journal
Journals European Journal of Paediatric...

European Journal of Paediatric Neurology : EJPN

https://read.qxmd.com/read/38278011/incidence-and-factors-associated-with-moderate-severe-pediatric-traumatic-brain-injury-in-children-aged-5-15%C3%A2-years-in-western-mexico
#21
JOURNAL ARTICLE
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 populations. We utilized the Glasgow Coma Scale (GCS) to identify moderate/severe p-TBI patients (GCS ≤ 13)...
January 12, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38241904/epitrans-quality-assessment-of-the-epilepsy-transition-process
#22
JOURNAL ARTICLE
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
OBJECTIVE: 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. METHODS: 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 3 years before the transition visit and at least 3 years consulting in the adults section...
January 12, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38217965/visual-outcome-measures-in-pediatric-myelin-oligodendrocyte-glycoprotein-antibody-associated-disease-mogad
#23
JOURNAL ARTICLE
Flavia C Gericke, James V M Hanson, Annette Hackenberg, Christina Gerth-Kahlert
BACKGROUND: 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 often experience complete visual recovery. AIMS: To analyze the progression and impact of MOGAD on the visual system of pediatric patients independently of the history of ON...
December 30, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38377646/language-outcomes-in-children-who-underwent-surgery-for-the-removal-of-a-posterior-fossa-tumor-a-systematic-review
#24
REVIEW
Cheyenne Svaldi, Effy Ntemou, Roel Jonkers, Saskia Kohnen, Vânia de Aguiar
BACKGROUND: 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. METHODS: A systematic literature search was conducted, identifying studies with patients who had posterior fossa surgery before 18 years of age...
December 23, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38096596/characteristics-of-non-sleep-related-apneas-in-children-with-alternating-hemiplegia-of-childhood
#25
JOURNAL ARTICLE
Julie Thamby, Lyndsey Prange, April Boggs, M Omar Subei, Cory Myers, Julie Uchitel, Mai ElMallah, Brittnie Bartlett-Lee, James J Riviello, Mohamad A Mikati
BACKGROUND: Non-sleep related apnea (NSA) has been observed in alternating hemiplegia of childhood (AHC) but has yet to be characterized. GOALS: Investigate the following hypotheses: 1) AHC patients manifest NSA that is often severe. 2) NSA is usually triggered by precipitating events. 3) NSA is more likely in patients with ATP1A3 mutations. METHODS: Retrospective review of 51 consecutive AHC patients (ages 2-45 years) enrolled in our AHC registry...
December 10, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38096597/fat-embolism-syndrome-in-duchenne-muscular-dystrophy-report-on-a-novel-case-and-systematic-literature-review
#26
JOURNAL ARTICLE
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 been on glucocorticoid treatment. Five months post-surgery, he remained in a state of minimal consciousness...
December 6, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38088012/myotonic-dystrophy-type-1-steinert-disease-29-years-of-experience-at-a-tertiary-pediatric-hospital
#27
JOURNAL ARTICLE
Inês Cascais, Cristina Garrido, Lurdes Morais, Rosa Amorim, Rosa Lima, Helena Ferreira Mansilha, Teresa Correia, António Oliveira, Manuela Santos
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. METHODS: 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. RESULTS: Thirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16...
December 6, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38071849/ultra-rare-ultra-care-assessing-the-impact-of-caring-for-children-with-ultra-rare-diseases
#28
JOURNAL ARTICLE
Jan Domaradzki, Dariusz Walkowiak
BACKGROUND: 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. METHODS: A total of 200 caregivers of 219 URDs children completed an on-line survey regarding the challenges and experiences of caregivers of URDs children. RESULTS: The majority of URD caregivers felt burdened by their children's health problems, emotional and behavioural changes...
December 6, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38056117/neurological-presentations-of-inborn-errors-of-purine-and-pyrimidine-metabolism
#29
REVIEW
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 activity of enzymes involved in this metabolism and has been reported in humans for over 60 years. This review provides an overview of neurological presentations of inborn errors of purine and pyrimidine metabolism...
December 4, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38041897/real-life-data-comparing-the-efficacy-of-vigabatrin-and-oral-steroids-given-sequentially-or-combined-for-infantile-epileptic-spasms-syndrome
#30
JOURNAL ARTICLE
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
AIMS: 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. METHODS: We compared two real-life IESS cohorts: a multicenter, retrospective cohort of 40 infants treated with vigabatrin followed by a sequential (ST) addition of steroids, and a prospective, single-center cohort of 58 infants treated with an immediate combination of vigabatrin and steroids (CT)...
November 27, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38043384/the-emerging-spectrum-of-neurodevelopmental-comorbidities-in-early-onset-spinal-muscular-atrophy
#31
LETTER
Giovanni Baranello
No abstract text is available yet for this article.
November 23, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38039826/from-diagnosis-to-treatment-in-genetic-epilepsies-implementation-of-precision-medicine-in-real-world-clinical-practice
#32
JOURNAL ARTICLE
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 cohort of individuals with epilepsy referred for genetic testing in a real-world clinical setting, (2) investigate the influence of epilepsy characteristics on the diagnostic yield, (3) determine the theoretical yield of treatment changes based on genetic diagnosis and (4) explore the barriers to implementation of precision medicine...
November 22, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38008001/respiratory-function-in-lama2-related-muscular-dystrophy-and-selenon-related-congenital-myopathy-a-1-5-year-natural-history-study
#33
JOURNAL ARTICLE
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
INTRODUCTION: 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. METHODS: Our prospective 1.5-year natural history study included spirometry (forced vital capacity (FVC); difference between upright and supine vital capacity (dVC)), respiratory muscle strength tests (sniff nasal inspiratory pressure (SNIP)) (age≥5 years), and diaphragm ultrasound (thickness; thickening; echogenicity; all ages)...
November 22, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38008002/an-online-survey-among-general-pediatricians-on-melatonin-use-in-children-with-chronic-insomnia
#34
JOURNAL ARTICLE
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
OBJECTIVES: 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. STUDY DESIGN: A cross-sectional open survey was administered to Italian pediatricians, between June and November 2022, collecting information about their use of MLT in healthy children: age range of patients, dosages used, time of administration, duration of treatment, association with other treatments, perceived efficacy, and side effects...
November 21, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38199204/electrophysiological-variability-as-marker-of-dystonia-worsening-under-deep-brain-stimulation-successive-withdrawal-and-renewal-effects
#35
JOURNAL ARTICLE
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) represents a life-threatening condition that requires urgent assessment and management. Electrophysiological markers for risk of symptom worsening and SD related patterns of evolution in patients treated with long-term deep brain stimulation (DBS), and specially under the effect of withdrawal and renewals of simulation are needed...
November 15, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37984007/is-ketogenic-diet-a-precision-medicine-recent-developments-and-future-challenges
#36
REVIEW
Raffaele Falsaperla, Vincenzo Sortino, Pasquale Striano, Gerhard Kluger, Georgia Ramantani, Martino Ruggieri
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 resistant epilepsy patients. Ketogenic diet is presumed to be a precision medicine tool when applied to the treatment of seizures secondary to GLUT1 transporter deficiency...
November 15, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38008000/yield-of-exome-sequencing-in-patients-with-developmental-and-epileptic-encephalopathies-and-inconclusive-targeted-gene-panel
#37
JOURNAL ARTICLE
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
OBJECTIVE: 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. The aims of this study were to identify causal variants for DEE in patients for whom the previous examination with a gene panel did not determine their genetic diagnosis...
November 13, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37984006/the-kynurenine-pathway-of-tryptophan-metabolism-in-abdominal-migraine-in-children-a-therapeutic-potential
#38
REVIEW
Michal Fila, Cezary Chojnacki, Jan Chojnacki, Janusz Blasiak
BACKGROUND: 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 that changes in the kynurenine (KYN) pathway of tryptophan (TRP) metabolism played an important role in the pathogenesis and treatment of FIGDs and associated mood disorders...
November 13, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38284996/autoantibody-status-neuroradiological-and-clinical-findings-in-children-with-acute-cerebellitis
#39
MULTICENTER STUDY
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, J H Kreth, S Braig, S Schilling, J Kern, C Blank, B Tro Baumann, S Vieth, M Wallot, M Reindl, H Ringl, K P Wandinger, F Leypoldt, R Höftberger, 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 as acute/subacute onset of cerebellar symptoms and MRI evidence of cerebellar inflammation or additional CSF pleocytosis, positive oligoclonal bands (OCBs), and/or presence of autoantibodies in case of negative cerebellar MRI...
November 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38007306/advances-in-genetics-the-start-of-a-new-stage-for-management-of-focal-cortical-malformations
#40
EDITORIAL
Dorothée Ville
No abstract text is available yet for this article.
November 2023: European Journal of Paediatric Neurology: EJPN
journal
journal
32862
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.