Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

1st Edition - April 30, 2016

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  • Editors: Carlo Sala, Chiara Verpelli
  • Hardcover ISBN: 9780128001097
  • eBook ISBN: 9780128005330

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Description

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms.

Key Features

  • Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities
  • Describes the genes implicated in autistic spectrum disorders and their function
  • Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies
  • Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture

Readership

Graduate and undergraduate students in neuroscience and biomedical sciences, researchers new to the field, and post-doctoral fellows and clinicians seeking a resource on synaptic dysfunction in autism spectrum disorder

Table of Contents

  • Part 1. Autism spectrum disorders and Intellectual disability: Genetic and Non-Genetic Causes
    1. Experimental tools for the identification of specific genes in autism spectrum disorders and intellectual disability
      Yiping Shen and Xiaohong Gong
    2. Genetic causes of autism spectrum disorders
      Guillaume Huguet and Thomas Bourgeron
    3. Genetics of X-linked intellectual disability
      Luigi Boccuto and Charles E. Schwartz
    4. Genetic causes of intellectual disability: the genes controlling cortical development
      Yoann Saillour and Jamel Chelly
    5. Immune Dysfunction in Autism Spectrum Disorder
      Natalia V. Malkova and Elaine Y. Hsiao

    Part 2. Function of Mutated Genes in Intellectual Disability (ID) and Autism
    6. Synapse proteomes and disease: the MASC paradigm
      Àlex Bayés and Seth GN Grant
    7. The Function of MeCP2 and its Causality in Rett Syndrome
      Janine Lamonica and Zhaolan Zhou
    8. FMRP and the pathophysiology of fragile X syndrome
      Stephanie A. Barnes, Sophie R. Thompson, Peter C. Kind and Emily K. Osterweil
    9. X-linked ASDs and ID gene mutations
      Edoardo Moretto, Maria Passafaro and Silvia Bassani
    10. Shank3, Shank2, Shank1 mutations in ID and ASD
      Chiara Verpelli and Michael J. Schmeisser
    11. Mutations in synaptic adhesion molecules
      Jaewon Ko, Caterina Montani, Carlo Sala and Eunjoon Kim
    12. CNTNAP2 mutations in autism
      Olga Peñagarikano
    13. Planar cell polarity (PCP) gene mutations in Autism Spectrum Disorder, Intellectual Disabilities and Related Deletion/Duplication Syndromes
      Nathalie Sans, Jérôme Ezan, Maité M. Moreau and Mireille Montcouquiol
    14. Protocadherin mutations in neurodevelopmental disorders
      Duyen Pham, Chuan Tan, Claire Homan, Lachlan Jolly and Jozef Gécz
    15. Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy, intellectual disability, and autism
      Kazuhiro Yamakawa
    16. Oxytocin in the developing brain: relevance as disease-modifying treatment in autism spectrum disorders
      Bice Chini, Marianna Leonzino and Valentina a Gigliucci

    Part 3. Experimental Models, Clinicaland Pharmacological Aspects of Major ASDs and Intellectual Disability Syndromes
    17. Mouse Behaviour and Models for Autism Spectrum Disorders
      Maria Luisa Scattoni
    18. The iPSC technology to study neurodevelopmental disorders
      Alysson Renato Muotri
    19. Rett syndrome: clinical aspects
      Daniel Tarquinio and Alan K. Percy
    20. Fragile-x syndrome
      Elizabeth Berry-Kravis and Anne Hoffmann
    21. Phelan-McDermid syndrome: clinical aspects
      Katy Phelan, Luigi Boccuto and Sara Sarasua
    22. Epilepsy associated with ASD and intellectual disability
      Carla Marini

Product details

  • No. of pages: 394
  • Language: English
  • Copyright: © Academic Press 2016
  • Published: April 30, 2016
  • Imprint: Academic Press
  • Hardcover ISBN: 9780128001097
  • eBook ISBN: 9780128005330

About the Editors

Carlo Sala

Carlo Sala
Dr. Carlo Sala is a Senior Researcher at the Neuroscience Institute within the National Research Council of Italy, and is also affiliated with Department of Biomedical Science and Translational Medicine at the University of Milano. He has previously edited a Synaptic Plasticity volume for Springer, and is author and co-author of over eighty peer-reviewed papers published in international scientific journals in the field of neuroscience. His laboratory is interested in understanding the function of various proteins which regulate neuronal synapse formation and plasticity, and their association with ASDs and intellectual disability. Among other valuable research contributions, his research group was the first to connect synapse function to mutations in SHANK genes, which are one of the most common genetic causes of autism.

Affiliations and Expertise

CNR Institute of Neuroscience, Milano, Italy

Chiara Verpelli

Chiara Verpelli
Dr. Chiara Verpelli is affiliated with the Neuroscience Institute at the National Research Council of Italy, and is also affiliated with Department of Biomedical Science and Translational Medicine at the University of Milano. With interests in chemical and pharmacological technology as well, she has co-authored multiple papers in high-impact international scientific journals. Her research focus is to understand the genes involved in synapse development and function, and more recently the use of patient-specific stem cells to study neurodevelopmental diseases including ASD and intellectual disability.

Affiliations and Expertise

CNR Institute of Neuroscience, Milano, Italy

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