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From The CriticsReviewer: Duane Superneau, MD (Genetic Services of Louisiana, LLC)
Description: This book is unique among genetic texts. As the title indicates, Management of Genetic Syndromes focuses on providing specific information about issues of management for genetic disorders. In the words of the editors, "each chapter in this book is dedicated to the diagnosis and management of a specific syndrome." More than 50 syndromes and two teratogenic disorders are included. This doubles the number of conditions covered in the first edition, published in 2001
Purpose: This book provides information on optimal care for those affected with specific genetic disorders. As the Foreword to the first edition begins, "This is a book whose time has come." How true! Updated and expanded, this second and future editions will be necessary as knowledge advances. Having information on management issues for specific genetic syndromes in a readable format and readily available is valuable and likely to prove indispensable. The information on each disorder is authored by an acknowledged expert who can provide known and personal experience on the condition. The book meets its objectives.
Audience: The syndromes included are sufficiently common that this book should have a wide audience. Specialists will more likely encounter affected individuals and have need for the information which they can provide to patients and families, and include in their genetic counseling. In addition, specialists can share the information with the primary care physician. Primary care providers will have a useful resource when they do encounter a patient or family affected with one of these disorders. This book should be available in medical libraries for students and residents as well. Generally, genetic specialists and those inclined will find this book a useful addition to their personal libraries.
Features: After an introduction, the syndromes are arranged alphabetically and the format for each chapter is similar. After general, descriptive, genetic, and diagnostic information about the syndrome, manifestations and management are reviewed beginning with growth and feeding, then development and behavior. Subsequently, body systems and problems relevant to each syndrome are discussed. Photographs illustrate physical features to aid diagnosis. Each chapter concludes with a listing of selected support organizations and resources that may prove helpful for patients and their families.
Assessment: Until recently, clinical genetics focused on description and diagnosis of specific disorders. Information about management was hard to find and searching for it could prove time consuming. Having a single source with information about issues related to management fills a need not previously addressed in any single book. Specialists will have access to needed information to be shared with the patient, the family, and the primary care provider. For the healthcare provider with little direct knowledge of the disorders, this book is a ready source of general information, inheritance, pathogenesis, and etiology as well as the management. The photographs that aid in recognition of syndrome features are useful, but many could be improved in clarity and focus. This can be addressed in future editions because advancing knowledge will require revisions and updates. New editions will remain welcome.