PDF-(BOOK)-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:. GENETIC. ENVIRONMENTAL. BOTH. CONGENITAL. HEREDITARY. FAMILAL. MUTATIONS. PERMANENT change in DNA. GENE. MUTATION: (may, and often, result in a single base error). CHROMOSOME . MUTATION: (visible chromosome change)part of chromosome. Normal 0 false false false MicrosoftInternetExplorer4 A classic in the field, Articulation and Phonological Disorders: Speech Sound Disorders in Children, 7e, presents the most up-to-date perspectives on the nature, assessment, and treatment of speech sound disorders. A must-have reference, this classic book delivers exceptional coverage of clinical literature and focuses on speech disorders of unknown causes. Offering a range of perspectives, it covers the normal aspects of speech sound articulation, normal speech sound acquisition, the classification of and factors related to the presence of phonological disorders, the assessment and remediation of speech sound disorders, and phonology as it relates to language and dialectal variations. This edition features twelve manageable chapters, including a new chapter on the classification of speech sound disorders, an expanded discussion of childhood apraxia of speech, additional coverage of evidence-based practices, and a look at both motor-based and linguistically-based treatment approaches. 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-- This carefully organized, engaging, comprehensive, and contemporary guide to analyzing research articles has become a classic in the field. With its primary focus on reading, understanding, and evaluating professional literature, and its emphasis on the different research designs and types of publications that can inform all components of evidence-based practice, Evaluating Research in Communication Disorders, 7/e gives readers a logical, highly useful organization that reduces redundancy and improves efficiency focused study questions that help develop critical evaluation skills and guide student projects that involve the evaluation of research literature and up-to-date references, current research, and new topics keep readers aware of the most contemporary findings in the field. 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-- CHARGE syndrome is thought to be caused by a mutation in the gene CHD7on chromosome #8. It occurs in 1 out of every 10,000 births and is affects males and females at equal rates and has been diagn TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS. Congenital. Allele. Gene locus. Gene mutation. Genotype. Phenotype. Homozygous. Heterozygous. Polymorphism. Gene penetrance. Gene expression. CAUSES OF BIRTH DEFECTS.