Download or read book Educating Children with Velo Cardio Facial Syndrome 22q11 2 Deletion Syndrome and DiGeorge Syndrome Third Edition written by Donna Cutler-Landsman and published by Plural Publishing. This book was released on 2020-01-01 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements

Download or read book Velo Cardio Facial Syndrome written by Kieran C. Murphy and published by Cambridge University Press. This book was released on 2010-12-23 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.

Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

Download or read book Velo Cardio Facial Syndrome Volume 2 written by Karen J. Golding-Kushner and published by Plural Publishing. This book was released on 2011-04-01 with total page 153 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Secondary Schizophrenia written by Perminder S. Sachdev and published by Cambridge University Press. This book was released on 2010-02-04 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.

Download or read book CHARGE Syndrome Second Edition written by Timothy S. Hartshorne and published by Plural Publishing. This book was released on 2021-01-12 with total page 555 pages. Available in PDF, EPUB and Kindle. Book excerpt: It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech. Each of the editors is an established expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Stars in CHARGE. They represent three different disciplines: psychology, genetic counseling, and clinical pediatrics. Additional information and studies on CHARGE have advanced to the degree that warrant a second edition of this book. As in the first edition, this book describes the sensory, physical, communicative, and behavioral findings in CHARGE. Authors include experts in the field, including a number from the CHARGE Center at Cincinnati Children’s Hospital Medical Center. New to the Second Edition: * Co-Editor, Kim D. Blake, MD * A chapter on Educational Issues has been added * Reorganized for a greater flow of information * All chapters have been revised and updated * References have been completely updated * More images and illustrations * Includes related videos Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.

Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Download or read book Missing Genetic Pieces written by Sherry Baker-Gomez and published by Missing Genetic Pieces. This book was released on 2004 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

Download or read book A Different Life written by Quinn Bradlee and published by Hachette UK. This book was released on 2010-03-02 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ten percent of the population is affected by a learning disability, but few of us understand what being learning disabled (LD) is really like. When he was fourteen, Bradlee was diagnosed with Velo-Cardio-Facial-Syndrome (VCFS), a wide-spread, little-understood disorder that is expressed through a wide range of physical ailments and learning disabilities. In this funny, moving, and often irreverent book, Bradlee tells his own inspirational story of growing up as an LD kid -- and of doing so as the child of larger-than-life, formidably accomplished parents: long-time Washington Post executive editor Ben Bradlee and bestselling author Sally Quinn. From his difficulties reading social cues, to his cringe-worthy loss of sexual innocence, Bradlee describes the challenges and joys of living "a different life" with disarming candor and humor. By the end of A Different Life he will have become, if not your best friend, one of your favorite people.

Download or read book Cleft Palate Speech Management written by Robert J. Shprintzen and published by St. Louis : Mosby. This book was released on 1995 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Brandon Hill Title

Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field

Download or read book Color Atlas of Pediatrics written by Richard P. Usatine and published by McGraw Hill Professional. This book was released on 2014-05-22 with total page 1403 pages. Available in PDF, EPUB and Kindle. Book excerpt: ACCURATELY DIAGNOSE PEDIATRIC CONDITIONS BY VISIBLE SIGNS AND INTERNAL IMAGING WITH THIS FULL-COLOR ATLAS The Color Atlas of Pediatrics features more than 1,800 full-color photographs to help you visually diagnose a wide variety of common and uncommon conditions and disorders spanning the entire pediatric spectrum. This superb collection of clinical images is supported by concise, evidence-based treatment recommendations presented in easy-to-apply bulleted text. Each chapter begins with a patient story that ties the photographs to real-life patients. Coverage for conditions includes: Epidemiology Etiology and Pathophysiology Risk Factors Diagnosis Differential Diagnosis Management Prevention Patient Education Strength of recommendation ratings are cited throughout, skillfully blending the art and science of medicine for optimal patient care.

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book Cleft Palate Speech and Resonance written by Linda D. Vallino and published by Plural Publishing. This book was released on 2018-05-18 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cleft Palate Speech and Resonance: An Audio and Video Resource is a clinical tool to train students and clinicians to reliably identify articulation, resonance, nasal air emission, and voice aspects of cleft palate speech. The resource contains high-quality audio and video recordings of speech samples and case studies that represent a variety of speech symptoms associated with cleft palate. In addition, it includes a brief overview of the velopharyngeal mechanism and a protocol for the clinical assessment of patients with cleft-related speech disorders. All information presented is evidence based and reflects the most current knowledge on cleft palate speech. Assessment and treatment concepts in cleft care have changed significantly over the past 25 years. Speech-language pathologists need easy access to new information and state-of-the-art resources that explicitly deal with cleft care. Because children with cleft lip and palate constitute a low-incidence population, many practitioners have limited academic or clinical training in this area. The goal of this resource is to improve the knowledge base and clinical skills of practitioners by presenting current information through a range of auditory-perceptual experiences. Key Features: * Case studies with an extensive array of audio and video samples of recorded speech disorders produced by individuals with cleft palate * Addresses both knowledge and skills by presenting a wide range of auditory-perceptual experiences and content knowledge that will help students and clinicians identify the variety of speech disorders in cleft palate and the methods by which to assess them * The speech samples reflect current thinking and it contain 101 high-quality digital speech samples and cases - more than any other current text * Provides the reader with concise yet complete descriptions of the speech features associated with cleft palate and a systematic approach to assessing speech, resonance, and phonation * Presents opportunities for independent practice in listening and analyzing a variety of communication disorders and complexity and comparing perceptual findings with the authors For instructors of speech-language pathology, Cleft Palate Speech and Resonance provides a much-needed teaching resource that is necessary to understanding and identifying speech disorders in speakers with cleft palate. Practicing speech-language pathologists can use it to retool their skills and it is also a great resource for dental and medical students and residents as well as those practitioners who already serve a cleft palate team.

Download or read book Waardenburg Syndrome written by Alice Kahn and published by Plural Publishing. This book was released on 2006-06-01 with total page 151 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Therapy Techniques for Cleft Palate Speech and Related Disorders written by Karen J. Golding-Kushner and published by Singular Publishing Group. This book was released on 2001 with total page 175 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinicains need a hands-on clinical manual that gives proven techniques for managing the speech and voice disorders that result from this congenital condition. Therapy Techniques for Cleft Palate Speech and Related disorders gets straight to the point by identifying compensatory articulation patterns and providing step-by-step guidelines for their prevention and elimination. Communication Disorders / Medical

Download or read book Normal and Abnormal Fetal Face Atlas written by Jean-Marc Levaillant and published by Springer. This book was released on 2017-03-07 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas offers a guide to studying the fetal face by means of ultrasound analysis. It describes key phases in cranial-facial development, allowing the reader to learn the related semiology from its most simple iteration to the most complex one. The overall examination of a newborn’s face offers a rich source of information and can guide the general examination. The same applies in the context of fetal ultrasound examination. The analytical study of the fetal face not only makes it possible to screen for anomalies related to the face itself, but also yields valuable insights into the brain, the limbs, and the heart. In addition, it allows ultra-sonographers to unravel the puzzle of fetal dimorphism. Written in a pedagogical style, the book guides walks the reader through the diagnostic reasoning process step by step. The authors are pioneers in this field and teach in various university and master’s degree ultrasound programs. Their aim is to share with readers their diagnostic approaches and their knowledge and passion for 2D and 3D ultrasound techniques. Each chapter includes algorithms, biometry curves, and simple guidelines that allow users to go “from sign to syndrome”. The first chapter, which focuses on innovative embryology adapted to the needs of ultra-sonographers, was written by Gérard Couly, a maxilla-facial surgeon and the founding father of the specialty>