Neuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability / Carlo Sala, Chiara Verpelli.

Format:

Book

Author/Creator:

Sala, Carlo, author.

Verpelli, Chiara, author.

Language:

English

Subjects (All):

Autism in children--Diagnosis.

Autism in children.

Autism in children--Treatment.

Autism Spectrum Disorder--genetics.

Neurodegenerative Diseases--genetics.

Medical Subjects:

Autism Spectrum Disorder--genetics.

Neurodegenerative Diseases--genetics.

Physical Description:

1 online resource (396 p.)

Edition:

1st ed.

Place of Publication:

Amsterdam, Netherlands : Academic Press, 2016.

Summary:

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

Contents:

Front Cover; NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY; Series page; NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY; Copyright; Contents; List of Contributors; Preface; Acknowledgments; I - 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 Disab ...; POSITIONAL MAPPING; Linkage Mapping; Balanced Translocation Breakpoint Mapping; Autozygosity Mapping

CANDIDATE GENE APPROACHCOPY NUMBER VARIATIONS; Genome-wide CNV Detection Methods; Targeted CNV Detection Methods; NEXT-GENERATION SEQUENCING; Next-Generation Sequencing Platforms; Whole-Genome Sequencing Studies in ID and ASD; Exome Sequencing in ID and ASD; CONCLUSION; References; 2 - Genetic Causes of Autism Spectrum Disorders; INTRODUCTION; TWIN AND FAMILY STUDIES IN ASD; FROM CHROMOSOMAL REARRANGEMENTS TO COPY NUMBER VARIANTS IN ASD; FROM CANDIDATE GENES TO WHOLE EXOME/GENOME SEQUENCING STUDIES IN ASD; COMMON VARIANTS IN ASD; THE GENETIC ARCHITECTURE OF ASD

BIOLOGICAL PATHWAYS ASSOCIATED WITH ASDPERSPECTIVES; Acknowledgments; References; 3 - Genetics of X-Linked Intellectual Disability; INTRODUCTION; HISTORY OF XLID; CLASSIFICATION OF XLID; Syndromal XLID; Nonsyndromal XLID; Genotype-Phenotype Correlation: Redefining XLID; DISEASE MECHANISMS; Presynaptic Vesicle Cycling and Transport; Cytoskeletal Dynamics; Cell-Adhesion and Transsynaptic Signaling; Translational Regulation, Protein Degradation, and Turnover; FUTURE CHALLENGES AND THERAPEUTIC APPROACHES; References

4 - Genetic Causes of Intellectual Disability: The Genes Controlling Cortical DevelopmentINTRODUCTION; DEVELOPMENT OF THE MAMMALIAN BRAIN CORTEX; GENETIC BASES OF CORTICAL MALFORMATIONS AND THEIR CONTRIBUTION TO BETTER UNDERSTANDING NORMAL CORTICAL DEVELOPMENT; Malformations Resulting From Abnormal Neurogenesis; Malformations Resulting From Neuronal Migration Defects; Malformations Thought to Be Related to Late Migration and/or Postmigrational Defects; Malformations Resulting From Pial Basement Membrane Defects: Type II Lissencephaly (or Cobblestone Lissencephaly); DISCUSSION

ID With Malformations of Cortical Development versus ID Without Apparent MalformationsMalformations of Cortical Development and ID: What Are the Perspectives to Reverse Cellular and Neurodevelopmental Defects?; Acknowledgments; References; 5 - Immune Dysfunction in Autism Spectrum Disorder; INTRODUCTION; IMMUNE ABNORMALITIES IN ASD; The Neuroimmune System; The Peripheral Immune System; Cellular Immunity; Blood Cytokines; Immunoglobulins; The Enteric Immune System; Neuroimmune Interactions; Peripheral Immune System-Brain Interactions; IMMUNE-RELATED SUSCEPTIBILITY FACTORS FOR ASD

Immune-Related Environmental Risk Factors

Notes:

Description based upon print version of record.

Includes bibliographical references at the end of each chapters and index.

Description based on print version record.

ISBN:

0-12-800533-5