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https://www.readbyqxmd.com/read/28506504/anti-n-methyl-d-aspartate-receptor-encephalitis-appearing-as-a-new-onset-psychosis-disease-course-in-children-and-adolescents-within-the-california-encephalitis-project
#1
Mary Gable, Carol Glaser
BACKGROUND: Given that psychiatric symptoms are common, not only during the course of the illness but also on presentation, in children and adolescents with anti-N-methyl-d-aspartate receptor encephalitis, it is important that practitioners in the field of child and adolescent psychiatry possess an adequate understanding of the clinical features and potential treatment of this disease. We describe the clinical characteristics of 24 patients who presented to the California Encephalitis Project...
February 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#2
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28491196/cerebral-palsy-and-seizures-in-a-child-with-tubulinopathy-pattern-dysgenesis-and-focal-cortical-dysplasia
#3
Kevin M Sweet, Dennis W W Shaw, Teresa Chapman
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal. The patient's family sought neurodevelopmental pediatric care at a new institution following a move out of state. Electroencephalography confirmed abnormal epileptogenic activity. Brain magnetic resonance imaging showed findings consistent with a tubulin gene defect (tubulinopathy) and of focal cortical dysplasia, as well as evidence of a remote occipital lobe injury...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28490224/prevalence-of-abnormal-magnetic-resonance-imaging-findings-in-children-with-persistent-symptoms-after-pediatric-sports-related-concussion
#4
Robert H Bonow, Seth D Friedman, Francisco A Perez, Richard G Ellenbogen, Samuel R Browd, Christine L MacDonald, Monica S Vavilala, Frederick P Rivara
A subset of patients experience persistent symptoms after pediatric concussion, and magnetic resonance imaging (MRI) is commonly used to evaluate for pathology. The utility of this practice is unclear. We conducted a retrospective cohort study to describe the MRI findings in children with concussion. A registry of all patients seen at our institution from January 2010 through March 2016 with pediatric sports-related concussion was cross-referenced with a database of radiographic studies. Radiology reports were reviewed for abnormal findings...
May 10, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28488608/epilepsy-surgery-in-children
#5
REVIEW
Sita Jayalakshmi, Sudhindra Vooturi, Swapan Gupta, Manas Panigrahi
Approximately 60% of all patients with epilepsy suffer from focal epilepsy syndromes. In approximately 15% of these patients, the seizures are not adequately controlled with anticonvulsive drugs, and such patients are potential candidates for surgical treatment and majority are children. Epilepsy surgery in children, who have been carefully chosen, can result in either seizure freedom or a marked (>90%) reduction in seizures in approximately two-third of children with intractable seizures. In the multimodality presurgical evaluation approach, sufficient concordance should be established among various independent investigations, thus identifying the location and extent of the epileptogenic zone with a high degree of confidence...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28486264/temporary-seizure-in-an-infant-who-had-been-exposed-to-g-amino-butyric-acid-receptor-antagonist-thiocolchicoside
#6
Cengiz Havali, Kivilcim Gucuyener, Esra Gurkas, Ercan Demir
Seizure is the most common presentation of neurological disorder in the pediatric emergency care setting. In evaluating the child after a first seizure, the first consideration should be determining if the seizure was provoked or unprovoked. Investigation listing the causes of the first seizure is considerably long, and adverse drug reactions must be in mind. Epileptic seizures after using thiocolchicoside (TCC) have been reported in several adult patients with epilepsy and acute brain injury. We present a previously healthy 3-month-old female infant who was admitted to the emergency department with a generalized seizure after exposure to TCC...
May 8, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28485850/child-and-parent-reported-quality-of-life-trajectories-in-children-with-epilepsy-a-prospective-cohort-study
#7
Mark A Ferro, Lisa Avery, Nora Fayed, David L Streiner, Charles E Cunningham, Michael H Boyle, Lucyna Lach, Gina Glidden, Peter L Rosenbaum, Gabriel M Ronen
OBJECTIVE: To describe the developmental trajectories of quality of life (QoL) in a large cohort of children with epilepsy, and to assess the relative contribution of clinical, psychosocial, and sociodemographic variables on QoL trajectories. METHODS: Five assessments during a 28-month prospective cohort study were used to model trajectories of QoL. Participants were recruited with their parents from six Canadian tertiary centers. A convenience sample of 506 children aged 8-14 years with epilepsy and without intellectual disability or autism spectrum disorder were enrolled...
May 9, 2017: Epilepsia
https://www.readbyqxmd.com/read/28482744/accelerated-long-term-forgetting-is-not-epilepsy-specific-evidence-from-childhood-traumatic-brain-injury
#8
Suncica Lah, Carly Black, Michael Gascoigne, Chloe Gott, Adrienne Epps, Louise Parry
Accelerated long-term forgetting (ALF) is characterised by adequate recall after short, but not long delays. ALF is not detected by standardised neuropsychological memory tests. Currently, the prevailing conceptualisation of ALF is of a temporal-lobe seizure related phenomenon. Nevertheless, Mayes and colleagues (2003) proposed that ALF may arise when any of the components of the brain network involved in long-term memory formation, or their interaction is disrupted. This disruption does not have to be caused by temporal lobe seizures for ALF to occur...
May 8, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28481729/anticonvulsant-drugs-for-generalized-tonic-clonic-epilepsy
#9
Giangennaro Coppola, Alessandra Piccorossi, Francesca Felicia Operto, Alberto Verrotti
Primary generalized tonic clonic seizures (pGTCS) are still linked to major concerns for the clinic and hazards for patients suffering from idiopathic generalized epilepsy (IGE), so a quick search of the most effective and appropriate therapy is needed to control them. The key criteria for proper treatment are syndromic diagnosis and distinction between newly diagnosed and refractory patients. Other criteria include age, gender and comorbidities. Areas covered: Treatment for pGTCS has expanded in the last two years, with new antiepileptic drugs like perampanel joining valproic acid, lamotrigine, levetiracetam, topiramate, while further evidence-based data are required for zonisamide and lacosamide...
May 8, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28474389/developmental-functioning-and-medical-co-morbidity-profile-of-children-with-complex-and-essential-autism
#10
Jaimie Flor, Jayne Bellando, Maya Lopez, Amy Shui
Children with Autism Spectrum Disorders (ASD) may be characterized as "complex" (those with microcephaly and/or dysmorphology) or "essential" (those with neither of these two). Previous studies found subjects in the complex group exhibited lower IQ scores, poorer response to behavioral intervention, more seizures and more abnormal EEGs and brain MRIs compared to the essential group. The objective of this study was to determine if there are differences in complex versus essential subjects based on several developmental/psychological measures as well as certain medical comorbidities...
May 5, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28469537/rituximab-for-treatment-of-refractory-anti-nmda-receptor-encephalitis-in-a-pediatric-patient
#11
Sarah Hallowell, Esli Tebedge, Margaret Oates, Elizabeth Hand
Anti-N-methyl d-aspartate receptor (anti-NMDAR) encephalitis is a devastating disease that is increasingly being identified in both children and adults with psychosis, language disturbances, behavioral changes, and motor deficits. Currently no consensus guidelines exist for the optimal management of patients with this disease, although intravenous immune globulin (IVIG) therapy is often considered first-line pharmacotherapy. We present a case of an otherwise healthy 4 year-old-child who presented with seizures, loss of age-appropriate language skills, and behavioral changes, in whom anti-NMDAR was subsequently diagnosed...
March 2017: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/28449914/evaluation-of-sleep-organization-in-patients-with-attention-deficit-hyperactivity-disorder-adhd-and-adhd-as-a-comorbidity-of-epilepsy
#12
Felipe Kalil Neto, Magda L Nunes
OBJECTIVE/BACKGROUND: Epilepsy or attention deficit hyperactivity disorder (ADHD) can influence sleep organization in different ways. The aim of this study was to evaluate sleep organization in children and adolescents with ADHD and epilepsy, and to analyze the influence of methylphenidate. METHODS: This was an observational, cross-sectional study of children and adolescents with epilepsy, who were seizure free for at least three months, and were also diagnosed with ADHD...
May 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#13
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28431367/clinical-characterization-of-the-pre-ictal-state-in-the-pediatric-population-a-caretaker-s-perspective
#14
Puja Patel, Victor Ferastraoaru, Dov Gold, Andrew Lipnick, Rana Jehle, Sheryl R Haut
The unpredictability of seizures causes distress to patients with epilepsy and their caretakers. To date, no studies have explored seizure prediction specifically in the pediatric population. If the period of time preceding a seizure can be reliably identified, either by child or caretaker, there may be a role for pre-emptive interventions. The aim of this study was to investigate caretaker seizure prediction. A questionnaire was distributed to caretakers of patients with epilepsy. The patients were 0-21years old and experienced ≥1 seizure within the past year...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28427021/risk-factors-for-learning-problems-in-youth-with-psychogenic-non-epileptic-seizures
#15
Julia Doss, Rochelle Caplan, Prabha Siddarth, Brenda Bursch, Tatiana Falcone, Marcy Forgey, Kyle Hinman, W Curt LaFrance, Rebecca Laptook, Richard Shaw, Deborah Weisbrot, Matthew Willis, Sigita Plioplys
OBJECTIVES: This study examined the risk factors for learning problems (LP) in pediatric psychogenic non-epileptic seizures (PNES) and their specificity by comparing psychopathology, medical, cognitive/linguistic/achievement, bullying history, and parent education variables between subjects with PNES with and without LP and between subjects with PNES and siblings with LP. METHODS: 55 subjects with PNES and 35 siblings, aged 8-18years, underwent cognitive, linguistic, and achievement testing, and completed somatization and anxiety sensitivity questionnaires...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28425236/predictors-of-health-related-quality-of-life-in-childhood-epilepsy-and-comparison-with-healthy-children-findings-from-an-indian-study
#16
Dipika Bansal, Chandrika Azad, Kapil Gudala, Anil Dasari
BACKGROUND/AIM: Children with epilepsy have reduced health-related quality of life (HRQOL) due to disease and medications. We aimed to assess child-reported HRQOL in Indian children with epilepsy and compare it with that in healthy children. MATERIALS AND METHODS: A cross-sectional study of 256 children with epilepsy aged between 5 and 18 years on antiepileptic drug (AED) treatment for at least 3 months was performed and 125 age and sex matched healthy children were included...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#17
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28419635/canine-histiocytic-sarcoma-presenting-as-a-target-lesion-on-brain-magnetic-resonance-imaging-and-as-a-solitary-pulmonary-mass
#18
Jill Hicks, Renee Barber, Bronwen Childs, Shannon Gm Kirejczyk, Elizabeth W Uhl
A 6-year-old spayed female miniature schnauzer presented with generalized seizures and progressive multifocal intracranial neurologic disease. Thoracic radiographs and computed tomography (CT) revealed a large solitary pulmonary mass within the right cranial lung lobe. On brain magnetic resonance imaging (MRI), a solitary intraparenchymal mass within the left piriform lobe had a "target" appearance on both pre- and postcontrast sequences. Cerebrospinal fluid was unremarkable and histopathology indicated both masses represented histiocytic sarcoma...
April 17, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#19
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28416250/therapeutic-hypothermia-for-neonates-with-hypoxic-ischemic-encephalopathy
#20
REVIEW
Ming-Chou Chiang, Yuh-Jyh Jong, Chyi-Her Lin
Therapeutic hypothermia (TH) is a recommended regimen for newborn infants who are at or near term with evolving moderate-to-severe hypoxic ischemic encephalopathy (HIE). The Task Force of the Taiwan Child Neurology Society and the Taiwan Society of Neonatology held a joint meeting in 2015 to establish recommendations for using TH on newborn patients with HIE. Based on current evidence and experts' experiences, this review article summarizes the key points and recommendations regarding TH for newborns with HIE, including: (1) selection criteria for TH; (2) choices of method and equipment for TH; (3) TH prior to and during transport; (4) methods for temperature maintenance, monitoring, and rewarming; (5) systemic care of patients during TH, including the care of respiratory and cardiovascular systems, management of fluids, electrolytes, and nutrition, as well as sedation and drug metabolism; (6) monitoring and management of seizures; (7) neuroimaging, prognostic factors, and outcomes; and (8) adjuvant therapy for TH...
March 27, 2017: Pediatrics and Neonatology
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