Download or read book Organism Models of Autism Spectrum Disorders written by Pierre L. Roubertoux and published by . This book was released on 2015-02-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Translational Anatomy and Cell Biology of Autism Spectrum Disorder written by Michael J. Schmeisser and published by Springer. This book was released on 2017-05-25 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book The Autisms written by Craig M. Powell and published by Oxford University Press, USA. This book was released on 2013 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The science of autism has seen tremendous breakthroughs in the past few decades. A multitude of relatively rare mutations have been identified to explain around 15 % of autism cases with many of these genetic causes systematically examined in animal models. This marriage of human genetics and basic neurobiology has led to major advances in our understanding of how these genetic mutations alter brain function and help to better understand the human disease. These scientific approaches are leading to the identification of potential therapeutic targets for autism that can be tested in the very same genetic models and hopefully translated into novel, rational therapies. The Autisms: Molecules to Model Systems provides a roadmap to many of these genetic causes of autism and clarifies what is known at the molecular, cellular, and circuit levels. Focusing on tractable genetic findings in human autism and painstakingly dissecting the underlying neurobiology, the book explains, is the key to understanding the pathophysiology of autism and ultimately to identifying novel treatments.

Download or read book Autism Spectrum Disorders written by David Amaral and published by OUP USA. This book was released on 2011-06-17 with total page 1445 pages. Available in PDF, EPUB and Kindle. Book excerpt: Information about the symptoms, treatment, and research on Autism spectrum disorders including Autism and Asperger syndrome.

Download or read book Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders written by and published by Academic Press. This book was released on 2018-11-14 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders, Volume 241 provides the most recent information on the animal model systems that are available to study different forms of autism spectrum disorders. In addition to genetically engineered animals that uniquely model genetic forms of ASD, this volume also provides detailed chapters on a variety of specific topics, including An overview of genetic models of ASDs, Phenotypic modeling of ASD symptoms, Molecular mechanisms of NF1 model of ASD symptoms, Ube3a gene dosage disorders: molecular and circuit mechanisms of ASD, Circuit dysfunctions in ASD models, ERK signaling in genetic models of ASD, and more. Presents a timely, comprehensive assessment of the field Includes helpful summaries on current knowledge, gaps and future directions in autism research

Download or read book Essential Pathways and Circuits of Autism Pathogenesis written by and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients.

Download or read book Autism written by and published by Academic Press. This book was released on 2020-07-23 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism, Volume 173 in the Progress in Molecular Biology and Translational Science series, provides the most topical, informative and exciting monographs available on a wide variety of research topics. Chapters in this new release include updates on atypical brain development in autism spectrum disorder, predicting early diagnosis of autism spectrum disorder using neural and behavioral measures, the roles of the endocannabinoid system in autism spectrum disorder, the neurobiology of sensory processing in autism spectrum disorder, the effects of oxytocin administration on individuals with ASD, resting-state abnormalities of posterior cingulate in autism spectrum disorder, and more. Includes comprehensive coverage of molecular biology Presents ample use of tables, diagrams, schemata and color figures to enhance the reader's ability to rapidly grasp the information provided Contains contributions from renowned experts in the field

Download or read book Neural and Synaptic Defects in Autism Spectrum Disorders written by Hansen Wang and published by Frontiers Media SA. This book was released on 2015-07-07 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASDs) are a group of genetically and clinically heterogeneous neurodevelopmental disorders characterized by impaired reciprocal social interactions and communication, and restricted and repetitive patterns of behaviors and interests. Studies in genetics, neurobiology and systems biology are providing insights into the pathogenesis of ASDs. Investigation of neural and synaptic defects in ASDs not only sheds light on the molecular and cellular mechanisms that govern the function of the central nervous system, but may lead to the discovery of potential therapeutic targets for autism and other cognitive disorders. Our Research Topic which constitutes this e-book documents the recent development and ideas in the study of pathogenesis and treatment of ASDs, with an emphasis on syndromic disorders such as fragile X and Rett syndromes. In addition, model systems and methodological approaches with translational relevance to autism are covered herein. We hope that the Research Topic will enhance the global knowledge base in the autism research community and foster new research directions in autism related biology.

Download or read book Essential Pathways and Circuits of Autism Pathogenesis written by Gül Dölen and published by Frontiers Media SA. This book was released on 2016-08-15 with total page 183 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients.

Download or read book Biometals in Autism Spectrum Disorders written by Andreas Grabrucker and published by Academic Press. This book was released on 2020-07-08 with total page 224 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biometals in Autism Spectrum Disorders focuses on trace metals and autism. Compared to other references examining ASDs or metallomics, this book presents findings of abnormal metal homeostasis in ASD, providing an overview of current findings on trace metal biology, its role in ASD etiology, and how abnormal trace metal biology may be a common factor of several genetic and non-genetic causes of ASDs that were once considered unrelated. This comprehensive resource opens new vistas for the development of new therapies based on the targeted manipulation of trace metal homeostasis that will generate new awareness surrounding trace metal levels during pregnancy. Reviews the role of trace metals in brain development Summarizes research linking trace metals and autism Explores heterogenous phenotypes as a factor of genetic and non-genetic factors Includes animal and human stem research Contains many useful diagrams, tables and flow charts Proposes future therapies based on biometal homeostasis

Download or read book Essential Genes and Their Role in Autism Spectrum Disorder written by Xiao Ji and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential genes (EGs) play central roles in fundamental cellular processes and are required for the survival of an organism. EGs are enriched for human disease genes and are under strong purifying selection. This intolerance to deleterious mutations, commonly observed haploinsufficiency and the importance of EGs in pre- and postnatal development suggests a possible cumulative effect of deleterious variants in EGs on complex neurodevelopmental disorders. Autism spectrum disorder (ASD) is a heterogeneous, highly heritable neurodevelopmental syndrome characterized by impaired social interaction, communication and repetitive behavior. More and more genetic evidence points to a polygenic model of ASD and it is estimated that hundreds of genes contribute to ASD. The central question addressed in this dissertation is whether genes with a strong effect on survival and fitness (i.e. EGs) play a specific role in ASD risk. I compiled a comprehensive catalog of 3,915 mammalian EGs by combining human orthologs of lethal genes in knockout mice and genes responsible for cell-based essentiality. With an updated set of EGs, I characterized the genetic and functional properties of EGs and demonstrated the association between EGs and human diseases. Next I provided evidence for a stronger contribution of EGs to ASD risk, compared to non-essential genes (NEGs). By examining the exonic de novo and inherited variants from 1,781 ASD quartet families, I demonstrated a significantly higher burden of damaging mutations in EGs in ASD probands compared to their non-ASD siblings. Analysis of EGs in the developing brain identified clusters of co-expressed EGs implicated in ASD, among which I proposed a priority list of 29 EGs with potential ASD risk as targets for future functional and behavioral studies. Finally, I developed the essentiality burden score (EBS), which captures the burden of rare mutations in EGs as a novel polygenic predictor of individual ASD risk and a useful addition to the current tools for understanding the polygenic architecture of ASD. Overall, I show that large-scale studies of gene function in model organisms and human cell lines provide a powerful approach for prioritization of genes and pathogenic variants identified by sequencing studies of complex human disease.

Download or read book Textbook of Autism Spectrum Disorders Second Edition written by Eric Hollander, M.D. and published by American Psychiatric Pub. This book was released on 2022-03-15 with total page 744 pages. Available in PDF, EPUB and Kindle. Book excerpt: More than 40 years after the official recognition of infantile autism in DSM-III, advances continue to be made in our understanding of the possible causes, assessment and evaluation, and treatment of autism spectrum disorder (ASD). With contributions by dozens of experts in the field, this second edition of the Textbook of Autism Spectrum Disorders has been updated to reflect the latest research in ASD. Unrivaled in its thoroughness, this volume discusses issues of assessment and evaluation; examines the etiology of ASD and its recognized associations with other medical conditions; analyzes standard and experimental treatments; and delves into social policy issues pertinent to individuals with ASD and those who treat them. With summary points in each chapter and copious lists of recommended readings, this is an indispensable resource for psychiatrists, psychologists, neurologists, social workers, speech therapists, educators, and all others in the continuum of care.

Download or read book Altered Nocifensive Behavior in Animal Models of Autism Spectrum Disorder The Role of the Nicotinic Cholinergic System written by and published by . This book was released on 2016 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Animal Models of Behavior Genetics written by Jonathan C. Gewirtz and published by Springer. This book was released on 2016-08-10 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: This stimulating analysis reviews the broad potential of animal models to foster a deeper understanding of human pathology, strengthen connections between genetic and behavioral studies, and develop more effective treatments for mental disorders. Widely-studied and lesser-used species are examined in models that capture features along the continuum of normative and pathological behavior. The models highlight genetic causes of core features, or endophenotypes, of developmental, internalizing, and externalizing disorders, as well as dementia. Expert contributors address questions ranging from how suitable species are chosen for study to the costs and benefits of using inbred versus outbred strains, and the effects of housing environment on subject animals. Larger issues addressed include how to evaluate the applicability of animal behavioral models to the human condition and how these models can harness emerging molecular technologies to further our understanding of the genetic basis of mental illness. Included in the coverage: Mating and fighting in Drosophila. Attachment and social bonding. Impulsivity in rodents and humans. Animal models of cognitive decline. Animal models of social cognition. Future directions for animal models in behavioral genetics. A detailed map of where this evolving field is headed, Animal Models of Behavior Genetics shows geneticists, molecular biologists, and cognitive neuroscientists paths beyond established concepts toward a more knowledgeable and collaborative future.

Download or read book Comprehensive Guide to Autism written by Vinood B. Patel and published by Springer. This book was released on 2013-10-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is a complex multifaceted disorder affecting neurodevelopment during the early years of life and, for many, throughout the life span. Inherent features include difficulties or deficits in communication, social interaction, cognition, and interpersonal behavioral coordination, to name just a few. Autism profoundly impacts the affected individual, the family, and, in many cases, the localized communities. The increased prevalence of childhood autism has resulted in rapid developments in a wide range of disciplines in recent years. Nevertheless, despite intensive research, the cause(s) remain unresolved and no single treatment strategy is employed. To address these issues, Comprehensive Guide to Autism is an all-embracing reference that offers analyses and discussions of contemporary issues in the field of autism. The work brings together scientific material from leading experts in the field relating to a wide range of important current topics, such as the early identification and treatment of children with autism, pertinent social and behavioral studies, recent developments in genetics and immunology, the influence of diet, models of autism, and future treatment prospects. Comprehensive Guide to Autism contains essential readings for behavioral science researchers, psychologists, physicians, social workers, parents, and caregivers.

Download or read book Molecular Cellular and Model Organism Approaches for Understanding the Basis of Neurological Disease written by Robert J. Harvey and published by Frontiers Media SA. This book was released on 2017-07-05 with total page 185 pages. Available in PDF, EPUB and Kindle. Book excerpt: The advent of next-generation sequencing technologies has resulted in a remarkable increase our understanding of human and animal neurological disorders through the identification of disease causing or protective sequence variants. However, in many cases, robust disease models are required to understand how changes at the DNA, RNA or protein level affect neuronal and synaptic function, or key signalling pathways. In turn, these models may enable understanding of key disease processes and the identification of new targets for the medicines of the future. This e-book contains original research papers and reviews that highlight either the impact of next-generation sequencing in the understanding of neurological disorders, or utilise molecular, cellular, and whole-organism models to validate disease-causing or protective sequence variants.

Download or read book An Examination of Behaviors in Drosophila Melanogaster for Their Utility in an Rnai Screen of Autism Candidate Genes written by Ritu Saxena and published by . This book was released on 2014 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism awareness and research has become more prevalent and garnered much more attention over the last few decades due to increasing rates of incidence. With no known cure, scientists have been pressured to research the causes of autism and autism spectrum disorders with the hopes of discovering preventative measures. Recent research has indicated that autism is not caused by mutations in one gene, but many genes. The purpose of this project was to find a way to provide biological validation for genes identified by human genetic studies that may be related to autism spectrum disorders, using the model organism Drosophila melanogaster. This was attempted by selecting specific phenotypes, identified through literature review of Drosophila behavioral analysis, which could be indicative of autism related neurological changes. The well-established fly model of Fragile X syndrome, a known syndromic cause of autism, was selected as a positive control for these behavioral assays. In the future, if a scientist were to manipulate a gene candidate in a fruit fly and observe the same behavioral disturbances as the positive control, then that gene would be more attractive for further testing in higher organisms such as mice, where establishment of models is much more costly and time consuming. The behaviors tested in this project were social spacing, circadian rhythm, and negative geotaxis. UAS-Dicer II was used together with elav-GAL4 to increase the effectiveness of the RNA interference in neurons, decreasing the expression of the Fragile X mental retardation protein (FMR1). This, in effect, replicated Fragile X Syndrome. Similarly I chose to decrease Drosophila metabotropic glutamate receptor (DmGluRA) using RNAi and observe those behaviors, because mGluRA levels increase when FMR1 levels decrease. Decreasing mGluRA could potentially serve as a negative control. Circadian rhythm proved to be too sensitive to extraneous variables and was unable to produce a distinct phenotype, as well as with social spacing. The controls and experimental genotypes in both of these assays showed no difference in behavior, but seemed to be affected more by the p-element insertions and the presence of mini-white from the RNAi and Gal4 lines. I observed no gross morphological changes using immunohistochemistry and confocal imaging either. However, the negative geotaxis results showed that there is a significant difference in behavior when flies have decreased FMR1 expression. These flies were very inactive, with a 15% success rate compared to Canton-S (the control group), which had a success rate of 85%. This could indicate that negative geotactic ability is unaffected by the presence of p-elements and other variables that seemed to interfere with the other assays. Ways to improve upon this project in the future would be to backcross to potentially remove mini-white from the RNAi and Gal-4 lines, as well as homogenize the background of each line to be that of Canton S. If all variables are taken into account and the extraneous ones are eliminated, the implications of this project are invaluable.