Pediatric neurology最新文献

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How Close Are We? Neuropsychologic Assessment in New-Onset Pediatric Epilepsy 我们离成功还有多远?新发儿童癫痫的神经心理评估
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-23 DOI: 10.1016/j.pediatrneurol.2025.06.018
Nancy Nussbaum PhD, Karla Robles Lopez MD, PhD, Dave F. Clarke MD
{"title":"How Close Are We? Neuropsychologic Assessment in New-Onset Pediatric Epilepsy","authors":"Nancy Nussbaum PhD,&nbsp;Karla Robles Lopez MD, PhD,&nbsp;Dave F. Clarke MD","doi":"10.1016/j.pediatrneurol.2025.06.018","DOIUrl":"10.1016/j.pediatrneurol.2025.06.018","url":null,"abstract":"<div><h3>Background</h3><div>Approximately half of all children and adults newly diagnosed with epilepsy also show behavioral and/or cognitive difficulties upon assessment. Although neuropsychological assessment is recommended as a routine part of care at epilepsy onset, access to assessment is often restricted by many factors. To better define the extent of the problem, we surveyed neurologists and neuropsychologists in the United States and Canada to clarify how frequently youth with new-onset epilepsy are referred for and undergo neuropsychological assessment.</div></div><div><h3>Methods</h3><div>In 2022, online surveys for neurologists and neuropsychologists were disseminated via the American Epilepsy Society newsletter, professional listservs, and colleague recruitment.</div></div><div><h3>Results</h3><div>Of the 39 neurologists and 47 neuropsychologists who responded, most were in academic medical centers (neurologists = 90%, neuropsychologists = 77%) and affiliated with comprehensive epilepsy centers (neurologists = 95%, neuropsychologists = 85%). Most practice settings had less than three pediatric epilepsy neuropsychologists as reported by neurologists (77%) and neuropsychologists (64%). Neurologists and neuropsychologists largely agreed that neuropsychologic assessment of patients with new-onset pediatric epilepsy occurred in 0% to 25% of cases (neurologists = 67%, neuropsychologists = 70%). Most neurologists (69%) concurred that neuropsychological assessment contributes substantially to the care of nonsurgical epilepsy patients. However, a sizable percentage (31%) indicated that they only “sometimes” knew when to refer.</div></div><div><h3>Conclusions</h3><div>Children with new-onset epilepsy do not routinely undergo neuropsychological assessment despite it being a recommended standard of care. Some of the barriers were limited availability of neuropsychologists, insurance denials, and difficulty accessing care.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 106-109"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655456","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
Letter to the Editor: Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy 致编辑的信:颅超声在缺氧缺血性脑病脑损伤研究中的应用
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-21 DOI: 10.1016/j.pediatrneurol.2025.06.013
Saad Khan MBBS, Hiba Thasleem MD, Junaid Imran MBBS, Maryam Adnan MBBS, Fatima Sohail MBBS
{"title":"Letter to the Editor: Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy","authors":"Saad Khan MBBS,&nbsp;Hiba Thasleem MD,&nbsp;Junaid Imran MBBS,&nbsp;Maryam Adnan MBBS,&nbsp;Fatima Sohail MBBS","doi":"10.1016/j.pediatrneurol.2025.06.013","DOIUrl":"10.1016/j.pediatrneurol.2025.06.013","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Page 128"},"PeriodicalIF":3.2,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655473","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
Current and Future Treatment Strategies in Developmental and/or Epileptic Encephalopathy With Spike-Wave Activation in Sleep (DEE-SWAS): A Time for Precision Medicine? 发展性和/或癫痫性脑病伴睡眠峰波激活(DEE-SWAS)的当前和未来治疗策略:精准医学的时代?
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-21 DOI: 10.1016/j.pediatrneurol.2025.06.017
Victor Manuel Perez-Navarro MD , M. Scott Perry MD , Ana Laura Fernandez-Perrone MD , Celia Romero-del-Rincon MD , Victor Soto-Insuga MD, PhD , Ariadna Sanchez-Suarez MD, PhD , Elena Gonzalez-Alguacil MD , Cristina Barcia-Aguilar MD, PhD , Juan Jose Garcia-Peñas MD , Angel Aledo-Serrano MD, PhD
{"title":"Current and Future Treatment Strategies in Developmental and/or Epileptic Encephalopathy With Spike-Wave Activation in Sleep (DEE-SWAS): A Time for Precision Medicine?","authors":"Victor Manuel Perez-Navarro MD ,&nbsp;M. Scott Perry MD ,&nbsp;Ana Laura Fernandez-Perrone MD ,&nbsp;Celia Romero-del-Rincon MD ,&nbsp;Victor Soto-Insuga MD, PhD ,&nbsp;Ariadna Sanchez-Suarez MD, PhD ,&nbsp;Elena Gonzalez-Alguacil MD ,&nbsp;Cristina Barcia-Aguilar MD, PhD ,&nbsp;Juan Jose Garcia-Peñas MD ,&nbsp;Angel Aledo-Serrano MD, PhD","doi":"10.1016/j.pediatrneurol.2025.06.017","DOIUrl":"10.1016/j.pediatrneurol.2025.06.017","url":null,"abstract":"<div><div>Developmental and/or epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS) is a childhood-onset epilepsy syndrome characterized by cognitive regression or stagnation and marked activation of epileptiform activity during sleep. DEE-SWAS refers to cases with pre-existing neurodevelopmental disorders, whereas EE-SWAS is applied when development was initially normal before the onset of epileptic encephalopathy. This syndrome comprises approximately 0.2%-1.3% of all pediatric epilepsies. D/EE-SWAS etiology includes structural anomalies and autoimmune and genetic causes, although etiology frequently remains unknown. The active epileptic process in a developing brain results in impairment of cognitive functions and behavior. For this reason, early recognition of the electroclinical syndrome and treatment initiation is extremely relevant for the long-term cognitive outcome. Typically, the available therapeutic strategies consisted of low-quality evidence and limited effectiveness, such as combinations of antiseizure medications and steroids, which were based on syndromic diagnoses rather than etiology-driven hypotheses. Over the last years, treatment has been shifting toward precision medicine approaches, with an increasing proportion of genetic diagnosis, new evidence supporting the efficacy of the surgical option in selected patients, and specific targeted treatments, such as <span>l</span>-serine in GRIN-related disorders. Additionally, this coexists with ongoing clinical trials with syndrome-specific design for D/EE-SWAS. This narrative review aims to summarize the evidence on treatments for D/EE-SWAS, provide updates on drugs currently in development, and explore precision medicine approaches for this syndrome, seeking to combine both syndrome- and etiology-driven treatment strategies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 87-97"},"PeriodicalIF":3.2,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144631599","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
Clinical Profile, Intensive Care Needs, and Short-Term Outcome of Acute Necrotizing Encephalopathy of Childhood: A Retrospective Study From a Tertiary Care Hospital in North India 儿童急性坏死性脑病的临床概况、重症监护需求和短期预后:印度北部一家三级医院的回顾性研究
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-20 DOI: 10.1016/j.pediatrneurol.2025.06.016
Suresh Kumar Angurana DM , Deepankar Bansal DM , Karthi Nallasamy DM, Jayashree Muralidharan MD, Arushi Gahlot Saini DM, Renu Suthar DM, Jitendra Kumar Sahu DM, Naveen Sankhyan DM, Sameer Vyas DM, Arun Bansal MD, MRCPCH
{"title":"Clinical Profile, Intensive Care Needs, and Short-Term Outcome of Acute Necrotizing Encephalopathy of Childhood: A Retrospective Study From a Tertiary Care Hospital in North India","authors":"Suresh Kumar Angurana DM ,&nbsp;Deepankar Bansal DM ,&nbsp;Karthi Nallasamy DM,&nbsp;Jayashree Muralidharan MD,&nbsp;Arushi Gahlot Saini DM,&nbsp;Renu Suthar DM,&nbsp;Jitendra Kumar Sahu DM,&nbsp;Naveen Sankhyan DM,&nbsp;Sameer Vyas DM,&nbsp;Arun Bansal MD, MRCPCH","doi":"10.1016/j.pediatrneurol.2025.06.016","DOIUrl":"10.1016/j.pediatrneurol.2025.06.016","url":null,"abstract":"<div><h3>Background</h3><div>Acute necrotizing encephalopathy of childhood (ANEC) is a rare parainfectious clinicoradiological syndrome characterized by rapid neurological deterioration and poor outcomes.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study over 11 years (2014-2024) in the pediatric emergency and intensive care units of a quaternary hospital in North India. Children aged one month to 12 years diagnosed with ANEC were enrolled. Data on demographics, clinical features, laboratory and neuroimaging findings, etiology, management, and outcomes were collected. The ANEC Severity Score (ANE-SS) was calculated.</div></div><div><h3>Results</h3><div>Thirty-two children were included (median age, 4 [interquartile range, 1-7] years; 53.1% male). Common clinical features included altered state of consciousness (96.9%), fever (93.7%), seizures (78.1%), and signs of raised intracranial pressure (46.9%). Organ dysfunctions included encephalopathy (100%), transaminitis (56.2%), and thrombocytopenia (46.9%). Neuroimaging revealed bilateral thalamic involvement in all cases. Etiology was identified in 37.5%, most commonly dengue virus (21.9%), followed by H1N1 (6.2%). Intensive care interventions included mechanical ventilation (56.2%) and vasoactive drugs (31.2%). Immunomodulatory therapy included methylprednisolone (78.1%), intravenous immunoglobulin (25%), and tocilizumab (15.6%). Survival rate was 78.1%. At discharge, the median Pediatric Cerebral Performance Category score was 3 (3-4), indicating moderate to severe disability. High-risk ANE-SS was significantly associated with mortality (<em>P</em> = 0.007).</div></div><div><h3>Conclusions</h3><div>ANEC remains a severe pediatric encephalopathy with high neuromorbidity. Dengue virus was the most common trigger in this cohort. Early identification and intensive care support, along with immunomodulation, are key. ANE-SS may serve as a valuable prognostic tool.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 66-71"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549779","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
Opsoclonus in Children: Diagnosis, Etiology, and Ophthalmologic Assessment of Patients at a Tertiary Children's Hospital 儿童眼盲:某三级儿童医院患者的诊断、病因和眼科评估
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-20 DOI: 10.1016/j.pediatrneurol.2025.06.015
Melissa Yuan MD , Jacqueline Jeon-Chapman BS , Tais Estrela MD, PhD , Ryan Gise MD
{"title":"Opsoclonus in Children: Diagnosis, Etiology, and Ophthalmologic Assessment of Patients at a Tertiary Children's Hospital","authors":"Melissa Yuan MD ,&nbsp;Jacqueline Jeon-Chapman BS ,&nbsp;Tais Estrela MD, PhD ,&nbsp;Ryan Gise MD","doi":"10.1016/j.pediatrneurol.2025.06.015","DOIUrl":"10.1016/j.pediatrneurol.2025.06.015","url":null,"abstract":"<div><h3>Background</h3><div>Opsoclonus is often associated with serious neurological and paraneoplastic pathology. Pediatric ophthalmologists play an important role in its diagnosis.</div></div><div><h3>Methods</h3><div>This study was a retrospective chart review of patients seen for suspicion of opsoclonus.</div></div><div><h3>Results</h3><div>A total of 259 patients were identified for whom opsoclonus was suspected, of which 83 (32%) were found to be true opsoclonus. The ophthalmology consultation changed the course of evaluation in 44 of the 117 patients who received ophthalmologic evaluation (38%). Sixteen (9%) were found to have primary ophthalmic diagnoses. Of the 83 children with opsoclonus, 36 (43%) had paraneoplastic opsoclonus-myoclonus-ataxia syndrome (OMAS), 32 (39%) had nonparaneoplastic OMAS, one (1.2%) had optic pathway glioma, 5 (6.0%) had other neurological diseases, 2 (2.4%) had hydrocephalus, 6 (7.2%) had benign neonatal opsoclonus, and one (1.2%) had opsoclonus of unknown etiology. Most patients (78 patients; 94%) received brain magnetic resonance imaging (MRI), followed by MRI of the chest/abdomen/pelvis and urine catecholamines in 57 patients each (69%).</div></div><div><h3>Conclusions</h3><div>Extensive evaluation is usually performed to rule out underlying neoplastic pathology and includes MRI of the brain, neck, chest, and abdomen and urine catecholamine studies. Pediatric ophthalmologists can help to make critical ophthalmic diagnoses in a minority of cases. If involved early in the diagnostic course, this may spare children unnecessary testing.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 74-79"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571380","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
Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes? 三胞胎的对称性丘脑病变:我们能从不同的表型中学到什么?
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-18 DOI: 10.1016/j.pediatrneurol.2025.06.012
Cristina Mastropietro MD , Carole Gengler MD , Camille Kumps MD , Diana Ballhausen MD , Sébastien Joye MD , Juliane Schneider MD , Anita C. Truttmann MD
{"title":"Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes?","authors":"Cristina Mastropietro MD ,&nbsp;Carole Gengler MD ,&nbsp;Camille Kumps MD ,&nbsp;Diana Ballhausen MD ,&nbsp;Sébastien Joye MD ,&nbsp;Juliane Schneider MD ,&nbsp;Anita C. Truttmann MD","doi":"10.1016/j.pediatrneurol.2025.06.012","DOIUrl":"10.1016/j.pediatrneurol.2025.06.012","url":null,"abstract":"<div><h3>Background</h3><div>Symmetrical thalamic lesions (STL) is a rare condition that affects term newborns who have suffered an antenatal hypoxic insult and present at birth with specific clinical features: feeding and swallowing difficulties, facial hypomimia, apnea, and frequently hypertonia. Recently STL have also been described in preterm infants.</div></div><div><h3>Case details</h3><div>We describe the first case series of STL in preterm triplets with a variable spectrum of clinical outcomes, following a clearly identified perinatal anoxic insult. Spontaneous male triplets, two monochorionic-diamniotic (T1 and T2) and one dichorionic-diamniotic (T3), were born at 31 1/7 gestational weeks by emergency Caesarean section due to maternal anaphylactic shock and presented with severe neonatal asphyxia.</div></div><div><h3>Conclusions</h3><div>The clinical presentation, neuroimaging studies, and autoptic findings of the two monochorionic twins are compatible with STL with a more severe neurological presentation of T1. The dichorionic triplet was completely unaffected. Genetic and metabolic studies excluded alternative etiologies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 80-84"},"PeriodicalIF":3.2,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571381","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
Impact of CLN3 Disease on Child Quality of Life and Family Function CLN3疾病对儿童生活质量和家庭功能的影响
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-16 DOI: 10.1016/j.pediatrneurol.2025.06.008
Jennifer Vermilion MD , Erika F. Augustine MD, MS , Jonathan W. Mink MD, PhD , Michael P. McDermott PhD , Amy Vierhile DNP , Marianna Pereira-Freitas BA , Heather R. Adams PhD
{"title":"Impact of CLN3 Disease on Child Quality of Life and Family Function","authors":"Jennifer Vermilion MD ,&nbsp;Erika F. Augustine MD, MS ,&nbsp;Jonathan W. Mink MD, PhD ,&nbsp;Michael P. McDermott PhD ,&nbsp;Amy Vierhile DNP ,&nbsp;Marianna Pereira-Freitas BA ,&nbsp;Heather R. Adams PhD","doi":"10.1016/j.pediatrneurol.2025.06.008","DOIUrl":"10.1016/j.pediatrneurol.2025.06.008","url":null,"abstract":"<div><h3>Background</h3><div>CLN3 disease is a rare inherited neurodegenerative disease that typically starts in childhood. Given the progressive nature of the disease, it likely affects the health-related quality of life (HRQOL) of both the child and the family unit. In this study, we evaluated HRQOL and family function in individuals with CLN3 disease and their families.</div></div><div><h3>Methods</h3><div>Data were obtained from longitudinal observational studies on CLN3 disease at the University of Rochester Batten Center. Assessments were completed at variable intervals from 2006 to 2024. Parents completed the PedsQL, which assesses child HRQOL, and the PedsQL FIM, which assess family impact. In a subset of participants, we concurrently administered the Unified Batten Disease Rating Scale, a global assessment of CLN3 disease.</div></div><div><h3>Results</h3><div>Data from 71 participants were included in this study, of which 21 participants had concurrent Unified Batten Disease Rating Scale data. Mean (SD) PedsQL Total (48.2 (19.7)) and PedsQL FIM Total (51.2 [16.5]) scores were low. Worse child HRQOL was associated with physical impairment from more severe CLN3 disease (r<sub>s</sub>= −0.77, <em>P</em> &lt; 0.0001) and worse functional capability (r<sub>s</sub> = −0.75, <em>P</em> = 0.0001). In contrast, family impact severity was not associated with symptom severities of CLN3 disease. On longitudinal analysis, child HRQOL (PedsQL Total Score) worsened over time (<em>P</em> &lt; 0.0001), but family impact (PedsQL FIM Total Score) did not significantly change over time (<em>P</em> = 0.38).</div></div><div><h3>Conclusions</h3><div>Children with CLN3 disease and their families are at high risk of impaired HRQOL and function. This information may provide important information for clinical care and trial design in CLN3 disease.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 17-25"},"PeriodicalIF":3.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144524010","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
Master of Disguise: A Case of Hemiplegic Migraine 伪装大师:偏瘫性偏头痛一例
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-16 DOI: 10.1016/j.pediatrneurol.2025.06.011
Monica Beshara MD, Amanda Bruhm MD, Nwanneka Okolo MD
{"title":"Master of Disguise: A Case of Hemiplegic Migraine","authors":"Monica Beshara MD,&nbsp;Amanda Bruhm MD,&nbsp;Nwanneka Okolo MD","doi":"10.1016/j.pediatrneurol.2025.06.011","DOIUrl":"10.1016/j.pediatrneurol.2025.06.011","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 85-86"},"PeriodicalIF":3.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597302","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
Postural Orthostatic Tachycardia Syndrome and Vaccination: Navigating Causality, Diagnostic Hurdles, and Bias 体位性心动过速综合征和疫苗接种:导航因果关系,诊断障碍和偏差
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-13 DOI: 10.1016/j.pediatrneurol.2025.06.009
Tiff-Annie Kenny PhD
{"title":"Postural Orthostatic Tachycardia Syndrome and Vaccination: Navigating Causality, Diagnostic Hurdles, and Bias","authors":"Tiff-Annie Kenny PhD","doi":"10.1016/j.pediatrneurol.2025.06.009","DOIUrl":"10.1016/j.pediatrneurol.2025.06.009","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 72-73"},"PeriodicalIF":3.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564085","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
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency BPTF单倍不全患者的周期性呕吐综合征
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-13 DOI: 10.1016/j.pediatrneurol.2025.06.010
Alessandro Ferretti MD , Margherita Furlan MD , Kevin E. Glinton MD, PhD , Christina D. Fenger MSc, PhD , Felix Boschann MD , Shimriet Zeidler MD, PhD , Corinna Stoltenburg MD , Tahsin Stefan Barakat MD, PhD , Julian A. Martinez-Agosto MD, PhD , Orrin Devinsky MD , Francesca Furia MD, PhD , Guido Rubboli MD , Anteo Di Napoli MD, MSc , Giulia Bellone MD , Silvia Furio MD , Marisa Piccirillo MD , Maurizio Mennini MD, PhD , Giovanni Di Nardo MD, PhD , Pasquale Parisi MD, PhD , Rikke S. Møller MSc, PhD , Elena Gardella MD, PhD
{"title":"Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency","authors":"Alessandro Ferretti MD ,&nbsp;Margherita Furlan MD ,&nbsp;Kevin E. Glinton MD, PhD ,&nbsp;Christina D. Fenger MSc, PhD ,&nbsp;Felix Boschann MD ,&nbsp;Shimriet Zeidler MD, PhD ,&nbsp;Corinna Stoltenburg MD ,&nbsp;Tahsin Stefan Barakat MD, PhD ,&nbsp;Julian A. Martinez-Agosto MD, PhD ,&nbsp;Orrin Devinsky MD ,&nbsp;Francesca Furia MD, PhD ,&nbsp;Guido Rubboli MD ,&nbsp;Anteo Di Napoli MD, MSc ,&nbsp;Giulia Bellone MD ,&nbsp;Silvia Furio MD ,&nbsp;Marisa Piccirillo MD ,&nbsp;Maurizio Mennini MD, PhD ,&nbsp;Giovanni Di Nardo MD, PhD ,&nbsp;Pasquale Parisi MD, PhD ,&nbsp;Rikke S. Møller MSc, PhD ,&nbsp;Elena Gardella MD, PhD","doi":"10.1016/j.pediatrneurol.2025.06.010","DOIUrl":"10.1016/j.pediatrneurol.2025.06.010","url":null,"abstract":"<div><h3>Background</h3><div>Haploinsufficiency of the bromodomain PHD finger transcription factor (<em>BPTF</em>) gene, essential in chromatin remodeling, leads to a neurodevelopmental disorder characterized by dysmorphic facies, distal limb anomalies, neurological disturbances, epilepsy, and gastrointestinal symptoms.</div></div><div><h3>Methods</h3><div>Families with <em>BPTF</em>-related neurodevelopmental disorders, with or without gastrointestinal symptoms, were recruited through an international collaboration. Data were collected via questionnaires on demographics, clinical features, genetics, and comorbidities, focusing on cyclical vomiting syndrome (CVS). CVS was diagnosed using criteria from the International Classification of Headache Disorders, 3rd edition (ICHD-3). Genetic variants were analyzed for pathogenicity, and effectiveness of therapies was assessed.</div></div><div><h3>Results</h3><div>We enrolled 15 individuals with likely pathogenic/pathogenic <em>BPTF</em> variants (median age: 8.8 years). Three individuals (20%) were diagnosed with CVS, and an additional four individuals (26.7%) met at least three of the ICHD-3 criteria for CVS. Among these seven individuals, the median age at onset of recurrent vomiting episodes was 3 years. In all seven individuals, recurrent vomiting episodes, typically lasting under an hour, were triggered by poor sleep (50%) and fever (66.7%). Acute therapy (ondansetron or domperidone) was administered in 42.8% of cases, and prophylactic therapy was provided in 57.1% of cases with cyproheptadine, levetiracetam combined with lamotrigine, and domperidone; all therapies were associated with clinical benefit. Episodes disrupted families’ daily lives, causing emotional stress (85.7%) and routine disruptions (85.7%).</div></div><div><h3>Conclusions</h3><div>This study broadens the syndromic phenotype associated with BPTF haploinsufficiency, highlighting CVS as a core feature. The findings raise clinician awareness, guide management, and enhance understanding of this rare condition.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 58-65"},"PeriodicalIF":3.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549778","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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