The Chromosome 22q11.2 Deletion Syndrome
A Multidisciplinary Approach to Diagnosis and Treatment
1st Edition – August 19, 2022
The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on associated features, treatment strategies, prognosis, and recurrence risk associated with 22q11.2 deletion syndrome. Leading international contributors cover all areas, with an emphasis on multidisciplinary care, as this book is written by experts in every subspecialty, including cardiology, behavioral health, education, endocrinology, gastroenterology, hematology, immunology, neurology, ophthalmology, plastic surgery, and speech pathology, among other fields, providing an unmatched resource. With full color images and beautiful photos of individuals with the 22q11.2 deletion that enhance understanding of associated conditions, no question, this textbook has already become the “go-to” resource for clinicians, researchers, trainees, and families alike.
- 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
Available on all the usual retail outlets, as well as at Elsevier.com The Chromosome 22q11.2 Deletion Syndrome – 1st Edition (elsevier.com) in print and electronic format. It is also available in html and pdf format on ScienceDirect.
Velo-Cardio-Facial Syndrome: Diagnosis and Evaluation v. 1
by Robert J Shprintzen and Karen Golding-Kushner
With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat. However, the authors of this new book contend that treatment techniques are not at all complex and perceived problem arise from a basic lack of understanding, and lack of education in graduate courses. To demonstrate and to provide clinicians with expert guidance, they have produced here a comprehensive combination of text and video demonstrating the clinical features of Velo-Cardio-Facial Syndrome (VCFS); the communication phenotype in VCFS; the natural history of speech and language in VCFS; diagnostic procedures necessary for assessing speech and language disorders in VCFS; the treatment of speech and language impairment in VCFS; and outcomes, demonstrated by video on an accompanying DVD.
Velo-cardio-facial Syndrome: v. II: Treatment of Communication Disorders
by Robert J Shprintzen and Karen Golding-Kushner
With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat.
Volume II includes speech and language difficulties most often associated with VCFS; the aspects of articulation and resonance, how they are best evaluated, and surgical management; general principles on how to make articulation therapy successful for children with cleft palate, VCFS, or both, many of which apply to language therapy and other behaviors, as well; and insights into prevention of the abnormal articulation patterns that tend to develop and how to guide children through stages of language development.
The DVD includes all images from the book, along with 80 video clips that present normal and abnormal conditions and illustrate anomalies in VCFS through nasopharyngoscopy and videofluoroscopy examples.
Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders
by Kieran C Murphy and Peter J Scambler
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.
Therapy Techniques for Cleft Palate Speech and Related Disorders
Authored by Karen J. Golding-Kushner, PH.D
In addition to a solid foundation on the anatomy, physiology, and surgical management of cleft palate, students 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. Learn the foundational material and gain an understanding of clinical management of cleft palate speech.