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.
R. Kurmashev· International Journal of Dev...· 0 citations
ABSTRACT Early autism identification in children aged 0–5 years is often discussed in terms of screening accuracy, yet consequential delay frequently occurs across the pathway from first concern to referral, diagnostic assessment, and support. This critical narrative review examines early autism identification as a pathway problem rather than as a single testing event. It synthesizes evidence on developmental surveillance, autism‐specific screening, parental and clinician concern, referral conversion, diagnostic waiting, service capacity, inequity, family burden, and pre‐diagnostic support. Screening tools can identify an elevated likelihood of autism and may accelerate diagnosis for some screen‐positive children, but they cannot confirm diagnosis or safely exclude autism when concern persists, and they do not compensate for failures in follow‐up, referral, assessment capacity, or support initiation. Recent evidence supports a cautious interpretation of universal autism screening because diagnostic stability, screening accuracy, and intervention benefit in screen‐detected children remain uncertain. Comparative evidence on the Modified Checklist for Autism in Toddlers, Revised with Follow‐Up suggests context‐dependent performance, including variable sensitivity, low or inconsistent positive predictive value, and age‐dependent accuracy. Multicultural surveillance and implementation studies indicate that adding tools without aligning workflow, language support, follow‐up systems, and service capacity may not improve pathway performance. The review argues that early autism identification should be evaluated through linked quality measures: response to concern, repeated surveillance following negative or ambiguous screening, referral completion, time to diagnostic assessment, support initiation before diagnostic closure, and equity of access. The clinical priority is not a perfect screening instrument in isolation, but faster, more coherent, and more equitable local pathways that translate concern into timely action.
R. Kurmashev, Mavile Karaieva· Pediatric Investigation· 0 citations
The central argument is that UBE3A should not be interpreted as a general explanation for autism, but as a mechanistically informative model for a defined subset of neurodevelopmental disorders in which parent-of-origin effects and copy-number state are central.
R. Kurmashev· American Journal of Medical...· 0 citations