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Febrile Seizures: A Systematic Review of Different Guidelines Pediatr. Neurol. (IF 3.8) Pub Date : 2024-04-03 Antonio Corsello MD, Maria Beatrice Marangoni MD, Marina Macchi MD, Laura Cozzi MD, Carlo Agostoni MD PhD, Gregorio Paolo Milani MD, Robertino Dilena MD
Febrile seizures (FS) are the most common neurological disorder in pediatric age. FS affect 2% to 12% of children and result from a complex interplay of genetic and environmental factors. Effective management and unambiguous recommendations are crucial for allocating health care resources efficiently and ensuring cost-effectiveness in treating FS. This systematic review compares existing guidelines
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Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-26 Jasper E. Visser MD PhD, Odelia Chorin MD, H.A. Jinnah MD PhD
In Lesch-Nyhan disease (LND), early dopamine deficiency is thought to contribute to dystonia and self-injury, gradually developing over the first years of life. Previous attempts to restore dopamine levels in older patients have been unsuccessful. Based on the hypothesis that dopamine replacement can full phenotypic development, we treated three patients with LND from infancy with levodopa. Levodopa/carbidopa
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A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-26 Cemal Karakas MD, Isabella Herman MD PhD, Stephen F. Kralik MD, Troy A. Webber PhD, Danielle S. Takacs MD, Saleh Bhar MD, Davut Pehlivan MD
To analyze the clinical and neuroimaging features, risk factors, treatment choices, and long-term clinical outcomes in children with cerebral sinus venous thrombosis (CSVT). This is a retrospective cohort study of children diagnosed with CSVT between 2002 and 2018 at Texas Children's Hospital. A total of 183 children (male: 62.3%) with CSVT were included. The average presenting age was 7.7 years (S
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Relationship Between Postural Asymmetry, Balance, and Pain in Children With Spastic Cerebral Palsy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-24 Zahra Shekari MSc, Razieh Sadeghian Afarani MSc, Saeid Fatorehchy PhD, Enayatollah Bakhshi PhD, Soheila Shahshahani PhD, Elahe Mousavi MSc
Primary symptoms of cerebral palsy (CP), such as spasm and weakness, can lead to secondary musculoskeletal problems. Exploring the interplay and impact of secondary symptoms is essential in CP management. A total of 56 children (32 males and 24 females) aged eight to 12 years in level I to III of Gross Motor Function Classification System (GMFCS) completed The Pediatric Balance Scale and Wong-Baker
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Underlying Disorders in Children With Infection-Related Acute Encephalopathy Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-22 Tomohiko Nakata MD PhD, Jun Natsume MD PhD, Hiroyuki Yamamoto MD PhD, Yuji Ito MD PhD, Takeshi Suzuki MD PhD, Masahiro Kawaguchi MD PhD, Anna Shiraki MD, Sumire Kumai MD, Fumi Sawamura MD, Ryosuke Suzui MD, Takamasa Mitsumatsu MD, Hajime Narita MD, Takeshi Tsuji MD PhD, Tetsuo Kubota MD PhD, Shinji Saitoh MD PhD, Akihisa Okumura MD PhD, Hiroyuki Kidokoro MD PhD
Various factors contribute to the development of infection-related acute encephalopathy (AE) in children, such as infectious agents and chronic underlying disorders. We studied underlying disorders in children with AE to identify predisposing factors of AE. We investigated underlying disorders or past histories in patients with two types of AE from the database in the Tokai area of Japan between 2009
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Symptom Severity and Health Impacts of Functional Tic-Like Behaviors in Youth Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-22 Lindsay Berg BSc, Davide Martino MD PhD, Z. Paige L'Erario MD, Tamara Pringsheim MD
We performed this study to improve understanding of the relationship between functional tic-like behaviors (FTLBs) and quality of life, loneliness, family functioning, anxiety, depression, and suicidality. This cross-sectional study assessed self-reported quality of life, disability, loneliness, depression, anxiety, family functioning, tic severity, and suicide risk in age- and birth-sex matched youth
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Measurement of Developmental and Behavioral Concerns in Toddlers With Tuberous Sclerosis Complex Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-22 Nicole M. McDonald PhD, Sydney Jacobs BS, Carly Hyde MS, Connie Kasari PhD, Shafali S. Jeste MD
The TAND (Tuberous Sclerosis Complex [TSC]-Associated Neuropsychiatric Disorders) Checklist was developed as a clinical screener for neurodevelopmental disorders in TSC. Most studies have described patterns in older children and adults. This study sought to better understand behavioral concerns as measured by the TAND Checklist in young children with TSC. We examined patterns of caregiver responses
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De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-22 Lauren A. Beslow MD MSCE, Timo Krings MD PhD, Helen Kim MPH PhD, Steven W. Hetts MD, Michael T. Lawton MD, Felix Ratjen MD, Kevin J. Whitehead MD, James R. Gossage MD, Charles E. McCulloch PhD MS MA, Marianne Clancy RDH MPA, Negar Bagheri MSc BSc, Marie E. Faughnan MD MSc, Brain Vascular Malformation Consortium HHT Investigator Group, Mary E. Atherton, Murali M. Chakinala, Marianne S. Clancy, Marie
Approximately 10% of people with hereditary hemorrhagic telangiectasia (HHT) have brain vascular malformations (VMs). Few reports describe brain VM formation. International HHT Guidelines recommend initial brain VM screening upon HHT diagnosis in children but do not address rescreening. We aimed to confirm whether brain VMs can form in patients with HHT. The Brain Vascular Malformation Consortium HHT
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Risk Factors for Term-Born Spastic Diplegic Cerebral Palsy: A Case-Control Study Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-20 Amaar Marefi MD, Nafisa Husein MSc, Mary Dunbar MD, Deborah Dewey PhD, Nicole Letourneau PhD RN, Maryam Oskoui MDCM, Adam Kirton MD, Michael Shevell MDCM, Members of Canadian CP Registry, John Andersen MD, David Buckley MD, Darcy Fehlings MD, Lee Burkholder MD, Louise Koclas MD, Ram Mishal MD, Nicole Pigeon MD, Ellen Wood MD
To identify if a predetermined set of potential risk factors are associated with spastic diplegic cerebral palsy (SDCP) in term-born children. This is a case-control study with cases (n = 134) extracted from the Canadian Cerebral Palsy Registry (CCPR) and controls (n = 1950) from the Alberta Pregnancy Outcomes and Nutrition (APrON) study. Our primary variable was the SDCP phenotype in term-born children
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Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-16 Marija Babunovska MD, Tatjana Cepreganova Cangovska MD PhD, Igor Kuzmanovski MD PhD, Predrag Noveski PhD, Dijana Plaseska-Karanfilska MD PhD, Emilija Cvetkovska MD PhD
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Accuracy of Early Neuroprognostication in Pediatric Severe Traumatic Brain Injury Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-16 Varun Sampat MD, John Whitinger IV MD, Katherine Flynn-O'Brien MD, Irene Kim MD, Binod Balakrishnan MD, Niyati Mehta MD, Rachel Sawdy APNP, Namrata D. Patel MD MS, Rupa Nallamothu MBBS, Liyun Zhang MS, Ke Yan PhD, Kimberley Zvara MD, Raquel Farias-Moeller MD
Children with severe traumatic brain injury (sTBI) are at risk for neurological sequelae impacting function. Clinicians are tasked with neuroprognostication to assist in decision-making. We describe a single-center study assessing clinicians’ neuroprognostication accuracy. Clinicians of various specialties caring for children with sTBI were asked to predict their patients' functioning three to six
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Pediatric Reversible Cerebral Vasoconstriction Syndrome/Posterior Encephalopathy Syndrome/Poststreptococcal Glomerulonephritis Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-16 Yuki Kawashima MD, Shohei Ariji MD, Rui Aoyagi MD, Masahiro Noda MD, Kunihiro Oba MD PhD, Masashi Ogasawara MD PhD
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-14 Carmen Palma-Milla PhD, Aina Prat-Planas MSc, Emma Soengas-Gonda MSc, Mónica Centeno-Pla MSc, Jaime Sánchez-Pozo MD, Irene Lazaro-Rodriguez MD, Juan F. Quesada-Espinosa MSc, Ana Arteche-Lopez PhD, Jonathan Olival PhD, Marta Pacio-Miguez MSc, María Palomares-Bralo PhD, Fernando Santos-Simarro MD PhD, Ramón Cancho-Candela MD PhD, María Vázquez-López MD PhD, Veronica Seidel MD MSc, Antonio F. Martinez-Monseny
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Retrospective Multicenter Cohort Study on Safety and Electroencephalographic Response to Lacosamide for Neonatal Seizures Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-13 Moninder Kaur MVSc, Levon Utidjian MD MBI, Nicholas S. Abend MD MSCE, Kimberley Dickinson BS, Robert Roebling MD, Jill McDonald MA, Mitchell G. Maltenfort PhD, Nadia Foskett MD PhD, Sami Elmoufti MSc, Rejean M. Guerriero DO, Badal G. Jain MD, Nathan M. Pajor MD, Suchitra Rao MD, Renée A. Shellhaas MD MS, Laurel Slaughter MD, Christopher B. Forrest MD PhD
There is growing evidence supporting the safety and effectiveness of lacosamide in older children. However, minimal data are available for neonates. We aimed to determine the incidence of adverse events associated with lacosamide use and explore the electroencephalographic seizure response to lacosamide in neonates. A retrospective cohort study was conducted using data from seven pediatric hospitals
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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 MD, Nobuhiko Ochi MD, Yuji Ito MD PhD, Tadashi Ito PhD, Hajime Narita MD, Koji Noritake MD, Hiroyuki Kidokoro MD PhD, Jun Natsume MD PhD
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 Siblings With Wilson Disease Manifesting Striking Clinical Heterogeneity: An Exome Profiling Study of Two Indian Families Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-08 Arpan Saha MSc, Shristi Das MSc, Samragni De MSc, Tithi Dutta MSc, Shubhrajit Roy PhD, Atanu Biswas MD DM, Mainak Sengupta PhD
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 mutations, including in siblings. This phenomenon may be caused by individual differences in copper accumulation in hepatocytes and intolerance to copper toxicity as governed by genetic
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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 MD, Abdulrahim M. Hamhom MD, Ali Al-Otaibi MD, Malak AlGhamdi MD, Yousef Housawi MD, Yaser I. Aljadhai MD, Seham Alameer MD, Mohammed Almannai MD, Lamyaa A. Jad MD, Ali H. Alwadei MD, Sadia Tabassum MD, Abdulaziz Alsaman MD, Ali AlAsmari MD, Fuad Al Mutairi MD, Hamad Althiyab MD, Fahad A. Bashiri MD, Suzan AlHumaidi MD, Majid Alfadhel MD, Jonathan W. Mink MD PhD, Aqeela AlHashim MD
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 patients with NCL (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 MD, Xiaolei Li MD, Yuanxin Huang MD, Kailing Huang MD, Bo Xiao PhD, Yunfang Chi MD, Li Feng PhD, Haojun Yang PhD
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 and 121
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Congenital Cytomegalovirus Infection With Isolated “Minor” Lesions at Fetal Magnetic Resonance 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
The prognostic relevance of fetal/early postnatal magnetic resonance (MR) imaging (MRI) isolated “minor” lesions in congenital cytomegalovirus (CMV) infection is still unclear, because of the 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
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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 MD, Halil Çelik MD
The aim of this 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 two to 18 years being followed up for epilepsy were assessed using the Children's Sleep Habits Questionnaire (CSHQ) and the Pediatric Quality of Life Inventory (PedsQL). Pearson or Spearman correlation analysis was performed
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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 MD, Puneet Kumar Choudhary DM, Gautam Kamila DM, Aradhana Rohil MD, Ankit Kumar Meena DM, Atin Kumar MD, Prashant Jauhari DM, Biswaroop Chakrabarty DM, Sheffali Gulati MD
Pathogenic variants in the gene disrupt mitochondrial complex I, leading to neuroregression 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
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Clinical Characteristics and Appropriateness of Investigations in Children With Headaches at the Emergency Department Pediatr. Neurol. (IF 3.8) Pub Date : 2024-03-05 Hanan Azouz MD PhD, Wafaa Muhammed MSc, Marwa Abd Elmaksoud MD PhD
Identifying the cause of headaches in pediatric emergency departments (PEDs) can be challenging due to the lack of comprehensive research. This study aims to identify the frequency, characteristics, and unnecessary diagnostic procedures of patients with headaches in the PED setting. A six-month cross-sectional study was conducted at the PED of Alexandria University Children's Hospital, including all
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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 MD MSCR, Samuel J. Carr MS, Angela Essa MD, Lisa Osiecki BA, Daniel T. Lackland DrPH, Jenifer H. Voeks PhD, Nicte I. Mejia MD MPH, Nutan Sharma MD PhD, Cathy L. Budman MD, Danielle C. Cath MD PhD, Marco A. Grados MD MPH, Robert A. King MD, Gholson J. Lyon MD PhD, Guy A. Rouleau MD PhD, Paul Sandor MD, Harvey S. Singer MD, Lori B. Chibnik PhD MPH, Carol A. Mathews MD, Jeremiah
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 (TAAICG) database. 723 participants in the TAAICG dataset aged ≤21 years were included. The relationships between tic-related outcomes and race and ethnicity were examined
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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 MD, Ing Grace Lien BS, Kerstin Martinez BS, Tracy Lin BS, Mark S. Bleiweis MD, Joseph Philip MD, Lori C. Jordan MD PhD, Steven G. Pavlakis MD
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 MD, Ines Noher de Halac PhD, Shawn C. Aylward MD, Vedat Yildiz MS, Bianca Zapanta DO, Nicolas Abreu MD, Emily de los Reyes MD
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 (age less than five years) disease. We analyzed
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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 MD, Sarah E. Monsell MS, Marie-Coralie Cornet MD, Jessica L. Wisnowski PhD, Robert C. McKinstry MD PhD, Amit M. Mathur MD, Yi Li MD, Hannah C. Glass MD MAS, Fernando F. Gonzalez MD, Dennis E. Mayock MD, Kristen L. Benninger MD, Krisa P. Van Meurs MD, Andrea L. Lampland MD, Tai-Wei Wu MD, David Riley MD, Ulrike Mietzsch MD, Lina Chalak MD MSCS, John Flibotte MD, Joern-Hendrick Weitkamp
Infants with hypoxic ischemic encephalopathy (HIE) may have underlying conditions predisposing them to hypoxic-ischemic injury during labor and delivery. It is unclear how genetic and congenital anomalies impact outcomes of HIE. Infants with HIE enrolled in a phase III trial underwent genetic testing when clinically indicated. Infants with known genetic or congenital anomalies were excluded. The primary
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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 MSW, Pedro Weisleder MD PhD, Anup D. Patel MD, William Parker MHA CPHQ, Megan Rose MPH MS, Catherine Butz PhD
Tic disorders in children often co-occur with other disorders that can significantly impact functioning. Screening for quality of life (QoL) can help identify optimal treatment paths. This quality improvement (QI) study describes implementation of a QoL measure in a busy neurology clinic to help guide psychological intervention for patients with tics. Using QI methodology outlined by the Institute
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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 PhD, Clarissa Ponti MD, Alessia Mammi BSc, Serena Patrone PhD, Fabio Gotta MD, Lucia Trevisan MD, Francesca Sanguineri MD, Paola Origone PhD, Andrea Gaudio BSc, Andrea La Barbera BSc, Matteo Cataldi MD, Chiara Gemelli MD PhD, Sara Massucco MD, Angelo Schenone MD PhD, Paola Lanteri MD PhD, Chiara Fiorillo MD PhD, Marina Grandis MD PhD, Paola Mandich MD PhD, Emilia Bellone PhD
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although 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.