Format:
viii, 211 Seiten
,
Diagramme
ISBN:
9783319524962
Series Statement:
Advances in anatomy, embryology and cell biology 224
Content:
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 Childhood -- 2.3 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 Conclusions -- References -- 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 ASD
Content:
4.1.2 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 Relationships -- 4.5 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 -- 5.4 Meta-Analysis of ASD Mouse Models -- 5.4.1 Cluster I -- 5.4.2 Cluster II -- 5.5 Relating Behavioural Phenotypes with Structural and Functional Characteristics -- 5.6 Mouse Models Carrying Mutations in the Shank Genes -- 5.7 Refining the Analysis to Describe Behavioural Impairments -- 5.8 Conclusions -- References -- Chapter 6: Cerebellar and Striatal Pathologies in Mouse Models of Autism Spectrum Disorder -- 6.1 Introduction -- 6.2 Human Cerebellum in ASD -- 6.3 Cerebellum in ASD Mouse Models -- 6.3.1 Mouse Models for Syndromic ASD -- 6.3.2 Mouse Models for Non-syndromic ASD -- 6.3.3 Converging Cerebellar Phenotypes Among Several Mouse Models -- 6.4 Human Striatum in ASD -- 6.5 Striatum in ASD Mouse Models -- 6.6 Conclusions
Content:
References -- Chapter 7: Neurotrophic Factors in Mouse Models of Autism Spectrum Disorder: Focus on BDNF and IGF-1 -- 7.1 Introduction -- 7.2 Neurotrophic Factors in Individuals with ASD -- 7.3 BDNF in Mouse Models of ASD -- 7.3.1 BDNF in Mouse Models of Fragile X Syndrome -- 7.3.2 BDNF in Mouse Models of Rett Syndrome -- 7.3.3 BDNF in Other Mouse Models of ASD -- 7.4 IGF-1 in Mouse Models of ASD -- 7.4.1 IGF-1 in Mouse Models of Rett Syndrome -- 7.4.2 IGF-1 in Other Mouse Models of ASD -- 7.5 Conclusions -- References -- Chapter 8: The Role of the Oxytocin/Arginine Vasopressin System in Animal Models of Autism Spectrum Disorder -- 8.1 Introduction -- 8.2 OXT/AVP Systems and ASD -- 8.3 Oxt and Avp System-Related Animal Models of ASD -- 8.3.1 Genotype-Based Models: Oxt System -- 8.3.2 Genotype-Based Models: Avp System -- 8.3.3 The Oxt/Avp System in Monogenic Mouse Models of ASD -- 8.3.4 Phenotype-Based Models -- 8.4 Therapeutic Strategies for Targeting the OXT/AVP System -- 8.4.1 Acute Administration -- 8.4.2 Chronic Administration -- 8.4.3 Stimuli Enhancing Synthesis or Release of Oxt and Avp in Animals -- 8.5 Translational Medicine of OXT and AVP -- 8.5.1 Effects of Single-Dose Administration of OXT on Social Cognition in Humans -- 8.5.2 Effects of Acute OXT Administration in Adult Patients with ASD -- 8.5.3 Multiple-Dose Studies of Intranasal OXT in Patients with ASD -- 8.5.4 Endogenous Release of OXT/AVP in Humans -- 8.6 Conclusions -- References -- Chapter 9: Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder -- 9.1 Introduction -- 9.1.1 Enteric and Immune System Abnormalities in ASD -- 9.1.2 Abnormal Amino Acid Metabolism in ASD -- 9.1.3 Trace Metals in ASD -- 9.2 Overview of the Enteric Nervous System in ASD -- 9.3 Animal Models of Enteric Dysfunction in ASD
Content:
9.4 Overview of Maternal Infection and Inflammatory Processes in ASD -- 9.5 Animal Models of Maternal Infection and Inflammation -- 9.6 Overview of Amino Acid Metabolism in ASD -- 9.7 Animal Models for Amino Acid Metabolism in ASD -- 9.8 Overview of Zinc Biology in the Brain and GI Tract -- 9.8.1 Prenatal Zinc Deficiency and Synaptic Function -- 9.8.2 Prenatal Zinc Deficiency, Gastrointestinal Function and Inflammation -- 9.9 Animal Models for Prenatal Zinc Deficiency in ASD -- 9.10 Role of the Microbiome -- 9.11 Role of Other ASD Risk Factors -- 9.12 Conclusions -- References -- Chapter 10: Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder -- 10.1 Introduction -- 10.2 Genetic Reversibility -- 10.2.1 Fmr1 -- 10.2.2 Mecp2 -- 10.2.3 Ube3a -- 10.2.4 Nrxn-Nlgn-Shank -- 10.2.5 Syngap1 -- 10.3 Pharmacological Reversibility -- 10.3.1 Negative and Positive Allosteric Modulators of Group I mGluRs -- 10.3.2 Agonists and Antagonists of the NMDAR -- 10.3.3 Inhibitors of mTOR -- 10.3.4 Insulin-Like Growth Factor I -- 10.3.5 Oxytocin -- 10.4 Conclusions -- References
Additional Edition:
9783319524986
Additional Edition:
Erscheint auch als Online-Ausgabe Translational anatomy and cell biology of autism spectrum disorder Cham : Springer, 2017 9783319524986
Language:
English
DOI:
10.1007/978-3-319-52498-6
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