EXPLORING THE RISING PREVALENCE OF AUTISM SPECTRUM DISORDER: GENETIC AND ENVIRONMENTAL FACTORS, DIAGNOSTIC APPROACHES, AND INNOVATIVE THERAPIES

Abstract

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by impairments in communication, behavior, and social interaction. Evidence documenting global prevalence in the last decade shows noteworthy increases, allowing researchers to narrow in on biological and anthropogenic drivers of the observed trends. Hence, this review focuses on the available literature from 2016 to 2025 on the genetic and environmental drivers of the condition, novel constructs in the diagnosis of the condition, and contemporary literature on the treatment of the condition. This review was done systematically in keeping with the PRISMA 2020 guidelines. Literature published in the years 2016 to 2025 which was available on PubMed, Scopus, Web of Science, and Embase. Of the expected fifteen studies, only thirteen fit the full criteria and were included. These studies focused on the genetic, environmental, diagnostic, and interventional components. Of the studies included in this review, there were claims of the heritability of the condition falling between the ranges of seventy to ninety percent with claims there were also other rare polygenetic correlations and epigenetic factors like DNA methylation and even factors of histone modification. Certain environmental factors like the maternal metabolic condition, maternal immune activation, older parental age as well as even maternal smoking factors, were shown to have altered neurodevelopment with the smoking and presumed was no risk (RR 1.0, 95% CI 0.95-1.08). Advances in diagnosis that used artificial intelligence were reported to be above 90% which allowed conditions to be diagnosed earlier. With treatment, there was low to moderate changes observed which have been reported in other studies to suggest the changes were probably positive. Pooled effect size 0.6, 95% CI 0.49-0.68. Currently there are more studies under review that suggest the changes observed from neurocircuit technologies, and from therapies which focused on epigenetics were probably to be positive. The rising ASD presentment appears to correlate both with improved acknowledgement and genuine clinical complexity from the interaction of both gene and environment dynamics.