journal
https://read.qxmd.com/read/38167978/good-outcome-of-resective-epilepsy-surgery-in-a-one-year-old-child-with-drug-resistant-focal-epilepsy-with-a-novel-pathogenic-col4a1-mutation
#21
JOURNAL ARTICLE
Nicholas Fearns, Matias Wagner, Ingo Borggräfe, Mathias Kunz, Jan Rémi, Christian Vollmar
Pathogenic variants in COL4A1, encoding the alpha chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical development, thereby causing structural epilepsy. This case illustrates successful resective epilepsy surgery in a 12-month-old girl with left occipital focal cortical dysplasia (FCD) associated with a heterozygous splice-donor variant in COL4A1. She presented with drug-resistant focal epilepsy with daily seizures from the age of 2 months, refractory to several combinations of antiseizure medications, as well as mild right-sided hemiparesis and developmental delay...
January 2, 2024: Neuropediatrics
https://read.qxmd.com/read/38181818/mapping-the-current-research-on-mindfulness-interventions-for-individuals-with-cerebral-palsy-a-scoping-review
#22
REVIEW
Roberto Tedeschi
Cerebral palsy (CP) is a chronic neurological disorder that can cause motor and cognitive disabilities. Mindfulness is a form of meditation that has gained attention as a potential therapeutic intervention for improving the health and well-being of patients with CP. Four databases were searched until January 2023. A scoping review was conducted to explore the role of mindfulness in the management of CP by reviewing the available scientific literature. Studies that examined the effects of mindfulness on motor function, communication, and quality of life in patients with CP were analyzed...
April 2024: Neuropediatrics
https://read.qxmd.com/read/37984419/seizure-control-outcomes-following-resection-of-cortical-dysplasia-in-patients-with-depdc5-variants-a-systematic-review-and-individual-patient-data-analysis
#23
JOURNAL ARTICLE
Christopher McGinley, Saige Teti, Katherine Hofmann, John M Schreiber, Nathan T Cohen, William D Gaillard, Chima O Oluigbo
There is insufficient evidence regarding the efficacy of epilepsy surgery in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 (dishevelled EGL-10 and pleckstrin domain-containing protein 5) pathogenic (P), likely pathogenic (LP), or variance of unknown significance (VUS) variants. To conduct a systematic review on the literature regarding the use and efficacy of epilepsy surgery as an intervention for patients with DEPDC5 variants who have pharmacoresistant epilepsy. A systematic review of the current literature published regarding the outcomes of epilepsy surgery for patients with DEPDC5 variants was conducted...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37913822/the-possible-role-of-the-superior-sagittal-sinus-in-regulating-cerebrospinal-fluid-dynamics-among-preterm-infants-a-case-report-and-a-review-of-the-literature
#24
REVIEW
Chiara Andreato, Sara Uccella, Marcella Battaglini, Mattia Pacetti, Domenico Tortora, Luca A Ramenghi
We report the case of a preterm of 27 weeks of gestation who developed posthemorrhagic ventricular dilatation associated to a complete thrombosis of the superior sagittal sinus, for its peculiar interest in clarifying the physiology of the cerebrospinal fluid (CSF) dynamics. The exact CSF volume that must be removed to improve cerebral hemodynamics and outcomes in infants with posthemorrhagic ventricular dilatation is unknown. According to Volpe's studies, a volume of 10 to 15 mL/kg/die of body weight is commonly chosen...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37871611/effects-of-neonatal-hypoxic-ischemic-injury-on-brain-sterol-synthesis-and-metabolism
#25
JOURNAL ARTICLE
Amanda M Dave, Ned A Porter, Zeljka Korade, Eric S Peeples
BACKGROUND:  Neonatal hypoxic-ischemic brain injury (HIBI) results from disruptions to blood supply and oxygen in the perinatal brain. The goal of this study was to measure brain sterol metabolites and plasma oxysterols after injury in a neonatal HIBI mouse model to assess for potential therapeutic targets in the brain biochemistry as well as potential circulating diagnostic biomarkers. METHODS:  Postnatal day 9 CD1-IGS mouse pups were randomized to HIBI induced by carotid artery ligation followed by 30 minutes at 8% oxygen or to sham surgery and normoxia...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37827512/distinctive-amplitude-integrated-eeg-ictal-pattern-and-targeted-therapy-with-carbamazepine-in-kcnq2-and-kcnq3-neonatal-epilepsy-a-case-series
#26
JOURNAL ARTICLE
Ana Vilan, Ana Grangeia, José Mendes Ribeiro, Maria Roberta Cilio, Linda S de Vries
BACKGROUND:  Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern. OBJECTIVE:  To assess how improved recognition of the distinctive aEEG ictal pattern associated with KCNQ2/3 variants has enabled early and effective targeted therapy with CBZ. METHODS:  Retrospective descriptive study of five neonates with KCNQ2/3 pathogenic gene variants admitted at a level 3 neonatal intensive care unit (NICU) over an 8-year period...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37798920/spectrum-evolution-and-clinical-relationship-of-magnetic-resonance-imaging-in-31-children-with-febrile-infection-related-epilepsy-syndrome
#27
JOURNAL ARTICLE
Darinka Moreno-Brauer, Martin Häusler, Gerhard Kluger, Johannes Hensler, Andreas van Baalen
OBJECTIVE:  Describing spectrum, evolution, and clinical relationship of brain magnetic resonance imaging (MRI) findings in a large case series of children with febrile infection-related epilepsy syndrome (FIRES). METHODS:  This retrospective study included 31 children with FIRES. Clinical data and MRI findings of the brain were evaluated. Poor clinical outcome was defined as severe disability, persistent vegetative state or stupor, very low intelligence quotient (<80), or death (modified Rankin scale 4-6 and Glasgow Outcome Score 1-3)...
February 2024: Neuropediatrics
https://read.qxmd.com/read/38158208/psychomotor-and-cognitive-outcome-in-very-preterm-infants-in-vorarlberg-austria-2007-2019
#28
Fabio Jenni, Karin Konzett, Stefanie Gang, Verena Maria Sparr, Burkhard Simma
AIM: To analyze neurodevelopmental outcome of very and extremely preterm infants in Vorarlberg, Austria, accessed with neurodevelopmental testing, at the corrected age of 24 months. Also, to compare these results with (inter)national data and to analyze the impact of perinatal parameters. METHODS: Population-based, retrospective multi-centre study with data on very and extremely preterm infants born in Vorarlberg from 2007 - 2019, assessed with Bayley Scales of Infant Development (BSID-II/Bayley-III)...
December 29, 2023: Neuropediatrics
https://read.qxmd.com/read/37973159/anti-nmda-autoimmune-encephalitis-post-covid-19-vaccination-in-a-pediatric-patient-a-case-report
#29
JOURNAL ARTICLE
Haila Alabssi, Nouf F Almulhim, Mohammed Al-Omari, Ayat H Safar
Post-coronavirus disease 2019 (COVID-19) vaccination encephalitis is rarely reported particularly in the pediatric population. Herein, we report the first case of postvaccination anti-N-methyl-d-aspartate (NMDA) encephalitis in close temporal association with receiving COVID-19 vaccine in a pediatric patient. The patient is a 13-year-old female who received the first dose of the Pfizer-BioNTech COVID-19 vaccine and presented with subacute neurological and psychiatric symptoms and eventually confirmed the diagnosis of anti-NMDA autoimmune encephalitis...
December 28, 2023: Neuropediatrics
https://read.qxmd.com/read/38122810/evaluation-of-neurodevelopmental-screening-test-scores-in-children-with-vitamin-b12-deficiency
#30
JOURNAL ARTICLE
Ceren Tanc, Ismail Yildiz
INTRODUCTION:  Vitamin B12 deficiency can lead to hematological findings, neurological symptoms, and neurodevelopmental delay. The aim of this study was to investigate the impact of vitamin B12 deficiency on the neurodevelopment of children. MATERIALS AND METHODS:  This study included 89 children aged between 6 and 24 months without any complaints; 44 of these were evaluated in the study group (serum vitamin B12 <300 pg/mL) and 45 in the control group (serum vitamin B12 ≥300 pg/mL)...
December 20, 2023: Neuropediatrics
https://read.qxmd.com/read/38122809/effectiveness-of-neuropediatric-inpatient-rehabilitation
#31
JOURNAL ARTICLE
Hannah Stadler, Kristina Müller, Gerhard Kurlemann, Michael Lendt
AIM:  Inpatient rehabilitation plays an important role in treating neurological diseases in children and adolescents. However, there is a lack of current research concerning this matter. This retrospective study aims to analyze the effectiveness of neuropediatric inpatient rehabilitation, to identify influencing factors, and to examine the importance of inpatient rehabilitation programs. METHODS:  We reviewed medical records of patients, diagnosed with cerebral palsy, traumatic brain injury (TBI), or stroke who had an inpatient rehabilitation at the Department of Neuropediatrics of St...
December 20, 2023: Neuropediatrics
https://read.qxmd.com/read/37813123/hyperventilation-and-seizures-not-a-new-sense-a-literature-review
#32
REVIEW
Mandeep Rana, Maija Steenari, Daniel Shrey
Hyperventilation and seizures have a long association in the clinical literature and were known to have a relationship long before the electroencephalogram (EEG) was used to record changes in brain activity. As the use of EEG recording progressed, hyperventilation was the first activation method used to assist with diagnosis of epilepsy. Along with slowing of brain activity, hyperventilation can activate epileptiform spiking activity in patients with epilepsy. Currently, hyperventilation is used in standard practice to assist with the diagnosis of epilepsy during EEG recording...
December 2023: Neuropediatrics
https://read.qxmd.com/read/37802085/electroclinical-features-of-epilepsy-in-kleefstra-syndrome
#33
MULTICENTER STUDY
Thea Giacomini, Ramona Cordani, Irene Bagnasco, Fabiana Vercellino, Lucio Giordano, Giuseppe Milito, Giovanni Battista Ferrero, Giorgia Mandrile, Marcello Scala, Mariaclaudia Meli, Raffaele Falsaperla, Gianvittorio Luria, Elisa De Grandis, Edoardo Canale, Elisabetta Amadori, Pasquale Striano, Lino Nobili, Laura Siri
BACKGROUND:  Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone methyltransferase 1 gene ( EHMT1 , *607001). Although epilepsy has been reported in 20 to 30% of subjects, a detailed description of epileptic features and underlying etiology is still lacking...
December 2023: Neuropediatrics
https://read.qxmd.com/read/37666275/multidirectional-nystagmus-as-the-presenting-sign-of-brain-tumor-with-hydrocephalus
#34
JOURNAL ARTICLE
Tommaso Bellini, Laura Siri, Elisa De Grandis, Clelia Formigoni, Domenico Tortora, Emanuela Piccotti
No abstract text is available yet for this article.
December 2023: Neuropediatrics
https://read.qxmd.com/read/37607575/nutritional-management-in-children-and-adolescents-with-severe-neurological-impairment-who-cares-a-web-based-survey-among-pediatric-specialists-in-germany
#35
JOURNAL ARTICLE
Sara Hommel, T Lücke, A Schmidt-Choudhury
BACKGROUND:  Nutritional management of children and adolescents with severe neurological impairment (SNI) is challenging. A web-based survey was distributed to identify the present situation and the knowledge of the involved medical professionals in Germany. METHODS:  The survey was created with LimeSurvey, and access data were distributed by several medical societies. Eighty-three questions covered four topics: "general information," "gastro- and jejunostomy procedure," "handling of gastrostomies and feeding tubes," and "nutritional management and follow-up of children and adolescents with SNI...
December 2023: Neuropediatrics
https://read.qxmd.com/read/37478891/effects-of-sodium-lactate-infusion-in-two-girls-with-glucose-transporter-1-deficiency-syndrome
#36
JOURNAL ARTICLE
Loes A van Gemert, Nens van Alfen, Lizzy van Gaal, Saskia Wortmann, Michèl A Willemsen
BACKGROUND:  Glucose is an important fuel for the brain. In glucose transporter 1 deficiency syndrome (GLUT1DS), the transport of glucose across the blood-brain barrier is limited. Most individuals with GLUT1DS present with developmental problems, epilepsy, and (paroxysmal) movement disorders, and respond favorably to the ketogenic diet. Similar to ketones, lactate is an alternative energy source for the brain. The aim of this study is to investigate whether intravenous infusion of sodium lactate in children with GLUT1DS has beneficial effects on their epilepsy...
December 2023: Neuropediatrics
https://read.qxmd.com/read/37127049/trends-in-pediatric-mild-traumatic-brain-injury-during-covid-19-related-lockdown-a-single-center-study
#37
JOURNAL ARTICLE
Hanna E Kläger, Benjamin Nast-Kolb, Lea Reuter, Florian Hoffmann, Sabrina Juranek, Christoph Bidlingmaier, Nicole Fabri, Nils K T Schönberg, Johanna Wagner, Florian Heinen, Oliver Muensterer, Christiane Zeller, Anne-Sophie Holler, Alexandra Fröba-Pohl, Michaela V Bonfert
BACKGROUND:  A relevant number of visits to pediatric emergency departments (pED) are associated with mild traumatic brain injury (mTBI). On March 16, 2020, the Bavarian government declared a first full lockdown (LD) related to the coronavirus (COVID-19) pandemic. AIM:  The aim of the study was to investigate the impact of LD on pediatric mTBI. METHODS:  Retrospective chart review of presentations to a pED due to mTBI...
December 2023: Neuropediatrics
https://read.qxmd.com/read/37100402/electrical-stimulation-for-children-with-cerebral-palsy-a-meta-analysis-for-randomized-controlled-trials
#38
JOURNAL ARTICLE
Yu Liu, Hongzhi Li
BACKGROUND:  Different types of electrical stimulation (ES) showed diverse effects on children with cerebral palsy (CP). Previous studies reported inconsistent results for effects of ES on children with CP. The present study aimed to conduct a meta-analysis to summarize these diverse results. METHODS:  We searched for studies exploring effects of ES on children with CP in databases (PubMed and Web of Science) from their inception until December 2022...
December 2023: Neuropediatrics
https://read.qxmd.com/read/38029778/word-finding-difficulties-as-a-prominent-early-finding-in-a-later-diagnosis-of-attention-deficit-hyperactivity-disorder
#39
JOURNAL ARTICLE
Esther Ganelin-Cohen, Tammy Pilowsky Peleg, Noa Leibovich, Esther Bachrachg, Nathan Watemberg
OBJECTIVE:  Attention deficit hyperactivity disorder (ADHD) is a common neuropsychological disorder primarily diagnosed in childhood. Early intervention was found to significantly improve developmental outcomes, implicating on the role of early identification of ADHD markers. In the current study, we explored the developmental history of children referred to neurological assessment to identify early ADHD predictors. METHODS:  A total of 92 children and adolescents (41 females) recruited at a pediatric neurology clinic, with suspected ADHD ( n  = 39) or other neurological difficulties ( n  = 53) such as headaches, seizures, tic disorders, orthostatic hypotension, postischemic stroke, intermittent pain, and vasovagal syncope...
November 29, 2023: Neuropediatrics
https://read.qxmd.com/read/37995745/adolescent-onset-epilepsy-clinical-features-and-predictive-factors-for-first-year-seizure-freedom
#40
JOURNAL ARTICLE
Jon Soo Kim, Hyewon Woo, Jae Hee Lee, Won Seop Kim
BACKGROUND: Teenagers with epilepsy require special attention to ensure a successful treatment journey. Our objective was to delineate the clinical characteristics of adolescent-onset epilepsy and investigate the predictive factors influencing first-year seizure freedom. METHODS: We retrospectively analyzed the medical records of patients whose first seizure occurred between the ages of 10 and 19 years and who received antiseizure medication (ASM) treatment for at least 12 months...
November 23, 2023: Neuropediatrics
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