Download or read book Identification and Characterization of Genes Underlying for Intellectual Disability and Autism Spectrum Disorder written by Rafiullah Rafiullah and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.
Download or read book The Identification of the Genetic Components of Autism Spectrum Disorders 2017 written by Merlin G. Butler and published by MDPI. This book was released on 2018-06-27 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a printed edition of the Special Issue "The Identification of the Genetic Components of Autism Spectrum Disorders 2017" that was published in IJMS
Download or read book Early Start Denver Model for Young Children with Autism written by Sally J. Rogers and published by Guilford Publications. This book was released on 2020-05-14 with total page 323 pages. Available in PDF, EPUB and Kindle. Book excerpt: From leading authorities, this state-of-the-art manual presents the Early Start Denver Model (ESDM), the first comprehensive, empirically tested intervention specifically designed for toddlers and preschoolers with autism spectrum disorder. Supported by the principles of developmental psychology and applied behavior analysis, ESDM’s intensive teaching interventions are delivered within play-based, relationship-focused routines. The manual provides structured, hands-on strategies for working with very young children in individual and group settings to promote development in such key domains as imitation; communication; social, cognitive, and motor skills; adaptive behavior; and play. Implementing individualized treatment plans for each child requires the use of an assessment tool, the Early Start Denver Model Curriculum Checklist for Young Children with Autism. A nonreproducible checklist is included in the manual for reference, along with instructions for use; 8½" x 11" checklists are sold separately in sets of 15 ready-to-use booklets. See also the authors' related parent guide, An Early Start for Your Child with Autism.
Download or read book Identification and Characterization of Gene Defects Underlying Autosomal Recessive Intellectual Disability in Two Iranian Families written by Lucia Püttmann and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020 written by Merlin G Butler and published by Mdpi AG. This book was released on 2022-04-28 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Identification of the Genetic Components of Autism Spectrum Disorders 2020 will be a useful resource for laboratory and clinical scientists, translational-based researchers, primary healthcare providers and physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, teachers, special educators, and caregivers involved with individuals who have autism spectrum disorders (ASD), with the goal to translate information directly to the clinical, education and home settings. Other professionals, students at all levels, and families who are interested in this important neurodevelopmental disorder will find this textbook of value by obtaining a better awareness of the causes, testing, and understanding of genetic components leading to autism, and research that may open avenues for treatment with new approaches. This textbook includes nine chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to genetics research and clinical care, description, and treatment by generating reviews for ASD and related disorders. These chapters include information on discoveries, risk factors, causation, diagnosis, treatment, and phenotyping with characterization of genomic or genetic factors and the environment, as genetics play an important role in up to 90% of individuals with autism via over 800 currently recognized genes.
Download or read book Autism Spectrum Disorders written by Andreas M. Grabrucker and published by . This book was released on 2021 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.
Download or read book Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019 written by Merlin G Butler and published by Mdpi AG. This book was released on 2022-04-26 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Identification of the Genetic Components of Autism Spectrum Disorders 2019 will serve as a resource for laboratory and clinical scientists as well as translational-based researchers, primary healthcare providers or physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, and other healthcare providers, teachers, caregivers and students involved in autism spectrum disorders (ASD) with the goal to translate information directly to the clinic, education and home setting. Other professionals, students and families might find this textbook of value based on better awareness, causes and understanding of genetic components leading to autism and open avenues for treatment. Genetics play a role with up to 90% of autism, with over 800 currently recognized genes contributing to causes, clinical presentation, treatment, and counseling of family members. This textbook includes 13 chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to research and clinical care, description, treatment and generating relevant reviews for ASD and related disorders impacting gene expression, profiling, and pathways. Identification of potential risk factors will be discussed, including obesity, microbiota, malignancy, and the immune system, as well as their direct or indirect contribution to ASD treatment and causation.
Download or read book Autism Spectrum Disorders written by Stephen Deutsch and published by BoD – Books on Demand. This book was released on 2011-08-01 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.
Download or read book Copy Number Variations in Autism Spectrum Disorders written by Marina Konyukh and published by . This book was released on 2010 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Informing Genetic Models of Autism Via Transcriptional Network Analysis in Brain and Blood written by Rui Luo and published by . This book was released on 2014 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism Spectrum Disorders (ASDs) are a group of heritable neruodevlopmental disorders. Both common and rare genetic variants are known to play a role in ASDs. However the functional impact of genetic variants remains largely unexplored. In this study, we conducted transcriptome profiling analysis to uncover the expression alterations that are associated with autism. The transcriptome profiling also aids us exploring the regulatory patterns of genetic variants, and better understanding the genetic models of autism. Since brain tissue is not accessible on a large scale, we profiled mRNAs of lymphoblast cell lines (LCLs) from three independent cohorts to determine whether we could detect a reproducible blood gene expression pattern associated with ASD. RNA from a total of 978 patients, and 651 controls, including 607 unaffected siblings analyzed for differential expression. Although few genes were consistently differentially expressed between ASD and controls, we did find five (CMKOR1, DKFZP564O0823, PITPNC1, PRKCB1 and VIM) that were differentially expressed in at least two cohorts LCLs and previously published brain samples. Similarly, using LCL gene expression to classify subjects by disease status performed only slightly above chance. Using weighted gene co-expression network analysis (WGCNA), we were able to identify a module correlated with ASD in both AGRE and NIMH cohorts that overlapped with genes previously found to be mis-expressed in post mortem brain from ASD cases. eQTL analysis identified SNPs that were associated with LCL gene expression, including several in AHI1, a Joubert Syndrome gene dysregulated in ASD brain and lymphoblasts. Four of the 23 SNPs that were significantly correlated with the expression level of AHI1 reside in the same haplotype block previously associated with ASD, suggesting that risk for ASD is mediated via AHI1 transcript levels. Overall, we found a weak, but consistent signal in LCLs further suggesting that peripheral lymphoblast gene expression may be useful for studying ASD. Rare variants including Copy Number Variants (CNVs) and Single Nucleotide Variants (SNVs) are found to play an important role to the etiology of ASD together with common variants. We next interrogated gene expression in lymphoblasts from 244 families with discordant siblings in the Simons Simplex Collection in order to identify potentially pathogenic variation. Our results reveal that the overall frequency of significantly mis-expressed genes (which we refer to here as outliers) identified in probands and unaffected siblings do not differ. However, in probands, but not their unaffected siblings, the group of outlier genes is significantly enriched in neural-related pathways including neuropeptide signaling, synaptogenesis and cell adhesion. We demonstrate that outlier genes cluster within the most pathogenic CNVs (rare de novo CNVs) and can be used to prioritize rare CNVs of potentially unknown significance. Several non-recurrent CNVs with significant gene expression alterations are identified, including deletions on chromosome 3q27, 3p13 and 3p26, and duplications at 2p15, suggesting these as potential novel ASDs loci. In addition, we identify distinct pathways disrupted in 16p11.2 microdeletions, microduplications and 7q11.23 duplications, and show that specific genes within the 16p CNV interval correlate with differences in head circumference, an ASDs relevant phenotype. This study provides evidence that pathogenic structural variants have functional impact on transcriptome alterations in ASDs at a genome-wide level, and demonstrates the utility of this approach for prioritization of genes for subsequent functional analysis. Genetic studies have identified dozens of ASDs susceptibility genes, yet the interaction between ASD risk genes are pooly understood. In the aim of identify the molecular mechanisms and potential convergening pathways of ASD risk genes, the last chapter of my research utilizes transcriptome profiling to answer two questions: 1) do these genetic loci converge on specific laminar expression patterns, and 2) where does the phenotypic specificity of ASDs arise, given its genetic overlap with intellectual disability (ID)? To answer these, we mapped ASDs and ID risk genes to non-human primate and human brain transcriptome. We found ASDs genes are enriched in superficial cortical layers and glutamatergic projection neurons at the circuit level. Furthermore, we show that the patterns of ASDs and ID risk genes are distinct, providing a novel biological framework for investigating the pathophysiology of ASDs. In this chapter, we demonstrated the importance of understanding ASD gene interaction with systems biology method.
Download or read book Intellectual Disability written by and published by American Association. This book was released on 2010 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Manual contains the most current and authoritative information and knowledge on intellectual disability, including best practice guidelines on diagnosing and classifying intellectual disability and developing a system of supports for people living with an intellectual disability. Written by a committee of 18 experts, "Intellectual Disability: Definition, Classification, and Systems of Supports" (11th edition) is based on seven years of work on: (1) a synthesis of current information and best practices regarding intellectual disability; (2) numerous reviews and critiques of the 10th edition of the American Association on Intellectual and Developmental Disabilities (aaidd) definition manual; and (3) feedback from the field regarding a series of articles published by the Committee. This is the first official aaidd definition manual with the terminology "Intellectual Disability" (formerly mental retardation).
Download or read book Autism Spectrum Disorders written by David Amaral and published by Oxford University Press. This book was released on 2011-05-01 with total page 1445 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is an emerging area of basic and clinical research, and has only recently been recognized as a major topic in biomedical research. Approximately 1 in 150 children are diagnosed as autistic, so it is also an intense growth area in behavioral and educational treatments. Financial resources have begun to be raised for more comprehensive research and an increasing number of scientists are becoming involved in autism research. In many respects, autism has become a model for conducting translational research on a psychiatric disorder. This text provides a comprehensive summary of all current knowledge related to the behavioral, experiential, and biomedical features of the autism spectrum disorders including major behavioral and cognitive syndromology, common co-morbid conditions, neuropathology, neuroimmunology, and other neurological correlates such as seizures, allergy and immunology, gastroenterology, infectious disease, and epidemiology. Edited by three leading researchers, this volume contains over 80 chapters and nine shorter commentaries by thought leaders in the field, making the book a virtual "who's who" of autism research. This carefully developed book is a comprehensive and authoritative reference for what we know in this area as well as a guidepost for the next several years in all areas of autism research.
Download or read book Molecular Neuropathology written by Gareth W. Roberts and published by Cambridge University Press. This book was released on 1995-06-08 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also be examined at the protein level by immunocytochemistry and autoradiography. Improved understanding of basic biology has resulted in new approaches to animal models using transgenic techniques and new therapeutic approaches. The volume is structured to illustrate all these approaches and demonstrate the practice and promise of molecular neuropathology.
Download or read book Neurological Psychiatric and Developmental Disorders written by Institute of Medicine and published by National Academies Press. This book was released on 2001-01-01 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain disordersâ€"neurological, psychiatric, and developmentalâ€"now affect at least 250 million people in the developing world, and this number is expected to rise as life expectancy increases. Yet public and private health systems in developing countries have paid relatively little attention to brain disorders. The negative attitudes, prejudice, and stigma that often surround many of these disorders have contributed to this neglect. Lacking proper diagnosis and treatment, millions of individual lives are lost to disability and death. Such conditions exact both personal and economic costs on families, communities, and nations. The report describes the causes and risk factors associated with brain disorders. It focuses on six representative brain disorders that are prevalent in developing countries: developmental disabilities, epilepsy, schizophrenia, bipolar disorder, depression, and stroke. The report makes detailed recommendations of ways to reduce the toll exacted by these six disorders. In broader strokes, the report also proposes six major strategies toward reducing the overall burden of brain disorders in the developing world.
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Download or read book Autism and Talent written by Francesca Happé and published by OUP Oxford. This book was released on 2010-03-18 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Originating from a theme issue first published in Philosophical transactions of the Royal Society. B, Biological sciences."
