Adapting the Eleat (Early Life Exposure Assessment Tool) to Portugal – a Pilot Study to Tackle Gene-Environment Interactions in Autism Spectrum Disorder

Background: Genetic factors account for 50 to 80% of Autism Spectrum Disorder (ASD) risk, 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.

Objectives: 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).

Methods: The ELEAT was originally developed at the University of California Davis to assess environmental factors in studies of neurodevelopmental disorders. It is a questionnaire completed 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 environmental exposure along key phases for early neurodevelopment, including 3 months prior to conception, pregnancy, labor and delivery and the first year of life. Given cultural similarities, an ELEAT version adapted to the UK was translated into Portuguese. Cross-cultural problems that might compromise its validity are minimized by European similarities regarding lifestyle, habits, dietary, household and other daily items, comparable access to healthcare and education, as well as employment and infrastructure, and no major cultural adaptations were made. After translation, the ELEAT was piloted in a group of mothers of typically-developing and ASD children, ranging from 1 to 8 years. All mothers had a university degree, and were between 35 and 44 years old. Feedback was obtained from the mothers regarding clarity, length and relevance of the questions, using the inbuilt Evaluation Instrument.

Results: Concerning length, 55% of the mothers considered the ELEAT very long, and 45% considered it slightly long. In a Lickert-type scale, 54% and 36% of the mothers agreed/slightly agreed that the instructions were clear. 36% and 64% agreed/slightly agreed that they were sure about their answers. In four modules (Maternal Condition/Medical Interventions, Breastfeeding, Maternal Diet and Home Environment) between 72% and 91% of the mothers reported high certainty concerning their given answers. Only in Occupation and Exposures did the mothers express lower confidence, with only 36% reporting high certainty. Finally, 64% agreed/slightly agreed that the questions were important, but 27% were neutral. In group discussions similar concerns were reported regarding the length and complexity of the questionnaire, but the main positive conclusions were that the questions were direct and well written.

Conclusions: Integration of the pilot feedback will allow us to enhance the tool for use in Portuguese-speaking communities, improving its capacity to assemble accurate environmental data from diverse cultural settings, and to extend 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.