Publications by authors named "Natsume J"
Gait disturbance is a common motor symptom in Angelman syndrome (AS), but its characteristics have been poorly studied quantitatively. This study aimed to analyze gait characteristics in school-age children with AS using three-dimensional gait analysis (3DGA). Patients with clinically and genetically confirmed AS and healthy children aged 6-15 years were included.
View Article and Find Full Text PDFArticle Synopsis
- Delta brushes are spontaneous neural activities in preterm infants' brains, linked to the development of subplate neurons.
- This study examined how these delta brushes affect blood flow (haemodynamics) using simultaneous EEG and near-infrared spectroscopy (NIRS) in five preterm infants at different ages.
- The findings revealed that positive responses in blood oxygen levels predominated during these activities, particularly in the temporal regions, suggesting strong connectivity in the developing brain, especially related to the insula.
Article Synopsis
- The study investigates how sleep states and breathing patterns affect functional connectivity (FC) in the brains of preterm infants compared to term infants, focusing on transitions from preterm to term ages.
- Researchers analyzed data from 63 preterm and 44 term infants using electroencephalography and functional near-infrared spectroscopy to compare FC during active and quiet sleep, and how these patterns relate to neurodevelopmental outcomes.
- Results indicated that preterm infants exhibited higher FC in both sleep states, especially during active sleep, and certain patterns of FC were linked to negative neurodevelopmental indicators in these infants.
Background: Quantitative EEG is frequently used to monitor children affected by acute encephalopathy (AE), with the expectation of providing comprehensive insights into continuous EEG monitoring. However, the potential of quantitative EEG for estimating outcomes in this context remains unclear. We sought reliable prognostic markers within the color density spectral array (CDSA) of the continuous EEG for AE-affected children undergoing therapeutic hypothermia (TH).
View Article and Find Full Text PDFArticle Synopsis
- The study investigates two patients with post-acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) using EEG-fMRI to understand their epileptic foci and brain networks.
- Patient 1 experienced focal seizures with BOLD changes in various brain regions, while Patient 2 had spasms that improved after a surgical procedure called corpus callosotomy, leading to different BOLD responses pre- and post-operation.
- The findings suggest that EEG-fMRI can identify extensive and complex epileptic networks in these patients, and that corpus callosotomy can help manage seizures by disconnecting these networks.
Article Synopsis
- The study compared body composition and motor function in children aged 6-12 years who were born large for gestational age (LGA) versus those born appropriate for gestational age (AGA).
- Findings showed that LGA children had a higher fat mass index and lower gait deviation index compared to AGA children, suggesting potential risks for metabolic syndrome and gait issues.
- Multiple regression analysis indicated that both being LGA at birth and fat mass index were key factors related to gait performance, emphasizing the importance of monitoring these variables in LGA children.
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).
Article Synopsis
- GTPCH1-deficient dopa-responsive dystonia (DRD) is a condition that starts in childhood, causing issues with posture and movement, but can improve significantly with levodopa treatment.
- Researchers conducted a three-dimensional gait analysis (3DGA) on three patients receiving levodopa to measure various aspects of their walking patterns before and after treatment.
- Results showed that treatment could lead to improvements in some patients, particularly in foot alignment and gait consistency, although the effects varied individually, highlighting the need for tailored evaluations in treatment.
Article Synopsis
- A study evaluated the effect of levodopa on gait disturbances in individuals with Dravet syndrome (DS), using a three-dimensional gait analysis (3DGA) in a crossover design with nine participants aged 6-20 years.
- The results showed significant improvements in gait metrics, including a 4.2-point increase in the Gait Deviation Index (GDI), a 52-meter improvement in the 6-minute walking distance, and enhanced balance.
- The findings suggest that levodopa may effectively improve gait disturbances in younger individuals with better initial gait performance, with no serious side effects noted, except for one case of fever.
Article Synopsis
- A study in Aichi Prefecture, Japan, aims to identify causes of child deaths and propose a method for systematic reviews to improve child death review (CDR) systems.* -
- Researchers examined clinical medical and autopsy records for children under 15 who died between 2014-2016, finding that 26.8% of these deaths were preventable, while cases of suspected maltreatment were notably higher than government statistics indicate.* -
- The findings suggest that reviewing clinical records is an effective strategy for identifying potentially preventable deaths and initiating the CDR process in Japan.*
Regional anatomical structures of the brain are intimately connected to functions corresponding to specific regions and the temporospatial pattern of genetic expression and their functions from the fetal period to old age. Therefore, quantitative brain morphometry has often been employed in neuroscience investigations, while controlling for the scanner effect of the scanner is a critical issue for ensuring accuracy in brain morphometric studies of rare orphan diseases due to the lack of normal reference values available for multicenter studies. This study aimed to provide across-site normal reference values of global and regional brain volumes for each sex and age group in children and adolescents.
View Article and Find Full Text PDFThis work aimed to investigate the involvement of the thalamic nuclei in mesial temporal lobe epilepsy (MTLE) and identify the influence of interictal epileptic discharges on the neural basis of memory processing by evaluating the functional connectivity (FC) between the thalamic nuclei and default mode network-related area (DMNRA) using magnetoencephalography. Preoperative datasets of nine patients with MTLE with seizure-free status after surgery and those of nine healthy controls were analyzed. The FC between the thalamic nuclei (anterior nucleus [ANT], mediodorsal nucleus [MD], intralaminar nuclei [IL]), hippocampus, and DMNRA was examined for each of the resting, pre-spike, spike, and post-spike periods in the delta to ripple bands using magnetoencephalography.
View Article and Find Full Text PDFPurpose: Infants born to mothers with chorioamnionitis (CAM) are at increased risk of developing adverse neurodevelopmental disorders in later life. However, clinical magnetic resonance imaging (MRI) studies examining brain injuries and neuroanatomical alterations attributed to CAM have yielded inconsistent results. We aimed to determine whether exposure to histological CAM in utero leads to brain injuries and alterations in the neuroanatomy of preterm infants using 3.
View Article and Find Full Text PDFBackground: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an autoimmune demyelinating disorder that often manifests after infections or vaccinations. We report two patients who developed MOGAD out of eight patients with juvenile myelomonocytic leukemia (JMML) that has never been reported.
Methods: We investigated two patients with JMML who developed MOGAD among 127 patients with leukemia from 2012 to 2021.
Objective: In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences among groups classified by phenotype or genotype. The purpose of this study was to investigate the association between these biochemical parameters and Glut1DS severity.
Methods: The medical records of 45 patients who visited Osaka University Hospital between March 2004 and December 2021 were retrospectively examined.
Objective: To compare walking efficiency, and associated physical function, between children, with and without developmental coordination disorder trait.
Design: Cross-sectional study.
Setting: The study was conducted in a Medical and Rehabilitation Center for Developmental Disabilities in Okazaki, Japan.
Objectives: Ataxic-rigid gait is a characteristic gait pathology in patients with Rett syndrome (RTT). In the present study, we aimed to quantitatively evaluate gait pathology in patients with RTT using three-dimensional gait analysis (3DGA).
Methods: We performed 3DGA in 11 patients with RTT ranging from 5 to 18 years (median age, 9 years) and in 33 age-matched healthy female controls.
Article Synopsis
- - This study examined how children with Down syndrome (DS) perform when walking, both alone and while watching a movie, comparing their results to those of age- and sex-matched controls.
- - Results showed that children with DS had worse balance, muscle strength, and overall gait quality compared to controls, and there were positive correlations between their gait speed and step length with their intelligence quotient.
- - The findings suggest the need for targeted interventions to improve motor functions in children with DS, considering both their walking performance and cognitive abilities.
Background And Purpose: West syndrome is a developmental and epileptic encephalopathy characterized by epileptic spasms, neurodevelopmental regression, and a specific EEG pattern called hypsarrhythmia. Our aim was to investigate the brain activities related to hypsarrhythmia at onset and focal epileptiform discharges in the remote period in children with West syndrome using simultaneous electroencephalography and fMRI recordings.
Materials And Methods: Fourteen children with West syndrome underwent simultaneous electroencephalography and fMRI at the onset of West syndrome.
CaMKIIα plays a fundamental role in learning and memory and is a key determinant of synaptic plasticity. Its kinase activity is regulated by the binding of Ca/CaM and by autophosphorylation that operates in an activity-dependent manner. Though many mutations in CAMK2A were linked to a variety of neurological disorders, the multiplicity of its functional substrates renders the systematic molecular phenotyping challenging.
View Article and Find Full Text PDFArticle Synopsis
- This study utilized whole-exome sequencing (WES) on 177 Japanese patients with undiagnosed conditions to identify genetic causes of their health issues, as part of the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD).
- WES successfully provided diagnostic results for 66 patients through single-nucleotide variants and 11 through copy number variants (CNVs), with a particular case diagnosing Angelman syndrome linked to a specific genetic variant.
- The study achieved a higher genetic diagnosis rate (44%) compared to previous research (24-35%), likely due to comprehensive reviews by medical specialists and improved CNV detection methods.