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.
- 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
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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
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.
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.