Pediatric neurology最新文献

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Rhabdomyolysis in Multisystem Inflammatory Syndrome and After Coronavirus Disease 2019 Vaccination 多系统炎症综合征和冠状病毒2019疫苗接种后横纹肌溶解
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-20 DOI: 10.1016/j.pediatrneurol.2025.05.020
Ting-Chih Lin MD
{"title":"Rhabdomyolysis in Multisystem Inflammatory Syndrome and After Coronavirus Disease 2019 Vaccination","authors":"Ting-Chih Lin MD","doi":"10.1016/j.pediatrneurol.2025.05.020","DOIUrl":"10.1016/j.pediatrneurol.2025.05.020","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 140-141"},"PeriodicalIF":3.2,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144261488","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
Ket-Mid Study: Evidence for Early Combined Polytherapy in Prolonged Status Epilepticus (Stage 1 Plus) in Children Ket-Mid研究:早期联合多种疗法治疗儿童延长癫痫持续状态(1期以上)的证据
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-16 DOI: 10.1016/j.pediatrneurol.2025.05.018
Giuseppe Magro MD
{"title":"Ket-Mid Study: Evidence for Early Combined Polytherapy in Prolonged Status Epilepticus (Stage 1 Plus) in Children","authors":"Giuseppe Magro MD","doi":"10.1016/j.pediatrneurol.2025.05.018","DOIUrl":"10.1016/j.pediatrneurol.2025.05.018","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Page 81"},"PeriodicalIF":3.2,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144204466","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
Outcomes of Ketogenic Diet in Pediatric Intractable Epilepsy and Neurometabolic Disorders: Insights From the First Iranian Registry 生酮饮食治疗小儿顽固性癫痫和神经代谢疾病的结果:来自伊朗第一次登记的见解
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-16 DOI: 10.1016/j.pediatrneurol.2025.05.013
Parvaneh Karimzadeh MD , Maryam Kachuei MD , Shayan Eghdami MD, MPH , Maryam Beheshti Beglar MSc , Maryam Azizi MD
{"title":"Outcomes of Ketogenic Diet in Pediatric Intractable Epilepsy and Neurometabolic Disorders: Insights From the First Iranian Registry","authors":"Parvaneh Karimzadeh MD ,&nbsp;Maryam Kachuei MD ,&nbsp;Shayan Eghdami MD, MPH ,&nbsp;Maryam Beheshti Beglar MSc ,&nbsp;Maryam Azizi MD","doi":"10.1016/j.pediatrneurol.2025.05.013","DOIUrl":"10.1016/j.pediatrneurol.2025.05.013","url":null,"abstract":"<div><h3>Background</h3><div>The ketogenic diet (KD) is characterized by its high-fat, moderate-protein, and low-carbohydrate composition, promoting elevated ketone body levels. This study aimed to evaluate the efficacy of KD in pediatric patients with intractable epilepsy and neurometabolic disorders using data from the first Iranian registry system.</div></div><div><h3>Methods</h3><div>A cross-sectional study was conducted at the pediatric neurology clinic of Mofid Hospital, Iran, from 2019 to 2022. Sixty-five pediatric patients (38 boys, 27 girls; mean age 7.8 ± 3.09 years) with refractory epilepsy, autism spectrum disorder, or neurometabolic disorders were included. Patients received different KD types (classic, modified Atkins diet, low glycemic index treatment). Data on seizure frequency, developmental outcomes, and complications were collected and analyzed using SPSS v24.</div></div><div><h3>Results</h3><div>At one and three months postinitiation of KD, a significant reduction in seizure frequency was observed in &gt;50% of patients, with some achieving seizure freedom (no episode of seizure in the six months period of the study). Developmental outcomes improved significantly, with reductions in movement delay (from 62% to 37%), language delay (from 84% to 43.3%), and mental delay (from 89% to 45%) (<em>P</em> &lt; 0.05). The most common reasons for KD discontinuation were gastrointestinal intolerance (lethargy, nausea, vomiting) and lack of family cooperation.</div></div><div><h3>Conclusions</h3><div>The ketogenic diet is an effective and safe therapeutic option for pediatric patients with refractory epilepsy and neurometabolic disorders. The findings underscore the value of patient registry systems for optimizing KD management and reducing adverse effects. Future studies with larger cohorts and extended follow-ups are necessary to confirm these results and refine clinical recommendations.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 115-122"},"PeriodicalIF":3.2,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239579","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
SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft syngap1相关的智力残疾:有意义的临床结果和疾病概念模型草案的发展
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-16 DOI: 10.1016/j.pediatrneurol.2025.05.017
Katharine A. Cunnane MD , Andrea Cabassa Miskimen MD , Rachel A. Arnesen MD , Zachary M. Grinspan MD, MS
{"title":"SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft","authors":"Katharine A. Cunnane MD ,&nbsp;Andrea Cabassa Miskimen MD ,&nbsp;Rachel A. Arnesen MD ,&nbsp;Zachary M. Grinspan MD, MS","doi":"10.1016/j.pediatrneurol.2025.05.017","DOIUrl":"10.1016/j.pediatrneurol.2025.05.017","url":null,"abstract":"<div><h3>Background</h3><div>SYNGAP1 is a heterogeneous genetic disorder associated with intellectual disability, infantile-onset seizures, and other neurological and somatic symptoms. Clinical trial design for SYNGAP1 would benefit from a disease concept model—i.e., enumerating and ranking symptoms based on their impact on affected individuals and their caregivers.</div></div><div><h3>Methods</h3><div>We developed a disease concept model for SYNGAP1 via five exercises: a scoping review of clinical features, semistructured interviews with caregivers, a survey of caregivers, a survey of clinical experts, and a review of charts of individuals with SYNGAP1 at one center (Weill Cornell Medicine). We provide a narrative summary of the key findings.</div></div><div><h3>Results</h3><div>We reviewed 19 articles, conducted 16 interviews with caregivers, received survey responses from 90 caregivers and 15 clinical experts, and reviewed seven charts. Integrating findings from these exercises indicates that both caregivers and providers consider seizures/epilepsy, intellectual disability, and emotional regulation to be the most important therapeutic targets. Caregivers also place a high priority on the ability of individuals with SYNGAP1 to communicate. Chart review revealed that some symptoms discussed in the caregiver interviews (i.e., lack of danger awareness, heat/cold intolerance, lack of satiety) are not found in clinicians’ notes.</div></div><div><h3>Conclusions</h3><div>Seizures, intellectual disability, communication, and emotional regulation are the four most meaningful clinical outcomes to target for investigating clinical interventions for SYNGAP1<em>,</em> according to caregivers and providers.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 105-114"},"PeriodicalIF":3.2,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239578","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 Essential Role of Medicaid in Duchenne Muscular Dystrophy Care: A Call to Protect Vulnerable Populations 医疗补助在杜氏肌萎缩症治疗中的重要作用:呼吁保护弱势群体
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-15 DOI: 10.1016/j.pediatrneurol.2025.05.016
Stephen Chrzanowski MD, PhD, Eleonora Silvana D'Ambrosio MD
{"title":"The Essential Role of Medicaid in Duchenne Muscular Dystrophy Care: A Call to Protect Vulnerable Populations","authors":"Stephen Chrzanowski MD, PhD,&nbsp;Eleonora Silvana D'Ambrosio MD","doi":"10.1016/j.pediatrneurol.2025.05.016","DOIUrl":"10.1016/j.pediatrneurol.2025.05.016","url":null,"abstract":"<div><h3>Background</h3><div>Duchenne muscular dystrophy (DMD) is the most common fatal pediatric neuromuscular disorder, resulting in premature morbidity and mortality. Multidisciplinary care and new therapies have prolonged quantity and quality of life, for which many families remain dependent on Medicaid for access to standards of care. Proposed Medicaid funding cuts would disproportionately harm children with complex medical conditions, including DMD, jeopardizing their access to essential services and specialized care. Children with DMD rely on comprehensive multidisciplinary care, including neurology, cardiology, pulmonology, endocrinology, psychiatry, and rehabilitation specialists. Medicaid enables access to life-extending therapies, including (but not limited to) cardiac monitoring, ventilatory support, multidisciplinary steroid complications management, and mobility and accessibility devices to promote independence and dignity. Even families with private insurance often rely on Medicaid to bridge coverage gaps. Cutting Medicaid would force untenable decisions: families may have to forgo critical medications, critical heart scans, or essential mobility equipment. These choices would have devastating real-world consequences, resulting in loss of function, accelerated disease progression, and earlier deaths.</div></div><div><h3>Methods</h3><div>Not applicable.</div></div><div><h3>Results</h3><div>Not applicable.</div></div><div><h3>Conclusion</h3><div>As neuromuscular specialists at the UMass Duchenne Program, we see firsthand that Medicaid is not a luxury; it is the foundation that gives families hope for a better future. Children with DMD, as a protected and vulnerable population, cannot advocate for themselves. We must be their voice. Medicaid cuts are not merely a fiscal decision; they are a moral decision with life-altering consequences. We urge policymakers to protect Medicaid and safeguard the future of children living with DMD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 91-92"},"PeriodicalIF":3.2,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212853","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
Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings 产前诊断为Cri du Chat综合征的病例系列及其相关磁共振成像结果
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-15 DOI: 10.1016/j.pediatrneurol.2025.05.014
Renee Wright MS, LCGC , Natalie Burrill MS, LCGC , Haley Crane MS, LCGC , Nahla Khalek MD, MPH, MSEd , Juliana Gebb MD , Ashley M. Bach MD, MPH , Matthew T. Whitehead MD , Deborah Zarnow MD , Edward Oliver MD, PhD , Sonika Agarwal M.B.B.S, MD , Julie S. Moldenhauer MD
{"title":"Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings","authors":"Renee Wright MS, LCGC ,&nbsp;Natalie Burrill MS, LCGC ,&nbsp;Haley Crane MS, LCGC ,&nbsp;Nahla Khalek MD, MPH, MSEd ,&nbsp;Juliana Gebb MD ,&nbsp;Ashley M. Bach MD, MPH ,&nbsp;Matthew T. Whitehead MD ,&nbsp;Deborah Zarnow MD ,&nbsp;Edward Oliver MD, PhD ,&nbsp;Sonika Agarwal M.B.B.S, MD ,&nbsp;Julie S. Moldenhauer MD","doi":"10.1016/j.pediatrneurol.2025.05.014","DOIUrl":"10.1016/j.pediatrneurol.2025.05.014","url":null,"abstract":"<div><h3>Background</h3><div>Although the postnatal presentation of cri du chat syndrome (CdCS) is well known, few cases have reported the fetal phenotype of this syndrome.</div></div><div><h3>Methods</h3><div>We aim to share novel magnetic resonance imaging (MRI) findings in prenatally diagnosed CdCS.</div></div><div><h3>Results</h3><div>Here we describe three cases of prenatally diagnosed CdCS, with pontine and cerebellar hypoplasia, identified by ultrasound and confirmed by fetal MRI.</div></div><div><h3>Conclusions</h3><div>These cases highlight an expansion of the CdCS phenotype and the importance of fetal MRI and prenatal genetic testing in assisting with prenatal diagnosis of CdCS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 93-97"},"PeriodicalIF":3.2,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144222444","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 Impact of Puberty on Children With GLUT1 Deficiency Syndrome 青春期对GLUT1缺乏症儿童的影响
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-15 DOI: 10.1016/j.pediatrneurol.2025.05.012
Eric H. Kossoff MD , Sandra Ojeda PhD , Glenna Steele MEd
{"title":"The Impact of Puberty on Children With GLUT1 Deficiency Syndrome","authors":"Eric H. Kossoff MD ,&nbsp;Sandra Ojeda PhD ,&nbsp;Glenna Steele MEd","doi":"10.1016/j.pediatrneurol.2025.05.012","DOIUrl":"10.1016/j.pediatrneurol.2025.05.012","url":null,"abstract":"<div><h3>Background</h3><div>GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant disorder caused by variants in the <em>SLC2A1</em> gene in which children have epilepsy and movement disorders. Similar to other children with neurological conditions, parents of patients are often concerned about the impact of puberty on clinical features.</div></div><div><h3>Methods</h3><div>A survey was made available on the internet in January 2025 to all members of the GLUT1DS community. Responses were anonymous and collected by the Glut1 Deficiency Foundation; parents or adolescents/adults could participate. Inclusion criteria included a GLUT1DS diagnosis and having undergone puberty.</div></div><div><h3>Results</h3><div>Ninety-eight surveys were completed. Seizures worsened during puberty in 38. Contrarily, 58% had worsening of movement abnormalities, with treatments including acetazolamide, clonazepam, gabapentin, and clobazam. Additional symptoms included migraines (35%) and mood swings (38%), with more of the former in girls (44% vs 18%, <em>P</em> = 0.01). In those who experience menses, 71% have a change in symptoms during this time and about half have changes in ketosis levels. Seventy-two were on ketogenic diet therapy during puberty. Of those who checked ketones, 42 of 49 (86%) had decreased levels during puberty; however, only 42% of these children had increased seizures. There was no difference between ketogenic diet therapies in terms of ketosis, compliance, seizures, or movements.</div></div><div><h3>Conclusions</h3><div>Puberty in GLUT1DS was most likely to worsen movement disorders, but about one third also had increased seizures and the onset of migraines and mood swings. For those on a ketogenic diet, although ketosis often decreases, this was not uniformly associated with more seizures.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 40-43"},"PeriodicalIF":3.2,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185737","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
Factors Influencing Long-Term Outcomes in Childhood Arterial Ischemic Stroke 影响儿童动脉缺血性卒中长期预后的因素
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-15 DOI: 10.1016/j.pediatrneurol.2025.05.015
Nicola D. Fearn MBChB , Maggie L. Yau MBChB , Jay Gajera MBBS , Paul Monagle MBBS, MD , Anneke Grobler PhD , Belinda Stojanovski RN , Vicki Anderson PhD , Anne Gordon PhD , Mardee Greenham PhD , Anna Cooper PhD , Mark T. Mackay MBBS, PhD
{"title":"Factors Influencing Long-Term Outcomes in Childhood Arterial Ischemic Stroke","authors":"Nicola D. Fearn MBChB ,&nbsp;Maggie L. Yau MBChB ,&nbsp;Jay Gajera MBBS ,&nbsp;Paul Monagle MBBS, MD ,&nbsp;Anneke Grobler PhD ,&nbsp;Belinda Stojanovski RN ,&nbsp;Vicki Anderson PhD ,&nbsp;Anne Gordon PhD ,&nbsp;Mardee Greenham PhD ,&nbsp;Anna Cooper PhD ,&nbsp;Mark T. Mackay MBBS, PhD","doi":"10.1016/j.pediatrneurol.2025.05.015","DOIUrl":"10.1016/j.pediatrneurol.2025.05.015","url":null,"abstract":"<div><h3>Background</h3><div>Childhood arterial ischemic stroke (AIS) is associated with substantial long-term morbidity. This study aims to describe factors associated with recurrence, mortality, and neurological disability.</div></div><div><h3>Methods</h3><div>Australian children with radiologically confirmed AIS were enrolled prospectively to the Royal Children's Hospital stroke registry from 2003 to 2017. Data collected included demographics, clinical and radiological variables, Pediatric National Institutes of Health Stroke Scale severity score, and the Childhood AIS Standardized Classification and Diagnostic Evaluation etiology. Neurological outcomes were categorized as good (normal) or poor (mild/moderate/severe) using the Pediatric Stroke Outcome Measure Severity Classification Scheme.</div></div><div><h3>Results</h3><div>A total of 172 children with AIS were identified; 11% died (2% stroke-related), 15% had recurrent strokes (5% transient ischemic attacks), and 8% developed epilepsy. Pediatric Stroke Outcome Measure follow-up data were available for 131 children at a median 8.9 years of follow-up (interquartile range, 6.0-11.9). Risk factors for recurrence were arteriopathy (hazard ratio [HR], 2.75; confidence interval [CI], 1.47-5.15, <em>P</em> = 0.002) and hemiparesis (HR, 1.34; CI, 1.07-1.69, <em>P</em> = 0.012); 43% of children had poor long-term outcomes, which were associated with altered conscious state (odds ratio [OR], 2.79; CI, 1.25-6.22, <em>P</em> = 0.012) and neurosurgical intervention (OR, 3.20; CI, 1.55-6.59, <em>P</em> = 0.002).</div></div><div><h3>Conclusions</h3><div>Long-term neurological deficits are common in children with AIS in the prereperfusion therapy era. The use of pediatric-specific stroke assessment measures and etiologic classification systems enables this study to be a comparator for future stroke studies, measuring the impact of reperfusion therapies on outcomes in childhood AIS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 123-130"},"PeriodicalIF":3.2,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144253713","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
Description of Patterns in Reduced-Lead Electroencephalography Performed for Suspected Electrographic Seizures in Pediatric Patients With Altered Mental Status Using Standardized Terminology 使用标准化术语描述精神状态改变的儿童患者疑似电图癫痫的低铅脑电图模式
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-13 DOI: 10.1016/j.pediatrneurol.2025.05.011
Hiroshi Yamaguchi MD, PhD, DVM , Azusa Maruyama MD , Masahiro Nishiyama MD, PhD , Takuya Ueda MD , Hiroto Hongo MD , Shizuka Oikawa MD, PhD , Shoichi Tokumoto MD, PhD , Kazumi Tomioka MD, PhD , Satoshi Matsui MD, PhD , Takuro Hayashi MD , Ryojiro Tanaka MD, PhD , Kandai Nozu MD, PhD , Hiroaki Nagase MD, PhD
{"title":"Description of Patterns in Reduced-Lead Electroencephalography Performed for Suspected Electrographic Seizures in Pediatric Patients With Altered Mental Status Using Standardized Terminology","authors":"Hiroshi Yamaguchi MD, PhD, DVM ,&nbsp;Azusa Maruyama MD ,&nbsp;Masahiro Nishiyama MD, PhD ,&nbsp;Takuya Ueda MD ,&nbsp;Hiroto Hongo MD ,&nbsp;Shizuka Oikawa MD, PhD ,&nbsp;Shoichi Tokumoto MD, PhD ,&nbsp;Kazumi Tomioka MD, PhD ,&nbsp;Satoshi Matsui MD, PhD ,&nbsp;Takuro Hayashi MD ,&nbsp;Ryojiro Tanaka MD, PhD ,&nbsp;Kandai Nozu MD, PhD ,&nbsp;Hiroaki Nagase MD, PhD","doi":"10.1016/j.pediatrneurol.2025.05.011","DOIUrl":"10.1016/j.pediatrneurol.2025.05.011","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to analyze and describe reduced-lead electroencephalographic (EEG) data for suspected electrographic seizure (ESz) in pediatric patients presenting with altered mental status (AMS) in the emergency department (ED) according to standardized EEG terminology. The secondary aim was to compare the characteristics of these EEG patterns across febrile seizure (FS), acute encephalopathy/encephalitis (AE/AES), and epilepsy.</div></div><div><h3>Methods</h3><div>Epileptologists retrospectively analyzed the medical records and findings of reduced-lead EEG performed for suspected ESz in pediatric patients with AMS in ED between March 1, 2019, and February 28, 2023. Fifty-one EEG results with few artifacts were extracted; these patterns were described according to the American Clinical Neurophysiology Society's Standardized Critical Care EEG Terminology 2021. The obtained clinical diagnoses were categorized into three groups: FS, AE/AES, and epilepsy, and the characteristics of EEG patterns were compared.</div></div><div><h3>Results</h3><div>Clinical seizure types were not significantly different between FS, AE/AES, and epilepsy. In terms of EEG, there was no difference in Main term 1 (localization) among the groups. With regard to Main term 2 (morphology), patients with FS and AE/AES had commonly rhythmic delta activity, whereas patients with epilepsy had significantly more spikes and waves. ESz was observed in 25 patients; their incidence was significantly higher in the epilepsy group.</div></div><div><h3>Conclusions</h3><div>This is the first study to describe patterns in reduced-lead EEG performed for suspected ESz in pediatric patients with AMS due to disorders commonly encountered in the ED by using standardized EEG terminology and to compare EEG patterns among these disorders.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 21-30"},"PeriodicalIF":3.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170741","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
Caregiving Burden and Quality of Life Among Parents of Individuals With Angelman Syndrome: Gender Differences and the Impact of Financial Well-Being 天使综合症患者父母的照顾负担和生活质量:性别差异和经济福利的影响
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-05-13 DOI: 10.1016/j.pediatrneurol.2025.05.005
Dariusz Walkowiak PhD , Jan Domaradzki PhD
{"title":"Caregiving Burden and Quality of Life Among Parents of Individuals With Angelman Syndrome: Gender Differences and the Impact of Financial Well-Being","authors":"Dariusz Walkowiak PhD ,&nbsp;Jan Domaradzki PhD","doi":"10.1016/j.pediatrneurol.2025.05.005","DOIUrl":"10.1016/j.pediatrneurol.2025.05.005","url":null,"abstract":"<div><h3>Background</h3><div>A person with Angelman syndrome (AS), a rare neurogenetic condition that significantly affects health and daily functioning, needs lifetime specialized care. Consequently, parents of individuals with AS experience decreased quality of life, high levels of parental stress and burden, and severe financial strain. This study analyses the experiences of Polish parents of persons with AS. Gender differences between mothers and fathers are also reported, and the association between financial well-being, caregiving burden, and quality of life is evaluated.</div></div><div><h3>Methods</h3><div>A self-administered, anonymous, computer-assisted online survey on parents’ caregiving experiences was conducted among 119 parents associated with the Association of Families with Angelman Syndrome and FAST Poland-Foundation for Angelman Syndrome Therapeutics between March and August 2024.</div></div><div><h3>Results</h3><div>Although both mothers and fathers of those with AS experience parental strain resulting from caregiving, decreased quality of life, and financial well-being, mothers experienced higher levels of caregiving burden (<em>P</em> = 0.004). It was also observed that the physical health of mothers and parents of children with delayed diagnoses was more affected by the caregiving. Financial well-being was the only factor significantly associated with both decreased quality of life in all domains and increased levels of caregiver burden.</div></div><div><h3>Conclusions</h3><div>To improve the quality of life of parents of those with AS, financial assistance, psychological counseling, emotional support, and respite care programs are needed. Simultaneously, although such interventions should include gender differences, they should focus on more burdened mothers. Financial assistance is the most required resource that may enhance parents’ life satisfaction and health-related quality of life.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages 31-39"},"PeriodicalIF":3.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144178451","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
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