Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis
To systematically evaluate the diagnostic accuracy of the creatine kinase isoenzyme-MM (CK-MM) test in newborn screening for Duchenne muscular dystrophy (DMD). (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 10, 2024 Category: Neurology Authors: Liang Tang, Mengwen Pan, Fan Wu Tags: Review Article Source Type: research
Diagnostic accuracy of CK-MM test in newborn screening for DMD: A systematic review and meta-analysis
To systematically evaluate the diagnostic accuracy of the creatine kinase isoenzyme-MM (CK-MM) test in newborn screening for Duchenne Muscular Dystrophy (DMD). (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 10, 2024 Category: Neurology Authors: Liang Tang, Mengwen Pan, Fan Wu Tags: Review Article Source Type: research
Reducing Time to Electroencephalography in Pediatric Convulsive Status Epilepticus: A Quality Improvement Initiative
Pediatric convulsive status epilepticus (CSE) is a neurological emergency utilizing electroencephalography (EEG) to guide therapeutic interventions. Guidelines recommend EEG initiation within one hour of seizure onset, but logistic and structural barriers often lead to significant delays. We aimed to reduce the time to EEG in pediatric CSE. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 8, 2024 Category: Neurology Authors: Lindsey A. Morgan, Brittany N. Sprigg, Dwight Barry, Jennifer B. Hrachovec, Edward J. Novotny, Lisa F. Akiyama, Nicholas Allar, Joshua K. Matlock, Leslie A. Dervan Tags: Research Paper Source Type: research
Sleep and the social profiles of individuals with Rett Syndrome
Individuals with Rett Syndrome (RTT) present unique social behaviors involving loss of spoken language, eye gaze communication, and gait abnormalities. In addition, sleeping is reported to be problematic. The aim of this study is to characterize social profiles in RTT and to examine their relationship with sleep, sleep-disordered breathing (SDB), and daytime sleepiness. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 8, 2024 Category: Neurology Authors: Xinyan ZHANG, Marcel SMITS, Leopold CURFS, Karen SPRUYT Tags: Research Paper Source Type: research
Reducing Time to EEG in Pediatric Convulsive Status Epilepticus: A Quality Improvement Initiative
Pediatric convulsive status epilepticus (CSE) is a neurologic emergency that often requires electroencephalogram (EEG) to guide therapeutic interventions. Guidelines recommend EEG initiation within one hour of seizure onset, but logistic and structural barriers lead to significant delays at many centers. We aimed to reduce time to EEG in pediatric CSE to align with these guidelines. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 8, 2024 Category: Neurology Authors: Lindsey A. Morgan, Brittany N. Sprigg, Dwight Barry, Jennifer B. Hrachovec, Edward J. Novotny, Lisa F. Akiyama, Nicholas Allar R, Joshua K. Matlock, Leslie A. Dervan Tags: Research Paper Source Type: research
Ferritin as an Effective Predictor of Neurological Outcomes in Children With Acute Necrotizing Encephalopathy
Acute necrotizing encephalopathy (ANE) is a fulminant disease with poor prognosis. Cytokine storm is the important phenomenon of ANE that affects the brain and multiple organs. The study aimed to identify whether hyperferritinemia was associated with poor prognosis in patients with ANE. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 6, 2024 Category: Neurology Authors: En-Pei Lee, Jainn-Jim Lin, Han-Pi Chang, Chen-Wei Yen, Ming-Shun Hsieh, Oi-Wa Chan, Kuang-Lin Lin, Ya-Ting Su, Chun-Ting Mu, Shao-Hsuan Hsia Tags: Research Paper Source Type: research
Ferritin as an Effective Predictor of Neurologic outcomes in Children With Acute Necrotizing Encephalopathy
Acute necrotizing encephalopathy (ANE) is a fulminant disease with poor prognosis. Cytokine storm is the important phenomenon of ANE that affected the brain and multiple organs. The study aimed to identify whether hyperferritinemia was associated with poor prognosis in patients with ANE. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 6, 2024 Category: Neurology Authors: En-Pei Lee, Jainn-Jim Lin, Han-Pi Chang, Chen-Wei Yen, Ming-Shun Hsieh, Oi-Wa Chan, Kuang-Lin Lin, Ya-Ting Su, Chun-Ting Mu, Shao-Hsuan Hsia Tags: Research Paper Source Type: research
A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients
Fatty acid 2-hydroxylase (FA2H) is encoded by the FA2H gene, with mutations therein leading to the neurodegenerative condition, spastic paraplegia-35 (SPG35). We aim to elucidate the genetic underpinnings of a nonconsanguineous Chinese family diagnosed with SPG35 by examining the clinical manifestations, scrutinizing genetic variants, and establishing the role of FA2H mutation in lipid metabolism. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Lidangzhi Mo, Xiaoling Tie, Fengyu Che, Liyu Zhang, Benchang Li, Guoxia Wang, Ying Yang Tags: Research Paper Source Type: research
A retrospective review of 18 patients with childhood-onset hereditary spastic paraplegia, nine with novel variants
Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders characterized primarily by progressive spasticity and weakness in the lower limbs. Our objective was to determine the clinical and molecular characteristics of patients with genetically confirmed childhood-onset HSPs and to expand the genetic spectrum for some rare subtypes of HSP. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Mehmet Akif KILIC, Edibe Pembegul YILDIZ, Adnan DENIZ, Orhan COSKUN, Fulya KUREKCI, Ridvan AVCI, Hulya Maras GENC, Gozde YESIL, Sinan AKBAS, Ahmet YESILYURT, Bulent KARA Tags: Research Paper Source Type: research
A novel homozygous deletion including exon 1 of FA2H gene cause spastic paraplegia-35: genetic and lipidomics analysis of the patients
This is the first study of lipid metabolism in the blood of SPG35 patients. The results broaden our understanding of the SPG35 gene spectrum, offering insights for future molecular mechanism research and laying a groundwork for determining metabolic markers. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Lidangzhi Mo, Xiaoling Tie, Fengyu Che, Liyu Zhang, Benchang Li, Guoxia Wang, Ying Yang Tags: Research Paper Source Type: research
Risk factors for massive cerebral infarction in pediatric patients with moyamoya disease
To explore risk factors for preoperative massive cerebral infarction (MCI) in pediatric patients with moyamoya disease (MMD). (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Fangbin Hao, Gan Gao, Qingbao Guo, Simeng Liu, Minjie Wang, Zhengyao Chang, Hui Wang, Mingming Lu, Shitong Liu, Zhengxing Zou, Qian Zhang, Xiaopeng Wang, Heguan Fu, Jingjie Li, Cong Han, Lian Duan Tags: Research Paper Source Type: research
Practical considerations for delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy
Delandistrogene moxeparvovec is a gene transfer therapy approved in the United States, United Arab Emirates, and Qatar for the treatment of ambulatory patients aged 4 through 5 years with a confirmed Duchenne muscular dystrophy (DMD)-causing mutation in the DMD gene. It was developed to address the underlying cause of DMD through targeted skeletal, respiratory, and cardiac muscle expression of delandistrogene moxeparvovec micro-dystrophin, an engineered, functional dystrophin protein. Drawing on clinical trial experience from Study 101 (NCT03375164), Study 102 (NCT03769116), and ENDEAVOR (Study 103; NCT04626674), we outlin...
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Jerry R. Mendell, Crystal Proud, Craig M. Zaidman, Stefanie Mason, Eddie Darton, Shufang Wang, Christoph Wandel, Alexander P. Murphy, Eugenio Mercuri, Francesco Muntoni, Craig M. McDonald Tags: Research Paper Source Type: research
Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America
Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Michelle Silva Zeny, Daniel Almeida do Valle, Mara L úcia Schmitz Ferreira Santos, Tiago S. Bara, Mara L. Cordeiro Tags: Research Paper Source Type: research
A Study of General Movement Assessment and Its Association With Neurodevelopmental Outcome at Age 12 to 15 Months Among Term Neonates With Hyperbilirubinemia
To determine the association between optimality score at term age and age three to five months and neurodevelopmental outcome among neonates with hyperbilirubinemia. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Nagaratna Vallamkonda, Tapas Bandyopadhyay, Arti Maria Tags: Research Paper Source Type: research
Concurrent Developmental Regression and Neurocognitive Decline in a Child with de novo CHD8 Gene Mutation
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder. Unique ASD subtypes have been proposed based on specific genotype-phenotype combinations. The ASD subtype associated with various chromodomain helicase DNA-binding protein 8 (CHD8) mutations has been associated with an incidence of autistic regression greater than that of all-cause ASD, but the mean age of onset of this subtype remains unknown. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Kyung Eun Paik, GenaLynne C. Mooneyham Tags: Short Communication Source Type: research
