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, physical, communicative, and behavioral findings in CHARGE. Authors include experts in the field, including a number from the CHARGE Center at Cincinnati Children’s Hospital Medical Center. New to the Second Edition: * Co-Editor, Kim D. Blake, MD * A chapter on Educational Issues has been added * Reorganized for a greater flow of information * All chapters have been revised and updated * References have been completely updated * More images and illustrations * Includes related videos Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.

Endocrinology is a complex specialty that spans a wide range of diseases, disorders, and conditions. The field is now moving toward an increasingly personalized approach to patient management, with a greater focus on mechanisms of disease and biomarkers. Written by internationally renowned specialists, the second edition of Endocrinology in Clinical Practice provides a cutting-edge, problem-orientated approach to the management of clinical problems in endocrinology. Highlights of the new edition include: An overview of neuroendocrine disease Strides made by the identification of aryl hydrocarbon receptor–interacting protein mutations in patients with familial isolated pituitary adenomas The diverse roles of IGF-I Changes in diagnostic imaging and the increasing use of positron emission tomography The rapidly increasing incidence of neuroendocrine tumors and their management Hereditary primary hyperparathyroidism and multiple endocrine neoplasia Mechanistic and genomic advances related to disorders of calcium regulation and infertility The endocrinology of aging Protocols for pituitary function testing With complete updates to existing chapters, the second edition also presents new research data, diagnostic techniques, treatment options, and safety concerns related to existing therapies. This edition offers current guidance and scientifically focused information relevant to a range of clinical problems, making it an essential reference for practicing endocrinologists and specialist clinicians.

Written by an internationally renowned researcher and teacher, this book provides a compendium of syndromes and dermatologic conditions. Completely revised and updated, the second edition includes genetic information, the genes and their loci, and the genetic linkage of certain syndromes that are now grouped with other diseases. The book retains the popular format of the first edition and includes color pictures of key syndromes from one of the major collections in the U.S. These features combine to make it an important book for office-based dermatologists who frequently see these problems in their practice and for dermatology residents who need this information to pass their boards.

Pediatric Life Care Planning and Case Management provides a comprehensive and unique reference that goes beyond the clinical discussion to include legal and financial aspects, life expectancy data, and assistive technology. It also includes case samples of actual plans related to specific conditions. The book is divided into five parts: Normal Growth and Development of Children describes the normal growth and development and the cognitive and psychosocial development of children. The Roles of the Life Care Plan Team details the roles of members of a life care plan team, from the pediatric care manager and life care planner to the vocational rehabilitation consultant, among others. Chronic Conditions and Disability States offers guidelines for life care planning for children with a wide range of chronic health conditions and disabilities, including traumatic injuries and organ transplants. Forensic Considerations examines life care planning in legal cases, life expectancy issues, and life care plan foundation strategies and requirements. Special Issues discusses assistive technology, medical homes, funding sources, and ethical issues in caring for children with special needs—including a mother’s perspective on caring for her son. With contributions from highly respected professionals, this text provides a guide for life care planners, health-care professionals, education specialists, insurance decision makers, attorneys, and families who work with children with special health-care needs.

The Comprehensive Handbook of Pediatric Audiology, Second Edition is the most wide-ranging and complete work of its kind, and has become the definitive reference in the specialty area of pediatric audiology. Content areas range from typical auditory development, to identification and diagnostic processes, to medical and audiologic management of childhood hearing and ear disorders. An interdisciplinary assembly of sixty-six internationally recognized experts from the fields of audiology, speech-language pathology, education, pediatric medicine, otology, and hearing science have contributed to this second edition. Building from the success of the first edition, and aligning with the evolution of the profession, this edition expands and deepens its coverage of early identification of hearing loss, etiology and medical considerations, and hearing technologies, especially implantable devices and the measurement of outcomes resulting from intervention. Updates to the new edition include: New chapters on the measurement of outcomes resulting from intervention, preventable hearing loss, implementation of newborn hearing screening programs, and the future of implantable devices, among othersReorganization for improved sequencing of content areaSubstantially updated chapters The Comprehensive Handbook of Pediatric Audiology, Second Edition is intended for use in doctoral-level education programs in audiology or hearing science, as well as to serve as an in-depth reference source for practicing audiologists and other professionals, educators, scientists, and policy makers seeking current and definitive information on evidence-based pediatric audiology practice.

The second edition of Disorders of the Auditory System reflects the combined efforts of renowned audiologists and otologists to provide the reader with both the audiologic and medical aspects of auditory dysfunction associated with disorders of the peripheral and central auditory system. This book includes numerous insightful case studies covering both classic and unique clinical presentations that will provide informative reading for students and professionals in the fields of audiology, otology, and neurology. The book also includes color images of video otoscopy. New to the Second Edition: * Coverage of additional auditory disorders, including meningitis, cytomegalovirus, enlarged vestibular aqueduct syndrome, and barotrauma * New case studies * Updated references and resources Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.

Revised in line with feedback from users of the first edition, this practical clinical resource boasts a worldwide array of contributors, including the most prominent pediatric nephrologists in the US. Excellently illustrated with photomicrographs and clinical diagrams supporting the chapters, Clinical Pediatric Nephrology features expanded case histories relating to the discussion and management of renal disease – thus ensuring that this is a highly useful reference tool for nephrologists and house officers in practice, as well as nephrology fellows in training.

The Pocket Book is for use by doctors nurses and other health workers who are responsible for the care of young children at the first level referral hospitals. This second edition is based on evidence from several WHO updated and published clinical guidelines. It is for use in both inpatient and outpatient care in small hospitals with basic laboratory facilities and essential medicines. In some settings these guidelines can be used in any facilities where sick children are admitted for inpatient care. The Pocket Book is one of a series of documents and tools that support the Integrated Managem.

A beautifully illustrated, rhythmic story about a young girl's life with special needs. Through her brave attitude, and silly humor, Moriah is an inspiration for us all. This is a book that families can enjoy together with a timeless message about love and acceptance, and just saying "hiya" when making a new friend with different abilities. The bonus picture glossary and "What's This? What's That?" page in Hiya Moriah creates a space for children to celebrate how special and unique each of them were made to be.

Concise Paediatrics, Second Edition is essential reading for all postgraduates training in paediatrics, particularly when preparing for the MRCPCH exam, and for general practice trainees preparing for the DCH exam. As a comprehensive but concise reference to any condition they are likely to encounter on the wards or in the accident and em