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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/28188024/robotic-assisted-gait-training-improves-walking-abilities-in-diplegic-children-with-cerebral-palsy
#1
L Wallard, G Dietrich, Y Kerlirzin, J Bredin
The robotic-assisted gait training therapy (RAGT), based on intensity and repetition of movement, presents beneficial effects on recovery and improvement of postural and locomotor functions of the patient. This study sought to highlight the effect of this RAGT on the dynamic equilibrium control during walking in children with Cerebral Palsy (CP) by analyzing the different postural strategies of the fullbody (upper/lower body) before and after this RAGT in order to generate forward motion while maintaining balance...
February 2, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28188025/vagus-nerve-stimulation-in-children-a-focus-on-intellectual-disability
#2
REVIEW
Jo Sourbron, Sylvia Klinkenberg, Alfons Kessels, Helenius Jurgen Schelhaas, Lieven Lagae, Marian Majoie
INTRODUCTION: Vagus Nerve Stimulation (VNS) can be an efficacious add-on treatment in patients with drug-resistant epilepsy, who are not eligible for surgery. Evidence of VNS efficacy in children with intellectual disability (ID) is scarce. OBJECTIVES: The purpose of this study was to review all available VNS data in the pediatric population (≤18 years old) and focus on the subpopulation with ID since appropriate treatment of these children is often challenging and complex...
January 30, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28189489/sepiapterin-reductase-deficiency-report-of-5-new-cases
#3
Sarah AlSubhi, Saad AlShahwan, Mohamed AlMuhaizae, Hamed AlZaidan, Brahim Tabarki
BACKGROUND: Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism. CASE REPORT: Five new patients from 3 unrelated Saudi consanguineous families are reported. Symptoms began at 6 months, with delay to diagnosis averaging 8 years. All 5 patients presented with severe symptoms including axial hypotonia, dystonia, and cognitive impairment, associated with hyper-reflexia (4 patients), spasticity (4 patients), bulbar dysfunction (4 patients), and oculogyric crisis (2 patients) with diurnal fluctuation and sleep benefit...
January 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28185801/lived-experience-of-having-a-child-with-stroke-a%C3%A2-qualitative-study
#4
Syrine Soufi, Stéphane Chabrier, Laurent Bertoletti, Silvy Laporte, Stéphane Darteyre
OBJECTIVE: To assess the lived experience of parents whose child has suffered a stroke. METHODS: A qualitative study model was chosen, comprising in-depth interviews with parents separately or altogether. A semi-structured interview guide was used. Interviews were audio-recorded, transcribed verbatim and analysed using constant comparison and content analysis. Participant checking was performed. Thirteen families of children aged 1 month to 17 years, having suffered ischaemic or haemorrhagic arterial stroke within one to five years, were recruited...
January 25, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#5
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
January 17, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28109652/epilepsy-in-patients-with-grin2a-alterations-genetics-neurodevelopment-epileptic-phenotype-and-response-to-anticonvulsive-drugs
#6
C von Stülpnagel, M Ensslen, R S Møller, D K Pal, S Masnada, P Veggiotti, E Piazza, M Dreesmann, T Hartlieb, T Herberhold, E Hughes, M Koch, C Kutzer, K Hoertnagel, J Nitanda, M Pohl, K Rostásy, T B Haack, K Stöhr, G Kluger, I Borggraefe
OBJECTIVE: To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment. METHODS: Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG). Clinical findings including epilepsy classification, treatment, EEG findings, early childhood development and neurodevelopmental outcome were collected with an electronic questionnaire...
January 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28109651/late-onset-krabbe-disease-due-to-the-new-galc-p-ala543pro-mutation-with-intriguingly-high-residual-galc-activity-in%C3%A2-vitro
#7
Inge Krägeloh-Mann, Klaus Harzer, Kevin Rostásy, Stefanie Beck-Wödl, Antje Bornemann, Judith Böhringer, Andrea Bevot, Verena Beck, Gisela Merkel, Maria Pechan
BACKGROUND: Krabbe disease (KD) is an inherited leukodystrophy due to a defect in the GALC gene which encodes the lysosomal galactosylceramide β-galactosidase (GALC). About two thirds of patients show the early onset form of KD dominated by cerebral demyelination leading to death in early infancy. Late onset forms include a spectrum of late infantile, juvenile and adult clinical courses. The deficiency of GALC leads to a galactosylceramide lipidosis in which lysosomal storage phenomena are seen almost only at the ultrastructural level...
January 6, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28082014/survey-on-treatments-for-primary-headaches-in-13-specialized-juvenile-headache-centers-the-first-multicenter-italian-study
#8
Irene Toldo, Martina Rattin, Egle Perissinotto, Debora De Carlo, Barbara Bolzonella, Margherita Nosadini, Livia Nicoletta Rossi, Angelo Vecchio, Alessandro Simonati, Marco Carotenuto, Cinzia Scalas, Vittorio Sciruicchio, Vincenzo Raieli, Giovanni Mazzotta, Elisabetta Tozzi, Massimiliano Valeriani, Carlo Cianchetti, Umberto Balottin, Vincenzo Guidetti, Stefano Sartori, Pier Antonio Battistella
AIM: The purpose of this retrospective multicenter study was to evaluate the use and the self-perceived efficacy and tolerability of pharmacological and non-pharmacological treatments in children and adolescents with primary headaches. METHODS: Study of a cohort of children and adolescents diagnosed with primary headache, consecutively referred to 13 juvenile Italian Headache Centers. An ad hoc questionnaire was used for clinical data collection. RESULTS: Among 706 patients with primary headaches included in the study, 637 cases with a single type of headache (migraine 76% - with and without aura in 10% and 67% respectively; tension-type headache 24%) were selected (mean age at clinical interview: 12 years)...
December 31, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28089585/the-impact-of-intelligence-on-memory-and-executive-functions-of-children-with-temporal-lobe-epilepsy-methodological-concerns-with-clinical-relevance
#9
Patricia Rzezak, Catarina A Guimarães, Marilisa M Guerreiro, Kette D Valente
PURPOSE: Patients with TLE are prone to have lower IQ scores than healthy controls. Nevertheless, the impact of IQ differences is not usually considered in studies that compared the cognitive functioning of children with and without epilepsy. This study aimed to determine the effect of using IQ as a covariate on memory and attentional/executive functions of children with TLE. METHODS: Thirty-eight children and adolescents with TLE and 28 healthy controls paired as to age, gender, and sociodemographic factors were evaluated with a comprehensive neuropsychological battery for memory and executive functions...
December 29, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28082013/severe-methemoglobinemia-caused-by-continuous-lidocaine-infusion-in-a-term-neonate
#10
Bettina Bohnhorst, Hans Hartmann, Matthias Lange
Neonates and young infants are especially prone to develop drug-induced methemoglobinemia. Therefore, lidocaine is not licensed as local anesthetic in children below the age of 3 months. However, its systemic use is advocated for neonatal seizures. Cardiac arrhythmia has been reported as sole major side effect. Here we report a case of severe methemoglobinemia caused by continuous infusion of lidocaine in a term neonate with neonatal seizures. The increase of methemoglobin up to 13.8% was accompanied by hypoxemia and cyanosis, necessitating additional inspired oxygen and CPAP ventilation...
December 28, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28034622/sleep-and-executive-functions-in-children-with-adhd
#11
LETTER
Shujiong Mao, Rongwang Yang, Weijia Gao, Rong Li, Zhengyan Zhao
No abstract text is available yet for this article.
December 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28034620/neck-flexor-muscle-strength-and-its-relation-with-functional-performance-in-duchenne-muscular-dystrophy
#12
Sibel Bozgeyik, İpek Alemdaroğlu, Numan Bulut, Öznur Yılmaz, Ayşe Karaduman
AIM: The aim of this study was to investigate the relationship between neck flexor muscle strength and functional performance in children with DMD. METHODS: A total of 70 children with DMD between Level 1 and 3 according to Brooke Lower Extremity Functional Classification (BLEFC) were included in the study. Children were divided into 2 groups according to neck flexor strength measured by Medical Research Council Scale as Group 1 (3⁻ and below) and Group 2 (3 and above)...
December 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28057429/cautious-optimism-for-non-invasive-transcranial-direct-current-neuromodulation-for-perinatal-stroke
#13
EDITORIAL
Martin Smith
No abstract text is available yet for this article.
December 20, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28034623/intracranial-stimulation-for-children-with-epilepsy-early-days
#14
EDITORIAL
Alasdair Parker
No abstract text is available yet for this article.
December 20, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28027855/neuromodulation-for-chronic-pain-and-double-incontinence-in-children
#15
EDITORIAL
Alfred Peter Born
No abstract text is available yet for this article.
December 20, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28039015/longitudinal-follow-up-to-evaluate-speech-disorders-in-early-treated-patients-with-infantile-onset-pompe-disease
#16
Yin-Ting Zeng, Wuh-Liang Hwu, Pao-Chuan Torng, Ni-Chung Lee, Jeng-Yi Shieh, Lu Lu, Yin-Hsiu Chien
BACKGROUND: Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. METHODS: Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28027854/exome-sequencing-in-children-of-women-with-skewed-x-inactivation-identifies-atypical-cases-and-complex-phenotypes
#17
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Andrea Ciolfi, Viviana Caputo, Simone Pizzi, Alessandro Calcia, Eleonora Di Gregorio, Simona Cavalieri, Cecilia Mancini, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Iolanda Borelli, Antonio Amoroso, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco
BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth)...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28041798/early-seizures-predict-the-development-of-epilepsy-in-children-and-adolescents-with-stroke
#18
Ina Breitweg, Celina von Stülpnagel, Tom Pieper, Karen Lidzba, Hans Holthausen, Martin Staudt, Gerhard Kluger
PURPOSE: To identify risk factors for the development of epilepsy after pediatric stroke. METHODS: Retrospective analysis of hospital charts of 93 children and adolescents with post-neonatal non-traumatic stroke and a minimum follow-up of two years. Seizures during the first 48 h after onset of stroke symptoms were defined as "early seizures"; when two or more seizures occurred after this period, the patient was classified as "epileptic". RESULTS: Early seizures, young age at stroke and MRI evidence of cortical involvement were observed more frequently in the children who developed epilepsy...
December 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28017555/a-preliminary-examination-of-self-concept-in-older-adolescents-and-young-adults-with-gilles-de-la-tourette-syndrome
#19
Paola R Silvestri, Flavia Chiarotti, Valentina Baglioni, Valeria Neri, Francesco Cardona, Andrea E Cavanna
INTRODUCTION: Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterised by multiple tics and often associated with behavioural problems. Although there is evidence of significantly reduced self-esteem in children and adolescents with GTS, little is known about perceived self-concept and its clinical determinants at the transition age between adolescence and adulthood. We therefore set out to investigate self-concept in a clinical sample of young patients with GTS at this crucial age for personal development...
December 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28012699/fear-of-fear-severe-tics-and-deep-brain-stimulation-in-childhood-tourette-syndrome-the-long-and-winding-road
#20
EDITORIAL
Tammy Hedderly
No abstract text is available yet for this article.
December 8, 2016: European Journal of Paediatric Neurology: EJPN
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