Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
This study presents the findings of a newborn screening (NBS) pilot project for spinal muscular atrophy (SMA) 5q in multiple regions across Russia for a period of 2022 year. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of SMA5q in Russia as well as the distribution of patients with different number of SMN2 copies. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 24, 2024 Category: Neurology Authors: Irina Yu. Efimova, Rena A. Zinchenko, Andrey V. Marakhonov, Natalya V. Balinova, Kristina A. Mikhalchuk, Olga A. Shchagina, Alexander V. Polyakov, Dzhaina A. Mudaeva, Djamila H. Saydaeva, Svetlana A. Matulevich, Polina D. Parshintseca, Elena Yu. Belyashov Tags: Research Paper Source Type: research
Neurocognitive impairment in patients with Ataxia Telangiectasia and their unaffected parents: Is it similar?
This study aimed to evaluate neurocognitive functioning in patients with AT and their unaffected parents. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 21, 2024 Category: Neurology Authors: Emel Uyar, Hacer Akturk, Sevil Usanmaz, Ayca Kiykim, Ali Evren Tufan, Hande Alibas, Omer Aydiner, Ayper Somer, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner Tags: Research Paper Source Type: research
Brain network characterization of preterm infants with bronchopulmonary dysplasia
Bronchopulmonary dysplasia (BPD) affects the microstructure of white matter in preterm infants, but its influence on the changes of the brain structural network has not been elaborated. To investigate the connectivity characteristics of the brain structural network of BPD by using diffusion tensor imaging. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 20, 2024 Category: Neurology Authors: Ying Liu, Binbin Nie, Bing Wu, Shuai Wang, Qiaozhi Ma, Tao Han, Feng Wang, Han Meng, Hao Xie, Xuetao Mu Tags: Research Paper Source Type: research
Novel genetic variants distinguishing MOG-IgG positive from MOG-IgG negative pediatric ADEM in Northern China
Acute disseminated encephalomyelitis (ADEM) is a commonphenotype in children with myelin oligodendrocyte glycoprotein IgG (MOG-IgG)-associated disease. We aimed to identify novel genetic variants that distinguish children with MOG-IgG positive ADEM (MOG-IgG+ADEM) from children with MOG-IgG negative ADEM (MOG-IgG-ADEM) using whole exome sequencing (WES) analysis. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 18, 2024 Category: Neurology Authors: Yaqiong Cui, Bo Wu, Jinying Wu, Shuyue Zhang, Pan Guo, Jianbo Shu, Dong Li, Chunquan Cai Tags: Research Paper Source Type: research
Safety of Obinutuzumab in children with autoimmune encephalitis and early B cell repopulation on rituximab.
The study objective was to report the use and safety of obinutuzumab in rituximab-resistant children with neurological inflammatory diseases. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 18, 2024 Category: Neurology Authors: A.T. Nguyen, C. Cotteret, C. Gins, E. Sarda, C. Durrleman, B. Mesples, J. Bustamante, C. Fayard, S. Cisternino, I. Desguerre, M. Aubart Tags: Research Paper Source Type: research
Identifying Lesions of the Corpus Callosum in Patients with Neurofibromatosis Type 1
To investigate the rate of lesions of the corpus callosum (CC), specifically unidentified bright objects (UBOs) and gliomas, in a large cohort of Neurofibromatosis type 1 (NF1) patients. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 17, 2024 Category: Neurology Authors: Nora Jandhyala, Mekka R. Garcia, Monica Kim, Kaleb Yohay, Devorah Segal Tags: Research Paper Source Type: research
Editorial Board and Masthead
(Source: Pediatric Neurology)
Source: Pediatric Neurology - April 12, 2024 Category: Neurology Source Type: research
Table of Contents
(Source: Pediatric Neurology)
Source: Pediatric Neurology - April 12, 2024 Category: Neurology Source Type: research
Effect of Piracetam and Iron Treatment on Heart rate variability in patients with Breath-holding spell
Breath-holding spells are a benign condition primarily seen in 3-5% of healthy children between six months and five years age. Although no specific treatment is recommended due to its benign nature, iron, and piracetam are used in severe or recurrent cases. In our study, we planned to compare the HRV before and after treatment with 24-hour Holter monitoring in patients receiving iron and piracetam treatment and investigate the treatment's effectiveness. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 12, 2024 Category: Neurology Authors: Mehmet Öncül, Özlem Elkıran, Cemşit Karakurt, Serdal Güngör, Serdar Akın Maraş, Harika Gözde Gözükara Bağ Tags: Research Paper Source Type: research
Optic Nerve Edema in Pediatric Middle Cranial Fossa Arachnoid Cysts: Report of 51 Cases from a Single Institution
Middle fossa arachnoid cysts (MFACs) are rare, congenital lesions that may rupture and cause symptoms of elevated intracranial pressure (ICP). Thus, we sought to describe the presence and factors associated with optic nerve edema in MFACs, focusing on the utility of ophthalmologic evaluations for guiding cyst management. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 12, 2024 Category: Neurology Authors: Joanna E. Papadakis, Anna L. Slingerland, Shivani D. Rangwala, Mark R. Proctor, Ankoor S. Shah, Alfred P. See Tags: Research Paper Source Type: research
Expedited Exome Re-analysis following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
Exome sequencing (ES) is a useful tool in diagnosing suspected mitochondrial disease but can miss pathogenic variants for several reasons. Additional testing, such as muscle biopsy or biochemical testing, can be helpful in exome-negative cases. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 11, 2024 Category: Neurology Authors: Elizabeth Pickup, Steven A. Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman, Kuntal Sen Tags: Short Communication Source Type: research
Evaluation of the sleep profile in children with Cri du Chat syndrome: a pilot study
Sleep is a natural and cyclical physiological state, which presents changes in its quantity and composition during child development, with a fundamental role in the construction of various cognitive capabilities, learning, attention, memory and growth. The prevalence of poor sleep in individuals with intellectual disability is between 8.5 –31.4% for adults1 and 16–42% for children2. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 9, 2024 Category: Neurology Authors: Sandra D. Xavier, Mariana Moys és-Oliveira, Anna Karoliny Kloster, Bianca Balbueno, Sergio Tufik, Monica L. Andersen Tags: Short Communication Source Type: research
How cancer harms the developing brain: long term outcomes in pediatric cancer survivors
Survival rates for pediatric cancer are improving, resulting in a rising need to understand and address long-term sequelae. In this narrative review, we summarize the effects of cancer and its treatment on the developing brain, with a focus on neurocognitive function in leukemia and pediatric brain tumor survivors. We then discuss possible mechanisms of brain injury and management considerations. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 8, 2024 Category: Neurology Authors: Benjamin I. Siegel, Juliane Gust Source Type: research
Shaping Brighter Futures: The Transformative Impact of Sleep on Children and Adolescent Well-Being
Sleep, often overlooked and undervalued, is fundamental for a child and adolescent's comprehensive development, physically, cognitively, and emotionally. The National Sleep Foundation recommends optimal sleep durations for well-being as follows: 8-10 hours for adolescents, 9-11 hours for school-age children, 10-13 hours for pre-school children, 11-14 hours for toddlers, 12-15 hours for infants, and 14-17 hours for newborns [1]. However, alarming statistics from the CDC reveal an urgent public health crisis: 78% of high school students and 34% of children do not get enough sleep on school nights [2]. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 7, 2024 Category: Neurology Authors: Joanna Fong-Isariyawongse, Sanjeev V. Kothare Tags: Editorial Source Type: research
NCOR2 is a candidate gene for neurodevelopmental disorders
Whole genome and exome sequencing have revolutionized our understanding of the molecular basis of neurodevelopmental disorders. Many neurodevelopmental disorders of unknown etiology or those previously attributed to chromosomal structural variations are now being characterized molecularly. We recently found biallelic variations in NCOR2 encoding nuclear receptor corepressor 2 (NCOR2) in a child with autism, intellectual impairment, and chromosome 16p13.11 microdeletion by whole exome sequencing. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 6, 2024 Category: Neurology Authors: Pankaj Prasun Tags: Short Communication Source Type: research
