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 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.
Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.
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
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.
The ability to communicate through spoken and written language is one of the defining characteristics of the human race, yet it remains a deeply mysterious process. The young science of psycholinguistics attempts to uncover the mechanisms and representations underlying human language. This interdisciplinary field has seen massive developments over the past decade, with a broad expansion of the research base, and the incorporation of new experimental techniques such as brain imaging and computational modelling. The result is that real progress is being made in the understanding of the key components of language in the mind. The Oxford Handbook of Psycholinguistics brings together the views of 75 leading researchers in psycholinguistics to provide a comprehensive and authoritative review of the current state of the art in psycholinguistics. With almost 50 chapters written by experts in the field, the range and depth of coverage is unequalled. The contributors are eminent in a wide range of fields, including psychology, linguistics, human memory, cognitive neuroscience, bilingualism, genetics, development and neuropsychology. Their contributions are organised into six themed sections, covering word recognition, the mental lexicon, comprehension and discourse, language production, language development, and perspectives on psycholinguistics. The breadth of coverage, coupled with the accessibility of the short chapter format should make the handbook essential reading for both students and researchers in the fields of psychology, linguistics and neuroscience.
