Autism spectrum disorder (ASD) is a neurodevelopmental condition including incorrect functioning in communication, social interaction, and repetitive behavior. Global prevalence is estimated as 1-2%, with a predominance of men. Different pre- and perinatal, environmental, immunological, neurobiological, genetic, and epigenetic factors are involved in the etiology of ASD. The study aims to analyze genetic abnormalities in patients with ASD according to data from the current literature.
Materials And Methods
Studies available in the PubMed and Google Scholar databases were chosen through a literature search. Only papers published from 2020, available as full-text publications in English, with studies conducted on humans, original papers, or meta-analyses were included.
Results
AND
Discussion
The following types of genetic variation were identified: copy number variants, larger insertions, inversions, uniparental disomies, tandem repeat expansions, common single nucleotide polymorphisms, single nucleotide variants, short insertions/deletions, and mitochondrial variants. Epigenetic factors, like histone modifications, deoxyribonucleic acid (DNA) methylation, and micro ribonucleic acid might play an important role in ASD predisposition. Genes identified in the review were mainly involved in neurodevelopment, synaptic formation, neuronal migration, neurotransmission, glial proliferation, ubiquitination, chromatin remodeling, or transcription. ASD is described as a component of the phenotype in fragile X syndrome, tuberous sclerosis complex, neurofibromatosis type 1, Angelman, Phelan-McDermid, Smith-Lemli-Opitz syndromes, and chromosome trisomies. Current guidelines for genetic diagnosis of ASD recommend performing directed genetic studies in the first line (like multiplex ligation-dependent probe amplification - MLPA, analysis of FMR1 gene), in case of a negative result, chromosomal microarray as a routine method, then next-generation sequencing (NGS) panel testing, WES (whole exome sequencing), or even WGS (whole genome sequencing) as the last test.
Conclusions
Wider access to modern diagnostic methods has increased the number of ASD patients in whom the genetic etiology of the disorder has been uncovered. Knowledge of the genetic background would be applicable in the diagnosis, prevention, prognosis, and individualized treatment.
The study provides an integrated framework linking genetic variation to molecular dysfunction and clinical outcomes, offering valuable insights for future research and therapeutic development in pediatric neurology.
Varada Vidya Rani, Suryanarayana Reddy Kovvuri, D. Arya· Genetics and Molecular Resea...· 0 citations
INTRODUCTION
Autism Spectrum Disorder (ASD) is a lifelong condition; however, literature regarding its manifestation in old age remains scarce.
OBJECTIVE
To synthesize descriptive studies on the clinical characteristics of ASD in the elderly, aiming to improve diagnosis and quality of life.
METHODOLOGY
This is a scoping review based on the Joanna Briggs Institute guidelines and reported according to PRISMA-ScR. Searches were conducted in MEDLINE/PUBMED and SCIELO databases, covering the period from 2011 to 2026, focusing on descriptive studies with participants aged over 50 years. Ultimately, 18 articles were selected and analyzed.
RESULTS
The evolution of autism symptoms proved to be complex and non-linear; while some behaviors and psychiatric symptoms tend to decline with age, social difficulties may persist or worsen. From a cognitive perspective, data suggest an aging pattern parallel to neurotypicals, although there are reports of specific deficits in working memory and attention. An alarming burden of psychiatric comorbidities was identified, highlighting depression and high rates of suicidality, as well as significant clinical comorbidities.
CONCLUSION
Older adults with ASD constitute a vulnerable population. There is an urgent need for prospective longitudinal studies to adequately map the aging trajectories of this population.
J. P. S. Gontijo, Marcelo H S S Martins, L. M. Alves· Trends in Psychiatry and Psy...· 0 citations
Clinical heterogeneity among children with NRXN1 deletions illustrates clinical heterogeneity among children with autism spectrum disorder and supports the need for larger studies to better define genotype-phenotype relationships.
Samira Said AlHousni, A. Idris, Watfa Al-Mamari et al.· Sultan Qaboos University Med...· 0 citations
Autism spectrum disorder is a heritable neurodevelopmental condition affecting approximately 3% of children that presents with core behavioral features and a range of possible comorbidities, including intellectual disability. While common variants contribute substantially to autism liability, the discovery of specific autism-associated genes has largely been driven by studies of rare and de novo variants. Many of these genes are also linked with broadly defined developmental disorders, but their involvement in other conditions has not been mapped at scale. Here, we analyze autosomal rare coding variation from 62,429 individuals with autism from research and clinical cohorts to identify 253 autism-associated genes at an estimated false discovery rate < 0.001. We cluster them based on association evidence from large-scale studies of developmental disorders, schizophrenia, bipolar disorder, and epilepsy, generating six clusters of genes with differing biological pathway enrichments and patterns of comorbidities. Investigating rare variant associations in the population using the UK Biobank and All of Us, we identify autism-associated genes displaying pleiotropy across physiological systems. In addition, we report 497 genes impacting development in a meta-analysis with 26,109 published developmental disorders samples. Collectively drawing upon data from over 1.5 million individuals, our study finds that rare variants across hundreds of genes contribute to autism with variable phenotypic outcomes.
F. Satterstrom, C. Auwerx, J. Fu et al.· medRxiv· 0 citations
Autism spectrum disorder (ASD) comprises neurodevelopmental conditions characterized by difficulties in social communication and interaction, together with restricted and repetitive behaviours. Assisted reproductive technology (ART) includes methods used to achieve pregnancy when natural conception is difficult or impossible, and its use has increased markedly in developed countries. Previous studies have suggested a possible association between ART and neurodevelopmental disorders, including ASD, but findings remain inconclusive. The aim of this study was to systematically evaluate the association between ART and ASD by reviewing large population-based cohort studies and performing a meta-analysis. Eligible studies were peer-reviewed cohort studies published in reputable journals, examined ART as the exposure and ASD as the outcome, included more than 500,000 births, provided effect estimates or sufficient data for their calculation, and adjusted for comparable confounders, including maternal age, paternal age, parity, and sociodemographic factors. Five cohort studies, encompassing over 12 million births, met the inclusion criteria. Using a random-effects model, the pooled analysis yielded a hazard risk ratio of 1.26 (95% CI 1.08–1.49), indicating a statistically significant association, although between-study heterogeneity was substantial (I
2
= 74%). These findings suggest a modest association that may be shaped substantially by underlying subfertility and specific procedures rather than ART exposure alone.
Iñigo Mancholas Peña, J. Bakoš· Bratislava Medical Journal· 0 citations
Autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs) are characterized by a complex genetic architecture involving both rare high-impact variants and cumulative low-effect alterations. The contribution of borderline copy number variants (CNVs) to disease susceptibility and phenotypic variability remains incompletely understood. Reflecting a real-world clinical setting rather than a prospectively recruited research cohort, we performed a retrospective analysis of a tertiary care registry comprising 328 individuals referred for suspected ASD or NDDs who underwent array comparative genomic hybridization (a-CGH), identifying 612 CNVs classified according to ACMG/ClinGen guidelines. CNVs were evaluated by type, size, genomic distribution, and clinical correlation, and patients were stratified based on CNV burden and the presence of borderline variants. Duplications were more frequent than deletions, and medium-sized CNVs (100–500 kb) were the most common. Borderline CNVs represented the largest category. Within this descriptive cohort, increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs. Individuals with isolated ASD showed a lower burden and enrichment of small borderline variants, which often co-occurred alongside CNVs. In contrast, severe phenotypes were frequently associated with single large pathogenic variants. Recurrent loci included 15q11.2–q13, 16p11.2, and 22q11.21. Overall, these exploratory observations from a real-world clinical registry illustrate how cumulative genomic burden and borderline CNVs co-occur across different neurodevelopmental presentations, providing descriptive context for future mechanistic studies.
M. R. Di Iorio, Ilaria La Monica, Antonio Imperatore et al.· International Journal of Mol...· 0 citations