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 Educating Children with Velo Cardio Facial Syndrome written by Donna Cutler-Landsman and published by Plural Publishing. This book was released on 2012-10-26 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the scientific information needed to understand the syndrome and the implications of current research. It presents the results of studies involving brain abnormalities, language/learning profiles and psychiatric/behavioral difficulties. The second part of the book is a practical guide to educating a child with VCFS from birth through adulthood.

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 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 The Brugada Syndrome written by Charles Antzelevitch and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Until recently, the cellular basis for sudden death, the BrugadaSyndrome, has largely remained an unknown to modernarrhythmologists and cardiologists, particularly in the absence ofany structural heart disease. Detailed observations of age-groups,especially the young, families and populations where sudden deathfrequently occurs, and improved understanding of its contributoryfactors and mechanisms are, however, showing the way forward. This addition to the Clinical Approaches to Tachyarrhythmias(CATA) Series, written by the investigators who discovered andprobed the Brugada Syndrome, discusses the history, etiology,pathology and clinical manifestations of sudden death. Fromdiagnosis, prognosis, to therapeutic approaches using the latest incathater ablation techniques, electrophysiological surgery, andgenetic appraisal, the work is a testimony to the author'sinvestigation. Using clinical cases in Thailand and Laos, theyfurther unravel the syndrome's molecular mechanisms, studyingrelated syndromes, such as the long-QT syndrome, infant death, andarryhthmogenic right ventricular cardiomyopathy. By being informed of the electrophysiological abnormalities thatcontribute to familial and genetic diseases, physicians,cardiologists and all those who care for patients with cardiacarrhythmias will be better able to identify and treat patients inwhom the Brugada Syndrome may strike next.

Download or read book Educating Children with Velo cardio facial Syndrome written by Donna Cutler-Landsman and published by Plural Publishing. This book was released on 2007 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The genetic test to determine if a child has velo-cardio-facial-syndrome (VCFS) has only been available since 1994. This text effectively examines the practical and educational strategies to better meet the needs of children with VCFS and other developmental disabilities.

Download or read book Here s How to Treat Childhood Apraxia of Speech Second Edition written by Margaret Fish and published by Plural Publishing. This book was released on 2015-09-30 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here's How to Treat Childhood Apraxia of Speech, Second Edition is the most comprehensive textbook available addressing assessment, diagnosis, and treatment of childhood apraxia of speech (CAS). This text is the definitive reference for students and professionals seeking current best practices in treating children with CAS. The book is divided into three parts. Part I defines CAS, describes those characteristics most commonly associated with CAS, and offers guidelines for conducting a thorough motor speech evaluation to support an accurate differential diagnosis. Part II summarizes the principles of motor learning and provides clear guidance for how these principles can be put into practice when working with children with CAS. Part III addresses specific topics of interest to clinicians and students looking for practical ideas on how to address the multifaceted challenges of children with CAS such as vowels, prosody, expressive language, social language, and incorporating phonological awareness in CAS treatment. Additional recommendations are provided for supporting the needs of children with limited verbal output and older children with ongoing communicative challenges, working with parents, developing treatment plans, and writing meaningful goals and objectives. Each chapter of this second edition has been updated to incorporate the most current evidence-based information available on CAS. In addition, five new chapters have been added, including: Principles of Motor Learning and Their Application to Treatment of CAS (Chapter 4)Evidence-Based Treatment Programs for Children with CAS (Chapter 10)Supporting the Needs of Older Children with Ongoing Communicative Challenges (Chapter 15)Using Apps with Children with CAS (Chapter 21)Developing Meaningful Goals for Children with CAS (Chapter 23) Here's How to Treat Childhood Apraxia of Speech, Second Edition will be of value to speech-language pathologists and students looking for practical, evidence-based recommendations for addressing the diverse needs of children with CAS. This title is a volume in Plural's "Here's" How" series.

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 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 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 Yearning for Normal written by Susan Ellison Busch and published by Createspace Independent Publishing Platform. This book was released on 2013-08-13 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: This award winning book tells a mother's story of raising her son Michael, who was born missing a submicroscopic piece of chromosome 22. That tiny missing fragment of DNA affected every aspect of his life physically, mentally, and spiritually. Michael's mother describes her adventures and misadventures with the medical system, educational system, and legal system during his growing up years. While Michael and his mother were both yearning for normal through their struggles, they were also learning acceptance of life as it is with all its glory and imperfections. This heartbreaking journey takes readers through hospitals, backyards, schoolrooms, psychiatric wards, court rooms, a burn unit, and the corridors of Susan's heart. This story is not just for parents of children with special needs, but for their friends, neighbors, doctors, nurses, teachers, speech therapists, social workers, police officers, paramedics, firefighters, ministers and whoever else likes a good story. This story is also for those who have watched someone they love suffer, and felt hopeless and powerless, wondering where God was in the midst of the pain.

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 The Abilities in Me written by Gemma Keir and published by Independently Published. This book was released on 2019-01-23 with total page 32 pages. Available in PDF, EPUB and Kindle. Book excerpt: This picture book is dedicated to children born with a condition called 22q deletion, also known as DiGeorge Syndrome. Explore the day in the life of a young boy with 22q through bright, colourful illustrations and text. Perfect for teachers, parents and children alike, this book will bring awareness of the condition and teach children how to be supportive and be kind. This is the first book released from The abilities in me book series. This collection of books will show how each child can celebrate their abilities within their disability, find acceptance and create awareness to those around them. Dedicated to Logan Keir, age 6 with 22q deletion.

Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.

Download or read book Velo Cardio Facial Syndrome written by Robert J. Shprintzen and published by Plural Publishing. This book was released on 2008-07-01 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Osler s Web written by Hillary Johnson and published by Penguin (Non-Classics). This book was released on 1997 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tenth year anniversary edition with an update by the author "A relentless, meticulous, and highly persuasive expos by a journalist who spent nine years investigating the medical research establishment's failure to take seriously chronic fatigue syndrome... In a chronology that runs from 1984 to 1994, Johnson crams in fact after telling fact, building up a dismaying picture of a rigid and haughty biomedical research establishment unwilling or unable to respond to the challenge of a multifaceted disease for which a causative agent has yet to be found... A compelling, well-documented account..."Kirkus Reviews

Download or read book Handbook of Pragmatic Language Disorders written by Louise Cummings and published by Springer Nature. This book was released on 2021-09-22 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference work is the first to examine pragmatic language disorders of clients in complex and underserved populations. In chapters written by a range of experts, the unique pragmatic language skills of clients are examined, allowing for a broad overview. The text gives focus to client groups ​with complex cognitive and psychiatric problems and children and adults that have been underserved by clinical language services ​because of maltreatment and social exclusion. Pragmatic disorders are examined in ​children ​with sensory loss, children who have been exposed to HIV and substance abuse, and adults with Huntington's disease and other complex neurodegenerative pathologies. This Handbook is an essential reference for researchers and clinicians in speech-language pathology, linguistics, psychology, and education.