Many professionals in the communicative sciences are relative newcomers to the understanding of genetics as it applies to communicative disorders. A speech-language clinician certainly can diagnose and treat stuttering, for example, but that clinician may not be fully aware of the role of a genetic counselor for the family of a stutterer. An audiologist may be able to assess a hearing impairment, but an understanding of the underlying genetics of that impairment would make that person a better audiologist. The medical geneticist, similarly, could have an inadequate appreciation of how our genes may affect language function. All of these professionals need a source that brings together essential ideas from related disciplines.This is a book about human communication, both normal and disordered, and how our communication abilities are affected by our genes. Many, probably most, communicative disorders are of genetic origin, even if not exclusively genetic. A knowledge of genetics, therefore, is essential to our understanding of communication, of communicative disorders, of how such disorders come about, and of how to deal with them.This is the only book to consider the genetics of communicative disorders from a broad perspective. It examines genetics, embryology, and epidemiology, along with study of the hearing, speech, and language disorders themselves. It also introduces review of issues relevant to genetic counseling and ethics. It is a unique and comprehensive work whose contributors are the leading experts in their respective disciplines.* Only book available to consider all communicative disorders* Unparalleled scrutiny of the sciences basic to the genetics of communicative disorders* Specific attention paid to clinical and ethical issues

The Handbook of Speech and Language Disorders presents a comprehensive survey of the latest research in communication disorders. Contributions from leading experts explore current issues, landmark studies, and the main topics in the field, and include relevant information on analytical methods and assessment. A series of foundational chapters covers a variety of important general principles irrespective of specific disorders. These chapters focus on such topics as classification, diversity considerations, intelligibility, the impact of genetic syndromes, and principles of assessment and intervention. Other chapters cover a wide range of language, speech, and cognitive/intellectual disorders.

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.

To stay current with their profession, speech-language, and hearing clinicians and students must have a strong working knowledge of genetic disorders and their associated symptoms. Dr. Shprintzen's comprehensive manual provides a clear, understandable overview of human genetics and the modes of inheritance directly related to communicative disorders, as well as the proper methodology taking a detailed medical, behavioral, and genetic history for diagnosis, treatment, and prognosis. TEXTBOOK

This revised, updated Second Edition continues to give students a strong foundation in neuroanatomy as it applies to speech-language pathology and audiology. New features include: additional and revised color illustrations and tables to reinforce technical details; an expanded clinical discussion section with more case studies; and a technical glossary in the appendix. This concise, yet comprehensive, user-friendly book is the only neuroscience text that meets the educational needs of students who study communication disorders. For more information, visit http://connection.LWW.com/go/bhatnager.

Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to practice aiming to improve outcomes in the clinic and have a healthy baby at home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus.

INTRO: A Guide to Communication Sciences and Disorders, Third Edition is designed for the undergraduate student with an interest in entering the field of communication sciences and disorders. INTRO is an introduction to the professions of speech-language pathology and audiology and the underlying discipline on which they are based, communication sciences and disorders. This text provides essential information concerning a wide range of communication disorders found in children and adults. Key Features: A strong international focus with coverage of country-specific incidence and prevalence of various communication disorders.Each chapter begins with learning objectives and ends with study questions to review key concepts.Bolded key terms and a comprehensive glossary improve retention of the material.The text includes real-life examples in the form of video links to help reinforce the information in the text. New to the Third Edition: A reorganized chapter on communication disorders and the professions for greater flow of information (Chapter 1).A NEW chapter on alternative and augmentative communication (Chapter 10).Thoroughly updated chapters on audition (Chapters 12 and 13). INTRO is beautifully illustrated and written in an engaging, yet straightforward approach, with an overview of the formative history, as well as current theories and research provided for each disorder. The sole authorship of the book ensures a uniform writing style, which is often missing from introductory texts. The book holds worldwide appeal and is written for an international audience. For some, this book may serve as a springboard for the pursuit of a career in audiology and speech-language pathology; nevertheless, every reader will acquire an appreciation of the gift of communication. 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.

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements