Introduction Pathogenic variants in β-1,4-N-acetylgalactosaminyltransferase 1 (B4GALNT1) are primarily associated with hereditary spastic paraplegia type 26 (SPG26). In addition, these variants have been implicated in Charcot-Marie-Tooth disease, suggesting a broad phenotypic continuum involving both the central and peripheral nervous systems. Herein, we report a pair of siblings harboring novel compound heterozygous variants in B4GALNT1. Despite carrying identical variants, the sisters exhibited distinct clinical manifestations. Case report The proband, the younger sister (aged 13 years), presented with progressive lower-limb spasticity and muscle weakness. These symptoms prompted genetic testing, which identified compound heterozygous variants in B4GALNT1 and led to a diagnosis of SPG26. Genetic analysis of her elder sister confirmed the presence of the same variants; however, she did not exhibit spastic paraplegia. Instead, her primary clinical feature was intellectual disability (ID). Conclusion These cases illustrate the broad clinical spectrum of B4GALNT1-related disorders. Despite sharing identical pathogenic variants, the siblings demonstrated divergent phenotypes: one with typical spastic paraplegia and the other presenting primarily with ID. Given the absence of overt neurological deficits at the time of evaluation, the phenotype in the elder sister may represent a presymptomatic stage or a very mild manifestation of the disease. These findings suggest that B4GALNT1 variants should be considered in the differential diagnosis of unexplained ID, even when clear motor dysfunction is not yet apparent.
Introduction The term ‘visual search’ (VS) is used to describe behaviors such as finding a desired item while shopping or looking for a room key. These behaviors are important in everyday life. Individuals with autism spectrum disorder (ASD) have been reported to experience difficulties with VS. However, the characteristics of VS and the associated brain activity remain unclear. Therefore, we investigated these characteristics in detail using a measurement method that combined VS tasks with brain function measurements. Methods Twenty-one individuals with ASD and 42 typically developing (TD) individuals, matched for age and visual intelligence, participated in this study. The characteristics of VS were evaluated using two types of cancellation tasks: structured and random arrays. We evaluated VS performance using various measurements, including the rate of intersections and the best r, which reflect systematicity and directional constancy. We measured brain activity using functional near-infrared spectroscopy in the prefrontal cortex (PFC). Results The ASD group had a significantly higher rate of intersections and a significantly lower best r than the TD group. The right PFC activity was significantly higher than the activity in other PFC regions during the random array task in the TD group. Additionally, the TD group exhibited significantly higher right PFC activity than the ASD group. Conclusion These results suggest that VS in individuals with ASD is characterized by inconsistent search direction and disorganization and that patterns of PFC brain activity during VS may also differ from those observed in TD individuals.
Background Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is an inflammatory demyelination disorder primarily affecting children. Pediatric-onset MOGAD typically responds well to corticosteroids; however, predictors of relapse and optimal strategies for sustained remission remain unclear. Objective To explore treatment-associated factors that may be related to relapse in pediatric MOGAD, we focused on remission timing, second-line therapy, and prednisolone (PSL) tapering. Methods We retrospectively analyzed 11 pediatric MOGAD cases diagnosed between 2015 and 2023. The clinical presentation, treatment course, and relapse patterns, including remission timing, second-line therapy, and PSL tapering, were reviewed. Results Among the 11 pediatric patients (median age at onset: 9 years; median follow-up: 70 months), five (45.5%) experienced relapse. Delayed remission and absence of early transition to second-line therapy were observed in relapsing cases. A shorter duration of low-dose PSL tapering (median 16.5 vs 86 days) was also more frequently observed in relapsing cases. In one patient, serum MOG antibody titers rose prior to clinical relapse. These observations are hypothesis-generating and should be interpreted with caution given the small sample size. Conclusion These hypothesis-generating observations suggest that optimizing acute-phase treatment may be important in reducing the relapse risk in pediatric MOGAD. Escalation to second-line therapy may warrant consideration when improvement is inadequate within the first days of acute treatment (no response by day 3 or insufficient improvement by day 5). Early escalation and a more gradual PSL taper were more often observed among patients who remained relapse-free. However, prospective studies with larger cohorts are required to confirm these findings.
Background Children and adolescents with attention-deficit/hyperactivity disorder (ADHD) are at risk of developing secondary mental health problems. Physical activity (PA) has recently gained attention as a non-pharmacological intervention. However, studies that comprehensively organize its effects on different aspects of mental health remain limited. This study aimed to systematically organize existing evidence on the effects of PA on the mental health of children with ADHD. Methods This scoping review was conducted in accordance with PRISMA-ScR guidelines. A literature search was performed across seven electronic databases. Studies examining the relationship between PA and mental health in children with ADHD were included. Two reviewers independently conducted study selection and data extraction. Results A total of 10 studies were included. PA showed relatively consistent improvements in internalizing problems. In contrast, effects on externalizing problems varied across studies. In addition, some improvements were observed in psychological well-being, emotional/self-regulation, and cognitive function. Conclusion PA may contribute to improvements across multiple aspects of mental health in children with diagnosed ADHD or ADHD symptoms. However, these effects appear to depend on specific outcomes and intervention characteristics. Therefore, to effectively support mental health in children with diagnosed ADHD or ADHD symptoms, it may be important to tailor exercise interventions to the targeted mental health outcomes while also considering components included in the interventions beyond exercise itself.
