PDF-(BOOS)-CHARGE Syndrome, Second Edition (Genetic Syndromcs and Communication Disorders)

CHARGE syndrome occurs in approximately 11000015000 births worldwide is extremely complex and has varied medical and physical manifestations 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 communicationrelated problems including hearing vision balance breathing swallowing and speech. What has gone wrong?. 2. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction.. illustrative examples:. . Project goals:. identify. all the approximately 20,000-25,000 genes in human DNA. determine. sequences of the 3 billion chemical base pairs that make up human DNA. Karyotype. Genetic Disorders. Major types of genetic disorders:. Project goals:. identify. all the approximately 20,000-25,000 genes in human DNA. determine. sequences of the 3 billion chemical base pairs that make up human DNA. Karyotype. Genetic Disorders. Major types of genetic disorders:. Overview. Serious health issues can occur when there are problems with an organisms DNA.. Objectives:. 1. What is a karyotype? . 2. What is nondisjunction?. 3. Distinguish between the . chromosomal alterations. Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . Video-Down Syndrome. http://www.sosq.vcu.edu/videos.aspx. The image you see is called a karyotype and there is a chromosome missing. How do you think this happens? . Work with a partner and answer the following question:. Completely revised with the latest research and clinical strategies, this is the authoritative volume on Asperger syndrome (now part of DSM-5 autism spectrum disorder). Considered the definitive reference since its initial publication, the book focuses on how to assess each child or adolescent\'s needs and provide effective interventions in the areas of communication, behavior, and academic and vocational functioning. The neural and genetic bases of autism spectrum disorders are also explored. New to This Edition*Expanded coverage of evidence-based assessment and treatment, including two chapters on behavioral interventions.*Addresses challenges in the transition to new diagnostic criteria for autism spectrum disorder in DSM-5.*Chapters on neuropsychological advances, the transition to higher education, and forensic issues.*Many new authors and extensively revised chapters. Now in its third edition, Counseling in Communication Disorders: A Wellness Perspective continues to be an essential and admired text for counseling related courses in graduate speech-language pathology and audiology programs. The counseling skills introduced in this book are based on the model of positive psychology, a rapidly growing branch of psychology that focuses on mental health and well-being and how to achieve and maintain these states. By incorporating the key elements of positive psychology into clinical practice, clinicians can more effectively help patients live productively and successfully with their communication disorders. The authors offer examples, exercises, and specific techniques for working with individuals and their families across the spectrum of communication disorders, from infancy through end-of-life needs. In addition, they also feature one-on-one activities and model workshop examples for use in teaching counseling strategies to groups or classes. New to the Third Edition: Expanded information on issues concerning cultural diversity, especially in regard to children and their families Expanded strategies for recognizing and growing strengths in family dynamics including early intervention. Extended considerations for counseling individuals and families when deterioration of abilities is expected. More in-depth information on the unique problems of persons with mild cognitive impairment, primary progressive aphasia, and chronic traumatic encephalopathy. Updates on findings and issues in Positive Psychology Information introducing clinicians and students to Posttraumatic Growth and its relevance to the field Updated counseling literature throughout With its updates and additions, Counseling in Communication Disorders: A Wellness Perspective, Third Edition, is destined to remain a popular resource and teaching tool for developing speech- language pathologists and audiologists. CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. 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-- Based on standards mandated by ASHA, the second edition of this popular text is the thorough introduction to clinical practice that every SLP needs. A mix of working clinicians and academics combine research and practice to give readers a comprehensive guide to the entire clinical experience—one they’ll use both inside and outside the classroom. Completely revised throughout, this new edition covers a broad range of disorders and developmental levels and includes the latest onimplementing clinical approaches in a variety of settingsconducting the most effective assessment using the best instruments availableplanning and implementing interventionscollecting communication samplesapplying principles of counseling to communicative disorders practicewriting skillful clinical reports, referral letters, IEPs, and IFSPsincluding families in all aspects of assessment and interventionIdeal for students in upper-level courses or in-service professionals seeking a reliable reference, this essential volume will prepare SLPs to provide the best possible services for people with communication disorders.Appropriate CoursesClinical Methods in Communication DisordersSpeech / Language InterventionSpeech Pathology Assessment / DiagnosisLanguage and Communication Disorders The genetic test to determine if a child has velo-cardio-facial-syndrome (VCFS) has only been available since 1994. This text effectively examines the practical and educational strategies to better meet the needs of children with VCFS and other developmental disabilities. Based on standards mandated by ASHA, the second edition of this popular text is the thorough introduction to clinical practice that every SLP needs. A mix of working clinicians and academics combine research and practice to give readers a comprehensive guide to the entire clinical experience—one they’ll use both inside and outside the classroom. Completely revised throughout, this new edition covers a broad range of disorders and developmental levels and includes the latest onimplementing clinical approaches in a variety of settingsconducting the most effective assessment using the best instruments availableplanning and implementing interventionscollecting communication samplesapplying principles of counseling to communicative disorders practicewriting skillful clinical reports, referral letters, IEPs, and IFSPsincluding families in all aspects of assessment and interventionIdeal for students in upper-level courses or in-service professionals seeking a reliable reference, this essential volume will prepare SLPs to provide the best possible services for people with communication disorders.Appropriate CoursesClinical Methods in Communication DisordersSpeech / Language InterventionSpeech Pathology Assessment / DiagnosisLanguage and Communication Disorders This introductory text on communicative disorders offers students a comprehensive look at language and speech issues that is engaging, easy to understand, and filled with student learning aids. KEY TOPICS: This text, appropriate for both majors and non-majors, covers the basics of communication science, normal language and speech development, and the full spectrum of communication disorders. MARKET: Written for students taking introductory courses in communication sciences and disorders. CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. 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--