Genetics Syndromes And Communication Disorders
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Author | : Robert J. Shprintzen |
Publisher | : Singular |
Total Pages | : 336 |
Release | : 1997 |
Genre | : Language Arts & Disciplines |
ISBN | : |
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
Author | : Nicole Müller |
Publisher | : John Wiley & Sons |
Total Pages | : 674 |
Release | : 2012-07-10 |
Genre | : Language Arts & Disciplines |
ISBN | : 1118448715 |
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.
Author | : Nathaniel H. Robin |
Publisher | : Plural Publishing |
Total Pages | : 201 |
Release | : 2008-02-04 |
Genre | : Medical |
ISBN | : 1597568465 |
Author | : Gregory O'Brien |
Publisher | : Cambridge University Press |
Total Pages | : 236 |
Release | : 1995 |
Genre | : Medical |
ISBN | : 9781898683063 |
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.
Author | : G. Bradley Schaefer |
Publisher | : McGraw Hill Professional |
Total Pages | : 385 |
Release | : 2013-11-22 |
Genre | : Medical |
ISBN | : 0071819282 |
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.
Author | : Alice Kahn |
Publisher | : Plural Publishing |
Total Pages | : 151 |
Release | : 2006-06-01 |
Genre | : Medical |
ISBN | : 1597567620 |
Author | : Donna Cutler-Landsman |
Publisher | : Plural Publishing |
Total Pages | : 404 |
Release | : 2020-01-01 |
Genre | : Medical |
ISBN | : 1635501717 |
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
Author | : Robert J. Shprintzen |
Publisher | : Singular |
Total Pages | : 508 |
Release | : 2000 |
Genre | : Language Arts & Disciplines |
ISBN | : 9780769300191 |
This book provides a synopsis of the important communicative impairments associated with 160 multiple anomaly syndromes likely to be encountered by speech-language pathologists. It describes the types of speech, voice, resonance, language, and cognitive disorders associated with each syndrome and provides up-to-date information about the etiology of each of the disorders. Summarized for each entry are a listing of the anomalies associated with the syndromes, the natural history of the disorder, and the treatment prognosis, which allows proper choices of treatment plans, and differential diagnosis. This handy pocket reference is liberally illustrated with examples of the many syndromes described.
Author | : Stephen Deutsch |
Publisher | : BoD – Books on Demand |
Total Pages | : 214 |
Release | : 2011-08-01 |
Genre | : Science |
ISBN | : 9533074957 |
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.
Author | : Sanford E. Gerber |
Publisher | : Elsevier |
Total Pages | : 291 |
Release | : 2001-05-11 |
Genre | : Psychology |
ISBN | : 0080533493 |
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