journal
https://read.qxmd.com/read/39002355/vestibular-migraine-and-recurrent-vertigo-in-children-a-diagnostic-focus-from-a-tertiary-hospital-study
#1
JOURNAL ARTICLE
Qunying Zhang, Yi Du, Xingjian Liu, Zhengyan Xu, Yu Wang, Lili Ren, Ziming Wu
BACKGROUND: To improve diagnostic precision in pediatric vertigo, particularly in Vestibular Migraine of Childhood (VMC), probable VMC (pVMC), Recurrent Vertigo of Childhood (RVC), and unspecified categories, by delineating clinical characteristics and prevalence to refine diagnostics and treatments. METHODS: Retrospective analysis of 102 pediatric patients (five to 18 years; 46 females, 56 males) at the Dizziness Center of the Otolaryngology Department in a tertiary-level hospital from January 2019 to December 2023...
June 25, 2024: Pediatric Neurology
https://read.qxmd.com/read/38991380/transition-is-not-enough-how-child-neurologists-can-help-improve-the-care-for-adults-with-neurodevelopmental-disabilities
#2
JOURNAL ARTICLE
Jessica Solomon Sanders, Julia Frueh
No abstract text is available yet for this article.
June 17, 2024: Pediatric Neurology
https://read.qxmd.com/read/38981277/disproportionality-analysis-of-nusinersen-in-the-food-and-drug-administration-adverse-event-reporting-system-a-real-world-postmarketing-pharmacovigilance-assessment
#3
JOURNAL ARTICLE
Yanping Li, Ni Zhang, Tingting Jiang, Lanlan Gan, Hui Su, Yuanlin Wu, Xue Yang, Guiyuan Xiang, Rui Ni, Jing Xu, Chen Li, Yao Liu
BACKGROUND: Nusinersen is the first drug for precise targeted therapy of spinal muscular atrophy, a rare disease that occurs in one of 10,000 to 20,000 live births. Therefore, thorough and comprehensive reports on the safety of nusinersen in large, real-world populations are necessary. This study aimed to mine the adverse event (AE) signals related to nusinersen through the Food and Drug Administration Adverse Event Reporting System (FAERS) database. METHODS: We extracted reports of AEs with nusinersen as the primary suspect from FAERS between December 2016 and March 2023...
June 14, 2024: Pediatric Neurology
https://read.qxmd.com/read/38945037/efficacy-of-oral-trihexyphenidyl-plus-clonazepam-versus-trihexyphenidyl-for-the-treatment-of-dystonia-in-children-with-dystonic-cerebral-palsy-an-open-label-randomized-controlled-trial
#4
JOURNAL ARTICLE
Prateek Kumar Panda, Vetoni Moirangthem, Apurva Tomar, Osama Neyaz, Indar Kumar Sharawat
BACKGROUND: Trihexyphenidyl and clonazepam are commonly used to treat dystonia in children with cerebral palsy (CP). However, there is a notable gap in the literature when it comes to studies that combine these first-line agents for the management of dystonia. METHODS: This open-label, randomized controlled trial aimed to compare the efficacy of adding oral clonazepam to trihexyphenidyl (THP + CLZ) versus using trihexyphenidyl alone (THP) in reducing the severity of dystonia, as measured by the Barry-Albright Dystonia (BAD) score...
June 14, 2024: Pediatric Neurology
https://read.qxmd.com/read/38964204/congenital-myasthenic-syndromes-in-belgium-genetic-and-clinical-characterization-of-pediatric-and-adult-patients
#5
JOURNAL ARTICLE
Nathalie Smeets, Alexander Gheldof, Bart Dequeker, Margaux Poleur, Sofia Maldonado Slootjes, Vinciane Van Parijs, Nicolas Deconinck, Pauline Dontaine, Alicia Alonso-Jimenez, Jan De Bleecker, Willem De Ridder, Sarah Herdewyn, Stéphanie Paquay, Arnaud Vanlander, Liesbeth De Waele, Geertrui Peirens, Diane Beysen, Kristl G Claeys, Nicolas Dubuisson, Isabelle Hansen, Gauthier Remiche, Sara Seneca, Véronique Bissay, Luc Régal
BACKGROUND: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect. Prevalence is likely underestimated. This study reports on patients with CMS followed in Belgium in 2022. METHODS: Data were gathered retrospectively from the medical charts...
June 11, 2024: Pediatric Neurology
https://read.qxmd.com/read/38936258/epilepsy-as-a-novel-phenotype-of-bptf-related-disorders
#6
JOURNAL ARTICLE
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, Christina D Fenger, Felix Boschann, Louise Amlie-Wolf, Shimriet Zeidler, Raffaella Moretti, Corinna Stoltenburg, Daniel C Tarquinio, Francesca Furia, Pasquale Parisi, Guido Rubboli, Orrin Devinsky, Cyril Mignot, Karen W Gripp, Rikke S Møller, Yaping Yang, Pawel Stankiewicz, Elena Gardella
BACKGROUND: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL. METHODS: We enrolled individuals with BPTF-related seizures or interictal epileptiform discharges (IEDs) on electroencephalography (EEG)...
June 11, 2024: Pediatric Neurology
https://read.qxmd.com/read/38959649/a-clinical-neurological-approach-to-the-child-with-adenosine-deaminase-deficiency
#7
REVIEW
Paula Ivarola, Luciano Urdinez, Matias Oleastro, Danila Labonia, Mariana Roizen, Roberto Caraballo, Silvia Tenembaum
BACKGROUND: Severe combined immunodeficiency secondary to adenosine deaminase deficiency is rare. The deficiency of this enzyme results in the accumulation of substrates in the tissues, including the brain. Clinical signs of neurological involvement may include seizures, neurodevelopmental disorders, hypotonia, and sensorineural hearing loss. Hematopoietic stem cell transplantation corrects the failure of the immune system but not the neurological involvement. OBJECTIVES: To describe the spectrum of neurological complications identified in a series of children with severe combined immunodeficiency due to adenosine deaminase deficiency...
June 8, 2024: Pediatric Neurology
https://read.qxmd.com/read/38971074/memory-consolidation-and-sleep-in-children-with-epilepsy-a-systematic-review
#8
REVIEW
Sebastian Hoyer, Marie Dietz, Anna-Sophie Ambrosi-Schneider, Nadashree Krishnasamy, Claudia Buss, Yee Lee Shing, Angela M Kaindl
BACKGROUND: Sleep is essential in the process of memory consolidation. Children and adolescents with epilepsy hold a significantly higher risk for memory impairment. Understanding the relationship between sleep and memory impairment in adolescents with epilepsy will help us to develop effective support services for this patient population. The present study provides a summary of the current research on the influence of epilepsy-related altered sleep patterns on memory consolidation in children and adolescents with epilepsy...
June 7, 2024: Pediatric Neurology
https://read.qxmd.com/read/38925092/long-term-disease-course-of-pontocerebellar-hypoplasia-type-10
#9
JOURNAL ARTICLE
Serhat Guler, Ayca Dilruba Aslanger, Turkan Uygur Sahin, Alpay Alkan, Cengiz Yalcinkaya, Sema Saltik, Gözde Yesil
BACKGROUND: Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. METHODS: Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations...
June 6, 2024: Pediatric Neurology
https://read.qxmd.com/read/38917517/clinical-experience-with-lacosamide-as-an-adjunct-treatment-for-neonatal-seizures-a-retrospective-single-center-study
#10
JOURNAL ARTICLE
Nitish Chourasia, Jacob Dohmeier, JuleLayne Curry, Samantha Parkhurst, Basangoud Mudigoudar, Marianna Rivas-Coppola, James Wheless
BACKGROUND: Lacosamide (LCM) is a third-generation antiseizure medication (ASM) currently approved for the treatment of focal seizures in children aged greater than one month. There are limited data on its efficacy in the neonatal age group. We describe our experience with LCM as an adjunct ASM for the treatment of neonatal seizures. METHODS: A retrospective chart review over a five-year period (2018 to 2022) was conducted at Le Bonheur Children's Hospital to identify neonates with electroencephalography (EEG)-proven seizures who were treated with LCM...
June 5, 2024: Pediatric Neurology
https://read.qxmd.com/read/38914025/stroke-and-stroke-like-episodes-recurrent-manifestations-in-glut1-deficiency-syndrome
#11
JOURNAL ARTICLE
Sara Olivotto, Anna Freddi, Roberto Previtali, Alessia Mauri, Cristina Cereda, Ramona De Amicis, Simona Bertoli, Chiara Doneda, Pierangelo Veggiotti
BACKGROUND: Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits. METHODS: We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases...
June 4, 2024: Pediatric Neurology
https://read.qxmd.com/read/38924826/seizures-in-children-with-severe-acute-respiratory-syndrome-coronavirus-2-infection
#12
JOURNAL ARTICLE
Begoña de Miguel Lavisier, Miguel Ángel Molina Gutiérrez, Ruth Camila Púa Torrejón, María Ángeles García Herrero, María Dolores Rodríguez Mesa, Marta Furones García, Rosario López López, Marta Bueno Barriocanal, Paula García Sánchez, Jose Antonio Ruíz Domínguez, María de Ceano-Vivas Lacalle
BACKGROUND: Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others. MATERIAL AND METHODS: This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022...
June 3, 2024: Pediatric Neurology
https://read.qxmd.com/read/38908261/beyond-the-tailbone-a-family-s-journey-through-caudal-regression-syndrome-a-triple-sibship
#13
JOURNAL ARTICLE
Marya Hameed, Muhammad Fazal Hussain Qureshi
BACKGROUND: Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation. RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children's health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment...
June 3, 2024: Pediatric Neurology
https://read.qxmd.com/read/38905742/the-utility-of-genetic-testing-in-infantile-epileptic-spasms-syndrome-a-step-based-approach-in-the-next-generation-sequencing-era
#14
JOURNAL ARTICLE
Seda Kanmaz, Sanem Yılmaz, Cemile Büşra Olculu, Dilara Ece Toprak, Tuğçe Ince, Özlem Yılmaz, Yavuz Atas, Gursel Sen, Erdem Şimşek, Hepsen Mine Serin, Enise Avcı Durmuşalioğlu, Esra Işık, Tahir Atik, Gul Aktan, Ozgur Cogulu, Sarenur Gokben, Ferda Ozkınay, Hasan Tekgul
BACKGROUND: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era. METHODS: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing)...
May 31, 2024: Pediatric Neurology
https://read.qxmd.com/read/38901369/cerebral-palsy-phenotypes-in-genetic-epilepsies
#15
JOURNAL ARTICLE
Siddharth Srivastava, Hyun Yong Koh, Lacey Smith, Annapurna Poduri
BACKGROUND: Although there are established connections between genetic epilepsies and neurodevelopmental disorders like intellectual disability, the presence of cerebral palsy (CP) in genetic epilepsies is undercharacterized. We performed a retrospective chart review evaluating the motor phenotype of patients with genetic epilepsies. METHODS: Patients were ascertained through a research exome sequencing study to identify genetic causes of epilepsy. We analyzed data from the first 100 individuals with molecular diagnoses...
May 31, 2024: Pediatric Neurology
https://read.qxmd.com/read/38905743/sexual-health-education-and-quality-of-counseling-in-pediatric-onset-multiple-sclerosis
#16
JOURNAL ARTICLE
Kelly Burk, Dania Pagarkar, Mellad M Khoshnood, Saba Jafarpour, Nusrat Ahsan, Wendy G Mitchell, Jonathan D Santoro
BACKGROUND: Disease-modifying therapies (DMTs) have revolutionized the management of multiple sclerosis (MS). Many DMTs have a risk of teratogenic outcomes, which is notable as MS disproportionally affects women of reproductive age and the rates of unplanned pregnancies among persons with MS (PwMS) are as high as 34%. Prior research suggests that patients' culture may influence their perspectives surrounding family planning. Given our institution's patient population, we compared the spectrum of knowledge in Hispanic and non-Hispanic patients with pediatric-onset MS (POMS) regarding DMTs and their associated risks during pregnancy and possible disparities in their treatment and counseling...
May 28, 2024: Pediatric Neurology
https://read.qxmd.com/read/38917516/electroencephalographic-patterns-on-follow-up-visits-in-extremely-premature-infants-with-periventricular-leukomalacia-an-observational-study
#17
JOURNAL ARTICLE
Sammie Lai, Jacob Keeley, Danielle Nolan, Elizabeth Kring, Nicole Rickard, Amanda S Froling, Rawad Obeid
BACKGROUND: Periventricular leukomalacia (PVL) is a common brain injury in premature infants, and epilepsy remains a significant complication. One concerning electroencephalographic (EEG) pattern found is developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This pattern is associated with persistent neuropsychological and motor deficits, even without a diagnosis of epilepsy. The purpose of this study is to identify the relationships between various PVL grades and EEG patterns in this population on follow-up visits, especially the occurrence of DEE-SWAS pattern on EEG...
May 25, 2024: Pediatric Neurology
https://read.qxmd.com/read/38905744/calcitonin-gene-related-peptide-inhibitors-in-the-treatment-of-migraine-in-the-pediatric-and-adolescent-populations-a-review
#18
REVIEW
Lisa Moore, Ann Pakalnis
There are limited well-studied treatments for migraine in the pediatric population. Calcitonin gene-related peptide (CGRP) inhibitors are an established safe and effective treatment in adults, and use may be appropriate for pediatric patients in certain clinical situations. We describe migraine pathophysiology as it relates to CGRP, provide an overview of available medications, and discuss clinical usage in this population.
May 23, 2024: Pediatric Neurology
https://read.qxmd.com/read/38917518/solitary-tumefactive-demyelinating-lesions-in-children-clinical-and-magnetic-resonance-imaging-features-pathologic-characteristics-and-outcomes
#19
JOURNAL ARTICLE
Sarah Frankl, Angela Viaene, Arastoo Vossough, Amy Waldman, Sarah Hopkins, Brenda Banwell
BACKGROUND: Isolated tumefactive demyelinating lesions (≥2 cm) may be difficult to distinguish from contrast-enhancing brain tumors, central nervous system infections, and (rarely) tissue dysgenesis, which may all occur with increased signal on T2-weighted images. Establishing an accurate diagnosis is essential for management, and we delineate our single-center experience. METHODS: We performed a retrospective review of medical records, imaging, and biopsy specimens for patients under 18 years presenting with isolated tumefactive demyelination over a 10-year period...
May 20, 2024: Pediatric Neurology
https://read.qxmd.com/read/38925093/an-unusual-case-of-hypothalamic-hamartoma-with-nongelastic-seizures-and-posterior-cortex-connectivity
#20
JOURNAL ARTICLE
Ruba Al-Ramadhani, Sonam Bhalla, Donald J Bearden, Kimi Ono, Joshua Chern, Ammar Kheder
BACKGROUND: To describe a rare seizure semiology originating from a hypothalamic hamartoma in a child, along with unusual ictal onset and connectivity pattern, and provide a review of the pathophysiology of epilepsy associated with hypothalamic hamartoma and management. METHODS: A detailed retrospective chart review and literature search were performed using Pubmed and Embase. RESULTS: We present a case of a three-year-old male who presented with dyscognitive seizures with onset at age 22 months...
May 19, 2024: Pediatric Neurology
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