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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/28274546/long-term-outcome-of-patients-with-x-linked-adrenoleukodystrophy-a-retrospective-cohort-study
#1
Christel Tran, Jaina Patel, Hewson Stacy, Eva G Mamak, Hanna Faghfoury, Julian Raiman, Joe T R Clarke, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. METHOD: All patients with X-ALD diagnosed between 1989 and 2012 were included. Electronic patient charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, neuroimaging, long-term outcome and treatment...
February 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28283371/chiari-like-displacement-due-to-spontaneous-intracranial-hypotension-in-an-adolescent-successful-treatment-by-epidural-blood-patch
#2
Jan Schönberger, Markus Möhlenbruch, Angelika Seitz, Cornelia Bußmann, Heidi Bächli, Stefan Kölker
BACKGROUND: Spontaneous intracranial hypotension is a rarely diagnosed cause of headache, especially in children and adolescents. It is due to cerebrospinal fluid (CSF) leakage via spinal fistulae occurring without major trauma. CASE PRESENTATION: An adolescent patient presented with a 3-month history of strictly postural headache. Cranial magnetic resonance imaging (MRI) showed pronounced Chiari-like prolapse of the cerebellar tonsils, narrow ventricles and enlarged cerebral veins...
February 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28259452/effects-of-functional-level-on-balance-in-children-with-duchenne-muscular-dystrophy
#3
Halil Alkan, Akmer Mutlu, Tüzün Fırat, Numan Bulut, Aynur Ayşe Karaduman, Öznur Tunca Yılmaz
INTRODUCTION: This study was planned to compare the static and dynamic balance in children with Duchenne Muscular Dystrophy (DMD) at different functional levels with each other and with healthy peers. MATERIAL AND METHODS: Sixty nine children between the ages of 6 and 11 were included in this study where 52 of them were diagnosed with DMD in Level I (18 patients), Level II (17 patients), and Level III (17 patients) according to Brooke Functional Classification Scale and 17 of them healthy peers were included...
February 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28238621/psychiatric-and-behavioral-side-effects-of-anti-epileptic-drugs-in-adolescents-and-children-with-epilepsy
#4
B Chen, K Detyniecki, H Choi, L Hirsch, A Katz, A Legge, R Wong, A Jiang, R Buchsbaum, P Farooque
PURPOSE: The objective of the study was to compare the psychiatric and behavioral side effect (PBSE) profiles of both older and newer antiepileptic drugs (AEDs) in children and adolescent patients with epilepsy. METHOD: We used logistic regression analysis to test the correlation between 83 non-AED/patient related potential predictor variables and the rate of PBSE. We then compared for each AED the rate of PBSEs and the rate of PBSEs that led to intolerability (IPBSE) while controlling for non-AED predictors of PBSEs...
February 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28238620/coexistence-of-childhood-absence-epilepsy-and-benign-epilepsy-with-centrotemporal-spikes-a-case-series
#5
Alberto Verrotti, Sara Casciato, Alberto Spalice, Marco Carotenuto, Pasquale Striano, Pasquale Parisi, Nelia Zamponi, Salvatore Savasta, Victoria Elisa Rinaldi, Renato D'Alonzo, Federico Mecarini, Anthony J Ritaccio, Giancarlo Di Gennaro
AIM: Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BECTS) are the most common forms of childhood epilepsy. Recent studies in animal models suggest that the two phenotypes may represent a neurobiological continuum. Although the coexistence of CAE and BECTS has been reported, this issue remains controversial. The purpose of this study was to analyse the electro-clinical characteristics of a group of children with contemporary or subsequent features of absence seizures and focal seizures consistent with BECTS...
February 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28237419/acute-flaccid-weakness-associated-with-enterovirus-d68
#6
LETTER
Jelte Helfferich, Linda C Meiners, Oebele F Brouwer
No abstract text is available yet for this article.
February 13, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28284887/downbeat-nystagmus-due-to-ranitidine-in-a%C3%A2-pediatric-patient
#7
Laura Butragueño Laiseca, Blanca Toledo Del Castillo, Cristina Rodríguez Jimenez, Silvia Manrique-Rodríguez, Jimena Pérez Moreno
BACKGROUND: Ranitidine has not been considered as a potential cause of ocular movement conditions. However, it is known that the vestibular nucleus complex, that has a key role in gaze control and vestibule-ocular reflexes, receives hypothalamic histaminergic innervations. Some studies reported the effect of ranitidine blocking the excitatory responses of vestibular nuclei neurons to histamine. CASE REPORT: We report the first case of a downbeat nystagmus secondary to ranitidine in an infant...
February 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28237420/long-term-therapy-with-intrathecal-baclofen-improves-quality-of-life-in-children-with-severe-spastic-cerebral-palsy
#8
Tanja Kraus, Kathrin Gegenleitner, Martin Svehlik, Michael Novak, Gerhardt Steinwender, Georg Singer
INTRODUCTION: Children with severe spastic cerebral palsy (CP) are highly limited in daily life activities causing a reduced quality of life (QoL). This is partly due to an increased muscle tone causing pain and contractures. Continuous intrathecal infusion of baclofen (ITB) reduces the spasticity of affected patients. The hypothesis of the present study was that ITB leads to a significant improvement of QoL in non-ambulant children with CP. PATIENTS AND METHODS: 13 patients (10 male, 3 female, mean age 14 years) were included...
February 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#9
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
February 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28188024/robotic-assisted-gait-training-improves-walking-abilities-in-diplegic-children-with-cerebral-palsy
#10
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/28237421/theory-of-mind-emotional-and-social-functioning-and-motor-severity-in-children-and-adolescents-with-dystonic-cerebral-palsy
#11
Dolapo Adegboye, Annette Sterr, Jean-Pierre Lin, Tamsin J Owen
AIMS: This cross-sectional study aimed to investigate whether children and adolescents with dystonic cerebral palsy (CP) present with emotional and social difficulties along side motor limitations. PARTICIPANTS/MEASURES: Twenty-two verbal and nonverbal children and adolescents with dystonic CP were compared with a normative sample of twenty children and adolescents on measures of theory of mind (ToM), emotion regulation (ER), and social difficulties (SD). RESULTS: Higher social and emotional difficulties were found in the dystonic CP group compared to the control group...
January 31, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28188025/vagus-nerve-stimulation-in-children-a-focus-on-intellectual-disability
#12
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
#13
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
#14
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
#15
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
#16
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/28284888/characteristics-of-sleep-in-socially-vulnerable-adolescents
#17
Lisie Polita Romanzini, Aline Ávila Dos Santos, Magda Lahorgue Nunes
IMPORTANCE: This study may help understand the effects of an unfavorable environment in sleep quality of adolescents. OBJECTIVE: To investigate sleep quality in socially vulnerable adolescents, correlating the results with cognitive problems and attention deficit/hyperactivity disorder, and assessing the effectiveness of sleep hygiene and an educational intervention. DESIGN: Cross-sectional and interventional study. SETTING: an educational charitable center supported by a Catholic institution, in Porto Alegre, southern Brazil...
January 6, 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
#18
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
#19
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
#20
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
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