Fetal and postnatal metal dysregulation in autism

Manish Arora (), Abraham Reichenberg, Charlotte Willfors, Christine Austin, Chris Gennings, Steve Berggren, Paul Lichtenstein, Henrik Anckarsäter, Kristiina Tammimies and Sven Bölte ()
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Manish Arora: Icahn School of Medicine at Mount Sinai
Abraham Reichenberg: Icahn School of Medicine at Mount Sinai
Charlotte Willfors: Center of Neurodevelopmental Disorders (KIND)
Christine Austin: Icahn School of Medicine at Mount Sinai
Chris Gennings: Icahn School of Medicine at Mount Sinai
Steve Berggren: Center of Neurodevelopmental Disorders (KIND)
Paul Lichtenstein: Karolinska Institutet
Henrik Anckarsäter: Institute of Neuroscience and Physiology, University of Gothenburg
Kristiina Tammimies: Center of Neurodevelopmental Disorders (KIND)
Sven Bölte: Center of Neurodevelopmental Disorders (KIND)

Nature Communications, 2017, vol. 8, issue 1, 1-10

Abstract: Abstract Genetic and environmental factors contribute to the etiologies of autism spectrum disorder (ASD), but evidence of specific environmental exposures and susceptibility windows is limited. Here we study monozygotic and dizygotic twins discordant for ASD to test whether fetal and postnatal metal dysregulation increases ASD risk. Using validated tooth-matrix biomarkers, we estimate pre- and post-natal exposure profiles of essential and toxic elements. Significant divergences are apparent in metal uptake between ASD cases and their control siblings, but only during discrete developmental periods. Cases have reduced uptake of essential elements manganese and zinc, and higher uptake of the neurotoxin lead. Manganese and lead are also correlated with ASD severity and autistic traits. Our study suggests that metal toxicant uptake and essential element deficiency during specific developmental windows increases ASD risk and severity, supporting the hypothesis of systemic elemental dysregulation in ASD. Independent replication in population-based studies is needed to extend these findings.

Date: 2017
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DOI: 10.1038/ncomms15493

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