Pediatric Neurology

BACKGROUND: Pathogenic variants in the NDUFV1 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 NDUFV1-related disorders while adding the largest cohort from a single center to the existing literature. METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature...

BACKGROUND: 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. METHODS: A six-month cross-sectional study was conducted at the PED of Alexandria University Children's Hospital, including all children with headaches. Children were classified as having primary headache (PH), secondary benign headache (SBH), and secondary serious headache (SSH) according to predetermined criteria...

BACKGROUND: 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 risk factors. METHODS: Retrospective cohort study of pediatric patients registered in the University of Florida (UF) Society of Thoracic Surgeons Congenital Heart Surgery database from 2006 to 2017 with a diagnosis of CHD who continued follow-up for more than two years at UF...

BACKGROUND: 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. METHODS: 723 participants in the TAAICG dataset aged ≤21 years were included. The relationships between tic-related outcomes and race and ethnicity were examined using linear and logistic regressions...

BACKGROUND: Mutations in the CLN6 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) CLN6 disease. METHODS: We analyzed the natural history of 25 patients with late-infantile-onset CLN6, utilizing the Hamburg motor-language scale to measure disease progression...

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BACKGROUND: 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. METHODS: 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 outcome, i.e., death or neurodevelopmental impairment (NDI), was determined at age two years by a standardized neurological examination, Bayley Scales of Infant Development, Third Edition (BSID-III), and the Gross Motor Function Classification Scales...

BACKGROUND: 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. METHODS: 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 re-reviewed all neuroimages, and the average of their assessments was compared with the initial neuroimaging reports; an additional review was done to analyze inter- and intraclass correlation...

BACKGROUND: 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. METHODS: Using QI methodology outlined by the Institute for Healthcare Improvement, this study implemented the PedsQL Generic Core (4...

BACKGROUND: 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 risk factors. METHODS: This cohort study used data from the National Health Insurance Research Database in Taiwan-a nationwide claims database covering >99% of the Taiwanese population...

BACKGROUND: 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. METHODS: During the last 24 years we recruited 223 patients with early-onset hereditary peripheral neuropathies (EOHPN), negative for PMP22 duplication, 72 of them referred by a specialized pediatric hospital...

BACKGROUND: 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. METHODS: This case series contributes data to quantify vestibular dysfunction in postoperative CMS. The pair consisted of one female and one male...

OBJECTIVE: To investigate the association between the presence and severity of seizures in asphyxiated newborns and their neurodevelopmental outcome at ages two and five years. METHODS: 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 electroencephalography (EEG) and raw EEG signal reading up to 48 hours after rewarming...

BACKGROUND: 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 MS (POMS) and pediatric AQP4-NMOSD. Here we compare the rates of LME in children with MOGAD, POMS, and AQP4-NMOSD...

BACKGROUND: 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. METHODS: We conducted a systematic literature search using placental transfusion, preterm infant, and its synonyms as search terms. Cochrane Central Register of Controlled Trials, Medline, and Embase were searched until March 07, 2023...

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 platforms to personalize treatments because of their specificity, ease of design, versatility, and cost. However, many such approaches remain in the early stages of development, with ongoing efforts to optimize editing efficiency, minimize unintended off-target effects, and mitigate pathologic immune responses...

BACKGROUND: 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. METHODS: This retrospective observational study included infants who underwent FMA and brain MRI at age nine to 20 weeks at Children's Hospital, Zhejiang University School of Medicine, between March 2018 and September 2019...

BACKGROUND: 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 the etiology, severity, and topographic distribution of CP in children undergoing orthopedic surgery at our tertiary pediatric unit...

BACKGROUND: 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. METHODS: The PubMed database was systematically searched to identify genes associated with CP. The clinical characteristics accompanying these genetic forms of CP were compared with published data of large CP populations resulting in the identification of potential indicators of genetic CP...

BACKGROUND: 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. METHODS: One hundred and forty two OMG cases attended at the Department of Pediatrics, Xiangya Hospital, Central South University, from 2010 to 2019 were included, and information from medical records was reviewed and recorded...