Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Autism Spectrum Disorders are lifelong neurodevelopmental disorders with early clinical presentation that 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 its high prevalence and insidious nature, there remains to be an extensive resource that provides information about the background and state of current research in the autism field. The first edition of Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. This volume discusses these 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 ASDs 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*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 INDICE: Part 1. Autism spectrum disorders and Intellectual disability: Genetic and Non-Genetic Causes Chapter 1: Genetic causes of autism Chapter 2: Genetics of ID Chapter 3: Non-genetic causes of autism Chapter 4: Genetics of X-linked ID Chapter 5: Genetics of SHANK gene mutations Part 2. Function of Mutated Genes in Intellectual Disability (ID) and Autism Chapter 6: Shank3, Shank2, Shank1 mutations Chapter 7: FMRP function Chapter 8: FMRP pharmacology Chapter 9: Oxytocin receptor mutations Chapter 10: Epac2 mutations Chapter 11: SynGAP mutations Chapter 12: X-linked ID gene mutations Chapter 13: Synaptic genes and cognition Chapter 14: SCRIBBLE mutations Chapter 15: Neuroligin/neurexin mutations Chapter 16: MeCP2 deletion and synaptic dysfunction Chapter 17: MeCP2 deletion and visual cortex dysfunction Chapter 18: Scn1a and Dravet syndrome Part 3. Experimental Models and Clinical Aspects of Major ASDs and Intellectual Disability Syndromes Chapter 19: Mouse behavior and models for autism Chapter 20: iPS cell technology Chapter 21: Epilepsy associated with ASD and intellectual disability Chapter 22: Phelan-McDermid syndrome (Shank3) Chapter 23: Rett syndrome Chapter 24: Fragile X syndrome

• ISBN: 978-0-12-800109-7
• Editorial: Academic Press
• Encuadernacion: Cartoné
• Páginas: 600
• Fecha Publicación: 13/05/2016
• Nº Volúmenes: 1
• Idioma: Inglés