This Research Topic covers the pathogenetic processes in Autism Spectrum Disorder (ASD) that underpin the translation of genetic vulnerability to clinically significant symptoms. Available research data in ASD suggests that it is a neural connectivity disorder and that the social communication and related neurobehavioural symptoms result from reduced synchronization between key "social brain" regions. These interconnected neural systems can be understood through the relationship between functionally relevant anatomic areas and neurochemical pathways, the programming of which are genetically modulated during neurodevelopment and mediated through a range of epigenetic and environmental modulators. Elucidating the underlying molecular mechanisms can provide an invaluable window for understanding the neural wiring that regulates higher brain functions and consequent clinical phenotypes. In keeping with the multi modal and diverse origins of ASD, this Research Topic explores the genetic underpinnings and environmental modulation in the aetiology; neural substrates, biomarkers and endophenotypes that underlie clinical characteristics; as well as neurochemical pathways and pathophysiological mechanisms that pave the way for therapeutic interventions. Furthermore, since genetically mediated deficits and consequent functional impairments involve activity-dependent synapse development that depends on postnatal learning and experience, the trajectory towards the final clinical expression could be modulated by early interventions that exploit the neuronal maturation and brain plasticity. However, identifying these diverse pathogenetic processes and tailoring interventions would require subtyping ASD into homogeneous subgroups. In this regard, this topic covers the current state of evidence in the literature through topic reviews as well as ongoing original work that provides tangible hypotheses and directions for future research.

The Neuropsychology of Autism provides an up-to-date summary on the neuropsychology of autism spectrum disorders (ASD), written by leaders in the field. It summarizes current knowledge about neurochemistry, neuroanatomy, genetics, and clinical presentations and provides helpful discussions on key functions such as language, memory, attention, executive functions, social cognition, motor and sensory functioning.

Genome-wide association studies (GWAS) for complex disorders with large case-control populations have been performed on hundreds of traits in more than 1200 published studies (http://www.genome.gov/gwastudies/) but the variants detected by GWAS account for little of the heritability of these traits, leading to an increasing interest in using family based designs. While GWAS studies are designed to find common variants with low to moderate attributable risks, family based studies are expected to find rare variants with high attributable risk. Because family-based designs can better control both genetic and environmental background, this study design is robust to heterogeneity and population stratification. Moreover, in family-based analysis, the background genetic variation can be modeled to control the residual variance which could increase the power to identify disease associated rare variants. Analysis of families can also help us gain knowledge about disease transmission and inheritance patterns. Although a family-based design has the advantage of being robust to false positives, novel and powerful methods to analyze families in genetic epidemiology continue to be needed, especially for the interaction between genetic and environmental factors associated with disease. Moreover, with the rapid development of sequencing technology, advances in approaches to the design and analysis of sequencing data in families are also greatly needed. The 11 articles in this book all introduce new methodology and, using family data, substantial new findings are presented in the areas of infectious diseases, diabetes, eye traits, autism spectrum disorder and prostate cancer.

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.

Clinical and Translational Science: Principles of Human Research, Second Edition, is the most authoritative and timely resource for the broad range of investigators taking on the challenge of clinical and translational science, a field that is devoted to investigating human health and disease, interventions, and outcomes for the purposes of developing new treatment approaches, devices, and modalities to improve health. This updated second edition has been prepared with an international perspective, beginning with fundamental principles, experimental design, epidemiology, traditional and new biostatistical approaches, and investigative tools. It presents complete instruction and guidance from fundamental principles, approaches, and infrastructure, especially for human genetics and genomics, human pharmacology, research in special populations, the societal context of human research, and the future of human research. The book moves on to discuss legal, social, and ethical issues, and concludes with a discussion of future prospects, providing readers with a comprehensive view of this rapidly developing area of science. Introduces novel physiological and therapeutic strategies for engaging the fastest growing scientific field in both the private sector and academic medicine Brings insights from international leaders into the discipline of clinical and translational science Addresses drug discovery, drug repurposing and development, innovative and improved approaches to go/no-go decisions in drug development, and traditional and innovative clinical trial designs

This volume explores the use of mass spectrometry for biomedical applications. Chapters focus on specific therapeutic areas such as oncology, infectious disease and psychiatry. Additional chapters focus on methodology as well as new technologies and instrumentation. This volume provides readers with a comprehensive and informative manual that will allow them to appreciate mass spectrometry and proteomic research but also to initiate and improve their own work. Thus the book acts as a technical guide but also a conceptual guide to the newest information in this exciting field. Mass spectrometry is the central tool used in proteomic research today and is rapidly becoming indispensable to the biomedical scientist. With the completion of the human genome project and the genomic revolution, the proteomic revolution has followed closely behind. Understanding the human proteome has become critical to basic and clinical biomedical research and holds the promise of providing comprehensive understanding of human physiological processes. In addition, proteomics and mass spectrometry are bringing unprecedented biomarker discovery and are helping to personalize medicine.

Starting at the Beginning: Laying the Foundation for Lifelong Mental Health coincides with the 24th International Association for Child and Adolescent Psychiatry and Allied Professions (IACAPAPA) Congress in Singapore, June 2020. This book examines the determinates of individual differences in children and young people, along with the origins of maladjustment and psychiatric disorders. It addresses the ways in which interventions and mental health services can be developed and shaped to address individual differences among children. Additional topics include environmental hazards and mental health and cultural psychiatry as a basic science for addressing mental health disparities. Chapters dive deeper into anxiety disorders in infants, gaming disorder, the pitfalls of treatment in OCD, and ADHD developmental neuropsychiatry. Another targeted section focuses on policies for child and adolescent mental health, including a review of mental health services in China, Oceania and East Asia. - Emphasizes social and environmental influences - Focuses on early developmental and infancy processes - Addresses the training of child and adolescent psychiatrists across Europe - Covers a range of illustrative psychiatric disorders and problems - Works toward the goal of producing a mental health workforce with internationally recognized competencies

Genetic Analysis of Complex Diseases An up-to-date and complete treatment of the strategies, designs and analysis methods for studying complex genetic disease in human beings In the newly revised Third Edition of Genetic Analysis of Complex Diseases, a team of distinguished geneticists delivers a comprehensive introduction to the most relevant strategies, designs and methods of analysis for the study of complex genetic disease in humans. The book focuses on concepts and designs, thereby offering readers a broad understanding of common problems and solutions in the field based on successful applications in the design and execution of genetic studies. This edited volume contains contributions from some of the leading voices in the area and presents new chapters on high-throughput genomic sequencing, copy-number variant analysis and epigenetic studies. Providing clear and easily referenced overviews of the considerations involved in genetic analysis of complex human genetic disease, including sampling, design, data collection, linkage and association studies and social, legal and ethical issues. Genetic Analysis of Complex Diseases also provides: A thorough introduction to study design for the identification of genes in complex traits Comprehensive explorations of basic concepts in genetics, disease phenotype definition and the determination of the genetic components of disease Practical discussions of modern bioinformatics tools for analysis of genetic data Reflecting on responsible conduct of research in genetic studies, as well as linkage analysis and data management New expanded chapter on complex genetic interactions This latest edition of Genetic Analysis of Complex Diseases is a must-read resource for molecular biologists, human geneticists, genetic epidemiologists and pharmaceutical researchers. It is also invaluable for graduate students taking courses in statistical genetics or genetic epidemiology.

Psychiatrists and other mental health professionals are increasingly confronted with questions about the genetics of psychiatric illness, and the clinical applications of new genetic findings. Psychiatric Genetics: A Primer for Clinical and Basic Scientists addresses these questions through a straightforward introduction to the essentials of psychiatric genetics, complementing more comprehensive textbooks that may seem overwhelming for those new to the field. Written and edited by leaders in the field and the International Society of Psychiatric Genetics (ISPG), the book covers basic epidemiology, recruitment for human studies, phenotyping strategies, formal genetic and molecular genetic studies, statistical genetics, bioinformatics and genomics, pharmacogenetics, the most relevant animal models, and biobanking. Each chapter begins with a list of "take home" points that summarizes content, followed by a brief overview of current knowledge and suggestions for further reading. This Primer is ideal for medical students, psychiatric residents, psychiatrists, and basic neuroscience researchers who are interested in learning about the key concepts and recent advances in the exciting field of psychiatric genetics.

Psychiatric Genetics: A Primer for Clinical and Basic Scientists offers a straightforward introduction to the essentials of psychiatric genetics, covering basic epidemiology, recruitment for human studies, phenotyping strategies, formal genetic and molecular genetic studies, statistical genetics, bioinformatics and genomics, pharmacogenetics, the most relevant animal models, and biobanking. Each chapter begins with a list of "take home" points that summarizes content, followed by a brief overview of current knowledge and suggestions for further reading.