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European Journal of Paediatric Neurology : EJPN

https://read.qxmd.com/read/37729706/relationship-between-4-month-functional-brain-network-topology-and-24-month-neurodevelopmental-outcome-in-children-with-congenital-heart-disease
#1
JOURNAL ARTICLE
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 compared graph theory metrics measured using resting-state functional near-infrared spectroscopy (rs-fNIRS) between infants with CHD (n = 22) and healthy controls (n = 30)...
September 11, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37716822/the-value-of-continuing-research-on-epidemiology-of-cerebral-palsy-cp-what-have-we-learned
#2
EDITORIAL
Antigone S Papavasiliou, Dimitrios Zafeiriou
No abstract text is available yet for this article.
September 9, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37709641/assessing-communication-beyond-just-words
#3
EDITORIAL
Kimberly Goodspeed
No abstract text is available yet for this article.
September 9, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37704551/characterizing-classifying-and-collecting-spells-in-paroxysmal-disorders-a-need-as-targeted-therapies-approach-for-childhood-neurological-disorders
#4
EDITORIAL
Phillip L Pearl
No abstract text is available yet for this article.
September 9, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37708783/childhood-onset-epilepsy-in-patients-with-dyskinetic-cerebral-palsy-caused-by-basal-ganglia-and-thalamic-lesions
#5
JOURNAL ARTICLE
Shizuka Nishimoto, Yukihiro Kitai, Satori Hirai, Mika Hirotsune, Naomi Okuyama, Shodo Hirano, Yukiko Mogami, Hiroshi Arai
OBJECTIVE: To elucidate the incidence and outcomes of childhood-onset epilepsy and associated factors in term-born patients with basal ganglia and thalamic lesion (BGTL)-induced dyskinetic cerebral palsy (DCP) caused by perinatal hypoxic-ischemic encephalopathy (HIE). METHODS: We studied 104 term-born patients with BGTL-induced DCP (63 males and 41 females, aged 2-22 years) to investigate the incidence of epilepsy and the factors related to its development. We used multivariate analysis to assess perinatal factors, gross motor function, and the extent of brain lesions...
September 7, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37688937/an-adapted-clinical-global-impression-of-improvement-for-use-in-angelman-syndrome-validation-analyses-utilizing-data-from-the-neptune-study
#6
JOURNAL ARTICLE
Pamela Ventola, Judith Jaeger, Christopher J Keary, Alexander Kolevzon, Maxwell Adams, Bina Keshavan, Celia Zinger-Salmun, Cesar Ochoa-Lubinoff
PURPOSE: Angelman Syndrome (AS) is a rare, severe neurogenetic disorder that causes symptoms such as intellectual disability and motor impairments and is typically diagnosed in early childhood. The complexity and heterogeneity of AS confound characterization of disease severity and pose unique challenges when determining an individual's response to treatment. There is therefore a substantial unmet need for rating scales specifically designed for complex conditions such as AS. To address this, the Clinical Global Impressions (CGI) scale, which has components for both symptom severity (CGI-S) and improvement (CGI-I) was specifically adapted to measure severity (CGI-S-AS) and improvement (CGI-I-AS) in AS...
September 4, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37669572/updated-clinical-recommendations-for-the-management-of-tuberous-sclerosis-complex-associated-epilepsy
#7
REVIEW
Nicola Specchio, Rima Nabbout, Eleonora Aronica, Stephane Auvin, Arianna Benvenuto, Luca de Palma, Martha Feucht, Floor Jansen, Katarzyna Kotulska, Harvey Sarnat, Lieven Lagae, Sergiusz Jozwiak, Paolo Curatolo
Children with tuberous sclerosis complex (TSC), may experience a variety of seizure types in the first year of life, most often focal seizure sand epileptic spasms. Drug resistance is seen early in many patients, and the management of TSC associated epilepsy remain a major challenge for clinicians. In 2018 clinical recommendations for the management of TSC associated epilepsy were published by a panel of European experts. In the last five years considerable progress has been made in understanding the neurobiology of epileptogenesis and three interventional randomized controlled trials have changed the therapeutic approach for the management of TSC associated epilepsy...
August 30, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37660659/a-reappraisal-of-interictal-eeg-characteristics-in-self-limited-epilepsy-with-autonomic-seizures-formerly-known-as-panayiotopoulos-syndrome-or-early-onset-benign-occipital-epilepsy
#8
REVIEW
Hirokazu Oguni
PURPOSE: In the 2022 New International Classification of Epilepsy Syndromes, self-limited epilepsy with autonomic seizures (SeLEAS), formerly known as Panayiotopoulos syndrome is recognized as an electroclinical syndrome that is clinically characterized by autonomic seizures and electroencephalographically by multifocal EEG foci. EEG studies were reviewed herein and the suitability of the EEG definition to characterize SeLEAS was assessed. METHODS AND RESULTS: The EEG findings of SeLEAS studies published to date were reviewed and typical sites of EEG foci and their evolutionary changes with age were analyzed...
August 30, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37639776/pediatric-myasthenia-gravis-with-a-combination-of-achr-and-ryr-is-associated-with-an-earlier-onset-and-lower-csr-rate-a-cohort-study-in-southwest-china
#9
JOURNAL ARTICLE
Jie Liu, Jiannan Ma, Siqi Hong, Li Jiang, Tianyi Li
BACKGROUND: The clinical manifestations and prognosis of myasthenia gravis are related to antibodies, and children are affected differently than adults. The presence of ryanodine receptor and titin antibodies in adults indicates late onset and severe disease related to thymoma, but their role in children is rarely reported. METHODS: This study collected a cohort of children according to inclusion and exclusion criteria, consisting of antibody-negative, AChR-positive, and AChR with or without titin and RyR antibodies...
August 23, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37659186/knowledge-awareness-and-attitudes-towards-epilepsy-among-elementary-schoolteachers-in-the-kingdom-of-bahrain
#10
JOURNAL ARTICLE
Alaa Elmazny, Salman Alzayani, Mohamed Hany Shehata, Rehab Magdy
BACKGROUND: Teachers' awareness of epilepsy and attitudes toward students with epilepsy (SWE) largely affect their health, behavior, and academic performance. This study aimed to assess elementary schoolteachers' background knowledge and attitudes toward epilepsy in the Kingdom of Bahrain. METHODS: A 23-item online questionnaire was distributed to elementary school teachers in all public schools in Bahrain between September 2022 and February 2023. The questionnaire included three sets of questions about teachers'1) demographics and teaching experience, 2) knowledge and experience with epilepsy, and 3) attitude towards SWE...
August 9, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37562161/development-and-testing-of-methods-to-record-and-follow-up-spells-in-patients-with-alternating-hemiplegia-of-childhood
#11
JOURNAL ARTICLE
Maria K Sentmanat, Maria T Papadopoulou, Lyndsey Prange, Carmen Fons, Elisa De Grandis, Aikaterini Vezyroglou, April Boggs, Samantha Su, Marion Comajuan, Jeffrey Wuchich, Sigurður Jóhannesson, Jennifer Anticona Huaynate, Michela Stagnaro, Andrey Megvinov, Shital Patel, Alexis Arzimanoglou, Rosaria Vavassori, Eleni Panagiotakaki, Mohamad A Mikati
BACKGROUND: Developing methods to record Alternating Hemiplegia of Childhood (AHC) spells is essential for clinical trials and patient care. OBJECTIVES: Test the following hypotheses: 1) Video-library training improves participants' ability to correctly identify AHC spells. 2) A custom-designed event-calendar with weekly reviews results in consistent documentation of such events over time. 3) Use of an electronic diary (e-Diary) to register events is a useful tool...
August 4, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37639777/gaboxadol-in-angelman-syndrome-a-double-blind-parallel-group-randomized-placebo-controlled-phase-3-study
#12
JOURNAL ARTICLE
Christopher Keary, Lynne M Bird, Marie-Claire de Wit, Shivkumar Hatti, Gali Heimer, Helen Heussler, Alexander Kolevzon, Adera Mathews, Cesar Ochoa-Lubinoff, Wen-Hann Tan, Ying Yan, Maxwell Adams
PURPOSE: To evaluate efficacy and safety of gaboxadol for treatment of children with Angelman syndrome (AS). METHOD: In this international, double-blind, phase 3 trial, we randomized children 4-12 years old with a molecular diagnosis of AS and a Clinical Global Impression (CGI)-severity score ≥3 to either daily administration of weight-based gaboxadol or matching placebo for 12 weeks. The primary endpoint was the CGI-Improvement-AS (CGI-I-AS) score at week 12...
August 1, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37536121/validation-of-the-observer-reported-communication-ability-orca-measure-for-individuals-with-rett-syndrome
#13
JOURNAL ARTICLE
Bryce B Reeve, Nicole Lucas, Dandan Chen, Molly McFatrich, Harrison N Jones, Kelly L Gordon, Leslie Zapata Leiva, Li Lin, Monica Coenraads, Jana von Hehn, Randall L Carpenter, Eric D Marsh, Christina K Zigler
PURPOSE: The study goal was to validate the Observer-Reported Communication Ability (ORCA) measure for use with females with Rett Syndrome (RTT). METHODS: Qualitative interviews, including concept elicitation and cognitive interviewing methods, were conducted with 19 caregivers of individuals with RTT ages 2 and older. A quantitative study was then conducted in 279 caregivers to evaluate construct validity and reliability. RESULTS: After minor modifications were made, the modified ORCA measure was well understood and captured key communication concepts...
July 28, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37544258/a-novel-approach-to-seizures-in-neonates
#14
REVIEW
Evelina Carapancea, Maria Roberta Cilio
THE CHALLENGE OF SEIZURE RECOGNITION: Recognition of seizures in neonates remains the foremost challenge to overcome. All neonates at risk for seizures, especially the critically ill, should undergo video-EEG monitoring. The initial step toward an accurate diagnosis is the accurate description and interpretation of the electro-clinical phenotype. THE IMPORTANCE OF SEIZURE SEMIOLOGY AND ASSOCIATION WITH ETIOLOGY: The early distinction between acute provoked seizures and neonatal-onset epilepsies serves as the primary determinant for guiding management, treatment choices, and duration...
July 27, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37540964/altered-white-matter-organization-and-its-correlations-with-executive-functioning-among-adolescents-with-epilepsy
#15
JOURNAL ARTICLE
Dror Kraus, Rola Farah, Haya Fischer, Jennifer Vannest, Shari L Wade, Rupa Radhakrishnan, Avani C Modi, Tzipi Horowitz-Kraus
Deficits in executive functions (EF) are a common comorbidity among adolescents with epilepsy. EF deficits were previously correlated with altered connectivity of the fronto-parietal and cingulo-opercular neural networks. The current study investigated white matter integrity in adolescents with epilepsy (n = 29) relative to healthy controls (n = 19). Participants completed questionnaires, neuropsychological testing, and brain magnetic resonance imaging (MRI) that included diffusion tensor imaging (DTI) sequences...
July 23, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37463545/pain-and-health-related-quality-of-life-in-duchenne-muscular-dystrophy-a-multiple-mediator-analysis
#16
JOURNAL ARTICLE
James W Varni, Karen Uzark
OBJECTIVES: The objective was to investigate the serial mediating effects of daily activities, patient health communication, and disease-specific worry in the relationship between pain intensity and overall generic health-related quality of life (HRQOL) in pediatric patients with Duchenne muscular dystrophy from the patient perspective. METHODS: Pain Intensity Item, Daily Activities Scale, Communication Scale and Worry Scale from Pediatric Quality of Life Inventory (PedsQL) Duchenne Muscular Dystrophy Module and PedsQL 4...
July 11, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37473536/health-related-quality-of-life-of-children-with-spinal-muscular-atrophy-in-sweden-a-prospective-cohort-study-in-the-era-of-disease-modifying-therapy
#17
JOURNAL ARTICLE
Erik Landfeldt, Camilla Udo, Malin Lövgren, Thomas Sejersen, Ulrika Kreicbergs
The objective of this study was to estimate change over time in health-related quality of life (HRQoL) of children with spinal muscular atrophy (SMA) in Sweden. Children with SMA were identified via the National Patient Register by the National Board of Health and Welfare in Sweden. Patient HRQoL was caregiver proxy-assessed using the Pediatric Quality of Life Inventory 4.0 Generic Core Scales at baseline, as well as at 6, 12, and 18 months of follow-up. Results were stratified by SMA type. Mothers and fathers to 27 children with SMA (mean patient age: 9...
July 8, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37453233/feasibility-analysis-of-intrathecal-administration-strategy-of-nusinersen-based-on-cobb-angle-in-children-with-spinal-muscular-atrophy
#18
JOURNAL ARTICLE
Jinjin Huang, Yijie Feng, Jia Wang, Siyi Huang, Jianing Jin, Lu Xu, Congying Zhao, Yi Hua, Xiaoying Li, Jingfang Xu, Haibing Li, Huan Zhang, Yi Zhang, Feng Gao, Shanshan Mao
AIM: This retro-prospective observational study described the experience in lumbar puncture procedures in children with spinal muscular atrophy (SMA) with and without neuromuscular scoliosis in a single center. The technical feasibility of intrathecal nusinersen administration was the main limiting factor. STUDY DESIGN: A total of 457 technically successful intrathecal injections based on a hierarchical strategy in Cobb angle were reviewed in 81 SMA children aged 0...
July 7, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37433712/unravelling-key-pathways-in-childhood-ataxia-to-guide-diagnosis-and-treatment
#19
EDITORIAL
Andreas Brunklaus
No abstract text is available yet for this article.
July 6, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37423817/neurofilament-as-a-biomarker-are-we-there-yet
#20
EDITORIAL
Cheryl Hemingway
No abstract text is available yet for this article.
July 5, 2023: European Journal of Paediatric Neurology: EJPN
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