Abstract

Autism is a neuro-developmental disorder of unknown cause. Both genetic and environmental influences are claimed to contribute to the etiology of autism. Several studies were done to determine the factors that contribute to the expression of the symptoms. We studied genetic, epigenetic and environmental factors that may influence the neurodevelopmental alteration that can cause vulnerability to autism. We did a controlled study on 44 patients who volunteered to participate at two Egyptian health clinics over 10 months duration. Full clinical evaluation, Cytogenetic analysis, biocard celiac test were done to detect anti-t TG Ig A antibodies for gluten sensitivity test; and quantase neonatal phenylalanine screening was done to detect the phenylalanine level in blood using ELISA. A part of significant positive family history, and no significant association were found between autism and the studied parameters. This study points to the important role of genetic susceptibility compared to the environmental factors and the role of family studies for determining the susceptible individuals to autism.

Key words: Autism, genetics and environmental interaction.