Autism spectrum disorder (ASD) arises from highly heterogeneous genetic and developmental liabilities, raising the question of whether this heterogeneity converges on shared molecular programmes in the human cerebral cortex. This structured review, based on systematic database searching and narrative synthesis, examined that question specifically in human post-mortem cortical transcriptomic studies. PubMed, Scopus and Europe PMC were searched from 1 January 2009 to 6 May 2026, and 43 studies met the final eligibility criteria. Across the available literature, the evidence does not support a single invariant cortical transcriptomic signature in ASD. Rather, the most consistent signal indicates non-uniform convergence on reduced neuronal and synaptic expression together with increased immune-glial programmes. A substantial additional body of evidence implicates dysregulation of transcript-regulatory processes, particularly in studies interrogating alternative splicing and related RNA-processing mechanisms. Cell-resolved datasets further suggest that these abnormalities are concentrated within defined neuronal and glial populations rather than being distributed uniformly across the cortex. By contrast, mitochondrial and broader metabolic alterations are supported less consistently and are better interpreted as conditional or secondary features of cortical pathology than as equally well-established core axes. Interpretation of these findings is constrained by the structure of the evidence base itself. Only 9 of the 43 included studies were judged to provide direct support for the central convergence question, and only 13 were based on primary independent cohorts; much of the literature relies on dataset reuse, regionally restricted sampling and heterogeneous analytical platforms. Collectively, human cortical transcriptomic studies in ASD support a model of partial, context-dependent convergence on a limited set of biological programmes, rather than a single stable molecular lesion.

Autism spectrum disorder (ASD) is characterized by diversity of behavioural abnormalities, and successful intervention depends on an early diagnosis. Conventional diagnostic techniques depend on interviews and observational evaluations, which can occasionally result in errors. In order to enhance the accuracy of ASD recognition, we propose an early ASD detection using Adaptive Fused Spatial-Temporal Graph Convolutional Network Optimized with Artificial Lemming Algorithm (AFSTGCN-ALA). Initially, ASD-related data are collected from ASD Dataset and Adaptive Fast Desensitized Kalman Filter (AFDKF) preprocessing; it effectively eliminates impulsive noise to enhance the accuracy of the data. The Multi-Synchro Squeezing Transform (MSST) is then used to extract features from the preprocessed data, such as connections and frequency band coherence. To differentiate between instances with and without ASD, these extracted traits are then categorized using the AFSTGCN. However, adaptive optimization for parameter tweaking is absent from traditional AFSTGCN, which might affect the accuracy of detection. In order to solve this, the ALA was introduced, which optimizes the weight parameters of AFSTGCN to guarantee correct ASD categorization. The proposed AFSTGCN-ALA model is evaluated using performance criteria such as compute time, F1-score, accuracy and precision. According to experimental data, the suggested technique outperforms current approaches in terms of accuracy by 18.97%, 24.57% and 32.68% while cutting down on computing time by 19.84%, 24.93% and 31.62%. These results open the door to more accurate diagnosis and prompt therapies by demonstrating the effectiveness and dependability of AFSTGCN-ALA for early ASD identification.

Parents of children with Autism Spectrum Disorder (ASD) are more likely to exhibit subclinical autistic characteristics, commonly described as the Broad Autism Phenotype (BAP). This study examines whether the WAIS-R verbal-performance discrepancy and total range scores are associated with social skill deficits in parents of children with ASD, considering sex differences. This case-control study included 24 parents of children with ASD without psychopathology and 28 healthy controls. Participants underwent a structured diagnostic interview (SCID-5-CV) and completed the Autism Spectrum Quotient (AQ). Verbal, performance and total range scores were calculated based on the difference between the highest and lowest subtest scores. Parents of children with ASD exhibited significantly higher AQ social skills subscale and total scores than controls. Fathers had significantly higher verbal range scores than controls, whereas no significant differences were found in mothers. Logistic regression revealed that each 1-point increase in verbal range was associated with a 55.7% higher likelihood (p = 0.032) of belonging to the ASD-parent group among fathers. An optimal cut-off score of 7.5 was identified, with 58.3% sensitivity and 71.4% specificity for distinguishing fathers in the ASD-parent group from controls. Verbal IQ range may represent a potential cognitive marker associated with BAP traits, particularly social skill difficulties, in fathers of children with ASD. However, larger studies are needed to further clarify its clinical significance.

WDR83OS-related neurodevelopmental disorder is a rare autosomal recessive condition characterized by developmental delay, dysmorphic features and variable hepatic involvement, particularly hypercholanaemia. Here, we report a female patient presenting with global developmental delay, syndromic facial features and scaphocephaly due to sagittal craniosynostosis, representing a previously unreported phenotypic feature. The patient was born to consanguineous parents and exhibited delayed motor and language milestones. Physical examination revealed characteristic dysmorphic features, whereas routine laboratory findings, including liver function tests, were within normal limits. Serum bile acid levels were not assessed. Cranial imaging confirmed sagittal craniosynostosis. Whole exome sequencing identified a novel homozygous nonsense variant in WDR83OS, classified as likely pathogenic according to ACMG criteria. No additional candidate variants, including those associated with craniosynostosis, were detected. This case possibly expands the phenotypic spectrum of WDR83OS-related disorder by identifying scaphocephaly as a novel feature. Our findings highlight the importance of comprehensive genomic evaluation in syndromic neurodevelopmental disorders and suggest that WDR83OS should be considered in the differential diagnosis of patients with craniosynostosis and developmental delay, even in the absence of overt hepatic involvement.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviours. Diagnosing ASD early is difficult for healthcare professionals due to its diverse and intricate presentation. However, early detection is vital for enhancing outcomes and enabling the children to access targeted therapies that support the development of social and communication skills. Moreover, Classical models were time-consuming and resource-intensive, and they required lengthy assessments and specialized training. To bridge these complications, this research proposes a Sales Training-Based Optimization enabled Deep High-Order Principal Component Network (STBO_DHPCNet) for ASD classification using resting-state fMRI (rs-fMRI) brain images from 1114 subjects in the ABIDE dataset. First, gamma correction is applied to enhance the quality of the autism brain image. Next, the Region of Interest (ROI) extraction is performed. Afterwards, the nub region extraction is performed based on Sales Training Based Optimization (STBO). On the other hand, feature extraction is done based on an enhanced brain image. Finally, the classification of ASD is done by using DHPCNet, and it is trained using STBO. Here, DHPCNet is developed by incorporating the Deep High-Order Attention Neural Network (DHA-Net) and Principal Component Analysis Network (PCA-Net). Moreover, the evaluation results show that the DHPCNet gained an increased range of accuracy, sensitivity and specificity as 95.62%, 94.79%, and 95.86%.

Sodium channelopathies represent a leading monogenic cause of epilepsy, epileptic encephalopathy and autism spectrum disorder. Pathogenic variants in voltage-gated sodium channels can lead to either gain-of-function or loss-of-function, resulting in highly diverse clinical phenotypes associated with the same gene. In this case report, we aimed to discuss a patient who presented with afebrile seizures at 6 months of age and was diagnosed with 'self-limited infantile epilepsy (SeLIE)' following the identification of a gain-of-function pathogenic variant in the SCN8A gene, in light of current guidelines and consensus recommendations. Furthermore, considering recent advancements, we aimed to emphasize that bioinformatic software tools for assessing the functional impact of pathogenic variants in ion channels can serve as a crucial guide for clinicians in treatment selection.

Autism spectrum disorders (ASD) are frequently associated with sensory abnormalities, particularly altered pain sensitivity, which may manifest as either hypo- or hypersensitivity to painful stimuli. Despite the higher prevalence of ASD in males, few studies have investigated sex differences in pain sensitivity within animal models of autism. This study evaluated thermal and mechanical pain sensitivity in male and female rats at juvenile, pubertal and adult stages, using a model of autism induced by prenatal exposure to lipopolysaccharide (LPS). Reduced social behaviour, a critical behaviour impairment in autism, was assessed, and molecular analyses of Oprm1 gene expression and mu-opioid receptor (MOR-1) protein levels in the periaqueductal grey (PAG) were performed in adulthood. At weaning, both male and female offspring prenatally exposed to LPS exhibited reduced social behaviour, consistent with behavioural phenotypes observed in ASD models. In mechanical nociceptive tests, males and females showed similar pain sensitivity at weaning, whereas only males displayed decreased sensitivity at puberty and adulthood. In thermal tests, males showed reduced nociceptive responses across all ages, whereas females exhibited this pattern only during the juvenile and pubertal stages. Both sexes in the LPS group showed increased Oprm1 gene expression in the PAG; however, MOR-1 protein content was decreased in males and increased in females in adulthood. Thus, our model of autism-induced hypoalgesia via enabling the opioid system, mainly in male rats. Sexual dimorphism was observed in both pain tests and MOR-1 protein levels in adult rats, with female rats being less sensitive to pain.