Search Results (96)

Autism Spectrum Disorder (ASD) is frequently accompanied by gastrointestinal disturbances, dietary selectivity, and altered stress responses, with growing evidence pointing to gut–brain axis involvement. While intestinal microbiota has been extensively studied, the role of the oral microbiota remains underexplored. This study investigates the associations between oral microbiota composition and behavioral, gastrointestinal, dietary, and neuroendocrine parameters in children with ASD. A total of 45 children aged 2–18 years comprised the study group. Data collection included oral swabs for 16S rRNA gene sequencing, salivary cortisol sampling, dietary records, and standardized behavioral assessments using the Vineland Adaptive Behavior Scale. A total of 363 microbial species across 11 phyla were identified. Significant correlations were observed between specific bacterial taxa and functional gastrointestinal disorders (FGIDs), dietary patterns, salivary cortisol rhythms, and functioning. Children with FGIDs, food selectivity, or macronutrient imbalances exhibited enriched pro-inflammatory taxa (e.g., Selenomonas, Megasphaera), whereas those with typical cortisol secretion or higher adaptive functioning showed greater microbial diversity and abundance of health-associated genera (e.g., Bifidobacterium dentium). These findings suggest that oral microbiota profiles may reflect systemic physiological and neurobehavioral traits in children with ASD. Further longitudinal studies are needed to clarify causal relationships and support the development of microbiota-targeted interventions. Full article

Objectives: The increasing use of fetal MRI has increased the diagnosis of posterior fossa malformations, yet the long-term neurodevelopmental outcomes of affected fetuses remain unclear. This study aims to examine the long-term neurodevelopmental outcomes of fetuses with structural posterior fossa malformation diagnosed on fetal MRI. Methods: A historical cohort study was conducted at a single tertiary referral center, including fetuses diagnosed with structural posterior fossa malformations and apparently healthy fetuses who underwent fetal brain MRI between 2011 and 2019. Maternal, pregnancy, and newborn characteristics were compared between groups, alongside long-term neurodevelopmental outcomes using the Vineland Adaptive Behavior Scales II (VABS-II) questionnaire. This included an extensive assessment of malformation types, additional structural, genetic, or neurodevelopmental anomalies, and outcomes. Results: A total of 126 fetuses met the inclusion criteria, of which 70 were apparently healthy fetuses, and 56 had structural posterior fossa malformations. Among the latter, 18 pregnancies were terminated, 4 resulted in neonatal death, and 11 were lost to follow-up. No significant differences were found in the overall neurodevelopmental outcomes between fetuses with structural posterior fossa malformation (93.4 ± 19.0) and apparently healthy fetuses (99.8 ± 13.8). Motor skills scores were lower among fetuses with structural posterior fossa malformations (87.7 ± 16.5 vs. 99.3 ± 17.2, p = 0.01) but remained within the normal range. Conclusion: Fetuses with structural posterior fossa malformations may exhibit normal long-term neurodevelopmental outcomes if no additional anomalies are detected during thorough prenatal screening that includes proper sonographic, biochemical and genetic screening, as well as fetal MRI. Further research with larger cohorts and longer-term assessments is recommended to validate these findings and support clinical decision-making. Full article

Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by a complex, multifactorial etiology with a strong genetic contribution. Our study aimed to evaluate the link between the burden of rare genetic variants within a specific panel of ASD and intellectual disability-associated genes and phenotypic variability in a cohort of children with autism in Slovakia. Methods: Gene burden scores were calculated based on pathogenic, likely pathogenic, and uncertain significance rare DNA variants identified by whole-exome sequencing. We then assessed the effect of three different scoring methods on the variance across 15 psycho-behavioral parameters describing the phenotypic profiles of 117 ASD probands. Results: The burden score showed a significant multivariate effect on the combination of psycho-behavioral parameters. This score was associated with the social affect of ADOS-2, as well as with the socialization domain, and total adaptive behavior scores from the Vineland Adaptive Behavior Scales-3 (VABS). While a score based solely on count of pathogenic and likely pathogenic variants did not show a multivariate effect, incorporating variants of uncertain significance revealed a multivariate effect on two adaptive behavior parameters: daily living skills and total adaptive behavior score (VABS). Conclusions: Our findings partially explain the variability in phenotypic manifestation in our ASD patient cohort, highlighting the importance of considering the cumulative effect of rare genetic variants, including those of uncertain significance, in shaping the diverse clinical presentation of ASD. Full article

Approximately 18% of U.S. children experience cognitive and behavioral challenges, with both genetic and environmental contributors. We examined if household insecticides, particularly those used in and around the home and on pets, are associated with neurodevelopmental changes. Data were from children aged 24–60 months in the CHARGE study with the following classifications: autism spectrum disorder (ASD, n = 810), developmental delay (DD, n = 192), and typical development (TD, n = 531). Exposure to indoor, outdoor, and pet insecticides was reported for the period from three months pre-conception to the second birthday. Cognitive and adaptive functioning were assessed using the Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales. Linear regression was used to evaluate associations by diagnostic group, adjusting for confounders. Flea/tick soaps, shampoos, and powders used during year two were significantly associated with lower cognitive and adaptive scores in children with ASD after FDR correction. Flea/tick skin treatments in early pregnancy were associated with reduced scores in the DD group, though not significant after correction, especially when used with high frequency. No associations were observed in TD children. These findings underscore the need to examine early-life exposure to non-agricultural insecticides as modifiable risk factors for neurodevelopment. Full article

The study’s aim was to evaluate electroretinographic (ERG) alterations in Fragile X syndrome (FXS), FMR1 premutation carriers, and controls, and to explore correlations with peripheral blood FMRP expression levels and behavioral outcomes. ERG recordings were obtained using a handheld device across three stimulus protocols in 43 premutation carriers, 39 individuals with FXS, and 23 controls. Peripheral blood FMRP expression levels were quantified using TR-FRET (Time-Resolved Fluorescence Resonance Energy Transfer). Correlations were assessed with cognitive and behavioral measures including IQ (Intelligence Quotient), ABC_FX (Aberrant Behavior Checklist for Fragile X Syndrome), SNAP-IV (Swanson, Nolan, and Pelham Teacher and Parent Rating Scale), SEQ (Sensory Experiences Questionnaire), ADAMS (Anxiety, Depression, and Mood Scale), and the Vineland III Adaptive Behavior Scale standard score. Significant group differences were observed in multiple ERG parameters, particularly in 2 Hz b-wave amplitude (p = 0.0081), 2 Hz b-wave time to peak (p = 0.0164), 28.3 Hz flash combined amplitude (p = 0.0139), 3.4 Hz red/blue flash b-wave amplitude (p = 0.0026), and PhNR amplitude (p = 0.0026), indicating both outer and inner retinal dysfunction in FXS and premutation groups. Despite high test–retest reliability for ERG (ICC range = 0.71–0.92) and FMRP (ICC = 0.70), no correlation was found between ERG metrics and FMRP or behavioral measures. However, FMRP levels strongly correlated with IQ (ρ = 0.69, p < 0.0001) and inversely with behavioral impairment [ABC_FX (ρ = −0.47, p = 0.0041), SNAP-IV (ρ = −0.48, p = 0.0039), SEQ (ρ = −0.43, p = 0.0146), and the Vineland III standard score (ρ = 0.56, p = 0.0019)]. ERG reveals distinct retinal functional abnormalities in FMR1-related conditions but does not correlate with peripheral FMRP expression levels, highlighting the need for multimodal biomarkers integrating radiological, physiological, behavioral, and molecular measures. Full article

A high-throughput sequencing-based grapevine metagenomic survey was conducted across all grape-growing Canadian provinces (British Columbia, Ontario, Nova Scotia, and Québec) with the objective of better understanding the grapevine virome composition. In total, 310 composite grapevine samples representing nine Vitis vinifera red; five V. vinifera white; seven American–French red; and five white hybrid cultivars were analyzed. dsRNA, enriched using two different methods, was used as the starting material and source of viral nucleic acids in HTS. The virome status on the distribution and incidence in different regions and grapevine cultivars is addressed. Results from this study revealed the presence of 20 viruses and 3 viroids in the samples tested. Twelve viruses, which are in the regulated viruses list under grapevine certification, were identified in this survey. The major viruses detected in this survey and their incidence rates are GRSPaV (26% to 100%), GLRaV-2 (1% to 18%), GLRaV-3 (15% to 63%), GRVFV (0% to 52%), GRGV (0% to 52%), GPGV (3.3% to 77%), GFkV (1.5% to 31.6%), and GRBV (0% to 19.4%). This survey is the first comprehensive virome study using viral dsRNA and a metagenomics approach on grapevine samples from the British Columbia, Ontario, Nova Scotia, and Quebec provinces in Canada. Results from this survey highlight the grapevine virome distribution across four major grapevine-growing regions and their cultivars. The outcome of this survey underlines the need for strengthening current management options to mitigate the impact of virus spread, and the implementation of a domestic grapevine clean plant program to improve the sanitary status of the grapevine ecosystem. Full article

Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS. Full article

Phytopythium vexans is a plant pathogen responsible for a variety of destructive diseases in crops worldwide. This includes patch canker, damping-off, root, and crown rots in economically important crops, such as apple, pear, grapevine, citrus, avocado, and kiwi. The pathogen has a global distribution, and a recent report confirmed its presence in southern Ontario, Canada. This study presents the first genome sequencing, assembly, and annotation of the Canadian P. vexans strain SS21. To explore how variation in secreted protein repertoires may relate to infection strategies and host adaptation, we compared the predicted secretome of SS21 with reference strains from Iran (CBS 119.80) and China (HF1). The analysis revealed that HF1 harbors a larger set of CAZymes, sterol-binding proteins, and predicted effectors, which may suggest broader adaptive potential. In contrast, strain SS21 appears to have adapted to a niche-specific strategy, with fewer necrosis-inducing proteins, glucanase inhibitors, and effectors, possibly indicating adaptation to specific hosts or ecological conditions. Comparative genome data highlight distinct evolutionary trajectories that may have shaped each strain’s infection strategy, with SS21 potentially serving as a robust additional reference for future studies on P. vexans biology and host interactions. While this analysis identifies key candidate effectors, gene expression studies are required to validate their functional roles in infection and host manipulation. Full article

Despite encouraging evidence for the efficacy of comprehensive and intensive behavioral intervention (CIBI) programs, the majority of studies have focused on relatively narrow, deficit-focused outcomes. More specifically, although adaptive social communication and interaction (SCI) are essential for facilitative functioning, the majority of studies have utilized instruments that capture only the severity of SCI symptoms. Thus, given the importance of the comprehensive and appropriate characterization of distinct SCI adaptive skills in CIBI, in this review, based on PubMed search strategies to identify relevant published articles, we provide a critical appraisal of two of the most commonly used adaptive functioning measures—the Vineland Adaptive Behavior Scales-Third Edition (Vineland-3) and the Adaptive Behavior Assessment System-Third Edition (ABAS-3), for characterizing SCI in the behavioral intervention context. The review focused on periodic outcome and treatment planning assessment in people with autism spectrum disorder receiving CIBI programs. Instrument technical manuals were reviewed and a PubMed search was used to identify published manuscripts, with relevance to Vineland-3 and ABAS-3 development, psychometric properties, or measure interpretation. Instrument analysis begins by introducing the roles of periodic outcome assessment for CIBI programs. Next, the Vineland-3 and ABAS-3 are evaluated in terms of their development processes, psychometric characteristics, and the practical aspects of their implementation. Examination of psychometric evidence for each measure demonstrated that the evidence for several key psychometric characteristics is either unavailable or suggests less-than-desirable properties. Evaluation of practical considerations for implementation revealed weaknesses in ongoing intervention monitoring and clinical decision support. The Vineland-3 and ABAS-3 have significant strengths for cross-sectional outpatient mental health assessment, particularly as related to the identification of intellectual disability, but also substantial weaknesses relevant to their application in CIBI outcome assessment. Alternative approaches are offered, including adopting measures specifically developed for the CIBI context. Full article

Tomato brown rugose fruit virus (ToBRFV) is a recently emerged viral pathogen in the Tobamovirus genus first observed in 2014 in the Middle East that has since spread worldwide, causing significant losses in greenhouse tomato production. ToBRFV is easily mechanically transmitted and can escape the durable Tm-2² resistance gene, facilitating its global spread. Seed companies have identified novel sources of resistance and introduced these resistance traits into commercial cultivars. The identity, number, and mechanisms of these putative novel resistance genes are largely unknown but could be exerting selective pressures on ToBRFV. Here, we report 15 new ToBRFV genomic sequences from Canadian greenhouse production systems in susceptible and novel resistant or tolerant cultivars collected since 2023. We combined these sequences with five other Canadian ToBRFV genomes previously deposited in Genbank and a further five consensus sequences derived from metagenomic-based wastewater monitoring sequence data and conducted phylogenetic analysis. Most Canadian sequences grouped together when compared with 332 publicly available international sequences, but several isolates appeared distantly related, suggesting multiple introductions to Canadian production systems. High sequence identity between samples suggest movement of ToBRFV between independent greenhouses, highlighting areas where biosecurity can be improved. Several novel non-synonymous polymorphisms identified in the p126 and movement protein (MP) open reading frames (ORFs) were unique to Canadian sequences and associated with infection of novel resistant tomato cultivars. Many polymorphisms in the p126 ORF are located in a region of the protein associated with Tm-1 resistance-breaking isolates of tomato mosaic virus and ToBRFV, but have not been previously reported. Four novel polymorphisms in MP were also identified and do not appear to be associated with sites previously identified as interacting with Tm-2² and could be related to other unknown resistance genes. Together, these results confirm the difficulties in preventing the transmission of ToBRFV, identify putative adaptations to novel and existing resistance genes, and emphasize the urgent need for the cloning and characterization of these new sources of resistance to ToBRFV. Full article

Black knot (BK) disease, caused by Apiosporina morbosa (Schwein.) v. Arx, significantly afflicts Japanese plums (Prunus salicina L.), resulting in substantial economic losses due to its destructive invasion of branches and trunks. Phenotyping for disease severity is critical to understanding resistance and susceptibility across diverse genotypes. In this study, 200 Japanese plum trees from a mixed lineage breeding program were phenotyped for BK severity using a rating scale from 0 to 5. Trees were rated by two independent raters and repeated on a second day, in early spring 2023, before leaf emergence, for peak visibility. The rating system was designed to capture varying levels of infection, with 0 representing no symptoms and 5 indicating severe infection with major effects to the tree’s overall health. Compared to data from 2015 and 2018, there was a noticeable increase in the number of heavily diseased trees relative to symptom-free trees. In 2023, the proportion of completely resistant trees remained the same as in 2018, suggesting true resistance. Median scores were calculated from four independent ratings per tree, comprised of two individuals on two different days, minimizing individual biases. Additionally, inter-rater reliability was assessed using the weighted Kappa statistic, which yielded a value of 0.903, indicating strong agreement between raters. This phenotypic assessment provides a robust dataset for correlation with genetic markers and supports further breeding efforts aimed at developing BK-resistant cultivars. Full article

A series of porphyrinoids fused to highly electron-withdrawing bis(thiadiazolo)benzene units have been prepared and spectroscopically characterized. These structures have modified chromophores and exhibit large bathochromic shifts. The nickel(II), copper(II) and zinc complexes of a bis(thiadiazolo)benzoporphyrin were prepared, and these showed strong absorptions above 600 nm that shifted to longer wavelengths with increasing atomic number for the coordinated metal cations. Although the investigated porphyrinoids were poorly soluble, proton NMR data could be obtained, and these demonstrated that the structures possess global aromatic character. This was confirmed with nucleus-independent chemical shift (NICS) calculations and anisotropy of induced current density (AICD) plots. The AICD plots also demonstrate that the fused heterocyclic unit is disconnected from the porphyrinoid π-system, and in this respect, it differs from phenanthroline-fused porphyrinoids as it shows the presence of extended conjugation pathways. Full article

This study examines the effect of pre-extraction methods, namely, sonication, grinding, and lyophilization, and the use of peptide nucleic acid (PNA) blockers on the DNA recovery, diversity, and taxonomic resolution of bacterial and fungal communities in apple blossoms. Sonication was the most successful in recovering bacterial 16S and fungal ITS reads across all the collection points and plots. Lyophilization and grinding led to a significant reduction in fungal read counts, while PNA enhanced the recovery of bacterial 16S reads. Sonication improved the efficiency of DNA extraction and yielded greater diversity in the recovered microbial community. Sonicated samples showed greater sensitivity to temporal shifts in microbial community composition. Communities in sonicated samples contained a larger number of bacterial genera, such as Bacillus, Staphylococcus, and Erwinia, and fungal genera, including Didymellaceae and Cladosporium. In contrast, lyophilization and grinding led to a reduction in detected taxa. The indicator species analysis determined that 35 bacterial and 21 fungal genera were closely related to sonication, whereas no other pre-extraction method had any associated genera. Our findings suggest that sonication is the most appropriate pre-extraction method for analyzing blossom-associated microbiomes, and that the use of PNA blockers can improve the recovery of bacteria and minimize contamination by host DNA. Full article

This study provides a comprehensive analysis of the evolution of Autism Spectrum Disorder (ASD) diagnostics, tracing its progression from psychoanalytic origins to the integration of advanced artificial intelligence (AI) technologies. The study explores, through scientific data bases like Pub Med, Scopus, and Google Scholar, how theoretical frameworks, including psychoanalysis, behavioral psychology, cognitive development, and neurobiological paradigms, have shaped diagnostic methodologies over time. Each paradigm’s associated assessment tools, such as the Autism Diagnostic Observation Schedule (ADOS) and the Vineland Adaptive Behavior Scales, are discussed in relation to their scientific advancements and limitations. Emerging technologies, particularly AI, are highlighted for their transformative impact on ASD diagnostics. The application of AI in areas such as video analysis, Natural Language Processing (NLP), and biodata integration demonstrates significant progress in precision, accessibility, and inclusivity. Ethical considerations, including algorithmic transparency, data security, and inclusivity for underrepresented populations, are critically examined alongside the challenges of scalability and equitable implementation. Additionally, neurodiversity- informed approaches are emphasized for their role in reframing autism as a natural variation of human cognition and behavior, advocating for strength-based, inclusive diagnostic frameworks. This synthesis underscores the interplay between evolving theoretical models, technological advancements, and the growing focus on compassionate, equitable diagnostic practices. It concludes by advocating for continued innovation, interdisciplinary collaboration, and ethical oversight to further refine ASD diagnostics and improve outcomes for individuals across the autism spectrum. Full article

Background and Objectives: This study aimed to determine the initial clinical characteristics of children diagnosed with intentional head trauma (IHT) to obtain information about the long-term developmental, psychological, and psychosocial status of these children, to detect delayed sequelae, and to find out information about their judicial processes. Materials and Methods: Fourteen children who were followed up with the diagnosis of IHT in the Ankara Child Protection Unit between 2010 and 2021 were included in the study. These cases were evaluated in terms of physical, developmental, psychological, and visual findings. A complete physical examination was performed on the patients and their anthropometric measurements were taken. Anterior and posterior segment evaluations and visual field examinations were conducted in the visual assessment. The Expanded Guide for Monitoring Child Development and Vineland Adaptive Behavior Scale Third Edition was used in the developmental assessment. A psychiatric evaluation was performed using the Ankara Developmental Screening Inventory, Crowell observation, Affective Disorders and Schizophrenia Form, and Wechsler Intelligence Scale for Children. Results: Of the patients diagnosed with IHT, 71.4% were male and the mean age was 8.39 ± 5.86 (1.27–22.30; IQR: 3.55–11.96) months. In the long-term follow-up, cerebral palsy was detected in three of the children, epilepsy in one, optic atrophy and deviation due to this in one, and deviation due to brain trauma in one. Motor delay was detected in 50.0% of the patients, language delay in 37.5%, cognitive delay in 37.5%, and attention deficit and hyperactivity disorder in 25%. It was observed that the people who caused the injuries of two patients were punished. Conclusions: Children diagnosed with IHT should be monitored with transdisciplinary methods in terms of physical and mental health throughout childhood, starting from the first intervention. Awareness of IHT diagnosis should be increased with training in social service approaches and judicial authorities providing services for child neglect and abuse. Full article