journal
https://read.qxmd.com/read/37709600/corrigendum-to-selection-and-continuation-of-antiseizure-medication-in-children-with-epilepsy-in-sweden-from-2007-to-2020-pediatric-neurology-144-2023-19-25
#1
Samuel Håkansson, Ronny Wickström, Johan Zelano
No abstract text is available yet for this article.
September 12, 2023: Pediatric Neurology
https://read.qxmd.com/read/37659138/explainable-artificial-intelligence-point-and-counterpoint
#2
LETTER
Andrew T Knox, Yasmin Khakoo, Grace Gombolay
No abstract text is available yet for this article.
August 31, 2023: Pediatric Neurology
https://read.qxmd.com/read/37725885/leveraging-chatgpt-in-the-pediatric-neurology-clinic-practical-considerations-for-use-to-improve-efficiency-and-outcomes
#3
JOURNAL ARTICLE
Cemal Karakas, Dylan Brock, Arpita Lakhotia
BACKGROUND: Artificial intelligence (AI) is progressively influencing healthcare sectors, including pediatric neurology. This paper aims to investigate the potential and limitations of using ChatGPT, a large language model (LLM) developed by OpenAI, in an outpatient pediatric neurology clinic. The analysis focuses on the tool's capabilities in enhancing clinical efficiency, productivity, and patient education. METHOD: This is an opinion-based exploration supplemented with practical examples...
August 29, 2023: Pediatric Neurology
https://read.qxmd.com/read/37713978/mirror-movements-due-to-a-tubb3-variant
#4
JOURNAL ARTICLE
Clément Desjardins, Domitille Gras, Oriane Trouillard, Caroline Dubacq, Odile Boespflug Tanguy, Emmanuel Roze
No abstract text is available yet for this article.
August 25, 2023: Pediatric Neurology
https://read.qxmd.com/read/37734130/de-novo-variants-in-rab11b-cause-various-degrees-of-global-developmental-delay-and-intellectual-disability-in-children
#5
JOURNAL ARTICLE
Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaetan Lesca, Zeynep Gokce-Samar, Kedous Y Mekbib, Sheng Chih Jin, Jennifer Burton, George Hoganson, Andrea Petersen, Sara Gracie, Leslie Granger, Enrika Bartels, Henry Oppermann, Adam Kundishora, Marianne Till, Clara Milleret-Pignot, Shane Dangerfield, David Viskochil, Katherine J Anderson, Timothy Blake Palculict, Rhonda E Schnur, Ingrid M Wentzensen, George E Tiller, Kristopher T Kahle, Wolfram S Kunz, Sebastian Burkart, Matias Simons, Heinrich Sticht, Rami Abou Jamra, Sonja Neuser
BACKGROUND: RAB11B was described previously once with a severe form of intellectual disability. We aim at validation and delineation of the role of RAB11B in neurodevelopmental disorders. METHODS: We present seven novel individuals with disease-associated variants in RAB11B when compared with the six cases described in the literature. We performed a cross-sectional analysis to identify the clinical spectrum and the core phenotype. Additionally, structural effects of the variants were assessed by molecular modeling...
August 24, 2023: Pediatric Neurology
https://read.qxmd.com/read/37703655/perinatal-stroke-in-a-chinese-neonatal-center-clinical-characteristics-long-term-outcomes-and-prognostic-factors
#6
JOURNAL ARTICLE
Qianqian Xia, Fa Guo, Xinlin Hou, Zezhong Tang, Lili Liu
BACKGROUND: Neonatal stroke manifests atypically and can potentially result in significant neurological sequelae in affected infants. Studies on long-term neurodevelopmental outcomes and prognostic factors are limited. We aimed to assess the clinical characteristics, long-term outcomes, and prognostic factors of perinatal stroke. METHODS: Patients diagnosed with perinatal stroke were enrolled from 2009 to 2018. Clinical data including general information, clinical manifestations, and risk factors were collected and compared...
August 22, 2023: Pediatric Neurology
https://read.qxmd.com/read/37703654/oculomotor-nerve-palsy-in-a-10-year-old-boy-after-vaccination-with-biontech-pfizer-against-coronavirus-disease-2019-a-case-report
#7
JOURNAL ARTICLE
Dionysia K Gkougka, Chrisanthy S Tsimakidi, Spyridon Mesimvrinos, Eleni Vekri, Charalampos Kotsalis
No abstract text is available yet for this article.
August 22, 2023: Pediatric Neurology
https://read.qxmd.com/read/37699270/long-term-functional-outcome-following-neurosurgical-intervention-for-suspected-abusive-head-trauma
#8
JOURNAL ARTICLE
Jordan J Bozer, Maxwell D Gruber, Megan M Letson, Kristin G Crichton, Courtney E Rice, Naveen Qureshi, Jeffrey R Leonard, Eric A Sribnick
BACKGROUND: The purpose of this study was to evaluate the long-term functional and neurodevelopmental outcomes in pediatric patients who underwent neurosurgical intervention following suspected abusive head trauma (AHT). METHODS: We performed a single-center retrospective review (January 1, 2007, to December 31, 2019) of patients aged less than three years who had intracranial injury suspicious for AHT and received a neurosurgical procedure. Long-term functional outcome was measured using the Pediatric Cerebral Performance Category (PCPC), Pediatric Overall Performance Category (POPC), and the Mullen Scales of Early Learning (MSEL)...
August 22, 2023: Pediatric Neurology
https://read.qxmd.com/read/37690270/etiologies-of-brain-arteriovenous-malformation-recurrence-a-focus-on-pediatric-disease
#9
REVIEW
David C Lauzier, Sarah N Chiang, Christopher J Moran
Pediatric brain arteriovenous malformations are a major cause of morbidity and mortality, with the harmful effects of this disease compounded by the additional disability-years experienced by children with ruptured or other symptomatic arteriovenous malformations. In addition to the risks shared with their adult counterparts, pediatric patients frequently experience recurrence following radiographic cure, which presents an additional source of morbidity and mortality. Therefore, there is a need to synthesize potential mechanisms contributing to the elevated recurrence risk in the pediatric population and discuss how these translate to practical considerations for managing these patients...
August 22, 2023: Pediatric Neurology
https://read.qxmd.com/read/37690269/magnetic-resonance-imaging-based-distribution-and-reversibility-of-lesions-in-pediatric-vigabatrin-related-brain-toxicity
#10
JOURNAL ARTICLE
Luis Octavio Tierradentro-García, Alireza Zandifar, Joseph Stern, Jean Henri Nel, Jorge Du Ub Kim, Savvas Andronikou
BACKGROUND: We aimed to systematically characterize the magnetic resonance imaging (MRI) findings in vigabatrin-related neurotoxicity in children and determine the reversibility of lesions based on follow-up images. METHODS: We evaluated children with a history of refractory seizures who had a brain MRI while on vigabatrin therapy. We included available brain MRI studies before vigabatrin therapy initiation, during vigabatrin treatment, and after vigabatrin was discontinued...
August 22, 2023: Pediatric Neurology
https://read.qxmd.com/read/37688972/electroencephalogram-signatures-can-aid-in-the-diagnostic-odyssey-of-various-epileptic-syndromes
#11
LETTER
Sujatha Manjunathan, Pradeep Kumar Gunasekaran, Lokesh Saini
No abstract text is available yet for this article.
August 22, 2023: Pediatric Neurology
https://read.qxmd.com/read/37722300/treatment-of-refractory-epilepsy-with-mek-inhibitor-in-patients-with-rasopathy
#12
JOURNAL ARTICLE
Gianluca D'Onofrio, Marie-Ange Delrue, Anne Lortie, Christopher Marquis, Pasquale Striano, Magdalena Jaworski, Gregor Andelfinger, Sebastien Perreault
BACKGROUND: Several specific syndromes within the RASopathies spectrum lead to an increased risk of seizures up to developing refractory epileptic encephalopathy. Management remains symptomatic. METHODS: Here we report two patients treated with trametinib, a MEK1-2 inhibitor, as a precision strategy for drug-resistant epilepsy. Patient 1 is a six-year-old girl with cardiofaciocutaneous syndrome (BRAF p.F595L, germline mutation), and Patient 2 is a 14-month-old boy with Schimmelpenning syndrome (KRAS p...
August 20, 2023: Pediatric Neurology
https://read.qxmd.com/read/37690268/electroencephalography-quality-and-application-times-in-a-pediatric-emergency-department-setting-a-feasibility-study
#13
JOURNAL ARTICLE
Carol M Stephens, Sean R Mathieson, Brian McNamara, Niamh McSweeney, Rory O'Brien, Olivia O'Mahony, Geraldine B Boylan, Deirdre M Murray
BACKGROUND: Status epilepticus is the most common neurological emergency presenting to pediatric emergency departments. Nonconvulsive status epilepticus can be extremely challenging to diagnose, however, requiring electroencephalographic (EEG) confirmation for definitive diagnosis. We aimed to determine the feasibility of achieving a good-quality pediatric EEG recording within 20 minutes of presentation to the emergency department. METHODS: Single-center prospective feasibility study in Cork University Hospital, Ireland, between July 2021 and June 2022...
August 20, 2023: Pediatric Neurology
https://read.qxmd.com/read/37722301/electroclinical-features-in-two-novel-strada-patients-and-a-functional-yeast-assay-for-the-validation-of-missense-strada-mutations
#14
JOURNAL ARTICLE
Caterina Ancora, Marco Marchi, Claudia Maria Bonardi, Geppo Sartori, Raffaele Lopreiato, Daniela Zuccarello, Ignazio D'Errico, Margherita Nosadini, Stefano Sartori, Clementina Boniver, Irene Toldo, Leonardo Salviati
Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychomotor delay, multisystemic comorbidities, and increased risk of premature death. The administration of sirolimus, an mTOR inhibitor, is helpful in controlling seizures in this syndrome. We report the electroclinical phenotype of two novel patients and the development of a yeast model to validate the pathogenicity of missense variants...
August 19, 2023: Pediatric Neurology
https://read.qxmd.com/read/37713976/longitudinal-characterization-of-the-clinical-course-of-intermediate-severe-salla-disease
#15
JOURNAL ARTICLE
Alexandra Chapleau, Amytice Mirchi, Luan T Tran, Chantal Poulin, Geneviève Bernard
BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage disease. Intermediate-severe Salla disease is the most recently described form. Here, we report a longitudinal characterization of intermediate-severe Salla disease progression in two sisters carrying the following biallelic variants in SLC17A5: c...
August 19, 2023: Pediatric Neurology
https://read.qxmd.com/read/37703657/neurocognitive-profiles-in-adolescents-with-postural-tachycardia-syndrome-and-perceived-brain-fog-a-preliminary-report
#16
JOURNAL ARTICLE
Sarah A Koch, Imad T Jarjour, Karen D Evankovich
BACKGROUND: Postural tachycardia syndrome (POTS) is associated with complaints of cognitive and emotional difficulties that may contribute to severe functional disability. For high-achieving adolescents, these symptoms can result in decreased participation in school and extracurricular activities. There are very limited data comparing subjective symptom reports to neurocognitive profiles in adolescents presenting with POTS, "brain fog," and cognitive difficulties. METHODS: A review of medical records and neuropsychological data was conducted for six adolescents diagnosed with POTS at a pediatric neurology clinic...
August 17, 2023: Pediatric Neurology
https://read.qxmd.com/read/37713977/pediatric-postmortem-tissue-donation-in-the-confines-of-a-pandemic-a-model-of-collaboration
#17
JOURNAL ARTICLE
Esteban U Arias-Stella, Cindy Campbell, David J Pisapia, Carolina Cocito, Sheila McThenia, Melanie Degliuomini, Jeffrey P Greenfield, Yasmin Khakoo
BACKGROUND: Obtaining postmortem tissue from pediatric oncology patients is critical to research and may help grieving families heal. Since 2019, the national Gift from a Child program has made significant progress in collecting postmortem tissue from pediatric patients with central nervous system tumors to advance research. This progress was at risk during the onset of the severe acute respiratory syndrome coronavirus 2 pandemic, when some autopsy programs came to a halt. METHODS: We retrospectively reviewed autopsies of four patients treated at Memorial Sloan Kettering Cancer Center who underwent postmortem examination at Weill Cornell Medicine from June 2020 to March 2021...
August 16, 2023: Pediatric Neurology
https://read.qxmd.com/read/37666206/relationship-between-electroencephalography-and-seizure-outcome-in-typical-absence-seizures-in-children
#18
JOURNAL ARTICLE
Susan Harvey, Claire Thompson, Odette O'Flaherty, Louise Scott, Siobhan O'Malley, Declan O'Rourke, Bryan Lynch, Kathleen M Gorman, Emily Conroy, Amre Shahwan
BACKGROUND: Typical absence seizures (TAS) are seen in idiopathic generalized epilepsy. Electroencephalography (EEG) contributes to syndrome characterization and counseling in an area where genetics does not currently play a significant role. Prominent interictal EEG findings are seen in juvenile absence epilepsy (JAE) and are thus thought to be associated with less favorable outcome in any TAS case despite lack of evidence. Our study evaluates EEG findings and their association with seizure outcomes in children with TAS...
August 11, 2023: Pediatric Neurology
https://read.qxmd.com/read/37651976/stroke-in-the-developing-brain-neurophysiologic-implications-of-stroke-timing-location-and-comorbid-factors
#19
REVIEW
Nayo M Hill, Laura A Malone, Lisa R Sun
BACKGROUND: Pediatric stroke, which is unique in that it represents a static insult to a developing brain, often leads to long-term neurological disability. Neuroplasticity in infants and children influences neurophysiologic recovery patterns after stroke; therefore outcomes depend on several factors including the timing and location of stroke and the presence of comorbid conditions. METHODS: In this review, we discuss the unique implications of stroke occurring in the fetal, perinatal, and childhood/adolescent time periods...
August 11, 2023: Pediatric Neurology
https://read.qxmd.com/read/37651975/docosahexaenoic-acid-plus-piracetam-versus-piracetam-alone-for-treatment-of-breath-holding-spells-in-children-a-randomized-clinical-trial
#20
JOURNAL ARTICLE
Abeer Salamah, Amira Hamed Darwish
BACKGROUND: Piracetam is the most widely used drug in breath-holding spells (BHS); however, its efficacy might not be satisfying to parents. This study aimed to compare the efficacy of docosahexaenoic acid (DHA) plus piracetam with piracetam alone in reducing the frequency and severity of BHS in infants and preschool children. METHODS: This randomized clinical trial included two groups diagnosed with BHS. Group I included 50 patients who received DHA plus piracetam...
August 9, 2023: Pediatric Neurology
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