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Journals European Journal of Paediatric...

European Journal of Paediatric Neurology : EJPN

https://read.qxmd.com/read/38484414/association-between-vitamin-b12-deficiency-and-risk-of-paediatric-narcolepsy-evidence-from-cross-sectional-study-and-mendelian-randomization-analysis
#1
JOURNAL ARTICLE
Chaofan Geng, Leilei Tan, Bo Zhao, Chen Chen
BACKGROUND: 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. METHODS: To investigate the causal relationship between vitamin B12 and paediatric narcolepsy, we conducted a retrospective analysis involving 60 narcolepsy patients and a matched control group...
March 7, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38484415/adolescents-with-rett-syndrome-at-critical-care-pathway-junctures-examining-clinicians-decision-to-initiate-invasive-long-term-ventilation
#2
JOURNAL ARTICLE
Mary Brigid Quirke, Denise Alexander, Lorna Cassidy, Cathal Walsh, Kate Masterson, Katie Hill, Maria Brenner
BACKGROUND: 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. OBJECTIVE: We aimed to identify the main drivers influencing a clinician's decision to support initiation of I-LTV for an adolescent with RTT. METHOD: We used an anonymous online vignette-based factorial survey...
March 6, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38492551/on-punctate-white-matter-lesions-in-preterm-infants-is-ultrasound-diagnosis-feasible
#3
JOURNAL ARTICLE
Philippe Quétin, Nicolas Leboucq, Charlotte Boyer, Françoise Crozier, Philippe Delachartre, Marilyne Grinand, Philippe Masson, Olivier Claris
OBJECTIVES: 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). DESIGN: Retrospective observational single-center cohort study. SETTING: Level 2B neonatal unit in France. PATIENTS: 307 infants born <33 weeks gestation undergoing routine cUS with a total of 961 cUS performed...
March 1, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38479210/moving-across-disorders-a-cross-sectional-study-of-cognition-in-early-onset-ataxia-and-dystonia
#4
JOURNAL ARTICLE
Maraike A Coenen, Deborah Sival, Rick Brandsma, Hendriekje Eggink, Marieke E Timmerman, Marina A Tijssen, Jacoba M Spikman
BACKGROUND: 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 is determining. A pending question is whether predominantly EOA and EOD have different profiles of cognitive impairment...
March 1, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38457958/vaccination-proposal-for-patients-on-onasemnogene-abeparvovec-therapy
#5
REVIEW
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 a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomatically and children diagnosed with symptoms at any age...
March 1, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38447504/be-aware-of-childhood-stroke-proceedings-from-epns-webinar
#6
REVIEW
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. The incidence of childhood AIS is on the rise especially in developing countries, likely due to improved awareness and diagnostic capabilities. Aetiology of childhood AIS is multifactorial, with both modifiable risk factors and genetic predisposition playing important roles. Identifying and addressing these risk factors, such as infection, sickle cell disease, and congenital heart defects, is essential in prevention and management...
February 23, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38403569/on-the-way-to-early-diagnosis
#7
EDITORIAL
Martin Magner
No abstract text is available yet for this article.
February 22, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38431515/the-promise-of-personalized-medicine-in-pediatric-epilepsy-the-time-has-come
#8
EDITORIAL
Phillip L Pearl
No abstract text is available yet for this article.
February 20, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38429149/real-life-data-comparing-the-efficacy-of-vigabatrin-and-oral-steroids-given-sequentially-or-combined-for-infantile-epileptic-spasms-syndrome
#9
EDITORIAL
Piero Pavone, Raffaele Falsaperla
No abstract text is available yet for this article.
February 20, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38443292/editorial-commentary-on-myotonic-dystrophy-type-1-steinert-disease-29-years-of-experience-at-a-tertiary-pediatric-hospital
#10
EDITORIAL
Thomas Sejersen
No abstract text is available yet for this article.
February 19, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38394710/electro-clinical-features-and-long-term-outcomes-in-guanidinoacetate-methyltransferase-gamt-deficiency
#11
JOURNAL ARTICLE
Yılmaz Yıldız, Didem Ardıçlı, Rahşan Göçmen, Dilek Yalnızoğlu, Meral Topçu, Turgay Coşkun, Ayşegül Tokatlı, Göknur Haliloğlu
OBJECTIVE: 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. METHODS: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency. RESULTS: Median age at presentation and diagnosis were 11...
February 15, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38367370/real-life-retrospective-study-of-cannabidiol-therapy-in-alternating-hemiplegia-of-childhood
#12
JOURNAL ARTICLE
Shital Patel, Kayli Maney, Lauren Morris, Maria T Papadopoulou, Lyndsey Prange, April Boggs, Arsen Hunanyan, Andrey Megvinov, Rosaria Vavassori, Eleni Panagiotakaki, Mohamad A Mikati
BACKGROUND: Many alternating hemiplegia of childhood (AHC) patients have received Cannabidiol (CBD) but, to our knowledge, there are no published data available. GOALS: Test the hypothesis that CBD has favorable effects on AHC spells. METHODS: 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 with calculation of 95% confidence interval (CI) for rejection of the null hypothesis...
February 12, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38367369/neurological-outcomes-and-mortality-after-neonatal-seizures-with-electroencephalographical-verification-a-systematic-review
#13
JOURNAL ARTICLE
Hanna Westergren, Mikael Finder, Helena Marell-Hesla, Ronny Wickström
AIM: To conduct a systematic review of post-neonatal neurological outcomes and mortality following neonatal seizures with electroencephalographical verification. METHODS: 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 each. From studies included, outcome results for post-neonatal epilepsy, cerebral palsy, intellectual disability, developmental delay, mortality during and after the neonatal period and composite outcomes were extracted...
February 12, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38364750/a-systematic-review-of-psychosocial-interventions-for-children-and-young-people-with-epilepsy
#14
REVIEW
Anthony Mercier, Liam Dorris
BACKGROUND: 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 base. The present systematic review provides an update and extension of findings from an earlier review by Corrigan et al...
February 11, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38430714/unmet-health-care-needs-over-the-first-2-years-after-pediatric-traumatic-brain-injury
#15
JOURNAL ARTICLE
Hilde Margrete Dahl, Ingvil Laberg Holthe, Nada Andelic, Marianne Løvstad, Mia C Myhre
AIM: Few studies have addressed how children and adolescents with traumatic brain injuries (TBIs) access health care and educational services. This study aimed to investigate the course of symptoms during the first two years after TBI, whether symptoms implied a need for health care and/or educational services, and the extent of unmet needs. The association between unmet needs and health-related quality of life was also explored. METHODS: This prospective cohort study was conducted at Oslo University Hospital, Norway, from 2015 to 2018...
February 7, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38377647/impact-of-newborn-screening-for-fatty-acid-oxidation-disorders-on-neurological-outcome-a-belgian-retrospective-and-multicentric-study
#16
JOURNAL ARTICLE
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 to death. In this retrospective and multicentric study, the data of 54 patients with FAO disorders were collected...
February 7, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38330549/longitudinal-assessment-of-brain-lesions-in-children-with-cerebral-palsy-and-association-with-motor-functioning
#17
JOURNAL ARTICLE
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 whether these were associated with lesion load, age at first assessment, and gross motor function and its changes...
January 28, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38324990/neurodevelopmental-outcome-of-neonatal-seizures-a-longitudinal-study
#18
JOURNAL ARTICLE
Licia Lugli, 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 outcomes and potential risk factors for severe outcomes in NS...
January 28, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38290170/validation-of-the-2023-international-diagnostic-criteria-for-mogad-in-a-pediatric-cohort
#19
JOURNAL ARTICLE
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 and 15/08/2023 were included. Diagnostic criteria for MOGAD were applied and sensitivity and specificities were calculated...
January 23, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38271780/clinical-outcomes-and-anti-mog-antibodies-in-pediatric-optic-neuritis-a-prospective-observational-study
#20
JOURNAL ARTICLE
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 Status Scale (EDSS), Anti-MOG and AQP-4 antibodies were assessed...
January 17, 2024: European Journal of Paediatric Neurology: EJPN
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