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Identification Des Genes Impliques Dans Lautisme Et Les Deficiences Mentales
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Book Synopsis Identification des gènes impliqués dans l'autisme et les déficiences mentales by : Frédéric Laumonnier
Download or read book Identification des gènes impliqués dans l'autisme et les déficiences mentales written by Frédéric Laumonnier and published by . This book was released on 2004 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: L'objectif de ce travail était d'apporter des éléments de réponse sur les causes de l'autisme et des déficiences mentales (DM) grâce à l'étude de remaniements chromosomiques apparus de novo chez des sujets autistes ou atteints de DM liées au sexe. Ainsi, l'étude d'une translocation chez un garçon autiste et DM nous a permis de montrer la déficience du gène KCNMA1 codant un canal K+ synaptique, et de voir que l'action d'une molécule ouvreuse de ce canal augmentait in vitro son activité, permettant d'envisager une approche thérapeutique pour les patients mutés pour KCNMA1. L'étude d'une inversion du chromosome X chez une fillette avec DM a abouti à l'implication du gène SOX3, codant un facteur de transcription, dans les DMX avec déficit en hormone de croissance. Enfin, nous avons montré que l'autisme et les DMX pouvaient avoir une cause génétique commune grâce à la présence d'une mutation du gène NLGN4 chez une famille où les garçons atteints ont une DM accompagnée ou non d'autisme.
Book Synopsis Identification et études fonctionnelles de nouveaux gènes impliqués dans l'autisme et les déficiences mentales by : Hussein Daoud
Download or read book Identification et études fonctionnelles de nouveaux gènes impliqués dans l'autisme et les déficiences mentales written by Hussein Daoud and published by . This book was released on 2007 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: L’autisme et les déficiences mentales (DM) sont deux pathologies dont les causes sont encore mal connues. L’objectif de notre travail est d’apporter des éléments de réponse sur les causes de ces deux pathologies grâce à l’étude des remaniements chromosomiques apparus de novo chez des sujets autistes et/ou retardés par la stratégie de clonage positionnel. Ainsi, nous avons identifié un nouveau gène « GPD2 », rompu par une translocation réciproque équilibrée présente chez une fillette atteinte d’une déficience mentale. Cette rupture a pour conséquences une diminution du taux de transcrit du gène ainsi qu’une diminution de l’activité enzymatique de la protéine. Nous avons également étudié una autre translocation chez un patient atteint d’autisme. Deux gènes ont été identifiés et sont en cours d’analyse. Enfin, nous avons mis en évidence une nouvelle mutation de novo dans la région promotrice du gène NLGN4X chez un garçon atteint d’autisme et de déficience mentale profonde.
Book Synopsis Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie by : Guillaume Huguet
Download or read book Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie written by Guillaume Huguet and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Les troubles du spectre autistique (TSA) touchent approximativement 1% de la population générale. Ces troubles se caractérisent par un déficit de la communication sociale, ainsi que des comportements stéréotypés et des intérêts restreints. Plusieurs gènes impliqués dans le déterminisme des TSA ont été identifiés, comme par exemple les gènes NLGN3-4X, NRXN1-3 et SHANK1-3. Au cours des années précédentes, les TSA ont été considérés comme un ensemble complexe de troubles monogéniques. Cependant, les études récentes du génome complet suggèrent la présence de gènes modificateurs (« multiple hits model »). La dyslexie est caractérisée par un trouble dans l'apprentissage de la lecture et de l'écriture qui touche 5---15% de la population générale. Les facteurs génétiques impliqués restent pour l'instant inconnus car seuls des gènes ou loci candidats ont été identifiés. Mon projet de thèse avait pour objectif de poursuivre l'identification des facteurs génétiques impliqués dans les TSA et de découvrir un premier facteur génétique pour la dyslexie. Pour cela, deux types de populations ont été étudiés : d'une part des patients atteints de TSA (N>600) provenant de France, de Suède et des Iles Faroe, d'autre part des patients atteints de dyslexie (N>200) provenant de France, en particulier une famille de 11 personnes atteintes sur 3 générations. J'ai utilisé à la fois la technologie des puces à ADN Illumina (600 K et 5M) et le séquençage complet du génome humain pour effectuer des analyses de liaison et d'association. Pour les TSA, grâce aux analyses de CNVs, j'ai pu identifier des gènes candidats pour l'autisme et confirmer l'association de plusieurs gènes synaptiques avec l'autisme. En particulier, l'étude d'une population de 30 patients des îles Faroe a pu confirmer l'implication des gènes NLGN1 et NRXN1 dans l'autisme et identifier un nouveau gène candidat IQSEC3. En parallèle, j'ai exploréPRRT2 localisé en 16p11.2. PRRT2 code pour un membre du complexe SNARE synaptique qui permet la libération des vésicules synaptiques. Je n'ai pas pu mettre en évidence d'association avec les TSA, mais j'ai montré que ce gène important pour certaines maladies neurologiques était sous pression de sélection différente selon les populations. Pour la dyslexie, j'ai effectué une analyse de liaison (méthode des lod-scores) pour une grande famille de 11 individus atteints sur trois générations. Cette étude a permis d'identifier CNTNAP2 comme un gène de vulnérabilité à la dyslexie. Cette découverte est importante car ce même gène est aussi associé aux TSA. Par contre, aucune des 20 variations rares découvertes par le séquençage complet du génome n'est localisée dans les parties codantes du gène. Plusieurs variations localisées dans des régions régulatrices sont candidates. En conclusion, les résultats de ma thèse ont permis d'identifier des gènes candidats pour les TSA, de confirmer le rôle des gènes synaptiques dans ce trouble, de montrer pour la première fois grâce à une analyse de liaison le rôle de CNTNAP2 dans la dyslexie.
Book Synopsis A Comprehensive Book on Autism Spectrum Disorders by : Mohammad-Reza Mohammadi
Download or read book A Comprehensive Book on Autism Spectrum Disorders written by Mohammad-Reza Mohammadi and published by BoD – Books on Demand. This book was released on 2011-09-15 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aim of the book is to serve for clinical, practical, basic and scholarly practices. In twentyfive chapters it covers the most important topics related to Autism Spectrum Disorders in the efficient way and aims to be useful for health professionals in training or clinicians seeking an update. Different people with autism can have very different symptoms. Autism is considered to be a "spectrum" disorder, a group of disorders with similar features. Some people may experience merely mild disturbances, while the others have very serious symptoms. This book is aimed to be used as a textbook for child and adolescent psychiatry fellowship training and will serve as a reference for practicing psychologists, child and adolescent psychiatrists, general psychiatrists, pediatricians, child neurologists, nurses, social workers and family physicians. A free access to the full-text electronic version of the book via Intech reading platform at http://www.intechweb.org is a great bonus.
Book Synopsis Clinical Staging in Psychiatry by : Patrick D. McGorry
Download or read book Clinical Staging in Psychiatry written by Patrick D. McGorry and published by Cambridge University Press. This book was released on 2019-08-29 with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical staging is a solution to transform psychiatric diagnosis and improve mental health outcomes.
Book Synopsis Autism and Autistic-like Conditions in Mental Retardation by : Dirk W. Kraijer
Download or read book Autism and Autistic-like Conditions in Mental Retardation written by Dirk W. Kraijer and published by Psychology Press. This book was released on 1997-01-01 with total page 451 pages. Available in PDF, EPUB and Kindle. Book excerpt: For every 100 children and adults who display autism, some 80 are mentally retarded. This book argues that it is vital to consider autism and autistic-like conditions using the mental retardation field as a frame of reference and presents a scale designed to help with this.
Book Synopsis Infantile Autisme by : Catherine Barthélémy
Download or read book Infantile Autisme written by Catherine Barthélémy and published by . This book was released on 1999 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Movement Disorders in Childhood by : Harvey S. Singer
Download or read book Movement Disorders in Childhood written by Harvey S. Singer and published by Academic Press. This book was released on 2015-10-27 with total page 601 pages. Available in PDF, EPUB and Kindle. Book excerpt: Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. Provides the only current reference specifically focused on childhood movement disorders Investigates the underlying etiologies and mechanisms of these disorders Completely revised and updated with new materials and a more disease-oriented approach New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis New videos of instructive and unusual childhood movement disorders 2016 BMA Medical Book Awards Highly Commended in Neurology
Book Synopsis Evidence-Based Practices and Treatments for Children with Autism by : Brian Reichow
Download or read book Evidence-Based Practices and Treatments for Children with Autism written by Brian Reichow and published by Springer Science & Business Media. This book was released on 2010-11-25 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASDs) have been increasingly diagnosed in recent years and carries with it far reaching social and financial implications. With this in mind, educators, physicians, and parents are searching for the best practices and most effective treatments. But because the symptoms of ASDs span multiple domains (e.g., communication and language, social, behavioral), successfully meeting the needs of a child with autism can be quite challenging. Evidence-Based Practices and Treatments for Children with Autism offers an insightful and balanced perspective on topics ranging from the historical underpinnings of autism treatment to the use of psychopharmacology and the implementation of evidence-based practices (EBPs). An evaluation methodology is also offered to reduce the risks and inconsistencies associated with the varying definitions of key autism terminology. This commitment to clearly addressing the complex issues associated with ASDs continues throughout the volume and provides opportunities for further research. Additional issues addressed include: Behavioral excesses and deficits treatment Communication treatment Social awareness and social skills treatment Dietary, complementary, and alternative treatments Implementation of EBPs in school settings Interventions for sensory dysfunction With its holistic and accessible approach, Evidence-Based Practices and Treatments for Children with Autism is a vital resource for school psychologists and special education professionals as well as allied mental health professionals, including clinical child and developmental psychologists, psychiatrist, pediatricians, primary care and community providers.
Book Synopsis Autistic Spectrum Disorders in Children by : Vidya Bhushan Gupta
Download or read book Autistic Spectrum Disorders in Children written by Vidya Bhushan Gupta and published by CRC Press. This book was released on 2004-03-19 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: Impeccably researched and written by a nationally known team of specialists from neurodevelopmental pediatrics, psychology, epidemiology, education, occupational therapy, and speech therapy backgrounds, Autistic Spectrum Disorders in Children presents a multidisciplinary profile of autism and pervasive developmental disorders in children. Tracing the history of autism and tracking the latest research on its causation and neurological basis, this volume offers both traditional medical and complementary and alternative medicine approaches-as well as reliable methods for assessing treatment efficacy.
Book Synopsis Asperger's Children: The Origins of Autism in Nazi Vienna by : Edith Sheffer
Download or read book Asperger's Children: The Origins of Autism in Nazi Vienna written by Edith Sheffer and published by W. W. Norton & Company. This book was released on 2018-05-01 with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt: “An impassioned indictment, one that glows with the heat of a prosecution motivated by an ethical imperative.” —Lisa Appignanesi, New York Review of Books In the first comprehensive history of the links between autism and Nazism, prize-winning historian Edith Sheffer uncovers how a diagnosis common today emerged from the atrocities of the Third Reich. As the Nazi regime slaughtered millions across Europe during World War Two, it sorted people according to race, religion, behavior, and physical condition. Nazi psychiatrists targeted children with different kinds of minds—especially those thought to lack social skills—claiming the Reich had no place for them. Hans Asperger and his colleagues endeavored to mold certain “autistic” children into productive citizens, while transferring others to Spiegelgrund, one of the Reich’s deadliest child killing centers. In this unflinching history, Sheffer exposes Asperger’s complicity in the murderous policies of the Third Reich.
Download or read book Adult ADHD written by J.J. Sandra Kooij and published by Springer Science & Business Media. This book was released on 2012-12-11 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: Adult ADHD: Diagnostic Assessment and Treatment, Third Edition covers not only diagnostic assessment, but also comorbidity patterns as well as differential diagnosis of ADHD with for example bipolar disorder and borderline personality disorder. The symptom overlap and misdiagnosis of chronic fatigue syndrome in girls and women with the inattentive subtype of ADHD, ADD is explored. The chronic delayed sleep phase syndrome associated with ADHD based on disturbances in the circadian rhythm, and the possible consequences for general health (obesity, diabetes, cardiovascular diseases and cancer) are discussed. There are sections on ADHD and intelligence, criminality, sexuality, dyslexia and autism. Adult ADHD can be treated effectively but as yet the disorder is not always recognised by professionals and this book aims to help correct this. Diagnostic tools are included, such as the structured Diagnostic Interview for Adult ADHD (DIVA), and an ultra-short and somewhat longer screening tool, all based on the DSM-IV criteria for ADHD. Treatment options cover psychoeducation and motivation and individual and group coaching; long-acting stimulants and other new drugs for treating ADHD; use of melatonin to treat the delayed sleep-phase disorder. Useful information is included on the setting up and organisation of a department for adult ADHD with a multidisciplinary team. References, websites and useful international addresses have all been updated. Adult ADHD: Diagnostic Assessment and Treatment, Third Edition is intended for students, junior doctors/residents, psychologists, psychiatrists, other mental healthcare professionals and interested parties and provides a quick overview of the current state of the science and of the methods used in diagnosis and treatment. Adult ADHD: Diagnostic Assessment and Treatment, Third Edition was originally published by Pearson Assessment and Information BV, The Netherlands.
Book Synopsis Computers and Games for Mental Health and Well-Being by : Yasser Khazaal
Download or read book Computers and Games for Mental Health and Well-Being written by Yasser Khazaal and published by Frontiers Media SA. This book was released on 2018-07-12 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen important developments in the computer and game industry, including the emergence of the concept of serious games. It is hypothesized that tools such as games, virtual reality, or applications for smartphones may foster learning, enhance motivation, promote behavioral change, support psychotherapy, favor empowerment, and improve some cognitive functions. Computers and games may create supports for training or help people with cognitive, emotional, or behavioral change. Games take various formats, from board games to informatics to games with interactive rules of play. Similarly, computer tools may vary widely in format, from self-help or assisted computerized training to virtual reality or applications for smartphones. Some tools that may be helpful for mental health were specifically designed for that goal, whereas others were not. Gamification of computer-related products and games with a numeric format tend to reduce the gap between games and computers tools and increase the conceptual synergy in such fields. Games and computer design share an opportunity for creativity and innovation to help create, specifically design, and assess preventive or therapeutic tools. Computers and games share a design conception that allows innovative approaches to overcome barriers of the real world by creating their own rules. Yet, despite the potential interest in such tools to improve treatment of mental disorders and to help prevent them, the field remains understudied and information is under-disseminated in clinical practice. Some studies have shown, however, that there is potential interest and acceptability of tools that support various vehicles, rationales, objectives, and formats. These tools include traditional games (e.g., chess games), popular electronic games, board games, computer-based interventions specifically designed for psychotherapy or cognitive training, virtual reality, apps for smartphones, and so forth. Computers and games may offer a true opportunity to develop, assess, and disseminate new prevention and treatment tools for mental health and well-being. Currently, there is a strong need for state-of-the-art information to answer questions such as the following: Why develop such tools for mental health and well-being? What are the potential additions to traditional treatments? What are the best strategies or formats to improve the possible impact of these tools? Are such tools useful as a first treatment step? What is the potential of a hybrid model of care that combines traditional approaches with games and/or computers as tools? What games and applications have already been designed and studied? What is the evidence from previous studies? How can such tools be successfully designed for mental health and well-being? What is rewarding or attractive for patients in using such treatments? What are the worldwide developments in the field? Are some protocols under development? What are the barriers and challenges related to such developments? How can these tools be assessed, and how can the way that they work, and for whom, be measured? Are the potential benefits of such products specific, or can these additions be attributed to nonspecific factors? What are the users’ views on such tools? What are the possible links between such tools and social networks? Is there a gap between evidence-based results and market development? Are there any quality challenges? What future developments and studies are needed in the field?
Book Synopsis Fragile X Syndrome by : Fabrizio Stasolla
Download or read book Fragile X Syndrome written by Fabrizio Stasolla and published by Nova Science Publishers. This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviours and related developmental disabilities. Beside intellectual delays, behavioural problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviours are frequently observed. Although there is no specific cure, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioural and/or cognitive behavioural interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviours were included and the importance of the early combined intervention was critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argued for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behaviour (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task. Targeted readers (i.e., caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, teachers) may find interesting and stimulating tips and insights for daily use in clinical research and practice, with the dual objective of diagnosis and treatment.
Book Synopsis Autistic Spectrum Disorders by : Sarah Worth
Download or read book Autistic Spectrum Disorders written by Sarah Worth and published by A&C Black. This book was released on 2005-01-01 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism (or Autistic Spectrum Disorder) is a condition which affects a child's ability to socialise and to develop speech and language. It is a particularly challenging SEN facing teachers today. This informative guide equips teachers with a wide variety of strategies for teaching and managing pupils who are diagnosed with Autism. Well-written and engaging, this book will prove invaluable reading for teachers everywhere. >
Book Synopsis The Visitor of the Poor by : Joseph-Marie baron de Gérando
Download or read book The Visitor of the Poor written by Joseph-Marie baron de Gérando and published by . This book was released on 1832 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Cannabis and the Developing Brain by : Miriam Melis
Download or read book Cannabis and the Developing Brain written by Miriam Melis and published by Academic Press. This book was released on 2022-08-18 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Marijuana is the most commonly used psychotropic drug in the United States, after alcohol. With the legalization and decriminalization of cannabis, momentum continues to build and propelled by the reduction of stigma associated to its consumption, there is growing concern regarding the long-term impact on brain function and behavior. Cannabis and the Developing Brain aims to provide comprehensive research on the effects of cannabis during neurodevelopment stages (i.e., perinatal and adolescent ages). This book introduces readers to vivo neural circuits, molecular and cellular mechanisms affected by cannabis exposure during three different temporal windows of brain vulnerability. Second, it offers a unique insight to shared neurobiological features of cannabinoid exposure during different developmental periods. Lastly, Cannabis and the Developing Brain determines the adverse impact of developmental cannabinoid exposure on specific cognition, emotion and behaviors. Reviews exposure effects on different areas and circuits of the brain Identifies effects of exposure at prenatal, perinatal, infant, and adolescent ages Includes cannabis interaction with known genetic and environmental risk factors Contains neurodevelopment and neuropsychiatric disorders associated with cannabis exposure
