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https://www.readbyqxmd.com/read/29739092/satb2-associated-syndrome-a-case-report-of-a-de-novo-nonsense-mutation-in-satb2-from-china-and-review-of-literature
#1
Hong-Yan Lv, Rui-Jiang Zheng, Qiu-Li Wang, Peng-Shun Ren, Lin-Hong Jin, Xiu-Ling Gu, Lian-Xiang Li
BACKGROUND: To study the clinical and genetic features from a Chinese child with SATB2-associated syndrome (SAS) and review of literature. METHODS: The girl, 2 years 3 months old, is admitted to the Department of Pediatric Rehabilitation in our hospital. This patient has mental retardation, language development disorder, cleft palate II0, micrognathia, malocclusion, irritability and bilateral oblique palpebral fissure as a clinical manifestation and is treated for 3 months...
April 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29651689/mothers-neural-responses-to-infant-faces-are-associated-with-activation-of-the-maternal-care-system-and-observed-intrusiveness-with-their-own-child
#2
Joyce J Endendijk, Hannah Spencer, Anneloes L van Baar, Peter A Bos
Certain infant facial characteristics, referred to as baby schema, are thought to automatically trigger parenting behavior and affective orientation toward infants. Electroencephalography (EEG) is well suited to assessing the intuitive nature and temporal dynamics of parenting responses, due to its millisecond temporal resolution. Little is known, however, about the relations between neural processing of infant cues and actual parenting behavior in a naturalistic setting. In the present study we examined the event-related potentials (ERPs) of mothers (N = 33) watching infant faces of varying attractiveness, in relation to activation of the maternal care system and the mothers' observed parenting behavior (sensitivity, nonintrusiveness) with their own child (2-6 years old)...
April 12, 2018: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/29602053/eeg-findings-and-outcomes-of-continuous-video-eeg-monitoring-started-prior-to-initiation-of-seizure-treatment-in-the-perinatal-stroke
#3
José R Castro Conde, Itziar Quintero Fuentes, Candelaria González Campo, Alejandro Jiménez Sosa, Beatriz Reyes Millán, Sergio Hernández Expósito
BACKGROUND: To analyze the findings in the background EEG activity of infants who suffered perinatal stroke. METHODS: Eleven neonates born 2009-2014 diagnosed of ischemic stroke by MRI (three of them with multistroke) underwent continuous video-EEG monitoring. Visual and spectral (power spectrum and coherence) analyses of the background EEG was performed in three moments: 1) Onset of EEG recording (prior to initiate seizure treatment), 2) Post-ictal epoch (1-2 h after the last seizure), and 3) one-two days after seizure control...
March 27, 2018: Early Human Development
https://www.readbyqxmd.com/read/29588956/high-frequency-oscillations-detected-in-ecog-recordings-correlate-with-cavernous-malformation-and-seizure-free-outcome-in-a-child-with-focal-epilepsy-a-case-report
#4
Su Liu, Michael M Quach, Daniel J Curry, Monika Ummat, Elaine Seto, Nuri F Ince
Epilepsy associated with cavernous malformation (CM) often requires surgical resection of seizure focus to achieve seizure-free outcome. High-frequency oscillations (HFOs) in intracranial electroencephalogram (EEG) are reported as potential biomarkers of epileptogenic regions, but to our knowledge there are no data on the existence of HFOs in CM-caused epilepsy. Here we report our experience of the identification of the seizure focus in a 3-year-old pediatric patient with intractable epilepsy associated with CM...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29553534/online-transcranial-magnetic-stimulation-protocol-for-measuring-cortical-physiology-associated-with-response-inhibition
#5
Michael D Guthrie, Donald L Gilbert, David A Huddleston, Ernest V Pedapati, Paul S Horn, Stewart H Mostofsky, Steve W Wu
We describe the development of a reproducible, child-friendly motor response inhibition task suitable for online Transcranial Magnetic Stimulation (TMS) characterization of primary motor cortex (M1) excitability and inhibition. Motor response inhibition prevents unwanted actions and is abnormal in several neuropsychiatric conditions. TMS is a non-invasive technology that can quantify M1 excitability and inhibition using single- and paired-pulse protocols and can be precisely timed to study cortical physiology with high temporal resolution...
February 8, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29529558/chd2-epilepsy-polygraphic-documentation-of-self-induced-seizures-due-to-fixation-off-sensitivity
#6
Davide Caputo, Marina Trivisano, Federico Vigevano, Lucia Fusco
CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures...
April 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29442411/a-multiprofessional-approach-to-teaching-child-neurology-in-africa-a-powerful-project-for-local-needs-and-the-avoidance-of-brain-drain
#7
EDITORIAL
W Grisold
No abstract text is available yet for this article.
May 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29432237/hypoxic-ischemic-encephalopathy-and-other-neonatal-encephalopathies
#8
Hannah C Glass
PURPOSE OF REVIEW: Neonatal encephalopathy is the most common condition in neonates encountered by child neurologists. The etiology is most often global hypoxia-ischemia due to failure of cerebral perfusion to the fetus caused by uterine, placental, or umbilical cord compromise prior to or during delivery. Other etiologies of neonatal encephalopathy include ischemic stroke and intracranial hemorrhage, infection, developmental anomalies, and inborn errors of metabolism. RECENT FINDINGS: Therapeutic hypothermia is standard of care for the treatment of neonatal encephalopathy presumed to be caused by hypoxia-ischemia...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29414550/clinical-aspects-neuroimaging-and-electroencephalography-of-35-cases-of-hemiconvulsion-hemiplegia-syndrome
#9
Mohamed Albakaye, Halima Belaïdi, Fatiha Lahjouji, Leila Errguig, Callixte Kuate, Youssoufa Maiga, Seybou Hassane Diallo, Najib Kissani, Reda Ouazzani
INTRODUCTION: The hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare consequence of febrile seizures during childhood. It is characterized by the presence of prolonged unilateral clonic seizures occurring during febrile illness in a child less than 4years of age. Then, a flaccid unilateral hemiplegia with variable duration occurs. OBJECTIVES: The objective of the study was to describe the clinical, electroencephalogram (EEG), and neuroimaging treatment and outcome of series of cases of HHE syndrome followed for 10years in our clinical neurophysiology department of the specialty hospital of Rabat...
March 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29203503/multicentre-prospective-randomised-single-blind-controlled-study-protocol-of-the-effect-of-an-additional-parent-administered-sensorimotor-stimulation-on-neurological-development-of-preterm-infants-primebrain
#10
Karine Pelc, Irit Daniel, Bernard Wenderickx, Bernard Dan
INTRODUCTION: Preterm and very low birthweight infants are at increased risk for neurodevelopmental disorders, including cerebral palsy, sensory impairment and intellectual disability. Several early intervention approaches have been designed in the hope of optimising neurological development in this context. It seems important that the intervention takes into account parental mental health, focuses on parent-child interactions and lasts sufficiently long. This study aims to evaluate the effects of a stimulation programme administered by parents until 6 months post-term on motor and neurophysiological development of infants born preterm...
December 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/29179102/electroencephalographic-findings-in-anti-n-methyl-d-aspartate-receptor-encephalitis-in-children-a-series-of-12-patients
#11
Mirac Yildirim, Bahadir Konuskan, Dilek Yalnizoglu, Haluk Topaloglu, Ilknur Erol, Banu Anlar
OBJECTIVE: Anti-N-methyl-d-aspartate receptor encephalitis (a-NMDARe) is an acute or subacute encephalopathy where electroencephalogram (EEG) is frequently obtained as part of the workup. Although no diagnostic EEG finding has been described so far, the definition of specific or typical patterns might help to distinguish this group among various encephalopathies of childhood. We examined EEG recordings of our patients with a-NMDARe in order to describe the most frequent findings. METHODS: Clinical and laboratory data and digital EEG recordings of 12 pediatric patients diagnosed with a-NMDARe in two major child neurology centers are evaluated...
January 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29165758/therapeutic-strategy-for-multiple-vsd-combined-with-mvsd-in-infants-and-young-children
#12
Y-B Hu, J-Q Zou, L Wang, G-Y Liu
OBJECTIVE: To investigate the therapeutic strategy for the multiple ventricular septal defects (VSD) combined with a muscular ventricular septal defect (MVSD) in the infants and young children. PATIENTS AND METHODS: We analyzed clinical data of 63 child patients with multiple VSD who received the treatment between January 2009 and April 2013 in our hospital. There were 33 males and 30 females, the patients aged from 6 to 28 (10 ± 6) months and weighed between 5...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29156988/high-definition-transcranial-direct-current-stimulation-in-early-onset-epileptic-encephalopathy-a-case-study
#13
Oded Meiron, Rena Gale, Julia Namestnic, Odeya Bennet-Back, Jonathan David, Nigel Gebodh, Devin Adair, Zeinab Esmaeilpour, Marom Bikson
PRIMARY OBJECTIVE: Early onset epileptic encephalopathy is characterized by high daily seizure-frequency, multifocal epileptic discharges, severe psychomotor retardation, and death at infancy. Currently, there are no effective treatments to alleviate seizure frequency and high-voltage epileptic discharges in these catastrophic epilepsy cases. The current study examined the safety and feasibility of High-Definition transcranial direct current stimulation (HD-tDCS) in reducing epileptiform activity in a 30-month-old child suffering from early onset epileptic encephalopathy...
2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29153996/clinical-presentation-of-anti-n-methyl-d-aspartate-receptor-and-anti-voltage-gated-potassium-channel-complex-antibodies-in-children-a-series-of-24-cases
#14
Bahadir Konuskan, Mirac Yildirim, Haluk Topaloglu, Ilknur Erol, Ulkuhan Oztoprak, Huseyin Tan, Rahsan Gocmen, Banu Anlar
OBJECTIVE: The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features...
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29130493/trajectories-of-resting-frontal-brain-activity-and-psychopathology-in-female-adolescents-exposed-to-child-maltreatment
#15
Alva Tang, Vladimir Miskovic, Ayelet Lahat, Masako Tanaka, Harriet MacMillan, Ryan J Van Lieshout, Louis A Schmidt
Resting frontal electroencephalogram (EEG) alpha asymmetry patterns reflecting different affective and motivational tendencies have been proposed as a putative mechanism underlying resilience among maltreated youth. This 2-year prospective study examined whether developmental stability of resting frontal alpha asymmetry moderated the relation between child maltreatment severity and psychopathology in female adolescents (n = 43; ages 12-16) recruited from child protection agencies. Results identified two trajectories of resting frontal asymmetry: 60...
January 2018: Developmental Psychobiology
https://www.readbyqxmd.com/read/29111113/understanding-the-relationship-between-brain-and-upper-limb-function-in-children-with-unilateral-motor-impairments-a-multimodal-approach
#16
Maya Weinstein, Dido Green, Julian Rudisch, Ingar M Zielinski, Marta Benthem-Muñiz, Marijtje L A Jongsma, Verity McClelland, Bert Steenbergen, Shelly Shiran, Dafna Ben Bashat, Gareth J Barker
Atypical brain development and early brain injury have profound and long lasting impact on the development, skill acquisition, and subsequent independence of a child. Heterogeneity is present at the brain level and at the motor level; particularly with respect to phenomena of bilateral activation and mirrored movements (MMs). In this multiple case study we consider the feasibility of using several modalities to explore the relationship between brain structure and/or activity and hand function: Electroencephalography (EEG), both structural and functional Magnetic Resonance Imaging (sMRI, fMRI), diffusion tensor imaging (DTI), transcranial magnetic stimulation (TMS), Electromyography (EMG) and hand function assessments...
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29099542/chloral-hydrate-as-a-sedating-agent-for-neurodiagnostic-procedures-in-children
#17
REVIEW
Choong Yi Fong, Chee Geap Tay, Lai Choo Ong, Nai Ming Lai
BACKGROUND: Paediatric neurodiagnostic investigations, including brain neuroimaging and electroencephalography (EEG), play an important role in the assessment of neurodevelopmental disorders. The use of an appropriate sedative agent is important to ensure the successful completion of the neurodiagnostic procedures, particularly in children, who are usually unable to remain still throughout the procedure. OBJECTIVES: To assess the effectiveness and adverse effects of chloral hydrate as a sedative agent for non-invasive neurodiagnostic procedures in children...
November 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29070031/17q23-2q23-3-de-novo-duplication-in-association-with-speech-and-language-disorder-learning-difficulties-incoordination-motor-skill-impairment-and-behavioral-disturbances-a-case-report
#18
Karen Wessel, Jehan Suleiman, Tamam E Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W El-Hattab
BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23...
October 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28986982/eeg-for-children-with-complex-febrile-seizures
#19
REVIEW
Pankaj B Shah, Saji James, S Elayaraja
BACKGROUND: Febrile seizures can be classified as simple or complex. Complex febrile seizures are associated with fever that lasts longer than 15 minutes, occur more than once within 24 hours, and are confined to one side of the child's body. It is common in some countries for doctors to recommend an electroencephalograph (EEG) for children with complex febrile seizures. A limited evidence base is available to support the use of EEG and its timing after complex febrile seizures among children...
October 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28982711/sudden-death-after-febrile-seizure-case-report-cerebral-suppression-precedes-severe-bradycardia
#20
Kenneth A Myers, Robyn E McPherson, Robin Clegg, Jeffrey Buchhalter
A 20-month-old girl with a complex chromosomal disorder had first presentation of febrile status epilepticus and was admitted to the hospital. Two days after her initial seizure, she died suddenly and unexpectedly during a video EEG monitoring study. An advanced analysis of the physiologic changes in the hours and minutes leading up to death was undertaken. The electrocardiography over the last 19 minutes of life was reviewed, and the R-R intervals were manually measured. Heart rate variability was assessed through calculation of the SD of the R-R intervals and the root mean square of successive differences over successive 100 beat periods...
November 2017: Pediatrics
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