinicians.</div></div><div><h3>Methods</h3><div>We performed semistructured interviews from April 2018 to October 2022 with 16 clinicians representing all hospitals participating in Maine NET. We utilized hybrid thematic analysis to assess themes from transcribed interviews.</div></div><div><h3>Results</h3><div>Several themes of Maine NET were identified in this analysis, including reduced feelings of isolation, alleviation in intensity of time pressure, heightened stress and trauma related to caring for the newborns requiring resuscitation, increased equity and access to subspecialty care, and opportunities for education. One clinician stated that “…it's lonely at the top [when] you're in a rural community hospital running the show and it's always scary to make these big decisions…so having somebody share that … is super helpful for moral support.”</div></div><div><h3>Conclusions</h3><div>The Maine NET Program provided several unanticipated benefits to both patients and the clinicians caring for them. As rural states increasingly face health care workforce shortages, availability of teleconsultation may support physician recruitment and retention in low delivery volume hospitals as it improves care delivery and facilitates connection to pediatric specialists, reducing isolation and increasing opportunities for ongoing education.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 41-46"},"PeriodicalIF":2.1,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159600","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 Proof-of-Concept Study on Effectiveness of Nitrazepam in Resistant Infantile Epileptic Spasms Syndrome (NitRIS Trial)","authors":"Parth Lal MBBS , Sandeep Negi PhD , Kiran Prakash MD , Dipika Bansal DM , Naveen Sankhyan DM , Jitendra Kumar Sahu DM","doi":"10.1016/j.pediatrneurol.2025.09.001","DOIUrl":"10.1016/j.pediatrneurol.2025.09.001","url":null,"abstract":"<div><h3>Background</h3><div>Globally, pediatric neurologists vary in their choice of antiseizure medications for children with infantile epileptic spasms syndrome (IESS) who are resistant to hormonal and vigabatrin therapy. This trial aimed to determine whether oral nitrazepam is more effective than oral topiramate in achieving complete cessation of epileptic spasms (ES) in such cases.</div></div><div><h3>Methods</h3><div>We conducted an open-label, randomized controlled trial with a superiority hypothesis and masked end point assessments. The primary effectiveness end point was complete and sustained cessation of ES for 4 weeks, assessed at 10 weeks post-randomization. Secondary end points included electroclinical remission, time to remission, quality of life (assessed using the Hindi version of the Quality of Life of the Infant scale), autonomic tone (measured via heart rate variability), and adverse events.</div></div><div><h3>Results</h3><div>Between June 2023 and December 2024, 80 children with resistant IESS were screened and 40 (29 boys, 11 girls) were randomized to receive oral nitrazepam (0.5-3 mg/kg/day; n = 20) or topiramate (2-12 mg/kg/day; n = 20). Complete cessation of ES was achieved in 55% with nitrazepam vs 15% with topiramate (<em>P</em> = 0.019) and electroclinical remission in 45% vs 10% (<em>P</em> = 0.031). Quality of life scores favored nitrazepam (<em>P</em> = 0.023). Parasympathetic heart rate variability was significantly higher in nitrazepam responders. Sedation was more common with nitrazepam and irritability with topiramate.</div></div><div><h3>Conclusions</h3><div>Nitrazepam showed superior short-term effectiveness over topiramate in resistant IESS, with better quality of life and autonomic stability. Further research is needed to assess long-term outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 66-73"},"PeriodicalIF":2.1,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145222281","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}