Genetics, Syndromes, and Communication Disorders

Genetics, Syndromes, and Communication Disorders PDF

Author: Robert J. Shprintzen

Publisher: Singular

Published: 1997

Total Pages: 336

ISBN-13:

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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

The Handbook of Language and Speech Disorders

The Handbook of Language and Speech Disorders PDF

Author: Nicole Müller

Publisher: John Wiley & Sons

Published: 2012-07-10

Total Pages: 674

ISBN-13: 1118448715

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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.

Handbook of Genetic Communicative Disorders

Handbook of Genetic Communicative Disorders PDF

Author: Sanford E. Gerber

Publisher: Elsevier

Published: 2001-05-11

Total Pages: 291

ISBN-13: 0080533493

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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

CHARGE Syndrome, Second Edition

CHARGE Syndrome, Second Edition PDF

Author: Timothy S. Hartshorne

Publisher: Plural Publishing

Published: 2021-01-12

Total Pages: 555

ISBN-13: 1635506573

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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.

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition PDF

Author: Donna Cutler-Landsman

Publisher: Plural Publishing

Published: 2020-01-01

Total Pages: 404

ISBN-13: 1635501717

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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

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