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https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#1
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28299298/family-stigma-associated-with-epilepsy-a-qualitative-study
#2
Reza Nabi Amjad, Alireza Nikbakht Nasrabadi, Elham Navab
Introduction: Harmful nature of epilepsy can affect the patient and their parent. Stigma, arising from it, affects the patient and their family. To relieve it understanding the experiences of the parent are useful. This study was aimed at understanding the experiences of parent of child with epilepsy in Iran. Methods: In this interpretative phenomenological study, 10 parents who took care of their child with epilepsy were participated. Data were collected through in-depth semi-structured interviews. After transcription, data were analyzed using Van Manen's method...
March 2017: Journal of Caring Sciences
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#3
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28286253/chiari-i-malformation-in-a-child-with-pten-hamartoma-tumor-syndrome-association-or-coincidence
#4
Veronica Saletti, Silvia Esposito, Angelo Maccaro, Sabrina Giglio, Laura Grazia Valentini, Luisa Chiapparini
PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28285234/caregiver-reported-religious-beliefs-and-complementary-and-alternative-medicine-use-among-children-admitted-to-an-epilepsy-monitoring-unit
#5
Julia Fleming Beattie, Matthew D Thompson, Pamela H Parks, Ruth Q Jacobs, Monisha Goyal
Complementary and alternative medicine (CAM) includes a wide range of practices and products that are generally outside the use of conventional medicine as practiced in Western cultures. Use of CAM in persons with epilepsy is high, even compared to individuals with other chronic health conditions. In this study, we surveyed caregivers of children admitted to a regional epilepsy monitoring unit (EMU) in the southeast United States to assess CAM use among patients (N=225). Thirteen percent of respondents indicated current use of CAM by their child, 16% reported past use, and 43% reported interest in future use, most commonly in marijuana as a potential treatment (23%)...
March 8, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28275953/design-and-comparative-evaluation-of-the-anticonvulsant-profile-carbonic-anhydrate-inhibition-and-teratogenicity-of-novel-carbamate-derivatives-of-branched-aliphatic-carboxylic-acids-with-4-aminobenzensulfonamide
#6
David Bibi, Hafiz Mawasi, Alessio Nocentini, Claudiu T Supuran, Bogdan Wlodarczyk, Richard H Finnell, Meir Bialer
Epilepsy is one of the most common neurological diseases, with between 34 and 76 per 100,000 people developing epilepsy annually. Epilepsy therapy for the past 100(+) years is based on the use of antiepileptic drugs (AEDs). Despite the availability of more than twenty old and new AEDs, approximately 30% of patients with epilepsy are not seizure-free with the existing medications. In addition, the clinical use of the existing AEDs is restricted by their side-effects, including the teratogenicity associated with valproic acid that restricts its use in women of child-bearing age...
March 9, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28259032/decreased-health-care-utilization-and-health-care-costs-in-the-inpatient-and-emergency-department-setting-following-initiation-of-ketogenic-diet-in-pediatric-patients-the-experience-in-ontario-canada
#7
Sharon Whiting, Elizabeth Donner, Rajesh RamachandranNair, Jennifer Grabowski, Nathalie Jetté, Daniel Rodriguez Duque
OBJECTIVE: To assess the change in inpatient and emergency department utilization and health care costs in children on the ketogenic diet for treatment of epilepsy. METHODS: Data on children with epilepsy initiated on the ketogenic diet (KD) Jan 1, 2000 and Dec 31, 2010 at Ontario pediatric hospitals were linked to province wide inpatient, emergency department (ED) data at the Institute for Clinical Evaluative Sciences. ED and inpatient visits and costs for this cohort were compared for a maximum of 2 years (730days) prior to diet initiation and for a maximum of 2 years (730days) following diet initiation...
February 20, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28242084/understanding-death-in-children-with-epilepsy
#8
REVIEW
Elizabeth J Donner, Peter Camfield, Linda Brooks, Jeffrey Buchhalter, Carol Camfield, Tobias Loddenkemper, Elaine Wirrell
Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurologic disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP)...
January 31, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28241263/bridging-knowledge-gaps-to-understand-how-zika-virus-exposure-and-infection-affect-child-development
#9
Bill G Kapogiannis, Nahida Chakhtoura, Rohan Hazra, Catherine Y Spong
Importance: The Zika virus (ZIKV) epidemic has profoundly affected the lives of children and families across the Americas. As the number of children born with ZIKV-related complications continues to grow, the long-term developmental trajectory for these children and the effect on their families remains largely unknown. In September 2016, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and partner National Institutes of Health institutes convened a workshop to develop a research agenda to improve the evaluation, monitoring, and management of neonates, infants, or children affected by ZIKV and its complications...
February 20, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28238390/electro-clinical-etiological-associations-of-epilepsia-partialis-continua-in-57-chinese-children
#10
Hui Li, Jiao Xue, Ping Qian, Yuehua Zhang, Xinhua Bao, Xiaoyan Liu, Zhixian Yang
OBJECTIVE: Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiological associations. METHODS: We retrospectively reviewed 57 children diagnosed with EPC in our department over last ten years. Etiology, clinical and EEG data, and outcome were categorized and analyzed...
February 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28237319/epilepsy-treatment-in-adults-and-adolescents-expert-opinion-2016
#11
REVIEW
Jerry J Shih, Julia B Whitlock, Nicole Chimato, Emily Vargas, Steven C Karceski, Ryan D Frank
INTRODUCTION: There are over twenty anti-seizure medications and anti-seizure devices available commercially in the United States. The multitude of treatment options for seizures can present a challenge to clinicians, especially those who are not subspecialists in the epilepsy field. Many clinical questions are not adequately answered in double-blind randomized controlled studies. In the presence of a knowledge gap, many clinicians consult a respected colleague with acknowledged expertise in the field...
February 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28237005/pediatric-epilepsy-neurology-functional-imaging-and-neurosurgery
#12
REVIEW
James M Mountz, Christina M Patterson, Mandeep S Tamber
In this chapter we provide a comprehensive review of the current role that functional imaging can have in the care of the pediatric epilepsy patient from the perspective of the epilepsy neurologist and the epilepsy neurosurgeon. In the neurology section, the diagnosis and classification of epilepsy adapted by the International League Against Epilepsy as well as the etiology and incidence of the disease is presented. The neuroimaging section describes how advanced nuclear medicine imaging methods can be synergized to provide a maximum opportunity to localize an epileptogenic focus...
March 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28235671/scn3a-deficiency-associated-with-increased-seizure-susceptibility
#13
Tyra Lamar, Carlos G Vanoye, Jeffrey Calhoun, Jennifer C Wong, Stacey B B Dutton, Benjamin S Jorge, Milen Velinov, Andrew Escayg, Jennifer A Kearney
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α subunit, have been identified in patients with focal epilepsy. Biophysical characterization of epilepsy-associated SCN3A variants suggests that both gain- and loss-of-function SCN3A mutations may lead to increased seizure susceptibility. In this report, we identified a novel SCN3A variant (L247P) by whole exome sequencing of a child with focal epilepsy, developmental delay, and autonomic nervous system dysfunction...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28230913/an-unexpected-finding-in-sudep-involving-a-child-focal-myocardial-infarct-adjacent-to-bundle-of-his
#14
Jadee L Neff, Peter T Lin
Sudden unexpected death in epilepsy (SUDEP) is a nontraumatic, nondrowning death of an individual with epilepsy in which an autopsy with appropriate ancillary studies does not identify a cause of death. The mechanism of death in SUDEP is unknown, but is thought to involve cardiac and/or respiratory mechanisms. Research in SUDEP is hindered by a lack of consensus regarding required components of a death investigation before a cause of death may be certified as SUDEP. Histopathologic examination of the cardiac conduction system is not routinely performed in SUDEP death investigations...
February 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28214777/utility-of-long-term-video-eeg-monitoring-for-children-with-staring
#15
Anup D Patel, Babitha Haridas, Zachary M Grinspan, Jack Stevens
OBJECTIVE: Staring spells are a common reason for referral to overnight epilepsy monitoring unit (EMU) evaluation. However, inpatient EMU admissions are expensive and time consuming. This study determined what percentage of those referred for staring had a confirmed epileptic seizure on long-term video-EEG monitoring (LTM) and developed a scoring system to help prioritize which patients should undergo this procedure. METHODS: We performed a four-year retrospective chart review of all children at a tertiary pediatric hospital who received LTM (long-term monitoring) for the purposes of characterizing staring...
February 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#16
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28203222/unexpected-death-of-a-child-with-complex-febrile-seizures-pathophysiology-similar-to-sudden-unexpected-death-in-epilepsy
#17
Brian J Dlouhy, Michael A Ciliberto, Christina L Cifra, Patricia A Kirby, Devin L Shrock, Marcus Nashelsky, George B Richerson
Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. She was resuscitated and pronounced brain dead 2 days later at our regional medical center. Autopsy revealed multiorgan effects of hypoperfusion and did not reveal an underlying (precipitating) disease, injury, or toxicological cause of death...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28199920/family-burden-child-disability-and-the-adjustment-of-mothers-caring-for-children-with-epilepsy-role-of-social-support-and-coping
#18
Jeffrey M Carlson, Paul A Miller
PURPOSE: This study was designed to contribute to the existing research on the coping behaviors, social support, and mental health outcomes in parents of children with epilepsy in the United States. METHODS: Participants included 152, predominantly Caucasian (89.5%), married (78.9%) women (95.4%). Via a web-based interface, mothers completed questionnaires assessing the impact of their child's disability on their family (i.e., severity of their child's disability, family burden, and personal stress), social resources (i...
February 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28188601/sensitivity-of-the-uk-clinical-practice-research-datalink-to-detect-neurodevelopmental-effects-of-medicine-exposure-in-utero-comparative-analysis-of-an-antiepileptic-drug-exposed-cohort
#19
R A Charlton, A McGrogan, J Snowball, L M Yates, A Wood, J Clayton-Smith, W H Smithson, J L Richardson, N McHugh, S H L Thomas, G A Baker, R Bromley
INTRODUCTION: Electronic healthcare data have several advantages over prospective observational studies, but the sensitivity of data on neurodevelopmental outcomes and its comparability with data generated through other methodologies is unknown. OBJECTIVES: The objectives of this study were to determine whether data from the UK Clinical Practice Research Datalink (CPRD) produces similar risk estimates to a prospective cohort study in relation to the risk of neurodevelopmental disorders (NDDs) following prenatal antiepileptic drug (AED) exposure...
February 10, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28183009/similarities-and-differences-in-the-meanings-children-and-their-parents-attach-to-epilepsy-medications
#20
Michelle Webster
By exploring the meanings children and their parents attached to two household treatments for childhood epilepsy (antiepileptic drugs and emergency medications), this paper broadens our understanding of the ways in which children view their medications and how these views can impact on their adherence to treatment. The paper draws on data collected during 2013 and 2014 from 24 families across the UK that had a child with epilepsy aged 3-13 years. In-depth semi-structured interviews were conducted with the parents and 10 children participated in autodriven photo-elicitation interviews...
February 1, 2017: Social Science & Medicine
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