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Autoimmune encephalitis in Israeli children – A retrospective nationwide study Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-15 Nimrod Sachs, Efrat Zohar-Dayan, Bruria Ben Zeev, Tal Gilboa, Mohammad Kurd, Itay Tokatly Latzer, Hadas Meirson, Irit Krause, Yotam Dizitzer, Esther Ganelin Cohen
Immune-mediated or autoimmune encephalitis (AE) is a relatively new, rare and elusive form of encephalitis in children. We retrospectively collected seropositive children (0–18 years old) with well characterized antibodies through 3 reference laboratories in Israel. Clinical symptoms, MRI and EEG findings and treatment courses were described. A total of 16 patients were included in the study, with
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Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-09 Lucia Laugwitz, Daphne H. Schoenmakers, Laura A. Adang, Stefanie Beck-Woedl, Caroline Bergner, Geneviève Bernard, Annette Bley, Audrey Boyer, Valeria Calbi, Hanka Dekker, Florian Eichler, Erik Eklund, Francesca Fumagalli, Francesco Gavazzi, Sabine W. Grønborg, Peter van Hasselt, Mirjam Langeveld, Caroline Lindemans, Fanny Mochel, Andreas Oberg, Dipak Ram, Elise Saunier-Vivar, Ludger Schöls, Michael
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically. Newborn screening
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Association between vitamin B12 deficiency and risk of Paediatric narcolepsy: Evidence from cross-sectional study and Mendelian randomization analysis Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-07 Chaofan Geng, Leilei Tan, Bo Zhao, Chen Chen
Narcolepsy, a chronic neurologic sleep disorder, has sparked growing interest in the potential role of vitamin B12 in its pathogenic mechanism. However, research on this association has predominantly focused on adults. Our objective was to delineate the phenotypic and genetic connections between serum vitamin B12 levels and paediatric narcolepsy. To investigate the causal relationship between vitamin
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Adolescents with Rett syndrome at critical care pathway junctures: Examining clinicians’ decision to initiate invasive long-term ventilation Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-06 Mary Brigid Quirke, Denise Alexander, Lorna Cassidy, Cathal Walsh, Kate Masterson, Katie Hill, Maria Brenner
The initiation of invasive long-term ventilation (I-LTV) for an adolescent with Rett Syndrome (RTT) involves many serious bioethical considerations. In moving towards a more inclusive model of patient participation, transparency surrounding the main influencing factors around this decision is important. We aimed to identify the main drivers influencing a clinician's decision to support initiation of
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Phase IV PROVE study: Perampanel in real-world clinical care of pediatric patients with epilepsy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-05 Katherine Moretz, James Wheles, Cesar Santos, Eric Segal, Marcelo Lancman, Anna Patten, Manoj Malhotra
The non-interventional Phase IV PROVE study (NCT03208660) assessed retention, efficacy, safety and tolerability, and perampanel dosing in patients with epilepsy during routine clinical care. This analysis evaluated final data from patients aged <4 years and 4 to <12 years. Data were obtained retrospectively from medical/pharmacy records of patients in the United States initiating perampanel after January
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Vaccination proposal for patients on onasemnogene abeparvovec therapy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-01 Sarolta Dobner, Andrea Kulcsár, Zoltán Liptai, Zsuzsanna Vojnisek, Tamás Constantin, Léna Szabó
The approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide
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On punctate white matter lesions in preterm infants: Is ultrasound diagnosis feasible? Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-01 Philippe Quétin, Nicolas Leboucq, Charlotte Boyer, Françoise Crozier, Philippe Delachartre, Marilyne Grinand, Philippe Masson, Olivier Claris
To observe hyperechoic nodular or punctate white matter lesions (HNPL) in a population of preterm infants using routine cranial ultrasound (cUS), to describe the characteristics of HNPL, and to compare them with punctate white matter lesions (PWML) detected in magnetic resonance imaging (MRI). Retrospective observational single-center cohort study. Level 2B neonatal unit in France. 307 infants born
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Botulinum neurotoxin type A responders among children with spastic cerebral palsy: Pattern-specific effects Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-01 E. Papageorgiou, N. Peeters, L. Staut, G. Molenaers, E. Ortibus, A. Van Campenhout, K. Desloovere
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Moving across disorders: A cross-sectional study of cognition in early onset ataxia and dystonia Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-03-01 Maraike A. Coenen, Deborah Sival, Rick Brandsma, Hendriekje Eggink, Marieke E. Timmerman, Marina A. Tijssen, Jacoba M. Spikman
Early onset ataxia (EOA) and Early Onset Dystonia (EOD) are movement disorders developing in young people (age <25 per definition). These disorders result from dysfunctional networks involving the cerebellum and basal ganglia. As these structures are also important for cognition, cognitive deficits can be expected in EOA and EOD. EOA and EOD sometimes co-occur, but in those cases the predominant phenotype
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Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-27 Sam Amin, Finbar O'Callaghan
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Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-26 Gabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, Apolline Imbard, Clément Pontoizeau, Marie Thérèse Dangles, Mélodie Aubart, Jean-Baptiste Arnoux, Diane Margoses, Anaïs Brassier, Clothilde Marbach, Claire-Marine Bérat, Eugénie Sarda, Cyril Gitiaux, Pascale de Lonlay, Nathalie Boddaert, Manuel Schiff, Isabelle Desguerre
Water-soluble vitamins play an essential coenzyme role in the nervous system. Acquired vitamin deficiencies are easily treatable, however, without treatment, they can lead to irreversible complications. This study aimed to provide clinical, laboratory parameters and neuroimaging data on vitamin deficiencies in an attempt to facilitate early diagnosis and prompt supplementation. From July 1998 to July
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Be aware of childhood stroke: Proceedings from EPNS Webinar Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-23 Gabriela Oesch, Robin Münger, Maja Steinlin
Childhood arterial ischaemic stroke (AIS) is a significant health concern with increasing incidence. This review aims to provide an overview of the current understanding of childhood AIS.
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On the way to early diagnosis Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-22 Martin Magner
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Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-20 Piero Pavone, Raffaele Falsaperla
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The promise of personalized medicine in pediatric epilepsy – The time has come Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-20 Phillip L. Pearl
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Editorial commentary on “myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital” Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-19 Thomas Sejersen
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Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-15 Yılmaz Yıldız, Didem Ardıçlı, Rahşan Göçmen, Dilek Yalnızoğlu, Meral Topçu, Turgay Coşkun, Ayşegül Tokatlı, Göknur Haliloğlu
To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings. We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed
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Neurological outcomes and mortality after neonatal seizures with electroencephalographical verification. A systematic review Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-12 Hanna Westergren, Mikael Finder, Helena Marell-Hesla, Ronny Wickström
To conduct a systematic review of post-neonatal neurological outcomes and mortality following neonatal seizures with electroencephalographical verification. The databases Medline, Embase and Web of Science were searched for eligible studies. All abstracts were screened in a blinded fashion between research team members and reports found eligible were obtained and screened in full text by two members
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Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-12 Shital Patel, Kayli Maney, Lauren Morris, Maria T. Papadopoulou, Lyndsey Prange, April Boggs, Arsen Hunanyan, Andrey Megvinov, Rosaria Vavassori, Eleni Panagiotakaki, Mohamad A. Mikati
Many Alternating hemiplegia of childhood (AHC) patients have received Cannabidiol (CBD) but, to our knowledge, there are no published data available. Test the hypothesis that CBD has favorable effects on AHC spells. Retrospective review of available data of AHC patients who received CBD. Primary analysis: Clinical Global Impression Scale of Improvement (CGI-I) score for response of AHC spells to CBD
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A systematic review of psychosocial interventions for children and young people with epilepsy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-11 Anthony Mercier, Liam Dorris
Epilepsy is a lifelong neurological disorder that has a profound impact on the lives of millions of children and young people throughout the world, and is linked with mental ill-health and a poorer quality of life. Psychosocial interventions have showed promise for children and young people with epilepsy (CYPE), however there is an absence of large-scale RCT's that would add robustness to the evidence
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Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-07 Emilie Everard, Hilde Laeremans, François Boemer, Sandrine Marie, Marie-Françoise Vincent, Joseph P. Dewulf, François-Guillaume Debray, Corinne De Laet, Marie-Cécile Nassogne
Fatty acid oxidation (FAO) disorders are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Acute symptoms arise during prolonged fasting, intercurrent infections, or intense physical activity. Metabolic crises are characterized by alteration of consciousness, hypoglycemic coma, hepatomegaly, cardiomegaly, arrhythmias, rhabdomyolysis, and can lead
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Unmet health care needs over the first 2 years after pediatric traumatic brain injury Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-02-07 Hilde Margrete Dahl, Ingvil Laberg Holthe, Nada Andelic, Marianne Løvstad, Mia C. Myhre
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Longitudinal assessment of brain lesions in children with cerebral palsy and association with motor functioning Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-01-28 Olga Laporta-Hoyos, Simona Fiori, Kerstin Pannek, Alex M. Pagnozzi, Robert S. Ware, Roslyn N. Boyd
Background The semi-quantitative scale of structural brain Magnetic Resonance Imaging (sqMRI) is a valid and reliable measure of brain lesion extent in children with cerebral palsy (CP) >3-years. This system scores lesion burden for each major brain region. The sum of the scores gives a global score ranging from 0 to 48. Purpose To investigate how sqMRI scores changed from infancy to school-age, and
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Neurodevelopmental outcome of neonatal seizures: A longitudinal study Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-01-28 Lugli Licia, Maria Carolina Bariola, Isotta Guidotti, Marisa Pugliese, Maria Federica Roversi, Luca Bedetti, Elisa Della Casa Muttini, Francesca Miselli, Luca Ori, Laura Lucaccioni, Natascia Bertoncelli, Katia Rossi, Sara Crestani, Patrizia Bergonzini, Lorenzo Iughetti, Fabrizio Ferrari, Alberto Berardi
Introduction Neonatal seizures (NS) are the most common neurological emergency in the neonatal period. The International League Against Epilepsy (ILAE) proposed a new classification of NS based on semiology and highlighted the correlation between semiology and aetiology. However, neurodevelopmental outcomes have not been comprehensively evaluated based on this new classification. Aims To evaluate neurodevelopmental
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Validation of the 2023 international diagnostic criteria for MOGAD in a pediatric cohort Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-01-23 Mohammad Kurd, Li-tal Pratt, Tal Gilboa, Aviva Fattal-valevski, Adi Vaknin-Dembinsky, Avi Gadoth, Yael Hacohen, Hadas Meirson
Objective To validate the recently published diagnostic criteria for Myelin Oligodendrocyte Glycoprotein-antibody associated disease (MOGAD) in real-world cohort of children with acquired demyelinating syndromes. Methods Patients <18yrs presenting with demyelinating disease to Pediatric neuroimmunology clinics at two Israeli tertiary centers who had MOG antibodies (MOG-Abs) tested between 01/07/2017
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Clinical outcomes and Anti-MOG antibodies in pediatric optic neuritis: A prospective observational study Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-01-17 Abhirami Nair, Naveen Sankhyan, Jaspreet Sukhija, Arushi Gahlot Saini, Sameer Vyas, Renu Suthar, Jitendra Kumar Sahu, Amit Rawat
Objectives The objective of this study was to look at the clinical outcomes, and to determine the proportion of children with visual recovery after the first demyelinating event of optic neuritis (ON). Methodology In this observational study, children with the first clinical event of optic neuritis at an age less than 18 years were evaluated. High-contrast visual acuity, colour vision, Expanded Disability
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EPITRANS. Quality assessment of the epilepsy transition process Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-01-12 Z. Ortiz de Zarate, E. Fonseca, L. Abraira, E. Santamarina, D. Campos-Fernández, M. Quintana, J. Sánchez, D. Goméz-Andrés, J. Sala, M. Raspall, A. Felipe-Rucián, M. Del Toro, A. Macaya, M. Toledo
To analyze the differences in clinical management during the epilepsy transition process from pediatric to adult care and to determine the quality of life and degree of satisfaction of patients and caregivers during the transition. This is a longitudinal study including patients with epilepsy transferred from pediatric to adult epilepsy care between 2013 and 2017. Patients had a minimum follow-up of
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Incidence, and factors associated with moderate/severe pediatric traumatic brain injury in children aged 5–15 years in western, Mexico Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2024-01-12 Edgar Ricardo Valdivia-Tangarife, Alejandra Morlett-Paredes, Genoveva Rizo-Curiel, Miriam E. Jiménez-Maldonado, José Luis Ruiz-Sandoval, Annette Reyes Barba, Adriana López-Enríquez, Karla Isis Avilés-Martínez, Teresita Villaseñor-Cabrera
Objective The study objectives were to estimate the standardized incidence and evaluate factors associated with moderate/severe pediatric traumatic brain injury (p-TBI) in children aged 5–15 years in Western, Mexico. Methods The study was cross-sectional in design. We estimated the standardized incidence of moderate/severe p-TBI using the direct methods of the World Health Organization (WHO) standard
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Visual outcome measures in pediatric myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-30 Flavia C. Gericke, James V.M. Hanson, Annette Hackenberg, Christina Gerth-Kahlert
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) comprises various age-dependent clinical phenotypes and may be monophasic, multiphasic, or chronic. Optic neuritis (ON) is a common manifestation and frequently appears in combination with other MOGAD phenotypes, particularly in young children. Despite permanent structural damage to the retinal nerve fiber layer (RNFL), children
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Language outcomes in children who underwent surgery for the removal of a posterior fossa tumor: A systematic review Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-23 Cheyenne Svaldi, Effy Ntemou, Roel Jonkers, Saskia Kohnen, Vânia de Aguiar
Children who underwent posterior fossa tumor removal may have spoken or written language impairments. The present systematic review synthesized the literature regarding the language outcomes in this population. Benefits of this work were the identification of shortcomings in the literature and a starting point toward formulating guidelines for postoperative language assessment. A systematic literature
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Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-10 Julie Thamby, Lyndsey Prange, April Boggs, M. Omar Subei, Cory Myers, Julie Uchitel, Mai ElMallah, Brittnie Bartlett-Lee, James J. Riviello, Mohamad A. Mikati
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Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-06 Sabine Specht, Irina Zhukova, Jens H. Westhoff, Larissa Erb, Andreas Ziegler, Stefan Kölker, Georg F. Hoffmann, Sébastien Hagmann, Steffen Syrbe
We report a non-ambulatory 13-year-old boy with Duchenne muscular dystrophy who experienced severe acute respiratory distress syndrome and cerebral fat embolism following elective soft tissue surgery. Post-surgery radiological examination revealed bilateral femoral fractures and marked osteopenia that were believed to have caused disseminated pulmonary and cerebral fat embolism. The patient had never
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Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-06 Jan Domaradzki, Dariusz Walkowiak
We sought to assesses the impact of caring for children with ultra rare diseases (URDs) on family carers and to analyse the way these experiences differ among the caregivers of children diagnosed through prenatal or newborn screening, and those with symptom-based diagnosis. A total of 200 caregivers of 219 URDs children completed an on-line survey regarding the challenges and experiences of caregivers
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Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-06 Inês Cascais, Cristina Garrido, Lurdes Morais, Rosa Amorim, Rosa Lima, Helena Ferreira Mansilha, Teresa Correia, António Oliveira, Manuela Santos
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms. Thirty-seven patients (59.5 % male) were included, with a median age at the latest
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Neurological presentations of inborn errors of purine and pyrimidine metabolism Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-12-04 Marie-Cécile Nassogne, Sandrine Marie, Joseph P. Dewulf
Purines and pyrimidines are essential components as they are the building blocks of vital molecules, such as nucleic acids, coenzymes, signalling molecules, as well as energy transfer molecules. Purine and pyrimidine metabolism defects are characterised by abnormal concentrations of purines, pyrimidines and/or their metabolites in cells or body fluids. This phenomenon is due to a decreased or an increased
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Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-27 Blandine Dozieres-Puyravel, Hala Nasser, François-Xavier Mauvais, Anne De Saint Martin, Caroline Perriard, Chloé Di Meglio, Claude Cances, Caroline Hachon-LE Camus, Mathieu Milh, Stéphane Auvin
The prognosis of Infantile epileptic spasm syndrome (IESS), relates to the underlying etiology and delay in controlling epileptic spasms. Based on the spasm-free rate, a randomized controlled trial has demonstrated the superiority of combining oral steroids and vigabatrin over oral steroids alone but confirmation in real-life conditions is mandatory. We compared two real-life IESS cohorts: a multicenter
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‘Focal Seizures in Dystonic Cerebral Palsy (DCP): Rare or common or both? Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-22 Jean-Pierre Lin
Abstract not available
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Advances in genetics: The start of a new stage for management of focal cortical malformations Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-20 Dorothée Ville
Abstract not available
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The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-23 Giovanni Baranello, on behalf of the Neurodevelopment in SMA Working Group, Susana Quijano Roy, Laurent Servais, Francina Munell, Mireia Alvarez Molinero, Daniel Natera de Benito, Andres Nascimento, David Gomez-Andres, Laura Costa Comellas, Jessica Exposito, Eduardo F. Tizzano, Inge Cuppen, Ludo Van der Pol, Alberto Aleman, Hanns Lochmuller, Hugh McMillan, Janbernd Kirschner, Cornelia Müller, Maryam
Abstract not available
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Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-22 Karlijn Bouman, Jeroen L.M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G.M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myopathy (SELENON-RM) are rare neuromuscular diseases with respiratory impairment from a young age. Prospective natural history studies are needed for prevalence estimations, respiratory characterization, optimizing clinical care and selecting outcome measures for trial readiness. Our prospective 1.5-year natural history
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From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-22 Matthias De Wachter, An-Sofie Schoonjans, Sarah Weckhuysen, Kristof Van Schil, Ann Löfgren, Marije Meuwissen, Anna Jansen, Berten Ceulemans
The implementation of whole exome sequencing (WES) has had a major impact on the diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic etiology paves the way to precision medicine: an individualized treatment approach, based on the disease pathophysiology. The aim of this retrospective cohort study was to: (1) determine the diagnostic yield of WES in a heterogeneous
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An online survey among general pediatricians on melatonin use in children with chronic insomnia Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-21 Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Although melatonin (MLT) is the molecule most used by pediatricians for sleep problems, scarce evidence exists on its use in healthy pediatric population. The objective of this study was to describe MLT use by Italian pediatricians in healthy children with chronic insomnia. A cross-sectional open survey was administered to Italian pediatricians, between June and November 2022, collecting information
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Translational research for the development of treatment of patients with neurogenetic diseases: an important step for Angelman syndrome Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-17 Bernard Dan
Abstract not available
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Is ketogenic diet a ‘precision medicine’? Recent developments and future challenges Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-15 Raffaele Falsaperla, Vincenzo Sortino, Pasquale Striano, Gerhard Kluger, Georgia Ramantani, Martino Ruggieri, the Network for Therapy in Rare Epilepsies (NETRE)
Recently, precision medicine has attracted much attention in the management of epilepsies, but it remains unclear if the increasingly utilized ketogenic diet approaches can truly be considered precision medicine in all epilepsy treatment. Currently, it is the standard treatment for patients with GLUT1 deficiency and the latest NICE guidelines highlight ketogenic diet as a therapeutic option for multi-drug
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Electrophysiological variability as marker of dystonia worsening under deep brain stimulation successive withdrawal and renewal effects Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-15 Carlos Trenado, Nicole Pedroarena-Leal, Laura Cif, Diane Ruge
DBS has been shown to be an effective intervention for neurological disorders. However, the intervention is complex and many aspects have not been understood. Various clinical situations have no solution and follow trial and error approaches. Dystonia is a movement disorder characterized by involuntary muscle contractions, which gives rise to abnormal movements and postures. Status dystonicus (SD)
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The kynurenine pathway of tryptophan metabolism in abdominal migraine in children – A therapeutic potential? Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-13 Michal Fila, Cezary Chojnacki, Jan Chojnacki, Janusz Blasiak
Abdominal migraine (AM) is a clinical diagnosis specified by Rome IV and ICHD III as a functional gastrointestinal disease (FGID) and a migraine associated syndrome, respectively. Abdominal migraine in childhood and adolescence may continue with migraine headaches in adulthood. This disease is undiagnosed and undertreated, and thus far the FDA has not approved any drug for AM treatment. It was shown
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Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-11-13 Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression and generally poor prognosis. DEE are now known to have an identifiable molecular genetic basis and are usually examined using a gene panel. However, for many patients, the genetic cause has still not been identified. In the last
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Transcranial magnetic stimulation as a feasible, non-invasive, neuromodulatory intervention in fetal alcohol spectrum disorders. A very first proof of concept Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-24 Anja Melder, Esther Wittmann, Lucia Bulubas, Beate Dornheim, Katharina Kerber, Ulrike Vogelmann, Mattia Campana, Jasmin Hubert, Vivien Schmidt, Florian Heinen, Frank Padberg, Mirjam N. Landgraf
Introduction A neurobiological feature of Fetal Alcohol Spectrum Disorder (FASD) is a global decrease in neuronal connectivity, which leads to significant impairments in everyday functionality. Non-invasive repetitive transcranial magnetic stimulation (rTMS) could potentially positively influence neuronal plasticity but has not yet been studied in FASD. The present trial addresses this gap, making
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Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-20 L. Quack, S. Glatter, A. Wegener-Panzer, R. Cleaveland, A. Bertolini, V. Endmayr, R. Seidl, M. Breu, E. Wendel, M. Schimmel, M. Baumann, M. Rauchenzauner, M. Pritsch, N. Boy, T. Muralter, G. Kluger, C. Makoswski, V. Kraus, S. Leiz, C. Loehr-Nilles, K. Rostásy
Background Acute cerebellitis (AC) in children and adolescents is an inflammatory disease of the cerebellum due to viral or bacterial infections but also autoimmune-mediated processes. Objective To investigate the frequency of autoantibodies in serum and CSF as well as the neuroradiological features in children with AC. Material and methods Children presenting with symptoms suggestive of AC defined
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Trajectories of motor function in children with Duchenne muscular dystrophy: A longitudinal study on a Colombian population Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-14 Fernando Ortiz-Corredor, Andres Sandoval-Salcedo, Sandra Castellar-Leones, Diana Soto-Pena, Edicson Ruíz-Ospina, Fernando Suarez-Obando
Duchenne Muscular Dystrophy (DMD) is characterized by an initial increase in motor function followed by a plateau phase and then entering a phase of steady decline. However, motor evolution of DMD have not been evaluated in developing countries. Therefore, this study aims to evaluate the trajectory of motor function in a sample of Colombian children with DMD. We included 119 children with DMD aged
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Long-term motor development after hypothermia-treated hypoxic-ischaemic encephalopathy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-16 Mimmi Eriksson Westblad, Kristina Löwing, Katarina Robertsson Grossmann, Mats Blennow, Katarina Lindström
Aims To describe longitudinal motor development in children treated with therapeutic- hypothermia (TH) due to neonatal hypoxic-ischaemic encephalopathy (HIE) and to explore motor functioning in early adolescence. Material and methods Children treated with TH due to HIE during 2007–2009, in Stockholm, participated in a prospective follow-up study. Motor development was assessed on four occasions, reported
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“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-07 Eden G. Robertson, Natalie J. Roberts, Fleur Le Marne, Erin Beavis, Rebecca Macintosh, Lauren Kelada, Stephanie Best, Ilias Goranitis, Kristine Pierce, Deepak Gill, Rani Sachdev, Ann Bye, Elizabeth E. Palmer
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Genetic testing in children enrolled in epilepsy surgery program. A real-life study Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-05 Barbora Straka, Barbora Splitkova, Marketa Vlckova, Pavel Tesner, Hana Rezacova, Lenka Krskova, Miroslav Koblizek, Martin Kyncl, Alice Maulisova, Katerina Bukacova, Anna Uhrova-Meszarosova, Alena Musilova, Martin Kudr, Matyas Ebel, Anezka Belohlavkova, Alena Jahodova, Petr Liby, Michal Tichy, Petr Jezdik, Josef Zamecnik, Pavel Krsek
Objective Although genetic causes of drug-resistant focal epilepsy and selected focal malformations of cortical development (MCD) have been described, a limited number of studies comprehensively analysed genetic diagnoses in patients undergoing pre-surgical evaluation, their outcomes and the effect of genetic diagnosis on surgical strategy. Methods We analysed a prospective cohort of children enrolled
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Analysis of the relation between cerebrospinal fluid antibody titers and clinical characteristics in pediatric patients with anti-N-methyl-D-aspartate receptor encephalitis Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-10-05 Hua Yang, Haitao Ren, Jingui Zhao, Tao Yu, Qianyun Cai, Rong Luo
Objective This retrospective study aimed to investigate the relationship between cerebrospinal fluid (CSF) antibody titers of N-methyl-d-aspartate receptor (NMDAR), and clinical characteristics in pediatric patients with anti-NMDAR encephalitis. Methods The clinical and laboratory characteristics of hospitalized patients with anti-NMDAR encephalitis, stratified by antibody titers in CSF and disease
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Translation, cross-cultural adaptation and validation of the Rett syndrome motor evaluation scale (RESMES): Spanish version Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-09-28 R.P. Romero-Galisteo, E. Pinero-Pinto, R. Palomo-Carrión, C. Luque-Moreno, G. Molina-Torres, M. González-Sánchez
Objective To develop a Spanish version of the Rett Syndrome Motor Evaluation Scale (RESMES) for the locomotor function of Rett Syndrome (RTT) using a transcultural methodology. Methods The RESMES was cross-culturally adaptated and validated in the Spanish language (RESMES-sp). This study was divided into two well-differentiated phases: 1) a cross-cultural translation and adaptation; 2) psychometric
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The association of serum vitamin D concentrations in paediatric migraine Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-09-16 Evangelia Ioannidou, Charalampos Tsakiris, Dimitrios G. Goulis, Athanasios Christoforidis, Dimitrios Zafeiriou
Introduction Migraine is a neurologic condition characterized by hypersensitivity to auditory, olfactory, visual, and cutaneous stimuli; vomiting and nausea; and severe headache. It is the most frequent headache syndrome in children and can be categorized in chronic and/or episodic. Multiple dietary supplements have been inaugurated for the management of migraine, the most prevalent of which is vitamin
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It's easier to relearn gross motor skills than learn them for the first time after injury: Empirical evidence informing the age at injury debate Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-09-12 Thomas B. Atkinson, Rob J. Forsyth
The effect of age at injury on outcomes after brain injury has long been debated. Many have argued that the greater plasticity of the immature brain aids in its recovery from trauma, but others (notably Donald Hebb) have argued that early injury can impair the future ability of the brain to acquire new capabilities. This is difficult to assess empirically due to the presence of many age-dependent confounders
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Relationship between 4-month functional brain network topology and 24-month neurodevelopmental outcome in children with congenital heart disease Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-09-11 Sarah Provost, Solène Fourdain, Phetsamone Vannasing, Julie Tremblay, Kassandra Roger, Yalina García-Puente, Amélie Doussau, Marie-Claude Vinay, Zorina Von Siebenthal, Natacha Paquette, Nancy Poirier, Anne Gallagher
Survivors of complex forms of congenital heart disease (CHD)∗ are at high risk of neurodevelopmental disabilities. Neuroimaging studies have pointed to brain anomalies and immature networks in infants with CHD, yet less is known about their functional network topology and associations with neurodevelopment. To characterize the functional network topology in 4-month-old infants with repaired CHD, we
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Assessing Communication, Beyond Just Words Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-09-09 Kimberly Goodspeed
Abstract not available
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Characterizing, Classifying, and Collecting Spells in Paroxysmal Disorders – A Need as Targeted Therapies Approach for Childhood Neurological Disorders Eur. J. Paediatr. Neurol. (IF 3.1) Pub Date : 2023-09-09 Phillip L. Pearl
Abstract not available