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Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition
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 ...
Velo-Cardio-Facial Syndrome
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.
The Brugada Syndrome
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, prognosi...
Here's How to Treat Childhood Apraxia of Speech, Second Edition
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 ...
Yearning for Normal
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.
CHARGE Syndrome, Second Edition
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,...
Waardenburg Syndrome
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Cleft Palate Speech and Resonance
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 concept...
The Penguin Book of the Contemporary British Short Story
'Sometimes - not often - a book comes along that feels like Christmas. Philip Hensher's timely, but timeless, selection of the best short stories from the past 20 years is that kind of book. His introduction is as enriching as anything that has been published this year' Sunday Times A spectacular treasury of the best British short stories published in the last twenty years We are living in a particularly rich period for British short stories. Despite the relative lack of places in which they can be published, the challenge the medium represents has attracted a host of remarkable, subversive, entertaining and innovative writers. Philip Hensher, following the success of his definitive Penguin Book of British Short Stories, has scoured a vast trove of material and chosen thirty great stories for this new volume of works written between 1997 and the present day.
