Pediatric Neurology

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BACKGROUND: The Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is known to be more infectious and less severe than the other variants. Despite the increasing number of symptomatic patients, severe neurological complications in children with the Omicron variant have been reported rarely, unlike with wild-type or Delta variants. This study aimed to investigate severe neurological complications in children with Omicron variant infection. METHODS: We conducted a retrospective study of 17 pediatric patients with severe neurological manifestations associated with coronavirus disease 2019 in Korea during the Omicron variant prevalence, from January 1 to April 30, 2022...

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BACKGROUND: Research on disorders of consciousness in children is scarce and includes disparate and barely comparable participants and assessment instruments and therefore provides inconclusive information on the clinical progress and recovery in this population. This study retrospectively investigated the neurobehavioral progress and the signs of transition between states of consciousness in a group of children admitted to a rehabilitation program either with an unresponsive wakefulness syndrome (UWS) or in a minimally conscious state (MCS)...

BACKGROUND: SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is a rare genetic disorder linked to autism spectrum disorder, epilepsy, and developmental delay. In preparation for future clinical trials, understanding how the disorder impacts patients and their families is critically important. Quality-of-life (QoL) measures capture the overall disease experience of patients. This study presents QOL findings from our SLC6A1-NDD clinical trial readiness study and the Simons Searchlight SLC6A1-NDD registry...

BACKGROUND: Our team designed an innovative, observation-based motor impairment measure-the Pediatric Stroke Hemiplegic Motor Impairment Scale (Pedi HEMIs). Here we present the results of a survey describing common practices in the pediatric stroke community and the initial psychometric properties of the upper extremity subscale of the Pedi HEMIs (Pedi HEMIs-UE). METHODS: This is a cross-sectional study whereby participants completed a battery of assessments including the novel Pedi HEMIs-UE...

BACKGROUND: Functional tic disorders are among the least common functional movement disorders, but their prevalence rose during the coronavirus disease 2019 (COVID-19) pandemic. Although female adolescents develop functional neurological disorders at higher rates than males, investigations into sexual orientation and gender identity (SOGI) status of these patients are limited. METHODS: We completed a retrospective, cross-sectional time series examining the incidence of new-onset functional tic disorders in youth presenting to the Massachusetts General Hospital Movement Disorder clinics before and during the COVID-19 pandemic...

BACKGROUND: Recurrent simple febrile seizure (SFS) refers to febrile seizure (FS) that recurs within 24 hours. Patients with recurrent SFS often undergo unnecessary neurodiagnostic tests. To address this, we compared the clinical characteristics of recurrent SFS with those of SFS and investigated the risk factors associated with recurrent SFS. METHODS: We retrospectively reviewed electronic medical records of patients aged six to 60 months who had been hospitalized for FS at two training hospitals between January 2016 and December 2019...

BACKGROUND: Despite extensive research on Guillain-Barré syndrome (GBS) in adults and children, there is a lack of comparison regarding short-term outcomes in various age groups. Our study aims to elucidate the differences in clinical features and short-term outcomes in Vietnam. METHODS: After retrospective data collection, we compared clinical features in patients with GBS aged ≤16 years at Children's Hospital 2 and aged >16 years at University Medical Center Ho Chi Minh City from 2017 to 2021...

BACKGROUND: One of the most common causes of carpal tunnel syndrome (CTS) in childhood is mucopolysaccharidosis (MPS). While ultrasonography (US) can aid in the diagnosis of CTS in adult patients, there is limited experience of this in the pediatric group. We aimed to investigate the results of wrist ultrasonography, which may be a candidate alternative to electrophysiological examination. METHODS: The participants were evaluated for symptoms, physical examination findings, electrophysiological tests and grayscale US...

BACKGROUND: Current studies on the impact of sex in the prognosis of childhood arterial ischemic stroke (AIS) are limited. We aimed to explore the sex differences in outcomes in patients with childhood AIS. METHODS: A retrospective analysis was conducted using the prospective data from the Chinese Pediatric Ischemic Stroke Registry. Baseline characteristics between sexes were compared in the total population cohort, propensity score (PS)-matched cohort, and inverse probability of treatment weighting cohort...

BACKGROUND: 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. METHODS: This systematic review compares existing guidelines to provide insights into FS management. Seven guidelines published between 1991 and 2021, from Japan, United Kingdom, United States, Mexico, India, and Italy, were included...

BACKGROUND: 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 very early dopamine replacement can prevent full phenotypic development, we treated three patients with LND from infancy with levodopa. METHODS: Levodopa/carbidopa (4:1) was started at age 11 to 13 months, aiming at escalating to 5 to 6 mg/kg levodopa per day...

BACKGROUND: To analyze the clinical and neuroimaging features, risk factors, treatment choices, and long-term clinical outcomes in children with cerebral sinus venous thrombosis (CSVT). METHODS: This is a retrospective cohort study of children diagnosed with CSVT between 2002 and 2018 at Texas Children's Hospital. RESULTS: A total of 183 children (male: 62.3%) with CSVT were included. The average presenting age was 7.7 years (S.D.: 5...

BACKGROUND: Juvenile myasthenia gravis (JMG) is a rare autoimmune disease that causes fatigable muscle weakness in children aged <18 years. There is currently no curative treatment or internationally accepted standard of care for JMG. The objective is to investigate relationships between clinical presentation, antibody status, severity of disease onset, electrodiagnostic evaluation, and response to therapy in JMG. METHODS: This study was a retrospective chart review...

BACKGROUND: 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. METHODS: 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 Faces Scale and the Posture and Postural Ability Scale...

BACKGROUND: 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. METHODS: 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 and 2022: 204 patients with AE with reduced subcortical diffusion (AED) and 137 with clinically mild encephalopathy with a reversible splenial lesion (MERS)...

BACKGROUND: Approximately 10% of people with hereditary hemorrhagic telangiectasia (HHT) have brain vascular malformations (VMs). Few reports describe de novo 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 de novo in patients with HHT. METHODS: The Brain Vascular Malformation Consortium HHT project is a 17-center longitudinal study enrolling patients since 2010...

BACKGROUND: 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. METHOD: 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 with FTLBs, Tourette syndrome (TS), and neurotypical controls...

BACKGROUND: 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. METHODS: We examined patterns of caregiver responses to the TAND Checklist in 90 toddlers with TSC (12 to 23 months n = 60; 24 to 36 months n = 30) through data collected during baseline visits across two TSC early intervention studies...