ISBN-10:
0122806050
ISBN-13:
9780122806056
Pub. Date:
04/28/2001
Publisher:
Elsevier Science
Handbook of Genetic Communicative Disorders / Edition 1

Handbook of Genetic Communicative Disorders / Edition 1

by Sanford E. Gerber

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Overview

Handbook of Genetic Communicative Disorders / Edition 1

Handbook of Genetic Communicative Disorders is the only book to consider the genetics of communicative disorders from a broad perspective. It examines genetics, embryology, and epidemiology, along with the study of hearing, speech, and language disorders. It also introduces a review of issues relevant to genetic counseling and ethics. It is a unique and comprehensive work edited by a master clinician and filled with articles written by contributors who are the leading experts in their respective disciplines.


About the Editor
Dr. Sanford E. Gerber is an adjunct professor of speech and hearing sciences at Washington State University, Pullman. He is also an emeritus professor of speech and hearing sciences at the University of California, Santa Barbara and a former visiting professor in the department of communication disorders at Eastern Washington University, Cheney. Dr. Gerber has received a variety of awards over the years, most notably, a diploma "honoris causa" from the Bohemian Medical Association J.E. Purkyne, and he is a correspondiente extranjero of the Mexican Society of Audiology and Phoniatrics. Dr. Gerber is the author or editor of 13 books and more than 150 journal articles, most of them dealing with communication in the very youngest people. He has lectured in numerous countries, among them The Netherlands, England, Mexico, Costa Rica, Argentina, and Ecuador.

Product Details

ISBN-13: 9780122806056
Publisher: Elsevier Science
Publication date: 04/28/2001
Pages: 270
Product dimensions: 6.28(w) x 9.32(h) x 0.72(d)

Table of Contents

Forewordxiii
Contributorsxv
Prefacexvii
1Introduction
I.Some Background1
II.What Is the Problem?3
III.Some Language5
IV.Some Information8
2Delineation of Genetic Components of Communicative Disorders
I.Historical Aspects12
A.Common Environmental Exposures13
B.Common in-utero Exposures13
C.Common Cultural Experiences13
D.Stochastic Variation14
II.Genetic Inheritance Patterns14
A.Mendelian Inheritance15
B.Non-Mendelian Inheritance15
C.Penetrance and Expressivity17
D.Chromosomal Inheritance17
E.Multifactorial Inheritance18
III.Identification of Genetic Components19
A.Twin Study19
B.Family Study20
C.Segregation Analysis20
IV.Identification of Loci and Genes21
A.Protein Approaches21
B.Candidate Gene Approaches21
C.Positional Approaches22
D.Association Studies24
E.Animal Models25
F.Verification of Findings25
V.Medical Significance26
A.Diagnostics26
B.Genetic Counseling26
C.Prognostics26
D.Therapeutics27
3Prenatal and Postnatal Craniofacial Development
I.Phylogenetic Aspects and Embryology31
A.Plan of the Human Face33
B.Formation of the Craniofacial Complex36
C.Divisions of the Human Face38
D.Development of Craniofacial Arteries, Muscles, and Nerves41
E.Molecular Control of Craniofacial Development45
F.Conclusion46
II.Postnatal Craniofacial Growth and Development47
A.Growth Concepts49
B.Cranium55
C.Mandible59
III.Functions of the Human Craniofacial Complex63
A.Eye63
B.Ear63
C.Nose63
D.Mouth63
4Morphogenesis and Genetics of Inner Ear Development and Malformation
I.Introduction70
II.Morphogenesis of the Inner Ear80
A.Membranous Labyrinth70
B.Bony Labyrinth (Otic Capsule)76
III.Genetic Patterning of Inner Ear Development77
A.Regional Specification: Patterning of Cochlea Versus Vestibule77
B.Patterning of Tissue and Cell Fate Specification80
5Genetic Deafness
I.Introduction89
History of the Genetics of Hearing Impairment90
II.Nosology91
A.Anatomical91
B.Phenotype92
C.Mode of Inheritance92
D.Molecular Aberrations: Changes in Nuclear DNA and Mitochondrial DNA (mtDNA)93
III.Syndromic Hearing Impairment93
A.Alport Syndrome94
B.Branchio-Oto-Renal (BOR) Syndrome94
C.Jervell and Lange-Nielsen Syndrome95
D.Mitochondrial Syndromes95
E.Norrie Disease95
F.Pendred Syndrome95
G.Stickler Syndrome96
H.Treacher Collins-Franceschetti Syndrome96
I.Usher Syndrome97
J.Waardenburg Syndrome97
K.Nonsyndromic Hearing Impairment99
L.Clinical Application103
M.Management107
6Genetic Language Disorders
I.Specific Language Impairment114
A.Epidemiology114
B.Family Studies115
C.Twin Studies116
D.Mode of Transmission117
E.Molecular Genetic Studies117
II.The Genetics of Specific Reading Disability118
A.Family Studies119
B.Twin Studies119
C.Mode of Transmission121
D.Molecular Genetics121
III.Conclusions123
7Genetics in Craniofacial Disorders and Clefting: Then and Now
I.The Genetics of Clefting: Its Evolution over the Past 30 Years130
II.How Might Mutant Genes Cause Cleft Lip, Cleft Palate, and Craniofacial Anomalies?133
III.Syndromes of Clefting134
IV.Sequences and Associations138
V.When to Be Suspicious139
VI.The Predictive Power of Understanding Causation141
VII.Integration of Genetics into the Interdisciplinary Team142
VIII.Syndromes Commonly Seen in Cleft Palate Centers143
IX.Does It Really Make a Difference?145
X.Has There Been an Effect on Research?148
XI.Conclusion148
8Stuttering and Genetics: Our Past and Our Future
I.Introduction152
II.Stuttering and Genetics: An Abridged Historical Timeline152
A.1930 to 1950152
B.1950 to 1970155
C.1970 to 1990157
D.1990 and Beyond160
III.Gene Finding: The "Today" and "Tomorrow" of Stuttering Research162
A.Genetic Linkage Studies163
B.Gene-Finding and Candidate Evaluation164
C.Gene Identification165
D.Gene Evaluation165
E.Complex Diseases166
F.Candidate Gene Evaluation in Complex Diseases167
G.The NIH Stuttering Study167
IV.The Human Face of the Molecular Genetics Revolution168
Genetic Literacy and Lay Beliefs about Inheritance169
V.Concluding Remarks171
9Concepts in Behavioral Genetics and Their Application to Developmental and Learning Disorders
I.Introduction to the Basic Model of Human Behavioral Genetics178
A.Additive Main Effects of Genes and Environments on Disorders of Reading, Attention or Activity, and Autism179
B.Nonadditive Complexities in the Development of Disorders of Reading, Attention, or Activity, and Autism182
C.Environment Versus Genetics for Disorders of Reading, Attention, or Activity, and Autism185
D.The Basis of the Association Among Various Disorders, Including Those of Reading, Attention, or Activity, and Autism188
E.Disorders of Reading, Attention, or Activity, and Autism Versus Normal Variation in Related Skills189
II.Molecular Work and Human Behavioral Genetics190
III.Toward the Future192
10Genetic Privacy and Ethical, Legal, and Social Issues
I.Genetic Testing200
II.Genetic Discrimination201
A.Examples of Discrimination202
B.Protection from Discrimination203
III.Genetic Privacy204
A.Sources of Genetic Information and Concerns about Privacy205
B.Enhancing Genetic Privacy206
C.Importance of Informed Consent in Testing and Research Participation207
D.Risk of Physical Injury in Gene Therapy Studies208
IV.Conclusion209
11Treatment and Prevention
I.Introduction213
II.Treatment214
Gene Therapy215
III.Prevention218
A.Primary Prevention218
B.Secondary Prevention219
C.Tertiary Prevention220
Bibliography223
Author Index247
Subject Index261

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