Pediatric neurology最新文献

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Added Value of Microvascular Imaging for the Diagnosis and Monitoring of Strokes in Newborns and Infants 微血管成像在新生儿和婴儿脑卒中诊断和监测中的附加价值
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-16 DOI: 10.1016/j.pediatrneurol.2025.01.010
Santiago Martinez-Correa MD , Colbey W. Freeman MD , Wondwossen T. Lerebo PhD , Benjamin H. Taragin MD , Austin Moats MD , Sophie Haddad MD , Luis Octavio Tierradentro-Garcia MD , Misun Hwang MD
{"title":"Added Value of Microvascular Imaging for the Diagnosis and Monitoring of Strokes in Newborns and Infants","authors":"Santiago Martinez-Correa MD ,&nbsp;Colbey W. Freeman MD ,&nbsp;Wondwossen T. Lerebo PhD ,&nbsp;Benjamin H. Taragin MD ,&nbsp;Austin Moats MD ,&nbsp;Sophie Haddad MD ,&nbsp;Luis Octavio Tierradentro-Garcia MD ,&nbsp;Misun Hwang MD","doi":"10.1016/j.pediatrneurol.2025.01.010","DOIUrl":"10.1016/j.pediatrneurol.2025.01.010","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal/infantile stroke is a catastrophic condition associated with significant mortality and morbidity. Magnetic resonance imaging (MRI) remains the preferred modality for detecting ischemic stroke but has procedural limitations. Microvascular imaging (MVI) ultrasound (US) allows accurate visualization of the microvasculature. We assessed the added value of MVI to improve the detection of stroke diagnosis in neonates and infants.</div></div><div><h3>Methods</h3><div>We retrospectively identified patients younger than one year who underwent brain US with MVI for suspected or confirmed stroke between January 2020 and June 2023. All patients had confirmed strokes on US and/or subsequent computed tomography or MRI. A pediatric radiologist (reader 1), a neuroradiologist (reader 2), and a pediatric radiology fellow (reader 3), unaware of the results, individually evaluated the US images to detect strokes. We used the McNemar test to determine the difference in responses before and after MVI.</div></div><div><h3>Results</h3><div>Our cohort had 11 infants, nine boys and two girls (median age 61 days [13.5 to 145.5]). The three readers performed significantly better at stroke diagnosis with MVI (29 correct of 33) compared with grayscale US alone (13 of 33) (<em>P</em> &lt; 0.001). Reader 1 improved from seven of 11 correct diagnoses to 11 of 11 (<em>P</em> = 0.045), reader 2 improved from five of 11 to 10 of 11 (<em>P</em> = 0.025), and reader 3 improved from one of 11 to eight of 11 (<em>P</em> &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>Our preliminary findings suggest that MVI has potential as a complementary tool to standard brain US protocols for neonatal and infant stroke assessment.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 1-8"},"PeriodicalIF":3.2,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143137823","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}
引用次数: 0
Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease 卡纳万病儿童远程运动评估的可行性、可接受性和可靠性。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-11 DOI: 10.1016/j.pediatrneurol.2025.01.006
Michael Kiefer DPT, PhD , Anzalee Khan PhD , Beth Leiro PT , Christian Yavorsky PhD , Genevieve Laforet MD, PhD , Kathleen Kirby , Elise Townsend DPT, PhD
{"title":"Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease","authors":"Michael Kiefer DPT, PhD ,&nbsp;Anzalee Khan PhD ,&nbsp;Beth Leiro PT ,&nbsp;Christian Yavorsky PhD ,&nbsp;Genevieve Laforet MD, PhD ,&nbsp;Kathleen Kirby ,&nbsp;Elise Townsend DPT, PhD","doi":"10.1016/j.pediatrneurol.2025.01.006","DOIUrl":"10.1016/j.pediatrneurol.2025.01.006","url":null,"abstract":"<div><h3>Background</h3><div>Decentralized clinical trials have many advantages including reducing travel burden, improving access, and reducing costs. However, there is limited knowledge to inform the development and implementation of remote motor assessment protocols in rare pediatric diseases. This study describes a rigorous method for transitioning from in-person to remote motor assessment of children with Canavan disease.</div></div><div><h3>Methods</h3><div>Seven children with Canavan disease (mean age 2.5 years; S.D. = 1.0) and their caregivers completed four remote visits during a two-phase study. Clinical raters were trained to coach caregivers using remote administration protocols for key motor assessment tools. The feasibility, acceptability, and reliability of remote administration of the Gross Motor Function Measure-88, Hammersmith Infant Neurologic Exam Motor Milestones Part-2, Alberta Infant Motor Scale, and Infant Motor Profile were evaluated.</div></div><div><h3>Results</h3><div>In phase 1, remote assessment was feasible, with 95% (61 of 64) of motor assessments completed. Caregiver acceptability was high, with 86% of caregiver responses (n = 95 of 111) supporting the remote administration protocol. In phase 2, inter-rater reliability (intraclass correlation coefficient or Fleiss kappa &gt;0.75) was good to excellent in 15 of 20 final visit assessments. Intra-rater reliability was good to excellent in 18 of 20 pairs of assessments by visits 3 and 4.</div></div><div><h3>Conclusions</h3><div>This study highlights the value and importance of a rigorous multiphased approach to the development and implementation of remote motor assessment protocols for pediatric rare disease studies. Findings from this study support the feasibility, acceptability, and reliability of remote motor assessment in children with Canavan disease.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 129-136"},"PeriodicalIF":3.2,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075298","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}
引用次数: 0
A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype 一种新的MACF1基因突变:扩大胎儿和新生儿表型。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-10 DOI: 10.1016/j.pediatrneurol.2025.01.007
Riley Kessler MD , Morgan McManus MS , Sarah Schmidt MD , Sara Reis Teixeira MD, PhD , Francis Jeshira Reynoso Santos MD , Sonika Agarwal MBBS, MD
{"title":"A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype","authors":"Riley Kessler MD ,&nbsp;Morgan McManus MS ,&nbsp;Sarah Schmidt MD ,&nbsp;Sara Reis Teixeira MD, PhD ,&nbsp;Francis Jeshira Reynoso Santos MD ,&nbsp;Sonika Agarwal MBBS, MD","doi":"10.1016/j.pediatrneurol.2025.01.007","DOIUrl":"10.1016/j.pediatrneurol.2025.01.007","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 78-80"},"PeriodicalIF":3.2,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059508","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}
引用次数: 0
Is There a SPOT for Remote Pediatric Stroke Evaluation in the World of Telestroke Networks? A Pilot Feasibility Study of Performing the Pediatric National Institutes of Health Stroke Scale Over Televideo 在远程脑卒中网络的世界里,是否有一个远程儿童脑卒中评估点?在电视上执行儿科国立卫生研究院卒中量表的试点可行性研究。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-10 DOI: 10.1016/j.pediatrneurol.2025.01.004
Lisa Pabst MD , Melissa Chung MD , Thomas Murray DO , Melissa Hutchinson MD , Melica Nikahd MS , Guy Brock PhD , Alicia Zha MD , Warren Lo MD
{"title":"Is There a SPOT for Remote Pediatric Stroke Evaluation in the World of Telestroke Networks? A Pilot Feasibility Study of Performing the Pediatric National Institutes of Health Stroke Scale Over Televideo","authors":"Lisa Pabst MD ,&nbsp;Melissa Chung MD ,&nbsp;Thomas Murray DO ,&nbsp;Melissa Hutchinson MD ,&nbsp;Melica Nikahd MS ,&nbsp;Guy Brock PhD ,&nbsp;Alicia Zha MD ,&nbsp;Warren Lo MD","doi":"10.1016/j.pediatrneurol.2025.01.004","DOIUrl":"10.1016/j.pediatrneurol.2025.01.004","url":null,"abstract":"<div><h3>Background</h3><div>Telestroke assessments are widely used to remotely assess adults with suspected stroke, although they have not been studied in children. SPOT, the Study of Performing the PedNIHSS Over Televideo, tested the feasibility of assessing the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) by televideo in children.</div></div><div><h3>Methods</h3><div>Children aged 2 to 17 years with and without strokes were recruited and examined in the outpatient neurology clinic. The PedNIHSS was assessed by separate neurologists via televideo and at the bedside. Intraclass correlation coefficients (ICCs) were used to analyze inter-rater reliability.</div></div><div><h3>Results</h3><div>Twenty children were recruited; mean age was 9.2 years (range, 2 to 17 years). Six had chronic stroke. By bedside examination, the total PedNIHSS score ranged from 0 to 8, with a mean of 1.65. By televideo, the PedNIHSS was identical to the bedside examination in 12 of 20 (60%) of the children and identical or within 1 point in 19 of 20 (95%) with excellent overall inter-rater reliability (ICC = 0.92; 95% confidence interval: 0.81, 0.97). The mean time to complete bedside and remote examinations was 5 and 7 minutes, respectively.</div></div><div><h3>Conclusions</h3><div>Performing the PedNIHSS over televideo is feasible, accurate, and requires similar time as a bedside evaluation. Limitations of this study include a small sample size and the overall low burden of neurological deficits. Future studies assessing the reliability of performing the PedNIHSS over televideo should include children with acute neurological deficits in the acute care setting across multiple sites.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 72-77"},"PeriodicalIF":3.2,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059663","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}
引用次数: 0
Early Corticosteroid Use and Short-Term Outcomes in Pediatric Bacterial Meningitis: A Nationwide Study in Japan, 2014 to 2022 儿童细菌性脑膜炎的早期皮质类固醇使用和短期结局:日本2014 - 2022年的一项全国性研究
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-09 DOI: 10.1016/j.pediatrneurol.2025.01.002
Satoko Kameda MD , Hayato Yamana MD, MPH, PhD , Yusuke Sasabuchi MD, MPH, PhD , Nobuaki Michihata MD, MPH, PhD , Shotaro Aso MD, MPH, PhD , Hiroki Matsui MPH, PhD , Kiyohide Fushimi MD, PhD , Hideo Yasunaga MD, PhD , Takahide Kohro MD, PhD
{"title":"Early Corticosteroid Use and Short-Term Outcomes in Pediatric Bacterial Meningitis: A Nationwide Study in Japan, 2014 to 2022","authors":"Satoko Kameda MD ,&nbsp;Hayato Yamana MD, MPH, PhD ,&nbsp;Yusuke Sasabuchi MD, MPH, PhD ,&nbsp;Nobuaki Michihata MD, MPH, PhD ,&nbsp;Shotaro Aso MD, MPH, PhD ,&nbsp;Hiroki Matsui MPH, PhD ,&nbsp;Kiyohide Fushimi MD, PhD ,&nbsp;Hideo Yasunaga MD, PhD ,&nbsp;Takahide Kohro MD, PhD","doi":"10.1016/j.pediatrneurol.2025.01.002","DOIUrl":"10.1016/j.pediatrneurol.2025.01.002","url":null,"abstract":"<div><h3>Background</h3><div>The benefit of early corticosteroid use in pediatric bacterial meningitis is uncertain, except for its effect on hearing loss caused by <em>Haemophilus influenzae</em> type b (Hib) meningitis. We aimed to evaluate the association between early corticosteroid use and the short-term outcomes amid a background of decreased Hib infection incidence.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study using data from a nationwide inpatient database in Japan. We identified children younger than 15 years with bacterial meningitis who were discharged between April 2014 and March 2022. The primary outcome was a composite of in-hospital death and neurological sequelae, defined as tracheostomy during hospitalization or disturbed consciousness, mechanical ventilation, tube feeding, or antiepileptic drugs at discharge. The secondary outcome was a recorded diagnosis of hearing loss. Stabilized inverse probability of treatment weighting using propensity scores was performed to compare the outcomes between patients with and without intravenous corticosteroid use on the day of admission.</div></div><div><h3>Results</h3><div>Of the 1310 eligible patients, 454 (35%) received early corticosteroids. Overall, 170 patients (13%) had composite outcomes, including seven deaths (0.5%). Hearing loss was observed in seven patients. After propensity score weighting, no significant difference was observed between patients with and without early corticosteroid use in the composite outcome (14.2% vs 13.5%, respectively; risk difference: 0.7%; 95% confidence interval: −3.3% to 4.6%) or hearing loss (0.7% vs 0.5%, respectively; risk difference: 0.2%; 95% confidence interval: −0.7% to 1.2%).</div></div><div><h3>Conclusions</h3><div>Early corticosteroid use in children with bacterial meningitis was not associated with reduced deaths or neurological sequelae.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 97-104"},"PeriodicalIF":3.2,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075294","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}
引用次数: 0
Effectiveness of Vagus Nerve Stimulation in Patients With Dravet Syndrome: A Case Series and Meta-Analysis 迷走神经刺激对Dravet综合征患者的疗效:一个病例系列和荟萃分析。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-09 DOI: 10.1016/j.pediatrneurol.2024.12.012
Zhirong Wei MM , Tinghong Liu MM , Suhui Kuang MD , Jiaqi Wang MM , Shuli Liang PhD
{"title":"Effectiveness of Vagus Nerve Stimulation in Patients With Dravet Syndrome: A Case Series and Meta-Analysis","authors":"Zhirong Wei MM ,&nbsp;Tinghong Liu MM ,&nbsp;Suhui Kuang MD ,&nbsp;Jiaqi Wang MM ,&nbsp;Shuli Liang PhD","doi":"10.1016/j.pediatrneurol.2024.12.012","DOIUrl":"10.1016/j.pediatrneurol.2024.12.012","url":null,"abstract":"<div><h3>Objective</h3><div>This case series and meta-analysis aimed to determine effectiveness of vagus nerve stimulation (VNS) in patients with Dravet syndrome (DS).</div></div><div><h3>Methods</h3><div>All patients with DS and VNS were included in this case series. For meta-analysis, a literature search of electronic databases PubMed, Cochrane, and Embase was performed. Critical Appraisal Tools were used to evaluate study quality. Responder (&gt;50% seizure reduction from baseline) rate was the main outcome, which was quantitatively synthesized at specific follow-up points (at least six months). Subgroup analyses were conducted based on duration of epilepsy, proportion of males, and duration of follow-up. Additionally, cognitive and behavior changes were analyzed as secondary outcomes in case series only.</div></div><div><h3>Results</h3><div>Of the case series, two of four patients responded. In the meta-analysis, of 1183 studies retrieved in the initial search, nine comprising 92 patients were included. The overall responder rate reached 0.55 (95% confidence interval [CI] 0.45 to 0.64). Subgroup analyses were performed. The responder rates in groups with duration of epilepsy groups greater than or equal to six years and less than six years were 0.38 (95% CI 0.14 to 0.61) and 0.65 (95% CI 0.47 to 0.82) (<em>P</em> = 0.07). No heterogeneity was found in responder rate in groups with different proportion of males (&gt;50%, ≤50%) or two groups with different duration of follow-up (greater than or equal to three years, less than three years) (<em>P</em> &gt; 0.1).</div></div><div><h3>Conclusions</h3><div>VNS was an effective option in patients with DS who failed to respond to medications. Patients with short duration of epilepsy (less than six years) were prone to respond to VNS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 105-114"},"PeriodicalIF":3.2,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075296","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}
引用次数: 0
The Premonitory Urge to Tic in Children and Adolescents: Measuring, Describing, and Correlating 儿童和青少年抽动的前兆冲动:测量、描述和关联。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-09 DOI: 10.1016/j.pediatrneurol.2024.12.017
Liping Yu MM , Yanlin Li MM , Hanxue Yang PhD , Yonghua Cui PhD , Ying Li PhD
{"title":"The Premonitory Urge to Tic in Children and Adolescents: Measuring, Describing, and Correlating","authors":"Liping Yu MM ,&nbsp;Yanlin Li MM ,&nbsp;Hanxue Yang PhD ,&nbsp;Yonghua Cui PhD ,&nbsp;Ying Li PhD","doi":"10.1016/j.pediatrneurol.2024.12.017","DOIUrl":"10.1016/j.pediatrneurol.2024.12.017","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to explore the premonitory urges (PUs) experienced by children with tic disorders (TDs), with the aim of describing and correlating these urges with various factors.</div></div><div><h3>Methods</h3><div>First-episode and drug-naive patients with TDs were recruited. We conducted a comprehensive study utilizing the Premonitory Urge for Tics Scale to measure the severity of PUs. Regression analysis was performed to explore the relationships between PUs and other relevant factors, such as demographic characteristics, tic severity, and comorbidities.</div></div><div><h3>Results</h3><div>The linear regression model revealed that age (<em>β</em> = 0.090, <em>P</em> = 0.004), the severity of motor tics (<em>β</em> = 0.112, <em>P</em> &lt; 0.001), the severity of vocal tics (<em>β</em> = 0.074, <em>P</em> = 0.020), and the severity of tic-related impairments (<em>β</em> = 0.112, <em>P</em> = 0.001) were significant predictors of PUs.</div></div><div><h3>Conclusions</h3><div>This study provides insights into the nature of PUs in children with TD. Future research should focus on PUs across different age groups and develop and evaluate targeted treatments that aim to reduce the severity of tics.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 66-71"},"PeriodicalIF":3.2,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047366","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}
引用次数: 0
Cardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks? 心电图和超声心动图能发现潜在的危险吗?
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-07 DOI: 10.1016/j.pediatrneurol.2025.01.005
Roger Esmel-Vilomara MD , Eulàlia Turón-Viñas MD, PhD , Marta Pujol-Sanjuan MD , Simona Giorgi MD, PhD , María Pérez-Fernández RN , Alejandra Pérez-Restrepo RN, PhD , José Ángel Aibar , Susana Boronat MD, PhD
{"title":"Cardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?","authors":"Roger Esmel-Vilomara MD ,&nbsp;Eulàlia Turón-Viñas MD, PhD ,&nbsp;Marta Pujol-Sanjuan MD ,&nbsp;Simona Giorgi MD, PhD ,&nbsp;María Pérez-Fernández RN ,&nbsp;Alejandra Pérez-Restrepo RN, PhD ,&nbsp;José Ángel Aibar ,&nbsp;Susana Boronat MD, PhD","doi":"10.1016/j.pediatrneurol.2025.01.005","DOIUrl":"10.1016/j.pediatrneurol.2025.01.005","url":null,"abstract":"<div><h3>Background</h3><div>Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy associated with loss-of-function variants in the <em>SCN1A</em> gene. Although predominantly expressed in the central nervous system, <em>SCN1A</em> is also expressed in the heart, suggesting a potential link between neuronal and cardiac channelopathies. Additionally, DS carries a high risk of sudden unexpected death in epilepsy (SUDEP). This study investigates electrocardiographic (EKG) and echocardiographic findings in patients with DS to assess potential cardiac risks.</div></div><div><h3>Methods</h3><div>This prospective study recruited 34 patients with DS with confirmed <em>SCN1A</em> pathogenic variants during the 2024 family meeting of the Dravet Syndrome Foundation Spain. Participants underwent standard 12-lead EKG, high-lead EKG for Brugada pattern detection, and a standing test to evaluate QT interval response. When available, echocardiogram data were collected. QTc and P wave dispersion were calculated. To establish a basis for comparison, cases were matched with age- and sex-matched epileptic patients without DS.</div></div><div><h3>Results</h3><div>No significant EKG abnormalities suggesting long QT syndrome or Brugada syndrome were detected. However, QT and P wave dispersion, previously reported as markers of autonomic dysfunction associated with arrhythmias and SUDEP risk, were elevated. Echocardiograms in 21 patients showed normal cardiac structure, even in those on fenfluramine.</div></div><div><h3>Conclusions</h3><div>Although no significant EKG or echocardiographic abnormalities were identified, elevated QTc and P wave dispersion, along with the elevated risk of SUDEP and past reports of arrhythmias, suggest the need for continued cardiac surveillance. Further studies are essential to explore the predictive value of QTc and P wave dispersion in assessing SUDEP and arrhythmia risk, and to identify other potential cardiac markers.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 53-57"},"PeriodicalIF":3.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143040918","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}
引用次数: 0
General Movements as Predictive Tool of Neurological Outcomes in Term-Born Infants With Hypoxic-Ischemic Encephalopathy at Ages Six and 12 Months 一般运动作为6个月和12个月低氧缺血性脑病足月婴儿神经预后的预测工具。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-07 DOI: 10.1016/j.pediatrneurol.2025.01.003
Rudresh Naik MD Pediatrics (Resident) , Lokesh Saini MD Pediatrics, DM Pediatric Neurology (Associate Professor) , Christa Einspieler PhD (Professor of Physiology) , Pradeep Kumar Gunasekaran MD Pediatrics (Resident) , Kanya Mukhopadhyay MD Pediatrics, DM Neonatology (Professor) , Prahbhjot Malhi PhD (Professor) , Arushi Gahlot Saini MD Pediatrics, DM Pediatric Neurology (Associate Professor) , Rajni Sharma PhD (Child Psychologist) , Naveen Sankhyan MD Pediatrics, DM Pediatric Neurology (Professor)
{"title":"General Movements as Predictive Tool of Neurological Outcomes in Term-Born Infants With Hypoxic-Ischemic Encephalopathy at Ages Six and 12 Months","authors":"Rudresh Naik MD Pediatrics (Resident) ,&nbsp;Lokesh Saini MD Pediatrics, DM Pediatric Neurology (Associate Professor) ,&nbsp;Christa Einspieler PhD (Professor of Physiology) ,&nbsp;Pradeep Kumar Gunasekaran MD Pediatrics (Resident) ,&nbsp;Kanya Mukhopadhyay MD Pediatrics, DM Neonatology (Professor) ,&nbsp;Prahbhjot Malhi PhD (Professor) ,&nbsp;Arushi Gahlot Saini MD Pediatrics, DM Pediatric Neurology (Associate Professor) ,&nbsp;Rajni Sharma PhD (Child Psychologist) ,&nbsp;Naveen Sankhyan MD Pediatrics, DM Pediatric Neurology (Professor)","doi":"10.1016/j.pediatrneurol.2025.01.003","DOIUrl":"10.1016/j.pediatrneurol.2025.01.003","url":null,"abstract":"<div><h3>Background</h3><div>To explore the utility of general movements assessment as a predictive tool of the neurological outcome in term-born infants with hypoxic-ischemic encephalopathy (HIE) at ages six and 12 months.</div></div><div><h3>Methods</h3><div>This prospective observational study was conducted for 18 months (August 2018 to December 2019). Term-born newborns with HIE were included. General movements videos were recorded at 10 to 14 weeks (50 to 54 weeks postmenstrual age) and assessed. Further development was assessed with Developmental Assessment Scales for Indian Infants (DASII) and Ages and Stages Questionnaire, third edition, (ASQ-3) at ages six and 12 months.</div></div><div><h3>Results</h3><div>A total of 30 children were enrolled, 19 (63%) had normal fidgety movements (FMs) and 11 (37%) had absent FMs. Motor Optimality Score, Revised, (MOS-R) ranged from 6 to 8 in 11 infants with absent FMs. Among them, one had mild developmental delay (DD), two had moderate DD, and eight had severe DD on the DASII assessments (<em>P</em> &lt; 0.001). Sensitivity between absent FMs and ASQ-3 developmental scales showed that the majority with absent FMs had severe DD. Absent FMs had 81.8% sensitivity and 89.4% specificity for detecting cerebral palsy (CP) (n = 11).</div></div><div><h3>Conclusions</h3><div>The assessment of the FMs has a very good predictive value for future neurodevelopmental outcomes. MOS-R can provide a fair estimate of the functional ability of infants who later develop CP, and better MOS-R scores correlate with better outcomes. Children with absent FMs had significantly lower median motor and mental developmental quotients as calculated by DASII at both ages six and 12 months.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 58-65"},"PeriodicalIF":3.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143040927","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}
引用次数: 0
Preterm Neonates Exhibit a “Catch-Up” Pattern in Motor Development During the Neonatal Period: A Diffusion Tensor Imaging Study 早产儿在新生儿期运动发育表现出“追赶”模式:一项弥散张量成像研究。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-01-07 DOI: 10.1016/j.pediatrneurol.2025.01.001
Yuying Feng MM , Yannan Cheng MM , Xianjun Li PhD , Yao Ge MM , Congcong Liu MD , Miaomiao Wang MD , Xiaocheng Wei ME , Xiaoyu Wang MM , Qinli Sun PhD , Jie Zheng MM , Jian Yang PhD , Chao Jin PhD
{"title":"Preterm Neonates Exhibit a “Catch-Up” Pattern in Motor Development During the Neonatal Period: A Diffusion Tensor Imaging Study","authors":"Yuying Feng MM ,&nbsp;Yannan Cheng MM ,&nbsp;Xianjun Li PhD ,&nbsp;Yao Ge MM ,&nbsp;Congcong Liu MD ,&nbsp;Miaomiao Wang MD ,&nbsp;Xiaocheng Wei ME ,&nbsp;Xiaoyu Wang MM ,&nbsp;Qinli Sun PhD ,&nbsp;Jie Zheng MM ,&nbsp;Jian Yang PhD ,&nbsp;Chao Jin PhD","doi":"10.1016/j.pediatrneurol.2025.01.001","DOIUrl":"10.1016/j.pediatrneurol.2025.01.001","url":null,"abstract":"<div><h3>Background</h3><div>Preterm infants are at high risk for subsequent neurodevelopmental disability. Early developmental characterization of brain and neurobehavioral function is critical for identifying high-risk infants. This study aimed to elucidate the early evolution of sensorimotor function in preterm neonates by exploring postnatal age-related changes in the brain white matter (WM) and neurobehavioral abilities.</div></div><div><h3>Methods</h3><div>One hundred eighteen neonates without abnormalities on magnetic resonance imaging were included. Diffusion tensor imaging-derived fractional anisotropy (FA) and neonatal neurobehavioral assessment were separately used to characterize the brain WM microstructure and neurobehavioral development levels. Scatterplots with linear fitting and Pearson correlation were used to investigate the relationships of FA and neurobehavioral scores (active tone and behavior scores) with postnatal age separately for preterm and term neonates. Here, the optical radiation (OR), auditory radiation, corticospinal tract (CST), posterior thalamic radiation (PTR), and thalamus-primary somatosensory cortex were selected as the regions of interest (ROIs).</div></div><div><h3>Results</h3><div>The preterm FAs in the ROIs were lower than term neonates (all Bonferroni-corrected <em>P</em> &lt; 0.001). Preterm CST FA showed a significantly higher correlation with postnatal age (<em>P</em> = 0.042) than term (<em>r</em> = 0.29 vs 0.08), whereas significantly higher correlations were found in term OR (<em>P</em> = 0.018) and PTR (<em>P</em> = 0.002). Similarly, relatively high and low correlations between active tone (<em>r</em> = 0.48 vs 0.35; <em>P</em> = 0.049 for interactions with a postnatal age ≥14 days and preterm/term group status) and behavioral scores (<em>r</em> = 0.36 vs 0.52; <em>P</em> = 0.030 for interactions of postnatal age and preterm/term group status) were observed in preterm infants.</div></div><div><h3>Conclusions</h3><div>Although delayed, preterm neonates exhibit a “catch-up” pattern in motor development in the newborn stage.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 81-88"},"PeriodicalIF":3.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066983","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}
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