Genetic Factors in the Etiology of Autism: A Case Study in Buena Fé Canton

Abstract

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition marked by enduring impairments in social reciprocity, pragmatic communication, and behavioral flexibility. Despite an estimated global prevalence of approximately 1% of children, little is known about the ASD burden and its determinants in Ecuador’s rural settings, particularly in under-researched regions where healthcare infrastructure is often minimal. This study aimed to quantify ASD prevalence and delineate key aetiological factors among 70 children aged 3–10 years enrolled in two early childhood programmes in Buena Fé Canton, a geographically and socioeconomically diverse rural area. Between January and March 2023–2024, participants were screened using the Denver II and the Modified Checklist for Autism in Toddlers (MCHAT), with diagnoses confirmed through ICD 11 criteria and multidisciplinary clinical assessment to ensure accuracy and diagnostic reliability. Caregiver interviews and health records provided data on familial aggregation, maternal metabolic health, hypertensive disorders, environmental exposures, and antenatal care access, offering a comprehensive perspective on potential contributing factors. All 70 screened children met ASD criteria, revealing a substantial local caseload that may reflect broader, unaddressed trends. Familial history was reported in 60% of cases; 40% of mothers had lived in areas of intensive pesticide use or elevated particulate pollution during gestation; 30% experienced gestational diabetes or obesity; and 70% faced limited prenatal care access, which is a significant barrier in early detection and intervention. These findings underscore a multifactorial aetiology in which inherited susceptibility converges with modifiable gestational and socio-economic stressors. Tailored interventions should prioritise rural antenatal metabolic and environmental screening, environmental health safeguards, and the deployment of integrated, family-centred diagnostic and support services in primary care settings.