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The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.
The incidence of handicap from syndromes and inherited disorders is worldwide and causes common problems for families and society. This book includes ten extra syndromes in an endeavour to keep up with the rapidly expanding knowledge associated with genetic disorders.
The third edition of Clinical Audiology: An Introduction provides a comprehensive enhancement of all the introductory material available in previous editions of this stimulating textbook. Students can gain an understanding of the scope of the field of audiology and feel prepared to dive deeper into the subject as they progress through their courses. This essential book, now with even more exciting content and features, focuses on the clinical nature of audiology to familiarize students with the many challenging questions encountered by an audiologist. This textbook is intended primarily for beginning-level students in the fields of audiology and speech-language pathology. It is intended for the first major courses in audiology, whether it be at the undergraduate or graduate level. Whether your goal is to pursue a career as an audiologist or a speech-language pathologist, Clinical Audiology: An Introduction, Third Edition is the most comprehensive, accessible book available to provide you with the clinical understanding to advance in your chosen field. New to the Third Edition: * New coauthor: Virginia Ramachandran, MSW, AuD, PhD * Two new chapters on implantable hearing technology and hearing assistive and connectivity technologies * Updated descriptions of hearing disorders and their causes * Expanded focus on diagnostic approach strategies * Expanded audiological treatment section * Updated hearing aid technology and verification approaches * An introduction to vestibular system assessment Key Features: * Learning objectives at the beginning of each chapter preview the concepts to be discussed. * End of chapter discussion questions aid students in applying concepts. * End of chapter summaries outline the key points from the chapter improve retention * Margin notes provide key terms and definitions. * Clinical notes describe particular techniques students might consider using * Comprehensive glossary and index
Now in its third edition, this high-quality, informative textbook presents intellectual disability and psychiatric presentation through the ages, to present a clear focus on issues relevant to psychiatric aspects for children and adults, at different stages of life. An ideal text for all psychiatrists, in training and in practice, this up-to-date, comprehensive guide to the understanding of intellectual disability features links to specific psychiatric competencies, vital for those undergoing training. Covering the breadth of psychological, service and biological factors affecting people with intellectual disability, this edition includes updates on a wide range of issues: from psychiatric diagnosis and management, through genetic causation, behaviour, health issues, mortality to delivery of services (historic and current). Key for multiple professional groups, and authored by leading specialists, this text provides the definitive collection of cutting-edge research on the psychiatry of intellectual disability.
Completely revised, the second edition of Key Topics in Neonatology provides a practical, systematic reference for all the major topics in neonatal medicine. Practical and easy to use, the book retains the same well-received format as the first edition, updates subject matter where significant recent developments have taken place, and widens the scope of the text by adding entirely new coverage. Distilling this large body of information into compact yet clear topics, the authors provide succinct reviews of issues that are often skimmed over in similar sized texts. This is the resource you will want on hand to solve the complex issues you face on a daily basis. New topics include: Abdominal Wall Defects Breast Feeding Cerebral Palsy Hearing Screening Hepatitis C Metabolic Acidosis Outcomes of Neonatal Intensive Care Updated topics include: Childbirth Complications and Fetal Outcome Chromosomal Abnormalities Chronic Lung Disease Complications of Mechanical Ventilation Congenital Malformations and Birth Defects Death of a Baby Extreme Prematurity Hepatitis B HIV/AIDS Immunisation Infants of Diabetic Mothers Jaundice Liver Disorders Maternal Drug Abuse Neonatal Screening for Inherited Disease Sedation and Analgesia on the Neonatal Intensive Care Unit Seizures Transfusion of Blood and Blood Products Transport of Sick Neonates, and more
This book provides a completely new approach to planning and study for all childcare courses. Written by the country's leading childcare authors, A-Z of Childcare explains the most effective methods of study, and presents outline plans to all the key curriculum areas.
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .