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Preface; Contents; Chapter 1: Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics; 1.1 Introduction; 1.2 From Chromosomal Rearrangements to Copy Number Variants in ASD; 1.3 From Candidate Genes to Whole Exome and Genome Sequencing Studies in ASD; 1.4 Rare and Common Variants in ASD; 1.5 Anatomy of ASD Genes; 1.6 From Genetics to Pathways Associated with ASD; 1.7 Protein Synthesis and Synaptic Plasticity; 1.8 Conclusions; References; Chapter 2: Neuroanatomy and Neuropathology of Autism Spectrum Disorder in Humans; 2.1 Introduction
2.2 Early Brain Overgrowth in ASD During Early Childhood2.3 Neurobiological Mechanisms Mediating Brain Growth During Early Childhood (2 Years); 2.3.1 Cellular Mechanisms Underlying Typical Brain Maturation During Gestation and Early Childhood; 2.3.2 Cellular Mechanisms Underlying Atypical Early Brain Maturation in ASD; 2.4 Brain Development Across Late Childhood and Adolescence in ASD; 2.5 The Core Neural Systems Underlying ASD; 2.6 Microstructural Findings in the ASD Brain; 2.6.1 Cortical Neuropathology of ASD; 2.6.2 Limbic Neuropathology in ASD; 2.6.3 Cerebellar Neuropathology in ASD
2.7 ConclusionsReferences; Chapter 3: Modelling Autistic Neurons with Induced Pluripotent Stem Cells; 3.1 Introduction; 3.2 The Need for Human Cellular Models; 3.3 Neural Differentiation of iPSCs; 3.4 Modelling ASD in a Dish Using iPSCs; 3.4.1 Fragile X Syndrome; 3.4.2 Rett Syndrome and MECP2 Duplication Syndrome; 3.4.3 Timothy Syndrome; 3.4.4 Phelan-McDermid Syndrome and SHANK3-Associated ASD; 3.4.5 Non-syndromic ASD; 3.5 Limitations of iPSCs; 3.6 Conclusions; References; Chapter 4: Modelling Autistic Features in Mice Using Quantitative Genetic Approaches; 4.1 Introduction
4.1.1 Clinical Definition of ASD4.1.2 Prevalence; 4.1.3 Treatment; 4.1.4 Risk Factors; 4.1.5 Genetics; 4.2 Animal Models Based on Environmental and Genetic Findings; 4.2.1 Lesion Studies; 4.2.2 Foetal Valproate Syndrome; 4.2.3 Genetic Disorders; 4.3 Strengths and Limitations of Animal Models; 4.3.1 Construct Validity; 4.3.2 Predictive Validity; 4.3.3 Face Validity; 4.4 Evolutionary Perspective of Inherited Behaviours; 4.4.1 Communication and Social Behaviour; 4.4.2 Stereotyped and Restricted Behaviours; 4.4.3 Behavioural Development
4.4.4 Genetic Background and Genotype-Phenotype Relationships4.5 Forward Genetic Approaches in Mice; 4.6 Continuous Variation in ASD-Related Behavioural Traits; 4.6.1 Modelling Genetic Diversity; 4.7 Conclusions; 4.7.1 Behavioural Responses and Evolutionary Conserved Processes; 4.7.2 Quantitative Biological Parameters; 4.7.3 Behavioural Trajectories and Therapeutic Intervention; References; Chapter 5: Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder; 5.1 Introduction; 5.2 Social Behaviours; 5.3 Stereotyped Behaviours
2.2 Early Brain Overgrowth in ASD During Early Childhood2.3 Neurobiological Mechanisms Mediating Brain Growth During Early Childhood (2 Years); 2.3.1 Cellular Mechanisms Underlying Typical Brain Maturation During Gestation and Early Childhood; 2.3.2 Cellular Mechanisms Underlying Atypical Early Brain Maturation in ASD; 2.4 Brain Development Across Late Childhood and Adolescence in ASD; 2.5 The Core Neural Systems Underlying ASD; 2.6 Microstructural Findings in the ASD Brain; 2.6.1 Cortical Neuropathology of ASD; 2.6.2 Limbic Neuropathology in ASD; 2.6.3 Cerebellar Neuropathology in ASD
2.7 ConclusionsReferences; Chapter 3: Modelling Autistic Neurons with Induced Pluripotent Stem Cells; 3.1 Introduction; 3.2 The Need for Human Cellular Models; 3.3 Neural Differentiation of iPSCs; 3.4 Modelling ASD in a Dish Using iPSCs; 3.4.1 Fragile X Syndrome; 3.4.2 Rett Syndrome and MECP2 Duplication Syndrome; 3.4.3 Timothy Syndrome; 3.4.4 Phelan-McDermid Syndrome and SHANK3-Associated ASD; 3.4.5 Non-syndromic ASD; 3.5 Limitations of iPSCs; 3.6 Conclusions; References; Chapter 4: Modelling Autistic Features in Mice Using Quantitative Genetic Approaches; 4.1 Introduction
4.1.1 Clinical Definition of ASD4.1.2 Prevalence; 4.1.3 Treatment; 4.1.4 Risk Factors; 4.1.5 Genetics; 4.2 Animal Models Based on Environmental and Genetic Findings; 4.2.1 Lesion Studies; 4.2.2 Foetal Valproate Syndrome; 4.2.3 Genetic Disorders; 4.3 Strengths and Limitations of Animal Models; 4.3.1 Construct Validity; 4.3.2 Predictive Validity; 4.3.3 Face Validity; 4.4 Evolutionary Perspective of Inherited Behaviours; 4.4.1 Communication and Social Behaviour; 4.4.2 Stereotyped and Restricted Behaviours; 4.4.3 Behavioural Development
4.4.4 Genetic Background and Genotype-Phenotype Relationships4.5 Forward Genetic Approaches in Mice; 4.6 Continuous Variation in ASD-Related Behavioural Traits; 4.6.1 Modelling Genetic Diversity; 4.7 Conclusions; 4.7.1 Behavioural Responses and Evolutionary Conserved Processes; 4.7.2 Quantitative Biological Parameters; 4.7.3 Behavioural Trajectories and Therapeutic Intervention; References; Chapter 5: Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder; 5.1 Introduction; 5.2 Social Behaviours; 5.3 Stereotyped Behaviours