Journal of Child Neurology最新文献

Background: This study aimed to investigate the effects of Video-Based Action Observation Training and Live Action Observation Training on motor function, activity participation, and secondary outcome measures in children with spastic diparetic cerebral palsy (CP).

Materials and methods: Thirty-nine children with spastic diparetic cerebral palsy, aged 5-14 years, with Gross Motor Function Classification System I-III, were distributed in equal numbers to any of the Video-Based Action Observation Training (conventional physiotherapy + Video-Based Action Observation Training), Live Action Observation Training (conventional physiotherapy + Live Action Observation Training), and control (conventional physiotherapy) groups through stratified randomization. For 8 weeks, action observation training groups received 20 minutes of conventional physiotherapy followed by 20 minutes of action observation training, and the control group received 40 minutes of conventional physiotherapy. Primary outcome measures were Gross Motor Function Measurement and Child and Adolescent Scale of Participation, secondary outcome measures were Pediatric Berg Balance Scale, timed-up-and-go test, five times sit-to-stand test (FTSST), Gillette Functional Assessment Questionnaire (GFAQ), and 1-minute walk test (1MWT).

Results: Improvements were observed in all other evaluation parameters of the groups except Gross Motor Function Measurement-lying and rolling (P = .066) in the Live Action Observation Training Group, and lying and rolling (P = .317) and crawling and kneeling (P = .063) motor subtests and Gillette Functional Assessment Questionnaire-walking scale (P = .513) in the control group. Comparisons of the increases in all other measurements between the groups, except for the dimensions of Gross Motor Function Measurement-lying and rolling (P = .172), were statistically significant (P < .05) and this difference was in favor of action observation training.

Conclusion: It was found that 2 different AOTs applied in addition to conventional physiotherapy in children with spastic diparetic cerebral palsy were more effective on all outcomes than was conventional physiotherapy alone.

This case report describes a rare instance of reflex seizures in a 4-year-old boy with a complex medical history, including total anomalous pulmonary venous connection and developmental disabilities. The patient experienced seizures triggered exclusively by a specific visual stimulus: the transition scene from the Disney castle to the Pixar lamp in Disney-Pixar movies. Video electroencephalography (EEG) revealed biparasagittal rhythmic delta waves and diffuse slowing, suggesting parietal involvement and complex cortical processing. The findings highlight the individualized nature of reflex epilepsy and highlight the need for a nuanced understanding of specific seizure triggers. Effective management included avoiding the identified visual stimulus and adjusting medication based on the patient's response. This case emphasizes the intricate relationship between sensory processing and epileptogenic mechanisms, contributing to our knowledge of cortical excitability and guiding targeted treatment strategies for reflex seizures.

Objective: Epilepsy surgery is vital in managing of children with drug-resistant epilepsy. Noninvasive and invasive testing modalities allow for evaluation and treatment of children with drug-resistant epilepsy. Evidence-based algorithms for this process do not exist. This study examines expert response to a vignette of pediatric nonlesional epilepsy to assess associations in evaluation and treatment choices.

Methods: We analyzed annual report data and an epilepsy practice survey reported in 2020 from 135 pediatric epilepsy center directors in the United States. Characteristics of centers along with noninvasive and invasive testing and surgical treatment strategies were collected. Multivariable logistic regression modeling was performed.

Results: The response rate was 100% with 135 responses included in the analyses. Most used noninvasive testing modalities included Neuropsychology evaluation (90%), interictal brain fluorodeoxyglucose-positron emission tomography (85%), and functional magnetic resonance imaging (MRI) (72%) with nearly half obtaining genetic testing. Choosing functional MRI was associated with stereo electroencephalography (EEG) (P = .025) and selecting Wada with subdural grid/strips (P = .038). Directors from pediatric-only centers were more likely to choose stereo EEG as opposed to combined centers (P = .042). Laser interstitial thermal therapy was almost 7 times as likely to be chosen as a treatment modality compared with open resection in dedicated pediatric centers (OR 6.96, P = .002).

Significance: In a vignette of nonlesional childhood drug-resistant epilepsy, epilepsy center directors' patterns of noninvasive testing, invasive testing, and treatment were examined. Management choices were associated with pediatric versus combined pediatric/adult center characteristics. Expert opinions demonstrated equipoise in evaluation and management of children with drug-resistant epilepsy and the need for evidence-based management strategies.

Lyme disease is a tick-borne infectious disease caused by the spirochete Borrelia burgdorferi. Voiding dysfunction is a rare manifestation of neuroborreliosis with only a few cases reported. Here we describe a case of a 6-year-old male child with an acute urinary retention, paraparesis, and voiding difficulty in whom neuroborreliosis was diagnosed through serologic tests for antibodies, Western blot testing confirmation and intrathecal antibody synthesis. Magnetic resonance imaging (MRI) of the spine led to the diagnosis of acute transverse myelitis and a urodynamic study demonstrated detrusor areflexia. He received a 4-week course of intravenous ceftriaxone (2 g/d). The patient has recovered from the paraparesis but still suffers from a neurogenic bladder.

The aim of study was to investigate whether CASP8 (CASPASE8) could be a biomarker for prognosis in neuroblastoma. The prognostic value of CASP8 was determined by analyzing CASP8 methylation status and gene expressions in the tumor tissues of 37 neuroblastoma patients. Bisulfite and quantitative multiplex-methylation-specific polymerase chain reaction (PCR) were used to identify the methylation status. CASP8 messenger ribonucleic acid (RNA) expression levels were determined using reverse transcriptase-quantitative PCR. CASP8 expression levels associated with prognostic value were also analyzed using the TARGET NBL (141 cases) database through PDX for Childhood Cancer Therapeutics (PCAT) and SEQC (498 cases) via the R2 platform. CASP8 methylation status was associated with risk groups, MYCN amplification, and 17q gain status. CASP8 expression was found to be statistically different between high- and low-risk neuroblastoma groups. Low expression of CASP8 was associated with MYCN amplification status. Low expression of CASP8 has shown statistically significant prognostic value through TARGET NBL and SEQC-498 data sets. CASP8 messenger RNA expressions and methylation status were associated with the MYCN amplified high-risk group in neuroblastoma. CASP8 messenger RNA expressions may be considered as a clinical prognostic marker in neuroblastoma.

Background and objectives: Medical professionals use social media for career development, education, clinical outreach, or advocacy. Prior studies estimate that 25% to 65% of health care providers use social media professionally; however, the number of users and platforms are rapidly changing. Therefore, as part of a broader study, we set out to assess platform preferences and social media usage among neurologists.

Methods: This was a multisite cross-sectional analysis consisting of a REDCap survey of clinicians, residents, and medical students. Faculty, trainees, or clinical year medical students interested in child neurology or adult neurology residency or fellowship programs within the United States were eligible to participate. Recruitment methods were broad to encompass as diverse and extensive participation as possible. Results were analyzed using descriptive statistics. Data are presented according to the STROBE guidelines.

Results: Of the 226 neurology respondents, 55% (n = 124) were child neurology and 45% (n = 102) were adult neurology across all career stages, including students. Of the 70% who reported using social media in a professional capacity, the most commonly reported reasons were for networking and collaboration (n = 95, 60%), self-directed medical learning (n = 90, 57%), and brand building and reputation (n = 62, 39%). Twitter and Facebook were the most common and versatile platforms used by neurologists. Medical students had the highest documentation of social media scholarships on their curriculum vitae (37%, P = .016) and the most interest (33%, P = .016) in learning how to document social media scholarships if they were not already. Early faculty shared this interest more than residents, fellows, or mid-late career faculty. In all groups except for mid-late career faculty, a majority of respondents (>75%) showed interest in learning how to leverage social media for career development.

Discussion: Social media is used professionally by a majority of neurologists, most commonly for networking, self-directed learning, and building individual brands. Opportunities exist to better understand platform preferences and ways to optimize their use for various professional activities as well as to provide education on effective professional use of social media including documentation for promotion.

Childhood absence epilepsy is one of the most prevalent pediatric epilepsy syndromes, but diagnostic delay is common and consequential. Childhood absence epilepsy is diagnosed by history and physical examination including hyperventilation with electroencephalography (EEG) used to confirm the diagnosis. Hyperventilation produces generalized spike-wave discharges on EEG in >90% of patients with childhood absence epilepsy and provokes clinical absence seizures consisting of brief loss of consciousness typically within 90 seconds. Child neurologists report a high volume of referrals for children with "staring spells" that strain already limited health care resources. Resources are further strained by the use of EEG for monitoring antiseizure medication effectiveness with unclear benefit. In this review, we examine the safety and efficacy of hyperventilation activation as a tool for the diagnosis and management of childhood absence seizures.

Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.Aim of this study was to identify cases of neonatal hyperekplexia with a confirmed genetic diagnosis and to establish the genotype-phenotype correlation at onset. Articles were selected from 1993 to 2024 and PRISMA Statement was applied including newborns within 28 days of life. So, we retrieved from literature 14 cases of genetically confirmed neonatal hyperekplexia. The onset of clinical manifestations occurred in the first day of life in 8 of 14 patients (57.14%). Clinical findings were muscle stiffness (100%), startle reflex (66.66%), apnea/cyanosis (41.66%), positive nose-tapping test (33.33%), jerks (33.33%), jitteriness (25%), and ictal blinking (25%). Genes involved were GLRA1 in 9 of 14 (64.28%), SLC6A5 in 2 of 14 (14.28%), GPHN in 1 of 14 (7.14%), and GLRB in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable.Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients.

Introduction: Skull infarction is an uncommonly reported complication of sickle cell disease. We aimed to characterize the clinical and imaging features of skull infarction in pediatric patients with sickle cell disease.

Methods: We searched the PubMed database for case reports on skull bone infarction in pediatric patients with sickle cell disease. Out of 67 records retrieved, 15 met inclusion criteria, and a 16th case reported by the senior author was included. We extracted and analyzed clinical and imaging data.

Results: The most common symptom at onset was headache (88%). Bilateral skull infarction (50%) and parietal bone involvement (82%) were frequent imaging findings. Epidural hematoma developed in 65% of the cases, 30% of patients required drainage, and exchange infusion was reported in 18%. No fatal outcomes were reported.

Conclusions: Skull infarction is a potentially severe complication of sickle cell disease presenting unique clinical challenges. Acute headaches should raise suspicion for this condition and may require additional investigation.

Here we describe a pediatric patient with febrile infection-related epilepsy syndrome with a good functional and neurologic outcome after treatment with early and aggressive cytokine-directed immunomodulatory therapy and a seizure management strategy that intentionally avoided a barbiturate coma. A 5-year-old previously healthy male presented with staring, behavioral arrest, and encephalopathy evolving to super-refractory status epilepticus. He had had onset of fever 5 days prior. He was treated with early and aggressive immunomodulatory therapy targeted to his evolving cytokine profile. He was also treated with the ketogenic diet, antiseizure medications, and continuous anesthetic infusions. Pentobarbital was purposely avoided. Now, 2½ years later, he attends mainstream school, has attention-deficit hyperactivity disorder (ADHD), mild neurocognitive impairment, and well-controlled epilepsy. By using cytokine-directed immunotherapy and avoiding a barbiturate coma, we were able to successfully treat a pediatric patient with febrile infection-related epilepsy syndrome and achieve a good outcome.