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Fragile X Syndrome and Autism

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Comprehensive Guide to Autism

Abstract

Fragile X syndrome (FXS) is a neurodevelopmental disorder resulting from a CGG repeat expansion in the untranslated portion of the fragile X mental retardation 1 (FMR1) gene that causes absence of the FMR1 protein, fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that regulates the protein production of a number of other genes that are critical for proper brain development and function. The high incidence of autism spectrum disorders (ASDs) in individuals with FXS, accompanied by the fact that FXS is responsible for 2–6 % of cases of ASD, has led researchers to examine the possibility of a common neurobiological mechanism that may underlie both conditions. We now know that many of the genes that are regulated by FMRP are also genes that are implicated in some individuals with ASD, providing evidence for a common molecular mechanism between FXS and a subset of cases of ASD. These studies have mutually informed our understanding of FXS and ASD and resulted in the advancement of targeted pharmacological treatments that may benefit FXS and non-FXS forms of ASD. This chapter provides a broad summary of the association between FXS and ASD, including diagnostic, genetic, molecular, and clinical aspects of the each disorder.

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Authors and Affiliations

  1. Department of Psychology, Stanford University, Jordan Hall, Stanford, CA, 94305, USA

    Faraz Farzin

  2. Department of Brain Sciences, Massachusetts Institute of Technology, McGovern Institute for Brain Research, Cambridge, MA, USA

    Kami Koldewyn

Authors
  1. Faraz Farzin
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  2. Kami Koldewyn
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Correspondence to Faraz Farzin .

Editor information

Editors and Affiliations

  1. Department of Biomedical Sciences, University of Westminster, Faculty of Science & Technology, London, United Kingdom

    Vinood B. Patel

  2. Nutritional Sciences Division and Genomics Centre, King's College London, London, United Kingdom

    Victor R. Preedy

  3. Faculty of Society and Health, Buckinghamshire New University, Middlesex, United Kingdom

    Colin R. Martin

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© 2014 Springer Science+Business Media New York

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Farzin, F., Koldewyn, K. (2014). Fragile X Syndrome and Autism. In: Patel, V., Preedy, V., Martin, C. (eds) Comprehensive Guide to Autism. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-4788-7_8

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  • DOI: https://doi.org/10.1007/978-1-4614-4788-7_8

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-4787-0

  • Online ISBN: 978-1-4614-4788-7

  • eBook Packages: Behavioral Science

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