Genetics And Hearing Loss

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.

This book systematically discusses the pathogenesis, prevention, and the current and potential clinical treatment of hearing loss, as well as the latest advances in hearing research. Hearing loss is a prevalent sensory disorder, which according to a 2015 World Health Organization (WHO) report affected 9% of the global population in 2015. As populations continue to age, more and more people are suffering from the condition, with 60% of those aged between 65 and 75 affected. Hearing loss seriously affects patients’ ability to work ability and quality of life, and as such deafness has become an increasingly urgent social problem around the globe. Sensorineural hearing loss is mainly caused by damage to the hair cells (HCs), and the subsequent loss of spiral ganglion neurons (SGNs). Damage to the HCs in the inner ear can result from exposure to loud noises and environmental and chemical toxins as well as genetic disorders, aging, and certain medications. This book provides ENT specialists and researchers, as well as individuals affected a comprehensive introduction to the field of hearing loss.

This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.

The field of generic hearing impairment is one where rapid advances are taking place, and it can often be difficult for Audiologists to keep track of the broader picture. In this important new text the authors take a synoptic approach and summarize the causes and basis of hearing impairments, the impact on the individual and the therapies available

For clinical researchers in audiology and otolaryngology, this fifth book in the Kresge- Mirmelstein Award series features the proceedings of the 1998 symposium. The book includes contributions from leading researchers on genetic causes of hearing loss and includes a CD-ROM containing audio and video footage from a Balinese village with a large genetically deaf population that have adopted a sign language indigenous to their culture. The CD-ROM also features samples of American Sign Language and Cued Speech. In the tradition of Berlin's previous work this book presents stunning new and evocative information for both researchers and clinicians.

A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available. To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.

This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologist

There has been an explosion of studies in the field of genetic hearing impairment in the past decade, associated with major advances in our understanding of the mechanisms and conditions involved. However, a recent review has highlighted the very limited number of studies on the effects of such hearing impairment on the individuals and families of those concerned. In The Effects of Genetic Hearing Impairment in the Family, under the aegis of the European Union GENDEAF programme, the editors have taken the first steps to address this deficit in our knowledge and understanding of this topic. The book addresses the problem by secondary analyses of existing large scale population studies, by prospective investigation of individuals with a family history of hearing impairment and by specific studies on patients with otosclerosis and neurofibromatosis 2 and their families. In addition several chapters look at the specific impact of deaf culture, ethnicity and religion on reactions to deafness and the specific needs in genetic counselling. This book represents an important first step in this field and should be an invaluable resource for all professionals involved with people with hearing impairments.