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Three-dimensional gait analysis as a biomarker for GTP cyclohydrolase 1-deficient dopa-responsive dystonia Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-08 Sho Narahara, Nobuhiko Ochi, Yuji Ito, Tadashi Ito, Hajime Narita, Koji Noritake, Hiroyuki Kidokoro, Jun Natsume
GTP-cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) typically presents in childhood with dystonic posture of the lower extremities, gait impairment, and a significant response to levodopa. We performed three-dimensional gait analysis (3DGA) to quantitatively assess the gait characteristics and changes associated with levodopa treatment in patients with GTPCH1-deficient DRD
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An effort to identify genetic determinants in Wilson Disease siblings manifesting striking clinical heterogeneity: An exome profiling study of two Indian families Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-08 Arpan Saha, Shrishti Das, Samragni De, Tithi Dutta, Shubhrajit Roy, Atanu Biswas, Mainak Sengupta
Wilson Disease (WD) is a rare autosomal recessive disorder of copper metabolism caused due to mutations in the copper transporter ATP7B. There is often a striking variability of clinical manifestations among patients with ATP7B mutations, including in siblings. This phenomenon may be caused by individual differences in copper accumulation in hepatocytes and intolerance to copper toxicity as governed
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Clinical and molecular characteristics of neuronal ceroid lipofuscinosis in Saudi Arabia Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-07 Mohammed M. Saleh, Abdulrahim M. Hamhom, Ali AlOtaibi, Malak AlGhamdi, Yousef Housawi, Yaser I. Aljadhai, Seham Alameer, Mohammed Almannai, Lamyaa Ali Jad, Ali H. AlWadie, Sadia Tabassum, Abdulaziz Alsaman, Ali AlAsmari, Fuad Al Mutairi, Hamad Althiyab, Fahad A. Bashiri, Suzan AlHumaidi, Majid Alfadhel, Jonathan W. Mink, Aqeela AlHashim, Eissa A. Faqeih, Saudi NCL Study Consortium, Amal Kentab, H.H
Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population. A retrospective review of electronic medical records was conducted for 63 NCL patients (55 families)
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Effects of a nurse-led cognitive behavioral intervention for parents of children with epilepsy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-07 Zhongling Wu, Xiaolei Li, Yuanxin Huang, Kailing Huang, Bo Xiao, Yunfang Chi, Li Feng, Haojun Yang
This study aimed to evaluate the effects of a nurse-led cognitive behavioral intervention for parents of children with epilepsy (CWE). The study recruited 238 CWE from the neurology ward of Xiangya Hospital from March 2019 to August 2022. According to the interventions after discharge, the children and their parents were randomly divided into 117 parent-child dyads in the intervention group (with parents
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Congenital cytomegalovirus infection with isolated “minor” lesions at fetal MR imaging: long term neurological outcome. Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-07 Chiara Doneda MD, Barbara Scelsa MD, Paola Introvini MD, Maurizio Zavattoni MD, Simona Orcesi MD, Giuseppina Lombardi MD, Lorenza Pugni MD, Monica Fumagalli MD, Mariangela Rustico MD, Elena Vola MD, Filippo Arrigoni MD, Elisa Fabbri MD, Mario Tortora MD, Giana Izzo MD, Maurilio Genovese MD, Cecilia Parazzini MD, Beatrice Tassis MD, Andrea Ronchi MD, Carlo Pietrasanta MD, Fabio Triulzi MD, Andrea Righini
Prognostic relevance of fetal/early postnatal MRI isolated “minor” lesions in congenital Cytomegalovirus (CMV) infection is still unclear, because of heterogeneity of previously reported case-series. The aim of this study was to report the imaging and long term clinical follow-up data on a relatively large cohort of infected fetuses. Among 140 CMV infected fetuses from a single centre 12 year-long
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EVALUATION OF SLEEP HABITS AND THEIR RELATIONSHIP WITH QUALITY OF LIFE IN CHILDREN WITH EPILEPSY Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-06 Fatih Mehmet Akif Özdemir, Halil Çelik
The aim of study was to investigate sleep habits, quality of life (QoL), and the relationship between them in children with epilepsy. In this cross-sectional study, children aged 2-18 years being followed up for epilepsy were assessed using the Child Sleep Habits Questionnaire (CSHQ) and the Pediatric Quality of Life Inventory (PedsQL). Pearson or Spearman correlation analysis was performed to examine
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NDUFV1 Related Mitochondrial Complex-1 Disorders- A Retrospective Case Series and Literature Review Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-06 Aakash Mahesan, Puneet Kumar Choudhary, Gautam Kamila, Aradhana Rohil, Ankit Kumar Meena, Atin Kumar, Prashant Jauhari, Biswaroop Chakrabarty, Sheffali Gulati
Pathogenic variants in gene disrupt mitochondrial complex I, leading to neuro-regression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on related disorders while adding the largest cohort from a single center to the existing literature. We retrospectively collected genetically proven cases of pathogenic variants from our center over
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The Challenge of Examining Social Determinants of Health in People Living with Tourette Syndrome Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-01 Marisela E. Dy-Hollins, Samuel J. Carr, Lisa Osiecki, Daniel T. Lackland, Jenifer H. Voeks, Nicte I. Mejia, Nutan Sharma, Cathy L. Budman, Danielle C. Cath, Marco A. Grados, Robert A. King, Gholson Lyon, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Lori B. Chibnik, Carol A. Mathews, Jeremiah Scharf
To examine the association between race, ethnicity, and parental educational attainment on tic-related outcomes among Tourette Syndrome (TS) participants in the Tourette Association of America International Consortium for Genetics database. 723 participants in the TAAICG dataset aged ≤ 21 years were included. The relationships between tic-related outcomes and race and ethnicity were examined using
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Prevalence and risk factors for cerebral palsy in children with congenital heart disease based on risk of surgical mortality Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-01 Suman Ghosh, Ing Grace Lien, Kerstin Martinez, Tracy Lin, Mark S. Bleiweis, Joseph Philip, Lori C. Jordan, Steven G. Pavlakis
Children with congenital heart disease (CHD) have a higher prevalence of motor impairment secondary to brain injury, resulting in cerebral palsy (CP) The purpose of this study is to determine the prevalence of CP in CHD in a single-center cohort, stratify risk based on surgical mortality using Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) categories and identify
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Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-01 Matthew O’Neal, Ines Noher de Halac, Shawn C. Aylward, Vedat Yildiz, Zapanta Bianca, Nicolas Abreu, Emily de los Reyes
Mutations in the gene cause late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood onset. Clinically, individuals present with progressive motor and cognitive regression, ataxia, and early death. The aim of this study is to establish natural history data of individuals with classic, late infantile onset (<5 years of age) disease. We analyzed the natural
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Motor Impairment Referrals to an International Child Development Clinic: It Isn’t Always Cerebral Palsy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-21 Christie Zheng, Susanne P. Martin-Herz, Christina Briscoe Abath, Rebecca J. Scharf
The majority of the estimated 50 to 100 million children living with disability worldwide reside in low- or middle-income countries (LMIC). As families migrate to avoid humanitarian crises, children with developmental disability and delay warrant particular attention in refugee and international health settings. During transitions, medical documentation may be lost and diagnoses may not be fully understood
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Corrigendum to “Adapted Evidence-Based Clinical Practice Guidelines for Diagnosis and Treatment of Epilepsies in Children: A Tertiary Children's Hospital Update” Pediatric Neurology 141C (2023) (87-92) Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-21 Shimaa A.M. Anwar, Elham E. Elsakka, Mona Khalil, Afaf A.G. Ibrahim, Ahmed ElBeheiry, Sohair Farouk Mohammed, Tarek E.I. Omar, Yasser S. Amer
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Genetic and Congenital Anomalies in Infants with Hypoxic-Ischemic Encephalopathy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-20 Adriana S. Morell, Sarah E. Monsell, Marie-Coralie Cornet, Jessica L. Wisnowski, Robert C. McKinstry, Amit M. Mathur, Yi Li, Hannah C. Glass, Fernando F. Gonzalez, Dennis E. Mayock, Kristen L. Benninger, Krisa P. Van Meurs, Andrea L. Lampland, Tai-Wei Wu, David Riley, Ulrike Mietzsch, Lina Chalak, John Flibotte, Joern-Hendrick Weitkamp, Kaashif A. Ahmad, Toby D. Yanowitz, Mariana Baserga, Stephanie
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Enhancing Diagnostic Accuracy Through Neuroimaging Revisions in Pediatric Pseudotumor Cerebri Syndrome: A Cross-Sectional Study Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-18 Amira Masri MD, Nosaiba Al Ryalat MD, Azmy Hadidy MD, Ashjan Ahmad Al-Shakkah MD, Majd Ali BSc, Mira Al Jaberi MD, Raghad Shihadat MD, Abdallah Rayyan MD, Mohammad AlMasri MD, Lina Abunameh MD
This cross-sectional study aimed to report all neuroimaging findings suggestive of raised intracranial pressure in children with pseudotumor cerebri syndrome (PTCS), before and after re-review by two neuroradiologists. We included 48 children aged <18 years diagnosed with PTCS between 2016 and 2021. Clinical and radiological data were obtained from their medical files. Two neuroradiologists independently
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Higher Risk of Psychiatric Disorders in Children With Febrile Seizures: A Nationwide Cohort Study in Taiwan Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-17 Der-Shiun Wang MD, Chi-Hsiang Chung PhD, Wan-fu Hsu MD, Shyi-Jou Chen MD PhD, Der-Ming Chu MD PhD, Wu-Chien Chien PhD, Nian-Sheng Tzeng MD, Hueng-chuen Fan MD PhD
Febrile seizures occur commonly in children aged between six months and six years. A previous Danish study found a positive correlation between febrile seizures and the overall incidence of psychiatric disorders. This population-based nationwide observational study was conducted to investigate the association between febrile seizures and different psychiatric disorders in Taiwan and the associated
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Screening for Quality of Life in a Neurology Tic Clinic Using Quality Improvement Methodology Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-17 Brandon Morgan, Pedro Weisleder, Anup D. Patel, William Parker, Megan Rose, Catherine Butz
Tic disorders in children often co-occur with other disorders that can significantly impact functioning. Screening for quality of life can help identify optimal treatment paths. This quality improvement (QI) study describes implementation of a quality of life (QoL) measure in a busy neurology clinic to help guide psychological intervention for patients with tics. Using QI methodology outlined by the
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Early onset inherited peripheral neuropathies: the experience of a specialized referral center for genetic diagnosis achievement. Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-10 Alessandro Geroldi, Clarissa Ponti, Alessia Mammi, Serena Patrone, Fabio Gotta, Lucia Trevisan, Francesca Sanguineri, Paola Origone, Andrea Gaudio, Andrea La Barbera, Matteo Cataldi, Chiara Gemelli, Sara Massucco, Angelo Schenone, Paola Lanteri, Chiara Fiorillo, Marina Grandis, Paola Mandich, Emilia Bellone
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. While the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging. During the last 24 years we recruited 223 patients with early onset hereditary
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Vestibular Testing and Impairments in Postoperative Pediatric Cerebellar Mutism Syndrome: A Case Series Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-07 Stephanie Smalling PT DPT, Jeremy Roberts MD, Karen Hendrick AuD, Margot Gray PT DPT, Jordan M. Wyrwa DO
Postoperative pediatric cerebellar mutism syndrome (CMS) may occur following a process affecting the posterior cranial fossa. Recent evidence demonstrates disabling and potentially lasting motor components of this syndrome, including ataxia, hemiparesis, and oculomotor dysfunction. These impairments may contribute to vestibular deficits. This case series contributes data to quantify vestibular dysfunction
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Leptomeningeal Enhancement in Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Antibody Disease, Multiple Sclerosis, and Neuromyelitis Optica Spectrum Disorder Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-02 Adam Goldman-Yassen MD, Azalea Lee BA, Grace Gombolay MD
Anti-myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD) is a type of acquired demyelinating disease that is distinct from multiple sclerosis (MS) and aquaporin-4 antibody neuromyelitis optica spectrum disorder (AQP4-NMOSD). Leptomeningeal enhancement (LME) has been reported in children and adults with MOGAD, and in adults with MS and AQP4-NMOSD, but less is known about LME in pediatric-onset
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Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-02 Anna M. Janzing BSc, Erik Eklund MD PhD, Tom J. De Koning MD PhD, Hendriekje Eggink MD PhD
Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. This review aims to identify the clinical characteristics that are associated with genetic CP to aid clinicians in selecting candidates for genetic testing. The PubMed database was systematically searched to identify genes associated with CP. The clinical
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The Etiologic Risk Factors for Cerebral Palsy at an Orthopedic Surgery Clinic in South Africa Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-02 Dane Maimin Dr. MBChB (UCT), Anlume Mentz, Michaela Thomas, Tao-Mae Van Heerden, Anria Horn Dr. MBChB (UP) MMed (UCT) FC Orth (SA)
Cerebral palsy (CP) is a group of disorders that affect movement and posture caused by injury to the developing brain. Although prematurity and low birth weight are common causes in developed countries, birth asphyxia, kernicterus, and infections have been identified as predominant etiologies in Africa. There is, however, very little information on the etiology of CP in South Africa. We aimed to determine
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Association Between Seizures and Neurodevelopmental Outcome at Two and Five Years in Asphyxiated Newborns With Therapeutic Hypothermia Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-02 Juliette F. Langeslag MD, Wes Onland MD PhD, Floris Groenendaal MD PhD, Linda S. de Vries MD PhD, Anton H. van Kaam MD PhD, Timo R. de Haan MD PhD, The PharmaCool Study Group, Chris H.P. van den Akker, Willem P. de Boode, Filip Cools, Henk J. ter Horst, Koen P. Dijkman, Floris Groenendaal, Timo R. de Haan, Sinno H.P. Simons, Sylke J. Steggerda, Suzanne Mulder-Tollenaer, Alexandra Zecic
To investigate the association between the presence and severity of seizures in asphyxiated newborns and their neurodevelopmental outcome at ages two and five years. Retrospective data analysis from a prospectively collected multicenter cohort of 186 term-born asphyxiated newborns undergoing therapeutic hypothermia (TH) in 11 centers in the Netherlands and Belgium. Seizures were diagnosed by amplitude-integrated
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CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-01 Stephen Chrzanowski MD PhD, Ranjan Batra PhD
The emergence of gene editing technologies offers a unique opportunity to develop mutation-specific treatments for pediatric neurological disorders. Gene editing systems can potentially alter disease trajectory by correcting dysfunctional mutations or therapeutically altering gene expression. Clustered regularly interspaced short palindromic repeats (CRISPR)-based approaches are attractive gene therapy
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Molybdenum Cofactor Deficiency in the Neonate: Expanding the Phenotype Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-01 Fátima Hierro MD, Maria Luís Tomé MD, Joana Grenha MD, Helena Santos MD, Fátima Santos MD, Joana Nunes MD
Abstract not available
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Effect of Placental Transfusion on Long-Term Neurodevelopmental Outcomes in Premature Infants: A Systematic Review and Meta-Analysis of Randomized Controlled Trials Pediatr. Neurol. (IF 3.8) Pub Date : 2024-02-01 Zi-Ming Wang MM, Jia-Yu Zhou MM, Wan Tang MM, Ying-Ying Jiang MM, Rui Wang MM, Lai-Shuan Wang MD PhD
The pathophysiology and the potential risks of placental transfusion (PT) differ substantially in preterm infants, necessitating specific studies in this population. This study aimed to evaluate the safety and efficacy of PT in preterm infants from the perspective of long-term neurodevelopmental outcomes. We conducted a systematic literature search using placental transfusion, preterm infant, and its
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Predictive Value of Fidgety Movement Assessment and Magnetic Resonance Imaging for Cerebral Palsy in Infants Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-28 Hui Wang, Zhenghuan Mao, Yu Du, Haifeng Li, Huiying Jin
The early prediction of cerebral palsy (CP) could enable the follow-up of high-risk infants during the neuroplasticity period. This study aimed to explore the predictive value of fidgety movement assessment (FMA) and brain magnetic resonance imaging (MRI) for the development of CP in clinic rehabilitation setting. This retrospective observational study included infants who underwent FMA and brain MRI
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The Tangential Dialogue Between Science and Medicine: A Case in Point Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-24 N, i, n, a, , F, ., , S, c, h, o, r, , M, D, , P, h, D
The road between a hypothesis about a disease or condition and its cure or palliation is never simply linear. There are many tantalizing tangents to be chased and many seemingly obvious truths with countless exceptions; this is usually a feature, not a bug, as they say in computer programming. In the tangents and exceptions are clues and alternative roads to science and medicine that can provide cures
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Autoimmune Basal Ganglia Encephalitis Associated With Anti-N-methyl-d-Aspartate Receptor Antibodies in Children Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-17 Weihua Zhang MD, Changhong Ren MD, Yun Wu MD
Abstract not available
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Evaluation of Quantitative Pupillometry in Acute Postinjury Pediatric Concussion Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-14 Theodore Heyming MD, Chloe Knudsen-Robbins MD, John Schomberg PhD, Jennifer Hayakawa DNP, Bryan Lara BA, Kellie Bacon MPH, Brooke Valdez MS, Maxwell Wickens BA, Shelby K. Shelton MPH, Jonathan Romain PhD, Elizabeth Wallace MPH, Sharief Taraman MD, William Loudon MD, Rachel Pearson MD
Although millions of children sustain concussions each year, a rapid and objective test for concussion has remained elusive. The aim of this study was to investigate quantitative pupillometry in pediatric patients in the acute, postinjury setting. This was a prospective case-control study of concussed patients presenting to the emergency department within 72 hours of injury. Pupillary measurements
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Pediatric Ocular Myasthenia Gravis: Single-Center Experience Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-12 Miriam Kessi MD PhD, Yulin Tang MD, Baiyu Chen MD PhD, Guoli Wang MD PhD, Ciliu Zhang MD PhD, Fang He MD PhD, Jing Peng MD PhD, Fei Yin MD PhD, Lifen Yang MD PhD
Currently, there is no universally accepted standard treatment for ocular myasthenia gravis (OMG) in children. We aimed to investigate the possible proper regimens and timing of treatment for pediatric OMG cases based on the clinical manifestations: OMG with ptosis only and OMG with other features. One hundred and forty two OMG cases attended at the Department of Pediatrics, Xiangya Hospital, Central
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Microstructural White Matter Abnormalities in Children and Adolescents With Narcolepsy Type 1 Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Marita Hovi MD, Ulrika Roine MD PhD, Taina Autti MD PhD, Hannu Heiskala MD PhD, Timo Roine MD PhD, Turkka Kirjavainen MD PhD
In 2010, the H1N1 Pandemrix vaccination campaign was followed by a sudden increase in narcolepsy type 1 (NT1). We investigated the brain white matter microstructure in children with onset of NT1 within two years after the Pandemrix vaccination. We performed diffusion-weighted magnetic resonance imaging (MRI) on 19 children and adolescents with NT1 and 19 healthy controls. Imaging was performed at a
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Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Diego López Gutierrez MD, Ingrid Luna López MD, Blanca Ameyalli Medina Mata MD, Sebastián Moreno Castro MD, Fernanda Yerai García Rangel MD
Moebius syndrome (MBS) is a congenital cranial dysinnervation disorder (CCDD) characterized by a bilateral palsy of abducens and facial cranial nerves, which may coexist with other cranial nerves palsies, mostly those found in the dorsal pons and medulla oblongata. MBS is considered a “rare” disease, occurring in only 1:50,000 to 1:500,000 live births, with no gender predominance. Three independent
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Epilepsy Incidence and Developmental Outcomes After Early Discontinuation of Antiseizure Medication in Neonatal Hypoxic-Ischemic Encephalopathy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Spoorthi Jagadish MBBS, Theresa Marie Czech MD, M. Bridget Zimmerman PhD, Joseph Glykys MD PhD
Neonatal seizures caused by hypoxic-ischemic encephalopathy (HIE) have significant morbidity and mortality. There is variability in clinical practice regarding treatment duration with antiseizure medication (ASM) after resolution of provoked neonatal seizures. We examined epilepsy incidence and developmental outcomes in post-HIE neonates discharged or not on ASM. We conducted a retrospective chart
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Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Liang Tang Master's Degree in Pediatrics, Mengwen Pan Master's Degree in Pediatrics, Fan Wu PhD
To systematically evaluate the diagnostic accuracy of the creatine kinase isoenzyme-MM (CK-MM) test in newborn screening for Duchenne muscular dystrophy (DMD). A comprehensive literature search was conducted up to October 31, 2022, in PubMed, Embase, Cochrane Library, Web of Science, and Scopus Database. To evaluate the diagnostic value, the sensitivity (SEN), specificity (SPE), positive likelihood
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Retinal and Choroidal Vascularity Evaluation in Pediatric Radiologically Isolated Syndrome and Multiple Sclerosis Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Büşra Yılmaz Tuğan MD, Sena Destan Bünül MD, Bülent Kara MD, Defne Alikılıç MD, Levent Karabaş MD, Hüsnü Efendi MD, Nurşen Yüksel MD
To assess vessel density (VD) and flow of retinal plexuses and peripapillary region related with the pediatric radiologically isolated syndrome (RIS) and multiple sclerosis (MS). We analyzed 24 eyes of 12 participants with the diagnosis of RIS, 24 eyes of 12 participants with the diagnosis of MS, and 26 eyes of 13 age- and sex-matched healthy controls in this prospective, cross-sectional study. The
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Facial Function in Bell Palsy in a Cohort of Children Randomized to Prednisolone or Placebo 12 Months After Diagnosis Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Franz E. Babl MD, David Herd MBBS, Meredith L. Borland MBBS, Amit Kochar MD, Ben Lawton MBChB, Jason Hort MBBS, Adam West MHSM, Shane George MBBS, Ed Oakley MBBS, Catherine L. Wilson MPH, Sandy M. Hopper MBBS, John A. Cheek MBBS, Stephen Hearps MBiostat, Mark T. Mackay PhD, Stuart R. Dalziel PhD, Katherine J. Lee PhD
Information on the medium-term recovery of children with Bell palsy or acute idiopathic lower motor neuron facial paralysis is limited. We followed up children aged 6 months to <18 years with Bell palsy for 12 months after completion of a randomized trial on the use of prednisolone. We assessed facial function using the clinician-administered House-Brackmann scale and the modified parent-administered
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A Systematic Review and Clinical Presentation of Central Nervous System Complications of Severe Acute Respiratory Syndrome Coronavirus 2 in Hospitalized Pediatric Patients During the Coronavirus Disease 2019 Pandemic in Israel Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-11 Menucha Jurkowicz, Eugene Leibovitz, Bruria Ben-Zeev, Nathan Keller, Or Kriger, Gilad Sherman, Sharon Amit, Galia Barkai, Michal Mandelboim, Michal Stein
Coronavirus disease-associated central nervous system complications (CNS-C) in hospitalized children, especially during the Omicron wave, and in comparison with influenza associated CNS-C, are not well understood. The study population included 755 children aged <18 years hospitalized with laboratory-confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) at Sheba Medical Center, during
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Reducing Time to EEG in Pediatric Convulsive Status Epilepticus: A Quality Improvement Initiative Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-08 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
Background and Purpose 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
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Ferritin as an Effective Predictor of Neurologic outcomes in Children With Acute Necrotizing Encephalopathy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-06 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
Background 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. Methods All patients with ANE had multiple symmetrical lesions located in the bilateral thalami and other
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Sleep and the Social Profiles of Individuals With Rett Syndrome Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-08 Xinyan Zhang, Marcel Smits, Leopold Curfs, Karen Spruyt
Background This study investigates the distinctive social behaviors observed in individuals with Rett syndrome (RTT), characterized by the loss of spoken language, impaired eye gaze communication, gait abnormalities, and sleep issues. The research aims to identify social profiles in RTT and explore their correlation with sleep, sleep-disordered breathing (SDB), and daytime sleepiness. Methods Standard
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A retrospective review of 18 patients with childhood-onset hereditary spastic paraplegia, nine with novel variants Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-06 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
Background 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.
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A novel homozygous deletion including exon 1 of FA2H gene cause spastic paraplegia-35: genetic and lipidomics analysis of the patients Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-05 Lidangzhi Mo, Xiaoling Tie, Fengyu Che, Liyu Zhang, Benchang Li, Guoxia Wang, Ying Yang
Objective 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 non-consanguineous Chinese family diagnosed with SPG35 by examining the clinical manifestations, scrutinizing genetic variants and establishing the role of FA2H mutation in lipid metabolism
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Concurrent Developmental Regression and Neurocognitive Decline in a Child with de novo CHD8 Gene Mutation Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-05 Kyung Eun Paik, GenaLynne C. Mooneyham
Background 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
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Characteristics of Opsoclonus–Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-05 Michelle Silva Zeny, Daniel Almeida do Valle, Mara Lúcia Schmitz Ferreira Santos, Tiago S. Bara, Mara L. Cordeiro
Background 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. Methods We analyzed the data of patients diagnosed with OMS between 2010 and
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Isolated intracranial hypertension as a presentation of pediatric Lyme borreliosis: a case report and literature review Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-02 Jeffrey M. Mah, Cody Lo, Michael D. O’Connor
Background It is extremely rare for Lyme borreliosis to present solely with features of increased intracranial pressure. The treatment of pediatric Lyme neuroborreliosis with oral versus intravenous antibiotics remains controversial. Case A 13-year-old male presented with 5 days of binocular diplopia, several weeks of headache, and a history of multiple tick bites 6 weeks prior. His exam showed a left
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A Study of General Movement Assessment and Its Association With Neurodevelopmental Outcome at Age 12 to 15 Months Among Term Neonates With Hyperbilirubinemia Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-05 Nagaratna Vallamkonda MBBS PhD, Tapas Bandyopadhyay MD DM (Neonatology), Arti Maria MD DM (Neonatology)
To determine the association between optimality score at term age and age three to five months and neurodevelopmental outcome among neonates with hyperbilirubinemia. Fifty infants with and without hyperbilirubinemia were enrolled. The motor repertoires of the infants were evaluated through general movement assessment (GMA) at term age and three to five months post-term. The association between the
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Risk Factors for Massive Cerebral Infarction in Pediatric Patients With Moyamoya Disease Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-05 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
To explore the risk factors for preoperative massive cerebral infarction (MCI) in pediatric patients with moyamoya disease (MMD). Pediatric patients with MMD treated between 2017 and 2022 were enrolled. Logistic regression analysis was performed to identify risk factors for MCI among the patients, and a nomogram was constructed to identify potential predictors of MCI. Receiver operating characteristic
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Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular Dystrophy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-05 Jerry R. Mendell MD, Crystal Proud MD, Craig M. Zaidman MD, Stefanie Mason MD, Eddie Darton MD, Shufang Wang PhD, Christoph Wandel MD PhD, Alexander P. Murphy MD PhD, Eugenio Mercuri MD PhD, Francesco Muntoni MD, Craig M. McDonald MD
Delandistrogene moxeparvovec is a gene transfer therapy approved in the United States, United Arab Emirates, and Qatar for the treatment of ambulatory patients aged four through five years with a confirmed Duchenne muscular dystrophy (DMD)-causing mutation in the gene. This therapy was developed to address the underlying cause of DMD through targeted skeletal, respiratory, and cardiac muscle expression
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A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-03 Beril Dilber, Esra Serdaroğlu, Seda Kanmaz, Betül Kılıç, Rojan İpek, Deniz Kargın Menderes, Nihal Yıldız, Yasemin Topçu, Ebru Petek Arhan, Ayşe Serdaroğlu, Çetin Okuyaz, Kürşad Aydın, Hasan Tekgül, Ali Cansu
Background There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings. Methods In this multicenter study, the study cohort consisted of 604 children with
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Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-03 Lekshmi S. Nair, Jamal Mohammed Nurul Jain, Ashwin Dalal, Prajnya Ranganath
Background White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few studies pertaining to the etiologic spectrum of these disorders in the Asian Indian population. Methods This study was conducted over a period of five years from January 2016 to December 2020, in the medical genetics department of a tertiary
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Frequency of Cerebellar Abnormalities Associated With the Differing Magnetic Resonance Imaging Patterns of Term Hypoxic-Ischemic Injury in Children Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-01 Shyam Sunder B. Venkatakrishna, Parth Sharma, Luis Octavio Tierradentro-Garcia, Mohamed Elsingergy, Fikadu Worede, Jelena Curic, Cesar Augusto P. Alves, Savvas Andronikou
Background We aimed to determine the frequency of cerebellar injury using delayed magnetic resonance imaging (MRI) in children with cerebral palsy, diagnosed with term hypoxic-ischemic injury (HII), and to characterize this for the different MRI patterns of HII. Methods We retrospectively reviewed delayed MRI scans in children with cerebral palsy, of whom 1175 had term HII. The pattern of HII was classified
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The Papilledema Dilemma: Myopic Pseudopapilledema From Peripapillary Hyper-Reflective Ovoid Mass-like Structures Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-01 Bryan Sim, Dan Milea
Abstract not available
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A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-01 Brooke M. Marvel, Linsley Smith, Jonathan J. Rios, Michelle R. Christie
Background HSP is a heterogeneous group of rare genetic diseases. In childhood, little is known of the development and psychological manifestations. Methods Retrospective analysis of 87 patients with childhood-onset HSP. Patient consent was obtained and data regarding gross motor, fine motor, and language development; equipment usage; surgical procedures; cognition; and mood were collected at each
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Accelerated Course of Cerebral Adrenoleukodystrophy After Coronavirus Disease 2019 Infection Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-01 Qiu-Hong Wang, Jing Wang, Yang-Yang Wang, Wen He, Chen Feng, Jing Gao, Qian Lu, Yi Wang, Shuo Dun, Qi Zhang, Li-Ping Zou
Background Coronavirus disease 2019 (COVID-19) can not only infect the respiratory system but also affect the nervous system through the release of inflammatory factors. Our study aimed to investigate the effect of COVID-19 infection on cerebral adrenoleukodystrophy (ALD). Methods Changes in the neurological symptoms of cerebral ALD after infection with COVID-19 from January 2022 to February 2023 were
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Three-Dimensional Upper Limb Movement Analysis in Children and Adolescents With Brachial Plexus Birth Injury: A Systematic Review Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-01 Laura Le Roy MS, Anke van Bladel PhD, Sophie De Mits PhD, Luc Vanden Bossche MD PhD, Ruth Van der Looven MD PhD
To synthesize the current evidence on clinical use of three-dimensional upper limb movement analysis (3D-ULMA) in children and adolescents with brachial plexus birth injury (BPBI). MEDLINE, Embase, and Web of Science were searched for relevant studies up to April 2022. An automatic e-mail alert was installed to ensure no eligible article was missed. Articles evaluating 3D-ULMA in children and adolescents
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Acute Flaccid Paralysis, Seizures, and Encephalopathy in a Pediatric Patient With Influenza A and Coronavirus Disease 2019 Infection Pediatr. Neurol. (IF 3.8) Pub Date : 2024-01-01 Natalie Sloof, Christopher Donald Hue, Craig Campbell, Michelle A. Barton, Maryam Nabavi Nouri
Abstract not available