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Avi (Abraham) Reichenberg , PhD

National Health Registers and Autism Research. Avi (Abraham) Reichenberg , PhD. Outline. Genetic and environmental factors in autism liability. Finding and ruling-out environmental risk factors for autism: Cross and multigenerational investigations. Mega registry studies.

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Avi (Abraham) Reichenberg , PhD

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  1. National Health Registers and Autism Research Avi (Abraham) Reichenberg, PhD

  2. Outline • Genetic and environmental factors in autism liability. • Finding and ruling-out environmental risk factors for autism: • Cross and multigenerational investigations. • Mega registry studies. • Building you own autism registry.

  3. A-B-C of twin studies A-B-C Example: Correlation between a trait (e.g., height) between two twins: MZcorr=0.5 DZcorr=0.2 Heritability= 2X(MZcorr-DZcorr)=0.6 • MZ twins share 100% of their genes • DZ twins share 50% of their genes • MZ/DZ ratio of a trait reflects etiological influences on that trait.

  4. Strong genetic contribution to autism liability Lichtenstein et al. Am J Psychiatry. 2012

  5. A new view on autism and related conditions Before After Slide: Joseph Buxbaum

  6. Genomic architecture of ASD • Common genetic variations (SNPs) acting together can increase risk for ASD • Related syndromes/ Chromosomal abnormalities • Rare genetic mutations(CNVs) alone may be considered causative

  7. Common variants and ASD Devlin et al., 2012

  8. Related syndromes

  9. Copy-number variation and ASD Devlin et al., 2012

  10. Don’t forget the environment! Lichtenstein et al. Am J Psychiatry. 2012

  11. The new view on autism and related conditions should also consider the environmental space

  12. The first (modern) register • The population register in Sweden dates back to the 17th century. • Requiring the names and dates of those born or passed away. • Created to increase the efficiency of tax collection and military recruitment. • According to the population census, the number of population in the country was 2,175,124, of whom 410,400 lived in the territory of Finland. • The population size was considerably lower than expected, and the information on population number was declared secret.

  13. MMR vaccination and autism

  14. Intrauterine growth Sandin et al. 2013

  15. SSRI and pregnancy outcome

  16. SSRI and Autism

  17. Folic Acid and Autism

  18. The challenges Self report vs. Independent observations/measurement

  19. Advancing maternal age Sandin et al. JAACAP 2012

  20. Advancing paternal age Hultman et al. Molecular Psychiatry (2011) 16, 1203-1212; doi:10.1038/mp.2010.121

  21. International Collaboration for Autism Registry Epidemiology (ICARE) • ICARE combines data from 6 population-based registries of AD/ASD with additional demographic and familial/perinatal data. • Sweden • Norway • Denmark • Finland • Israel • W Australia • US (California) – coming soon! • ~ 31,000 cases of ASD. • ~ 20,000 cases of autism. • ~ 3,000,000 non-cases Schendel et al. JADD 2013

  22. International Collaboration for Autism Registry Epidemiology Schendel et al. JADD 2013

  23. International Collaboration for Autism Registry Epidemiology Schendel et al. JADD 2013

  24. Federated database Schendel et al. JADD 2013

  25. Cross generational effects • Medications in pregnancy • Environmental toxins • Impaired growth • Preterm birth

  26. Benjamin Franklin and Multigeneration Effects • Ran away from home • His son, William had problematic family relationships with his children. • His grandson…….

  27. Why study multigenerational effects? • Utilizing Quasi Experimental Designs  Better understanding of confounding and causality. D'Onofrioet al. Child Dev. 2010 Lichtenstein et al. Am J Psychiatry. 2012

  28. Why study multigenerational effects? • Some risk factor disease associations may not be limited to events in a single generation.

  29. The new new thing

  30. The new new thing

  31. Health Registry-based Triad+ • Reliable AND valid (but sometime just valid) case-identification registries allowing for continuous follow up. • Linkable other population based registers • Service • Health • Demographics • Family relations • Biological materials • Analytic infrastructure • Epidemiologists • Psychologists/socielogists • Statisticians + Openness to collaborations + Access to data Cases Other registers Analytics Unique identification number used by all data sources and allowing individual linkage

  32. Acknowledgments International Collaboration of Autism Multigenerational FamIlial and Environmental Registry Epidemiology (ICARE) Risk for Autism (MINERvA) Network • Diana Schendel Christina Hultman • Sven Sandin MickiBresnahan • Kim Carter Ezra Susser • Richard Francis Mika Gissler • TheresGrønborgRaz Gross • MadyHornig Amanda Langridge • Anastesia Nyman Helen Leonard • Eric Parner Abdre Sourander • Camila Stoltenberg Paul Surén • Nina Gunnes Stephen Levine • Joseph Buxbaum Jonathan Mill • Alexander Kolevzon Jakob Christensen • David HougaardMadsHollegaard • YudiPawitanPaul Lichtenstein • Emma Frans Sebastian Lundstrom • Autism Speaks partner for ICARE: Michael Rosanoff NIH partners for MINERvA: Alice Kau, Deborah Hirtz, Cindy Lawler

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