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https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28182669/a-de-novo-loss-of-function-grin2a-mutation-associated-with-childhood-focal-epilepsy-and-acquired-epileptic-aphasia
#6
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang
OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal epilepsy using in vitro electrophysiology. METHODS: Genomic DNA of patients with epilepsy and ID/DD were sequenced by targeted next-generation sequencing within 300 genes related to epilepsy and ID/DD...
2017: PloS One
https://www.readbyqxmd.com/read/28178434/fever-phobia-as-a-reason-for-pediatric-emergency-department-visits-does-the-primary-care-physician-make-a-difference
#7
Erella Elkon-Tamir, Ayelet Rimon, Dennis Scolnik, Miguel Glatstein
BACKGROUND: Fever is a source of considerable parental anxiety. Numerous studies have also confirmed similar anxiety among health care workers. This study analyzed caregiver knowledge of fever, and beliefs concerning children with a febrile illness, with an emphasis on the referring physician. METHODS: This was a cross-sectional study of 100 caregivers of children 3 months to 12 years old, treated at an urban tertiary care pediatric emergency department for fever...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28173649/-a-novel-mutation-in-kcnb1-gene-in-a-child-with-neuropsychiatric-comorbidities-with-both-intellectual-disability-and-epilepsy-and-review-of-literature
#8
P Miao, J Peng, C Chen, N Gai, F Yin
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM)...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28167358/evaluation-of-pharmacists-knowledge-of-women-s-issues-in-epilepsy-a-cross-sectional-study-in-palestinian-pharmacy-practice
#9
Ramzi Shawahna, Ahlam Atrash, Aman Jebril, Areen Khalaf, Eman Shaheen, Hala Tahboosh
PURPOSE: Pharmacists are key players in providing healthcare for patients with chronic diseases including women with epilepsy. The purpose of this study was to assess pharmacist's knowledge of women's issues in epilepsy in the Palestinian pharmacy practice. METHOD: The study was conducted in a cross-sectional observational design using a 12-item test on women's health in epilepsy. Demographic details were collected. Scores were calculated as percentage of correct answers for each pharmacist...
January 19, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28163531/alternating-hemiplegia-of-childhood-in-a-child-misdiagnosed-as-intractable-epilepsy
#10
Faruk Incecık, Ozlem M Herguner
No abstract text is available yet for this article.
December 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28141740/preventing-cognitive-impairment-in-children-with-epilepsy
#11
Kees P J Braun
PURPOSE OF REVIEW: Cognitive impairments are common in children with epilepsy. They may already be present before the onset of epilepsy or occur - and even progress - during its course. Many variables contribute to cognitive dysfunction. Those that can be targeted to prevent (further) cognitive impairment will be highlighted in this review. RECENT FINDINGS: Ideally, but not yet realistically, epileptogenesis is prevented to avert seizures and cognitive impairments in high-risk patients...
January 30, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28141706/attached-to-a-diagnosis-the-quandary-of-social-deficits-and-reactive-attachment-disorder
#12
Randall Phelps, Debra Eisert, Susan Schulz, Marilyn Augustyn
Alex is a 9-year-old boy brought to you, his primary care provider, for a "fifth opinion." You have cared for Alex since he was adopted from a Romanian orphanage at 3 years of age. He has been physically healthy with normal growth parameters and no evidence of fetal alcohol syndrome. Alex has long-standing history of social difficulties, impulsivity, lying, controlling, manipulative behaviors, violent outbursts at home with subsequent lack of remorse, and excessive chatter. You referred Alex to an interdisciplinary child development clinic 2 years ago, where he was diagnosed with reactive attachment disorder (RAD) and attention deficit hyperactivity disorder (ADHD)...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28131559/pyridoxine-dependent-epilepsy-a-novel-mutation-in-a-tunisian-child
#13
T Ben Younes, I Kraoua, H Benrhouma, F Nasrallah, N Ben Achour, H Klaa, A Hassen-Rouissi, C Drissi, J-F Benoist, I Ben Youssef-Turki
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28126851/functional-evaluation-of-a-de-novo-grin2a-mutation-identified-in-a-patient-with-profound-global-developmental-delay-and-refractory-epilepsy
#14
Wenjuan Chen, Anel Tankovic, Pieter B Burger, Hirofumi Kusumoto, Stephen F Traynelis, Hongjie Yuan
The N-methyl-D-aspartate receptor (NMDAR), a ligand-gated ionotropic glutamate receptor, plays important roles in normal brain development and a wide range of neurological disorders, including epilepsy. Here, we evaluate for the first time the functional properties of a de novo GRIN2A missense mutation (p.M817V) in the pre-M4 linker in a child with profound global developmental delay and refractory epilepsy. Electrophysiological recordings revealed that the mutant GluN2A(M817V)-containing receptors showed enhanced agonist potency, reduced sensitivity to endogenous negative inhibitors (Mg2+, proton, and zinc), prolonged synaptic-like response time course, increased single channel mean open time, and increased channel open probability...
January 26, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28110175/ketogenic-diet-therapy-for-epilepsy-during-pregnancy-a-case-series
#15
Elles J T M van der Louw, Tanya J Williams, Bobbie J Henry-Barron, Joanne F Olieman, Johannes J Duvekot, Marijn J Vermeulen, Natalja Bannink, Monique Williams, Rinze F Neuteboom, Eric H Kossoff, Coriene E Catsman-Berrevoets, Mackenzie C Cervenka
PURPOSE: Evaluation of ketogenic diet (KD) therapies for seizure control during pregnancy when safety and appropriate management become considerations. Until now, no information has been available on seizure reduction and human pregnancy related outcomes in women treated with KD therapies. METHOD: We describe two cases of pregnant women with epilepsy treated with KD therapy either as monotherapy (Case 1) or as adjunctive therapy (Case 2). RESULTS: Case 1: A 27 year old woman, gravida1, started the classic KD with medium chain triglyceride (MCT) emulsion and 75g carbohydrate-restriction, later reduced to 47g...
December 26, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28103894/impacts-of-caring-for-a-child-with-the-cdkl5-disorder-on-parental-wellbeing-and-family-quality-of-life
#16
Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard
BACKGROUND: Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory epilepsy. METHODS: Data were sourced from the International CDKL5 Disorder Database to which 192 families with a child with a pathogenic CDKL5 mutation had provided data by January 2016...
January 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28100327/-intermittent-convulsions-for-1-5-years-and-psychomotor-retardation-in-a-girl
#17
Li Yang, Yu-Fen Li, Li-Yun Xu, Na Xu, Yu-Zeng Han, Jun-Lin Wang, Ji-Guo Song, Ying Hua, Li-Ping Zhu
The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#18
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#19
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28069620/prenatal-exposure-to-antiepileptic-drugs-and-use-of-primary-healthcare-during-childhood-a-population-based-cohort-study-in-denmark
#20
Anne Mette Würtz, Dorte Rytter, Claus Høstrup Vestergaard, Jakob Christensen, Mogens Vestergaard, Bodil Hammer Bech
OBJECTIVE: Prenatal exposure to antiepileptic drugs (AEDs) has been associated with adverse outcomes in the offspring such as congenital malformations and neuropsychiatric disorders. The objective of this study was to investigate whether prenatal exposure to AEDs is also associated with more frequent use of primary healthcare during childhood. DESIGN: Population-based cohort study. SETTING: Nationwide national registers in Denmark. PARTICIPANTS: All live-born singletons in Denmark during 1997-2012 identified in the Danish National Patient Register and followed until 31 December 2013 (n=963 010)...
January 5, 2017: BMJ Open
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