| Description |
1 online resource |
| Series |
Advances in anatomy, embryology and cell biology ; 224 |
|
Advances in anatomy, embryology, and cell biology ; v. 224.
|
| Contents |
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 |
| Summary |
Autism spectrum disorder (ASD) affects approximately 1 % of the human population and is characterized by a core symptomatology including deficits in social interaction and repetitive patterns of behaviour plus various co-morbidities. Although a lot of progress has been made to uncover underlying causes and mechanisms throughout the last decade, we are still at the very beginning to understand this enormously complex neurodevelopmental condition. This special volume is focused on translational anatomy and cell biology of ASD. International experts from the field including several members of the EU-AIMS initiative launched by the European Union to develop novel treatments for ASD have contributed chapters on several topics covering all crucial aspects of translational ASD research with a special emphasis on ASD model systems including stem cells and animals. Primary objective is to clarify how anatomical and cell biological phenotypes of ASD will help to translate basic mechanisms to clinical practice and to efficiently treat affected individuals in the near future |
| Bibliography |
Includes bibliographical references |
| Notes |
Print version record |
| Subject |
Autism spectrum disorders -- Molecular aspects
|
|
Autism Spectrum Disorder
|
|
Psychiatry.
|
|
Cellular biology (cytology)
|
|
Neurosciences.
|
|
HEALTH & FITNESS -- Diseases -- General.
|
|
MEDICAL -- Clinical Medicine.
|
|
MEDICAL -- Diseases.
|
|
MEDICAL -- Evidence-Based Medicine.
|
|
MEDICAL -- Internal Medicine.
|
|
Cytology
|
|
Medicine
|
|
Neurosciences
|
|
Psychiatry
|
| Form |
Electronic book
|
| Author |
Schmeisser, Michael J
|
|
Boeckers, Tobias M
|
| ISBN |
9783319524986 |
|
3319524984 |
|
