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https://www.readbyqxmd.com/read/28320473/which-neural-mechanisms-mediate-the-effects-of-a-parenting-intervention-program-on-parenting-behavior-design-of-a-randomized-controlled-trial
#1
Laura Kolijn, Saskia Euser, Bianca G van den Bulk, Renske Huffmeijer, Marinus H van IJzendoorn, Marian J Bakermans-Kranenburg
BACKGROUND: The Video-feedback Intervention to promote Positive Parenting and Sensitive Discipline (VIPP-SD) has proven effective in increasing parental sensitivity. However, the mechanisms involved are largely unknown. In a randomized controlled trial we examine parental neurocognitive factors that may mediate the intervention effects on parenting behavior. Our aims are to (1) examine whether the intervention influences parents' neural processing of children's emotional expressions and the neural precursors of response inhibition and to (2) test whether neural changes mediate intervention effects on parenting behavior...
March 21, 2017: BMC Psychology
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#2
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/28298482/movement-disorder-associated-with-foreign-body-ingestion
#3
Olugbenga Akingbola, Dinesh Singh, Uwe Blecker
We present a case of recurrent bouts of irritability with arching, head extension, and lethargy in a previously healthy 10-month-old girl admitted to the PICU for acute onset of a movement disorder. The patient's vital signs and physical examination were unremarkable but recurrent bouts of abnormal movements persisted for the first 10 hours of admission in the PICU. Possible diagnoses, such as meningitis, status epilepticus, space occupying lesions, and toxic ingestions, were ruled out because of negative cerebrospinal fluid analysis, normal EEG, and negative results of other ancillary tests...
March 15, 2017: Pediatrics
https://www.readbyqxmd.com/read/28295228/cognitive-network-reorganization-following-surgical-control-of-seizures-in-lennox-gastaut-syndrome
#4
Aaron E L Warren, A Simon Harvey, David F Abbott, Simon J Vogrin, Catherine Bailey, Andrew Davidson, Graeme D Jackson, John S Archer
We previously observed that adults with Lennox-Gastaut syndrome (LGS) show abnormal functional connectivity among cognitive networks, suggesting that this may contribute to impaired cognition. Herein we report network reorganization following seizure remission in a child with LGS who underwent functional magnetic resonance imaging (fMRI) before and after resection of a cortical dysplasia. Concurrent electroencephalography (EEG) was acquired during presurgical fMRI. Presurgical and postsurgical functional connectivity were compared using (1) graph theoretical analyses of small-world network organization and node-wise strength; and (2) seed-based analyses of connectivity within and between five functional networks...
March 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#5
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28287069/ictus-emeticus-presenting-as-an-unusual-seizure-type-in-chromosome-22q11-2-deletion-syndrome
#6
Pi-Lien Hung, Li-Tung Huang, Shang-Yeong Kwan, Kai-Ping Chang, Hsin-Hung Chen, Yi-Yen Lee, Hueng-Chuen Fan, Chien Chen
We present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic-clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video-EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28275972/dihydropyrimidine-dehydrogenase-deficiency-metabolic-disease-or-biochemical-phenotype
#7
M Fleger, J Willomitzer, R Meinsma, M Alders, J Meijer, R C M Hennekam, M Huemer, A B P van Kuilenburg
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine metabolism that impairs the first step of uracil und thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities.We report on a boy with intellectual disability, significant impairment of speech development, highly active epileptiform discharges on EEG, microcephaly and impaired gross-motor development...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28268293/high-resolution-eeg-source-imaging-of-one-year-old-children
#8
Zeynep Akalin Acar, Silvia Ortiz-Mantilla, April Benasich, Scott Makeig
Recently we described an iterative skull conductivity and source location estimation (SCALE) algorithm for simultaneously estimating head tissue conductivities and brain source locations. SCALE uses a realistic FEM forward problem head model and scalp maps of 10 or more near-dipolar sources identified by independent component analysis (ICA) decomposition of sufficient high-density EEG data. In this study, we applied SCALE to 20 minutes of 64-channel EEG data and magnetic resonance (MR) head images from four twelve-months-of-age infants...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28244271/parent-delivered-early-intervention-in-infants-at-risk-for-asd-effects-on-electrophysiological-and-habituation-measures-of-social-attention
#9
Emily J H Jones, Geraldine Dawson, Jean Kelly, Annette Estes, Sara Jane Webb
Prospective longitudinal studies of infants with older siblings with autism spectrum disorder (ASD) have indicated that differences in the neurocognitive systems underlying social attention may emerge prior to the child meeting ASD diagnostic criteria. Thus, targeting social attention with early intervention might have the potential to alter developmental trajectories for infants at high risk for ASD. Electrophysiological and habituation measures of social attention were collected at 6, 12, and 18 months in a group of high-risk infant siblings of children with ASD (N = 33)...
February 28, 2017: Autism Research: Official Journal of the International Society for Autism Research
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/28226452/high-resolution-eeg-source-imaging-of-one-year-old-children
#11
Zeynep Akalin Acar, Silvia Ortiz-Mantilla, April Benasich, Scott Makeig, Zeynep Akalin Acar, Silvia Ortiz-Mantilla, April Benasich, Scott Makeig, April Benasich, Scott Makeig, Zeynep Akalin Acar, Silvia Ortiz-Mantilla
Recently we described an iterative skull conductivity and source location estimation (SCALE) algorithm for simultaneously estimating head tissue conductivities and brain source locations. SCALE uses a realistic FEM forward problem head model and scalp maps of 10 or more near-dipolar sources identified by independent component analysis (ICA) decomposition of sufficient high-density EEG data. In this study, we applied SCALE to 20 minutes of 64-channel EEG data and magnetic resonance (MR) head images from four twelve-months-of-age infants...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28214777/utility-of-long-term-video-eeg-monitoring-for-children-with-staring
#12
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
#13
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...
March 2017: Pediatrics
https://www.readbyqxmd.com/read/28182669/a-de-novo-loss-of-function-grin2a-mutation-associated-with-childhood-focal-epilepsy-and-acquired-epileptic-aphasia
#14
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/28173650/-clinical-and-genetic-analysis-of-hyperekplexia-in-a-chinese-child-and-literature-review
#15
H Li, Z X Yang, J Xue, P Qian, X Y Liu
Objective: To investigate the clinical and genetic features of a Chinese child with hyperekplexia and review the related literature. Method: The clinical and genetic data of one patient with hyperekplexia, who had visited the department of Pediatrics, Peking University First Hospital in July 2012, were analyzed. "Hyperekplexia" "startle disease" "GLRB" were used as key words to search at CNKI, Wanfang and PubMed from the database from creation to August 2016. Result: The one-year-old female patient showed exaggerated startle reflexes and generalized stiffness in response to external sudden, unexpected stimuli at 2 hours after birth, which existed every day...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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
#16
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/28138807/neurophysiological-processing-of-emotion-in-children-of-mothers-with-a-history-of-depression-the-moderating-role-of-preschool-persistent-irritability
#17
Ellen M Kessel, Autumn Kujawa, Lea R Dougherty, Greg Hajcak, Gabrielle A Carlson, Daniel N Klein
Research on emotion-processing biases in offspring of depressed parents has produced a variety of findings. Child persistent irritability may be a useful clinical feature that demarcates subgroups of offspring with distinct patterns of emotion processing. The present study examined whether early persistent irritability moderated the relationship between maternal lifetime history of a depressive disorder and appetitive- and aversive-emotion processing in 338 never-depressed pre-adolescent children (43.8% female)...
January 31, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28100327/-intermittent-convulsions-for-1-5-years-and-psychomotor-retardation-in-a-girl
#18
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/28018465/ictal-sinus-pause-and-myoclonic-seizure-in-a-child
#19
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27989601/epileptic-spasms-175-years-on-trying-to-teach-an-old-dog-new-tricks
#20
REVIEW
Jo M Wilmshurst, Roland C Ibekwe, Finbar J K O'Callaghan
PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review. RESULTS: Infantile spasms, first described by Dr West in 1841, has undergone extensive investigation to understand the pathogenesis, aetiologies, optimal intervention and most likely prognosis for the affected child. The terminology has recently evolved such that the preferred term for the condition is now "epileptic spasms" in recognition of the fact that cases can present outside infancy...
January 2017: Seizure: the Journal of the British Epilepsy Association
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