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Neuroanatomy and Neuropathology of Autism Spectrum Disorder in Humans

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Part of the book series: Advances in Anatomy, Embryology and Cell Biology ((ADVSANAT,volume 224))

Abstract

Autism spectrum disorder (ASD) is a lifelong heterogeneous neurodevelopmental condition that is associated with differences in brain anatomy and connectivity. Yet, the molecular and cellular mechanisms that underpin the atypical developmental of the brain in ASD remain poorly understood. Here, we review the findings of in vivo neuroimaging studies examining the time course of atypical brain development in ASD and relate the different neurodevelopmental stages that are atypical in ASD to the known neurobiological mechanisms that drive the maturation of the typically developing brain. In particular, we focus on the notion of ‘early brain overgrowth’ in ASD, which may lead to differences in the formation of the brain’s micro- and macro-circuitry. Moreover, we attempt to link the in vivo reports describing differences in brain anatomy and connectivity on the macroscopic level to the increasing number of post-mortem studies examining the neural architecture of the brain in ASD on the microscopic level. In addition, we discuss future directions and outstanding questions in this particular field of research and highlight the need for establishing the link between micro- and macro-pathology in the same set of individuals with ASD based on advances in genetic, molecular and imaging techniques. In combination, these may proof to be invaluable for patient stratification and the development of novel pharmacotherapies in the future.

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Acknowledgements

This work was supported by the Autism Imaging Multicentre Study Consortium funded by Medical Research Council UK Grant (G0400061) and EU-AIMS, which receives support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, resources of which are composed of financial contributions from the European Union’s Seventh Framework Programme (P7/2007–2013), from EFPIA companies in kind contribution and from Autism Speaks. CE also gratefully acknowledges support from the German Research Foundation (DFG) under the Heisenberg Programme (grant number EC480/1-1 and EC480/2-1). MJS was further supported by the Baustein programme of Ulm University (L.SBN.0081), the Care-for-Rare Foundation and the Elite programme of the Baden-Wuerttemberg Foundation. Moreover, the authors would like to thank the National Institute for Health Research Biomedical Research Centre for Mental Health and the Dr Mortimer and Theresa Sackler Foundation.

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Correspondence to Christine Ecker .

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© 2017 Springer International Publishing AG

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Ecker, C., Schmeisser, M.J., Loth, E., Murphy, D.G. (2017). Neuroanatomy and Neuropathology of Autism Spectrum Disorder in Humans. In: Schmeisser, M., Boeckers, T. (eds) Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Advances in Anatomy, Embryology and Cell Biology, vol 224. Springer, Cham. https://doi.org/10.1007/978-3-319-52498-6_2

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  • DOI: https://doi.org/10.1007/978-3-319-52498-6_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-52496-2

  • Online ISBN: 978-3-319-52498-6

  • eBook Packages: MedicineMedicine (R0)

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