Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder marked by persistent impairments in social communication and interaction, together with restricted and repetitive behavior or interests. Recent epidemiological data indicate that the prevalence of ASD has continued to increase worldwide. Current behavioral and pharmacological interventions remain limited in efficacy, particularly for associated comorbidities. In this context, metabolic interventions, especially the ketogenic diet (KD), have attracted growing interest as a potential therapeutic strategy. A total of 62 young children with ASD admitted to Hefei Maternal and Child Health Hospital between January 2024 and January 2025 were prospectively enrolled and randomly assigned to a treatment group or a control group (31 per group). Both groups underwent hospital-based rehabilitation training on weekdays and home-based rehabilitation on weekends over a 2-month period. The treatment group additionally received a modified KD, comprising ketogenic nutritional powder and a structured dietary plan, with lunch provided at the hospital on training days while breakfast, dinner, weekend dietary implementation, and home monitoring were managed by caregivers. The control group followed a regular diet along with the same rehabilitation program. Changes in ASD-related symptoms were assessed using the Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). After two months of intervention, both groups showed significant reductions in ABC and CARS scores compared with baseline (P < 0.05). Between-group comparison of individual change scores showed larger reductions in the treatment group for both ABC (U = 324.000, P = 0.027) and CARS (U = 273.500, P = 0.003). In this cohort of young children with ASD, the modified ketogenic diet combined with rehabilitation training was associated with greater short-term reductions in ABC and CARS scores than rehabilitation alone. The intervention demonstrated acceptable short-term feasibility. The Project was registered on China Clinical Trial Registry (ChiCTR) with the identifier ChiCTR2300075057 ,Registered 24 August 2023, https://www.chictr.org.cn/.
Functional gastrointestinal disorders (FGIDs) are common in childhood and represent a major clinical challenge in paediatric care. Within the biopsychosocial framework of FGIDs, parental factors are increasingly recognised as important influences on children’s symptom experience and illness behaviour. However, most studies have compared families of children with FGIDs only with healthy controls, leaving it unclear whether parental characteristics are FGID-specific or reflect the broader burden of caring for a child with chronic gastrointestinal disease. This study aimed to compare parental psychological distress, somatic symptoms and neuroticism among parents of children with FGIDs, organic gastrointestinal diseases and healthy controls. In this cross-sectional study, 65 parents of children aged 2–12 years with FGIDs diagnosed according to Rome IV criteria were recruited at the University Children’s Hospital Basel (February 2024-February 2025). Control groups included parents of children with organic gastrointestinal diseases (n = 62) and healthy children (n = 90). Parents completed validated questionnaires assessing psychological distress (Patient Health Questionnaire-4), somatic symptoms (Somatic Symptom Scale-8), and neuroticism (Big Five Inventory-10). Group differences were examined using non-parametric tests and covariate-adjusted negative binomial regression models. Parents of children with FGIDs reported significantly higher psychological distress, somatic symptoms and neuroticism compared with both control groups (all p < 0.01). Adjusted regression analyses confirmed consistently lower scores in both control groups relative to the FGID group (incidence rate ratios range: 0.31–0.77). Screen-positive rates for parental anxiety and depression (PHQ-4 subscales) were highest in the FGID group (approximately 17
Children presenting with progressive gait abnormality may suffer from a genetic disorder. NDUFS1-related mitochondrial complex I deficiency is a rare disorder with highly variable phenotypes. Predominant axonal neuropathy without prominent systemic metabolic dysfunction is unusual. Expanding reports of such presentations is important for accurate diagnosis. A young adolescent boy with non-consanguineous parents presented with an atypical and severe axonal sensorimotor polyneuropathy. His metabolic workup was negative. Molecular genetic analysis uncovered a rare form of mitochondrial complex I deficiency due to compound heterozygous variants of the NDUFS1 gene. This case highlights a rare and atypical presentation associated with two NDUFS1 variants, one previously annotated as variant of uncertain significance in ClinVar. The other is novel. This expands the phenotypic and genetic spectrum linked to NDUFS1-related disorders.
Contact with nicotine during adolescence can harm one’s short and long-term health. The global use of e-cigarettes is growing, making it crucial to identify factors for controlling this trend. This study sought to estimate the prevalence of e-cigarette experimentation among Brazilian school adolescents and to analyze associated sociodemographic, interpersonal, behavioral and health factors. Cross-sectional study, with data from the 2019 National School Health Survey (Pesquisa Nacional de Saúde do Escolar – PeNSE), representative of schoolchildren, aged 13 to 17 years, in Brazil, with a sample size of 124,610. The outcome variable was e-cigarette experimentation (lifetime ever use of electronic cigarette). This study focused on sociodemographic, interpersonal, behavioral, and health explanatory variables. A multivariable logistic regression model was also used. The prevalence of e-cigarette experimentation was 16.8
Hypertension in childhood has been recognized as an early marker of future cardiovascular risk, and blood pressure trajectories are known to track from early life into adulthood. Environmental exposures during early childhood, particularly indoor air pollutants such as particulate matter (PM) and volatile organic compounds (VOCs), may influence blood pressure regulation; however, evidence in very young children remains limited. Identifying early-life environmental factors associated with blood pressure may help improve risk assessment and prevention strategies later in life. This study used secondary data from children who participated in a national birth cohort study in Japan, the Japan Environment and Children's Study. We measured the indoor concentrations of PM and VOCs at the ages of 1.5 and three years, and blood pressure (BP) at the ages of two and four years. To investigate the correlation between PM and VOCs and BP, scatter plots were created to visually assess the presence of a correlation, and the correlation coefficients were calculated. We investigated the correlation between PM and VOCs at 1.5 years of age and BP at two years of age. Similarly, we examined the correlation between PM and VOCs at three years of age and BP at four years of age. The total number of participants in this study was 4,854. There were no clear correlations between any of the PM, VOCs, and BP across all sexes and years. The absolute values of the correlation coefficients were all less than 0.2, indicating no significant correlation between any of the variables. Multiple regression analyses also showed that m,p-xylene at 1.5 years was associated with higher BP at age two, whereas PM2.5 was associated with lower BP. P-dichlorobenzene and toluene were associated with lower BP, respectively, and benzene at age three was associated with lower BP at age four; however, all effect sizes were small. Exposure to PM and VOCs at levels sufficient to affect BP in early childhood is unlikely to occur during normal household life. However, this does not eliminate the long-term risks of hypertension or the potential for other diseases.
