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

摘要: Background: Autism Spectrum Disorder (ASD) is a pervasive and clinically heterogeneous neurodevelopmental disorder characterized by deficits in social communication interaction skills, repetitive stereotyped behaviours. It known that ASD has strong genetics component, but heritability estimates of 50-80% suggest modifiable non-genetic factors may play an important role the onset disorder. Recently, pre-, peri post-natal exposure to variety environmental been implicated ASD. Yet, comprehensive assessment exposures this pathology, using large population datasets, still lacking. The objective study was pilot tool Portugal. Methods: To examine Portuguese children with ASD, we translated, adapted piloted Early Life Exposure Assessment Tool (ELEAT). ELEAT originally developed assess studies disorders. questionnaire filled mothers enquiring about Demographic Information, Maternal Conditions/Medical Interventions, Breastfeeding Child Diet, Supplements, Lifestyle, Home Environment, Occupation Exposures. gathers information along key phases for early neurodevelopment, from 3 months prior conception, pregnancy, labor delivery first year life child. Two focus groups were realized, one typically- developing another order discuss opinion regarding comprehensiveness relevance. Results: majority sure their answers all modules, small fraction group reporting difficulties Occupations/Exposures module. Most considered be little too long, generally found instructions clear and, most importantly, agreed questions important. Conclusions: Integration feedback will allow us enhance optimize its usage Portuguese-speaking communities, improving capacity assemble accurate data diverse cultural settings, extended larger datasets. Combined genetic clinical data, contribute identification lifestyle risk Such evidence eventually provide opportunity disease prevention or reduced severity mitigating when susceptibility identified life. Keywords: spectrum disorder, gene-environment interactions