Adapting the ELEAT (Early Life Exposure Assessment Tool) to Portugal – a pilot study to tackle gene-environment interactions in Autism Spectrum Disorder

Abstract

Background: Autism Spectrum Disorder (ASD) is a pervasive and clinically heterogeneous neurodevelopmental disorder by deficits in social communication and interactions skills, and repetitive and stereotyped behaviours. It has becomes apparent that ASD has a strong genetics component, however, the level of heritability is still debated, suggesting that modifiable non-genetic factors may play an important role in ASD. Pre-, peri and post-natal exposure to a variety of environmental factors have previously been implicated in its etiology. However, the comprehensive assessment of environmental exposure in ASD in large datasets from variable environmental settings is still lacking. Methods: To examine the role of environmental exposures in a population of Portuguese children with ASD, we translated, adapted and are piloting the Early Life Exposure Assessment Tool (ELEAT). The ELEAT was originally developed at the University of California Davis to assess environmental factors in studies of neurodevelopmental disorders. It is a questionnaire filled by mothers of children with ASD, enquiring about Demographic Information, Maternal Conditions/ Medical Interventions, Breastfeeding and Child Diet, Maternal Diet, Supplements, Lifestyle, Home and Environment, Environment, Occupation and Exposures. The ELEAT gathers information about ! 2 environmental exposure along key phases for early neurodevelopment, including 3 months prior to conception, pregnancy, labor and delivery and the first year of life of the child. Results:The large majority of mothers were sure about their answers for all modules, with some clear difficulties reported only for the module Occupations/Exposures for a small fraction of the group. Most of the mothers considered the ELEAT to be a little too long, but generally found that the instructions were clear and, most importantly, agreed that the questions were important. Conclusions:Integration of the pilot feedback will allow us to enhance the tool and optimize its usage in Portuguese-speaking communities, improving its capacity to assemble accurate environmental data from diverse cultural settings, and to be extended to larger population datasets.Combined with genetic and clinical data, the ELEAT will contribute to the identification of modifiable lifestyle and environmental risk factors for ASD. Such evidence may eventually provide the opportunity for disease prevention or reduced severity by mitigating exposure when genetic susceptibility is identified early in life.