Early Life Immune Function in Autism- Combined Analyses of Registerdata, Genetics and Neonatal Biomarkers Aiming at Preventive Strategies.

Autism spectrum disorders (ASD) constitute a highly heterogeneous group plausibly caused by a varying range of genetic vulnerabilities and environmental exposures during early life.

To identify causal factors in ASD we have collected neonatal dried blood spots (4500 incl controls and unaffected siblings) and maternal sera (n=1000) from individuals diagnosed with ASD along with data on covariates from linked registers.

Recent advances, made possible by this unique collection, highlight risk for ASD associated with innate immunity in neonatal life and postnatal infections.

We aim to further explore both the innate and adaptive immune systems; acute phase proteins, complement factors (CF) and immunoglobulins (Ig) in relation to ASD. These factors are involved in immune defense but importantly also in developmental processes of the brain. Alternatively, they can modulate the immune defense, thereby increasing risk for postnatal infections.

Contribution of genetic variation to levels of immune factors will be explored to evaluate if associations are better explained by inheritance. Data on APP is in place and genotyping is ongoing.

Funding is sought to measure Ig classes and CF using multiplex assays and explore risk for different subgroups of ASD to account for the heterogenicity.

To assess if there is any causal role of environmental factors in ASD is critical for the development of tailored preventive strategies and an important step towards precision prevention.