Understanding autism: from basic neuroscience to treatment
Integrating basic and clinical neuroscience perspectives, this book presents a comprehensive perspective on state-of-the-art research in epidemiology, genetics, and clinical neuroscience and neural systems implicated in autism. This book seeks to stimulate new directions for autism research on etiol...
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Boca Raton [u.a.]
CRC
2006
|
| Subjects: | |
| Online Access: | Table of contents only Publisher description Inhaltsverzeichnis |
| Summary: | Integrating basic and clinical neuroscience perspectives, this book presents a comprehensive perspective on state-of-the-art research in epidemiology, genetics, and clinical neuroscience and neural systems implicated in autism. This book seeks to stimulate new directions for autism research on etiology, pathophysiology, and the development of new drug treatment. An underlying theme focuses on the potential for future research given the availability of the human, mouse, and other genomes. The text also explores the role of autism in society, including health economics and advocacy issues of interest to legislators. |
| Item Description: | Integrating basic and clinical neuroscience perspectives, this book presents a comprehensive perspective on state-of-the-art research in epidemiology, genetics, and clinical neuroscience and neural systems implicated in autism. This book seeks to stimulate new directions for autism research on etiology, pathophysiology, and the development of new drug treatment. An underlying theme focuses on the potential for future research given the availability of the human, mouse, and other genomes. The text also explores the role of autism in society, including health economics and advocacy issues of interest to legislators. Includes bibliographical references and index |
| Physical Description: | 526 S. Ill., graph. Darst. 25 cm |
| ISBN: | 0849327326 |
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| 245 | 1 | 0 | |a Understanding autism |b from basic neuroscience to treatment |c ed. by Steven O. Moldin |
| 264 | 1 | |a Boca Raton [u.a.] |b CRC |c 2006 | |
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| 500 | |a Integrating basic and clinical neuroscience perspectives, this book presents a comprehensive perspective on state-of-the-art research in epidemiology, genetics, and clinical neuroscience and neural systems implicated in autism. This book seeks to stimulate new directions for autism research on etiology, pathophysiology, and the development of new drug treatment. An underlying theme focuses on the potential for future research given the availability of the human, mouse, and other genomes. The text also explores the role of autism in society, including health economics and advocacy issues of interest to legislators. | ||
| 500 | |a Includes bibliographical references and index | ||
| 520 | 3 | |a Integrating basic and clinical neuroscience perspectives, this book presents a comprehensive perspective on state-of-the-art research in epidemiology, genetics, and clinical neuroscience and neural systems implicated in autism. This book seeks to stimulate new directions for autism research on etiology, pathophysiology, and the development of new drug treatment. An underlying theme focuses on the potential for future research given the availability of the human, mouse, and other genomes. The text also explores the role of autism in society, including health economics and advocacy issues of interest to legislators. | |
| 650 | 4 | |a Autisme | |
| 650 | 7 | |a Autisme |2 gtt | |
| 650 | 7 | |a Behandeling |2 gtt | |
| 650 | 7 | |a Diagnostiek |2 gtt | |
| 650 | 4 | |a Autism | |
| 650 | 4 | |a Autistic Disorder |x diagnosis | |
| 650 | 4 | |a Autistic Disorder |x genetics | |
| 650 | 4 | |a Autistic Disorder |x therapy | |
| 700 | 1 | |a Moldin, Steven O. |e Sonstige |4 oth | |
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Record in the Search Index
| _version_ | 1804137314922790913 |
|---|---|
| adam_text | Contents
Chapter 1
Autism Spectrum Disorders: Phenotype and Diagnosis 1
Catherine Lord and Sarah J. Spence
Chapter 2
Past and Future Perspectives on Autism Epidemiology 25
Eric Fombonne
Chapter 3
Genetic Basis of Autism 49
Elena Bonora, Janine A. Lamb, Gabrielle Barnby,
Anthony J. Bailey, and Anthony P. Monaco
Chapter 4
Finding Genes in Spite of Heterogeneity: Endophenotypes, QTL
Mapping, and Expression Profiling in Autism 75
Daniel H. Geschwind and Maricela Alarcon
Chapter 5
A Mixed Epigenetic and Genetic and Mixed De Novo
and Inherited Model for Autism 95
Arthur L. Beaudet and Huda Y. Zoghbi
Chapter 6
Neurobiology of Related Disorders: Fragile X Syndrome 113
Usha Narayanan and Stephen T. Warren
Chapter 7
Fear and Anxiety Pathways 133
Kevin S. LaBar and Joseph E. LeDoux
Chapter 8
Cerebellar Networks and Autism: An Anatomical Hypothesis 155
Richard P. Bum and Peter L. Strick
Chapter 9
Language in Autism 175
Matthew Walenski, Helen Tager-Flusberg, and Michael T. Ullman
Chapter 10
Prefrontal Cortex 205
Joseph L. Price
Chapter 11
The Social Brain, Amygdala, and Autism 227
Cynthia M. Schumann, Melissa D. Bauman, Christopher J. Machado,
and David G. Amaral
Chapter 12
The Thalamus and Neuromodulatory Systems 255
Mircea Steriade
Chapter 13
Modeling Features of Autism in Animals 277
Paul H. Patterson
Chapter 14
Neuroanatomical and Neurochemical Studies of the Autistic
Brain: Current Thought and Future Directions 303
Margaret L. Bauman, George Anderson, Elaine Perry, and Melissa Ray
Chapter 15
The Social Brain in Autism: Perspectives from Neuropsychology
and Neuroimaging 323
Robert T. Schultz, Katarzyna Chawarska, and Fred R. Volkmar
Chapter 16
Structural Neuroimaging 349
Ruth A. Carper, Graham M. Wideman, and Eric Courchesne
Chapter 17
Neuropsychology and Neurophysiology of Autism
Spectrum Disorders 379
Nancy J. Minshew, Sara J. Webb, Diane L. Williams,
and Geraldine Dawson
Chapter 18
Pharmacological Treatments 417
Christopher J. McDougle, David J. Posey, and Kimberly A. Stigler
Chapter 19
Behavioral, Educational, and Developmental Treatments for Autism 443
Sally J. Rogers and Sally Ozonoff
Chapter 20
The Costs of Autism 475
Michael L. Ganz
Index 503
1 Autism Spectrum
Disorders: Phenotype
and Diagnosis
Catherine Lord and Sarah Spence
CONTENTS
The Spectrum of Autistic Disorders 1
The Phenotype 3
Core Features 3
Social and Communication Deficits in ASD 3
Repetitive and Restricted Behaviors and Interests 4
Sex Differences 5
Other Associated Features 5
ASD and Cognitive Impairments 5
Relationship to Sensory and Motor Impairments 6
Relationship to Epilepsy 7
Macrocephaly in ASD 7
Comorbid Psychiatric Diagnoses 8
Developmental Trajectories 9
Prognoses for ASD 10
Relationship to Disorders with Known Etiology 11
Neurogenetic Syndromes 11
Diagnosis and Assessment 12
Standardized Diagnoses 13
Summary and Conclusions 14
Acknowledgments 15
References 15
O Past and Future
Perspectives on
Autism Epidemiology
Eric Fombonne
CONTENTS
Introduction 26
Selection of Studies 26
Survey Descriptions 26
Study Designs 31
Characteristics of Autistic Samples 31
Prevalence Estimations 32
Autistic Disorder 32
Unspecified PDDs — PDDNOS (Pervasive Development
Disorder Not Otherwise Specified) 32
Asperger Syndrome (AS) and Childhood Disintegrative
Disorder (CDD) 33
Prevalence for Combined PDDs 36
Time Trends 36
Referral Statistics 38
Comparison of Cross-Sectional Epidemiological Surveys 39
Repeat Surveys in Defined Geographical Areas 40
Successive Birth Cohorts 41
Incidence Studies 42
Conclusion on Time Trends 42
Correlates of Autism 42
Associated Medical Conditions 42
Autism, Race, and Immigrant Status 42
Autism and Social Class 43
Cluster Reports 43
Conclusion 44
References 45
25
Q Genetic Basis of Autism
Elena Bonora, Janine A. Lamb, Gabrielle Barnby,
Anthony J. Bailey and Anthony P. Monaco
CONTENTS
Autism: General Characteristics 49
Evidence for Autism as a Genetic Disorder 50
Genetic Models for Autism Susceptibility 51
Chromosomal Abnormalities in Autism 52
Identification of Autism Susceptibility Genes 53
Linkage Analysis in Autism 54
Candidate Gene Studies for Autism 57
Candidate Genes on Chromosome 7 58
Candidate Genes on Chromosome 15 60
Functional Candidate Genes: A Role for Other
Neurotransmitters in Autism 60
Studies of Other Candidate Genes 61
Large-Scale Association Studies in Autism 61
The Use of DNA Array Technology in Autism 62
Considerations for Complex Disease Gene Mapping 62
Conclusions and Future Perspectives 65
Acknowledgments 66
Electronic Resources 66
References 67
A Finding Genes in Spite
of Heterogeneity:
Endophenotypes, QTL
Mapping, and Expression
Profiling in Autism
Daniel H. Geschwind and Maricela Alarcon
CONTENTS
Introduction 76
Making Sense of Complexity: The Need to Link Brain,
Genes, and Behavior 76
Autism: A Complex and Genetically Heterogeneous Trait 77
Current Status of Autism Linkage 77
Approach #1 — Endophenotypes in Mental Disorders 78
Endophenotypes also Inform the Use of Animal Models 78
Linkage in Large Families 79
Extending Endophenotype Analysis to Autism: Preliminary Success
or Signs of Trouble? 80
Language 81
Social Behavior and Cognition 81
RRBs 83
Modeling Other Endophenotypes and the Autism Continuum:
Structural Equation Modeling 83
The Next Step — Structural Equation Modeling (SEM) 84
Phenotypic Models 85
Genetic Models 86
Approach #2 — Microarray and Bioinformatic Analysis of Gene Expression:
Untested but not Unworthy 87
References 89
C A Mixed Epigenetic and
Genetic and Mixed De
Novo and Inherited Model
for Autism
Arthur L. Beaudet and Huda Y. Zoghbi
CONTENTS
Possibility of Epigenetic and de novo Factors in Autism 95
Epigenetics and Disease 96
Genomic Imprinting and Disease 97
Genetics vs. Epigenetics in Autism 98
Relevance of Fragile X Syndrome, Rett Syndrome,
and Chromosome 15ql l-ql3 100
Rett Syndrome and Autism 101
Chromosome 15ql l-ql3 and Autism 102
Possible Role of Genes on the X or Y Chromosomes in Autism 105
References 107
C. Neurobiology of Related
Disorders: Fragile X
Syndrome
Usha Narayanan and Stephen T. Warren
CONTENTS
Introduction 113
The Gene Causing Fragile X: FMR1 114
Triplet Repeat Expansion in Fragile X 115
FMRP: The Protein Product of the Disease Gene in Fragile X Syndrome 116
FMRP and the Neuronal Phenotype in Fragile X Syndrome 117
Fragile X Therapeutics 120
Fragile X and Autism 121
Etiology of Autism 121
Finding the Disease-Causing Gene: Insight from Fragile X 122
References 123
V Fear and Anxiety Pathways
Kevin S. LaBar and Joseph E. LeDoux
CONTENTS
Introduction 133
The Functions of Fear and Anxiety 134
Fear Conditioning as a Model System for Studying Emotional
Learning and Memory 134
The Neural Circuitry for Fear Learning 136
Acquiring Fears to Danger Signals: Role of the Amygdala 136
Prefrontal-Amygdala Interactions during Fear Extinction 139
The Hippocampus and Fear of Environmental Contexts 141
Fear Conditioning in Humans 143
Psychophysiological Studies 143
Neuropsychological Investigations in Brain-Lesioned Patients 143
Functional Neuroimaging of Conditioned Fear Pathways 144
Fear Conditioning in Anxiety Disorders 145
Fear and Anxiety Pathways: Implications for Autism Research 147
Conclusions 147
References 148
Q Cerebellar Networks and
Autism: An Anatomical
Hypothesis
Richard P. Dum and Peter L. Strick
CONTENTS
Introduction 155
Cerebellar Structural Alterations in Autism 156
Circuit Dysfunction Hypotheses I5K
Cerebello-Limbic Circuit 158
Cerebello-Thalamo-Cortical Circuit 159
Macroarehitecture of Cerebro-Cerebellar Loops 163
What Is the Full Extent of the Cerebellar Influence
over the Cerebral Cortex? 166
Summary and Conclusions 167
References I6K
Q Language in Autism
Matthew Walenski, Helen Tager-Flusberg,
and Michael T. Ullman
CONTENTS
Introduction 175
Language and Communication in ASD: The Evidence 176
Pragmatic Deficits 176
Nonverbal Communicative Gesture 177
Speech Acts 177
Conversational Discourse 177
Pragmatic Functions of Prosody 178
Interpreting Nonliteral Language 178
Grammar and Lexicon 178
Grammatical Abilities 179
Lexical Abilities 181
Neuroimaging Studies 181
Formulaic Speech 183
Integrative Theories of Language in ASD 183
Pragmatics and Theory of Mind 183
Grammar, Lexicon, and the PDH 185
ASD Profile of Procedural System Functions 188
ASD Profile of the Declarative Memory System 191
The Neurobiology of Procedural and Declarative
Memory Brain Structures in ASD 193
Summary and Conclusion 193
Acknowledgments 194
References 194
*1Q Prefrontal Cortex
Joseph L. Price
CONTENTS
Introduction 205
Structure 206
Dorsolateral Prefrontal Cortex: Caudal, Dorsal, and Ventral 207
Ventromedial Prefrontal Cortex: Orbital and Medial 209
Connections 210
Intrinsic Connections 211
Sensory Inputs to Ventrolateral Prefrontal Region 213
Parietal Connections of Caudolateral Prefrontal Region 213
Nonsensory Associations of Dorsomedial and Medial
Prefrontal Regions 214
Motor and Visceromotor Outputs 215
Functions 215
Orbital Cortex: Food and Reward? 215
Ventrolateral Convexity: Object-Related Selection and Judgment,
Working Memory and Language? 216
Caudolateral Prefrontal Cortex: Visuo-Spatial and Auditory-Spatial
Coordination? 218
Dorsomedial Prefrontal Cortex: Monitoring of Self-Referential
Information? 218
Medial Prefrontal Network: Visceral Modulation, Emotion,
and Monitoring of Internal State? 219
References 221
*1 t The Social Brain,
Amygdala, and Autism
Cynthia M. Schumann, Melissa D. Bauman,
Christopher J. Machado, and David C. Amaral
CONTENTS
Introduction 228
Social Behavior: What and Where 228
Role of the Amygdala in Social Behavior 229
Electrophysiological Recording and Functional
Neuroimaging Studies 229
Lesion Studies with Nonhuman Primates 231
Current Theories regarding the Amygdala and Social Behavior 231
The Amygdala Assigns an Emotional Significance to
Social Stimuli 231
The Amygdala Detects Threat or Danger in the
Environment 232
Behavioral Changes Resulting from Damage
to the Amygdala in Adult Macaque Monkeys 232
Behavioral Changes Resulting from Damage
to the Amygdala in Neonatal Macaque Monkeys 233
Human Patients with Amygdala Lesions 236
Summary of Amygdala and Social Behavior 237
The Amygdala and Autism 237
Functional MRI Studies of the Amygdala in Autism 237
Structural MRI Studies of the Amygdala in Autism 238
Postmortem Studies of the Amygdala in Autism 240
Amygdala Dysfunction May Contribute
to Symptoms of Autism 243
Abnormal Amygdala Function May Impact
Social Processing 244
Conclusions 245
References 246
227
1 2 The Thalamus and
Neuromodulatory Systems
Mircea Steriade
CONTENTS
Autism and the Thalamus 255
Intrathalamic and Corticothalamic Neuronal Circuitry 256
Thalamic Projections of Brain Stem and Forebrain
Neuromodulatory Systems 259
Thalamic Projections of Glutamatergic and Cholinergic
Brain Stem Reticular Neurons 259
Thalamic Projections of Brain Stem and Hypothalamic
Monoaminergic Systems 262
Basal Forebrain Projections to the Thalamus 262
Brain Stem-Thalamic Neurons during Tonic and
Phasic Activation Processes 263
Modulatory Actions on Thalamocortical and
Thalamic Inhibitory Neurons 269
References 272
1 ^ Modeling Features
of Autism in Animals
Paul H. Patterson
CONTENTS
Introduction 277
Genetic Manipulation 279
X Chromosome Loci 279
15q 11-ql 3 Locus 280
Oxytocin and Vasopressin 280
Serotonin 281
DLX 283
Engrailed 284
Acetylcholine Receptor 284
Dishevelled 285
|i-Opioid Receptor 285
Deer Mouse 285
Reelin 286
Environmental Manipulation 286
Thalidomide and Valproic Acid 286
Maternal Infection 288
Postnatal Viral Infection 290
Postnatal Vaccination 290
Lesion 291
Amygdala 291
Cerebellum 292
Perspectives 293
Acknowledgments 293
References 293
1 A Neuroanatomical and
Neurochemical Studies of
the Autistic Brain: Current
Thought and Future
Directions
Margaret L. Bauman, George Anderson,
Elaine Perry, and Melissa Ray
CONTENTS
Introduction 303
Neuroanatomical Observations 304
The Limbic System 305
The Cerebellum and Brain Stem 306
Neurotransmitter Systems 308
Norepinephrine 308
Dopamine 309
Serotonin 309
Acetylcholine 311
Summary and Future Directions 315
Acknowledgments 316
References 317
1 CT The Social Brain in Autism:
Perspectives from
Neuropsychology and
Neuroimaging
Robert T. Schultz, Katarzyna Chawarska,
and Fred R. Volkmar
CONTENTS
Introduction 323
Social Deficits as the Hallmark of Autism 324
Theoretical Understanding of Social Dysfunction in Autism 325
Developmental Aspects of Social Deficits in Autism 326
Joint Attention and Gaze Monitoring in Autism 327
Brain Mechanisms in Autism 328
Studies of Social Perception 329
Face Identity Perception 330
Neural Bases of Face Recognition 331
Facial Expression Perception 332
The Neural Basis of Facial Expression Perception 333
Studies of Social Cognition 334
Functional Neuroimaging Studies of Social Cognition 334
Social Motivation 335
Summary and Conclusions 337
Acknowledgments 337
References 33K
1 £ Structural Neuroimaging
Ruth A. Carper, Graham M. Wideman,
and Eric Courchesne
CONTENTS
Introduction 349
Review of Recent Structural Imaging Literature 350
Brain Size and Head Size in Autism 350
Cerebral Findings 352
Early Childhood 352
Late Childhood through Adulthood 354
Specific White Matter Findings 35X
Neuropathological Findings 35X
Cerebellum 359
Limbic System 360
Basal Ganglia 361
Mechanisms 361
Possible Abnormalities of Neuroproliferation 362
Possible Inflammatory Processes 364
Future Directions in Neuroimaging 365
Advances in MRI Scanner Hardware and Software 366
The Challenge of Automated Morphological Processing 367
VBM —A Controversial Quantitation Technique 367
Surface Reconstruction and Morphology 370
Diffusion-Weighted Imaging, Diffusion Tensor Imaging.
White Matter Orientation, and Tractography 371
Conclusion 372
References 373
j 7 Neuropsychology and
Neurophysiology of
Autism Spectrum
Disorders
Nancy J. Minshew, Sara J. Webb, Diane L.
Williams, and Geraldine Dawson
CONTENTS
Introduction 380
The Complex Information Processing Model 381
Further Articulation of What Complex Information Processing
Means 385
Neuroimaging Validation of the Cognitive Profile 387
Confirmation of Reduced Information Processing Capacity 387
Underconnectivity and Overconnectivity of Neocortical Systems 388
Another Aspect of the Information Processing Impairment:
Local-Global Processing 389
Interrelationships between Local-Global Processing,
Object Processing, and Face Processing 391
Extending the Local-Global Processing Account
to High-Level Tasks 391
Executive Function and Abstraction: The Nonsocial Impairments
in Autism 392
Abstract Reasoning 393
Deficits in Part-Whole Processing and in Abstraction:
A Basis for Restricted and Repetitive Behavior 394
Other Models for Autism: Social Cognition, a Core Diagnostic
Phenotype 395
Early Social Impairments 395
Face Processing: Early Emerging Impairments 396
Evidence for Early Impairment in Facial Emotion
Processing and Memory 398
379
380 Understanding Autism: From Basic Neuroscience to Treatment
Explanations for Face Processing Impairments 398
Theory of Mind (ToM) 400
Oculomotor and Postural Physiology: Beyond Neuropsychological Tests 402
Oculomotor Physiology 402
Postural Physiology 404
Conclusion 405
Concluding Remarks Regarding Social Deficits 406
Closing Comments 406
Perspectives for Future Research 407
Acknowledgments 407
References 408
1 Q Pharmacological
Treatments
Christopher J. McDougle, David J. Posey,
and Kimberly A. Stigler
CONTENTS
Introduction 417
Motor Hyperactivity and Inattention 418
Psychostimulants 418
Alpha2 Adrenergic Agonists 421
Interfering Stereotypical and Repetitive Behavior 422
Clomipramine 423
Fluvoxamine 424
Fluoxetine 425
Other SSRIs 425
Aggression and Self-Injurious Behavior 426
Haloperidol 426
Clozapine 428
Risperidone 428
Olanzapine 429
Quetiapine 430
Ziprasidone 431
Aripiprazole 431
Core Social Impairment 432
Drugs Affecting Glutamate Function 432
D-Cycloserine 433
Summary and Future Directions 434
Coactive Pharmacological Treatment Strategies 435
Acknowledgments 436
References 436
1 Q Behavioral, Educational,
and Developmental
Treatments for Autism
Sally J. Rogers and Sally Ozonoff
CONTENTS
Introduction 444
Language Interventions 444
Studies Using a Didactic Behavioral Approach 444
The Naturalistic Behavioral Language Interventions 446
Developmental Language Approaches 448
Social Interventions 450
Interventions with Younger or Less Verbal Children 450
Adult Use of Dyadic Engagement 450
Self-Management Techniques 451
Games with Objects 451
Pivotal Response Training 451
Peer-Mediated Interactions 451
Role-Playing Games 452
Peers as Tutors 452
Peers Using PRT 453
Integrated Playgroup 453
Interventions for Older and More Verbal Children 453
Social Skills Training 453
Special Interest Games 455
Repetitive and Restrictive Behavioral Repertoire 455
Comprehensive Intervention Approaches for Preschoolers 458
The Work of Ivar Lovaas and Colleagues 458
Developmental^ Oriented Treatments 460
New Approaches 462
Conclusions 463
Acknowledgments 464
References 464
]
OQ The Costs of Autism
Michael L. Ganz
CONTENTS
Introduction 476
Overview of Costs 477
Components of Cost 477
Direct Medical Costs 478
Direct Nonmedical Costs 478
Indirect Costs 478
Sources of Costs and Methods for Constructing Cost Estimates 478
Perspective 480
Methods 480
Review of the Literature and Calculation of Costs 482
Direct Medical Costs 482
Physician, Outpatient, and Clinic Services 482
Dental 483
Prescription Medications 483
Complementary and Alternative Therapies 483
Behavioral Therapies 484
Hospital and Emergency Department Services 485
Allied Health, Equipment, Supplies, and Home Health 485
Medically Related Travel 486
Summary 486
Direct Nonmedical Costs 486
Child Care 486
Adult Care 487
Respite Care and Family Care 487
Home and Car Modifications 487
Special Education 487
Supported Employment 488
Other 489
Summary 490
Indirect Costs 490
Productivity Losses of People with Autism 490
Productivity Losses of Parents of People with Autism 490
Summary 491
|
| adam_txt |
Contents
Chapter 1
Autism Spectrum Disorders: Phenotype and Diagnosis 1
Catherine Lord and Sarah J. Spence
Chapter 2
Past and Future Perspectives on Autism Epidemiology 25
Eric Fombonne
Chapter 3
Genetic Basis of Autism 49
Elena Bonora, Janine A. Lamb, Gabrielle Barnby,
Anthony J. Bailey, and Anthony P. Monaco
Chapter 4
Finding Genes in Spite of Heterogeneity: Endophenotypes, QTL
Mapping, and Expression Profiling in Autism 75
Daniel H. Geschwind and Maricela Alarcon
Chapter 5
A Mixed Epigenetic and Genetic and Mixed De Novo
and Inherited Model for Autism 95
Arthur L. Beaudet and Huda Y. Zoghbi
Chapter 6
Neurobiology of Related Disorders: Fragile X Syndrome 113
Usha Narayanan and Stephen T. Warren
Chapter 7
Fear and Anxiety Pathways 133
Kevin S. LaBar and Joseph E. LeDoux
Chapter 8
Cerebellar Networks and Autism: An Anatomical Hypothesis 155
Richard P. Bum and Peter L. Strick
Chapter 9
Language in Autism 175
Matthew Walenski, Helen Tager-Flusberg, and Michael T. Ullman
Chapter 10
Prefrontal Cortex 205
Joseph L. Price
Chapter 11
The Social Brain, Amygdala, and Autism 227
Cynthia M. Schumann, Melissa D. Bauman, Christopher J. Machado,
and David G. Amaral
Chapter 12
The Thalamus and Neuromodulatory Systems 255
Mircea Steriade
Chapter 13
Modeling Features of Autism in Animals 277
Paul H. Patterson
Chapter 14
Neuroanatomical and Neurochemical Studies of the Autistic
Brain: Current Thought and Future Directions 303
Margaret L. Bauman, George Anderson, Elaine Perry, and Melissa Ray
Chapter 15
The Social Brain in Autism: Perspectives from Neuropsychology
and Neuroimaging 323
Robert T. Schultz, Katarzyna Chawarska, and Fred R. Volkmar
Chapter 16
Structural Neuroimaging 349
Ruth A. Carper, Graham M. Wideman, and Eric Courchesne
Chapter 17
Neuropsychology and Neurophysiology of Autism
Spectrum Disorders 379
Nancy J. Minshew, Sara J. Webb, Diane L. Williams,
and Geraldine Dawson
Chapter 18
Pharmacological Treatments 417
Christopher J. McDougle, David J. Posey, and Kimberly A. Stigler
Chapter 19
Behavioral, Educational, and Developmental Treatments for Autism 443
Sally J. Rogers and Sally Ozonoff
Chapter 20
The Costs of Autism 475
Michael L. Ganz
Index 503
1 Autism Spectrum
Disorders: Phenotype
and Diagnosis
Catherine Lord and Sarah Spence
CONTENTS
The Spectrum of Autistic Disorders 1
The Phenotype 3
Core Features 3
Social and Communication Deficits in ASD 3
Repetitive and Restricted Behaviors and Interests 4
Sex Differences 5
Other Associated Features 5
ASD and Cognitive Impairments 5
Relationship to Sensory and Motor Impairments 6
Relationship to Epilepsy 7
Macrocephaly in ASD 7
Comorbid Psychiatric Diagnoses 8
Developmental Trajectories 9
Prognoses for ASD 10
Relationship to Disorders with Known Etiology 11
Neurogenetic Syndromes 11
Diagnosis and Assessment 12
Standardized Diagnoses 13
Summary and Conclusions 14
Acknowledgments 15
References 15
O Past and Future
Perspectives on
Autism Epidemiology
Eric Fombonne
CONTENTS
Introduction 26
Selection of Studies 26
Survey Descriptions 26
Study Designs 31
Characteristics of Autistic Samples 31
Prevalence Estimations 32
Autistic Disorder 32
Unspecified PDDs — PDDNOS (Pervasive Development
Disorder Not Otherwise Specified) 32
Asperger Syndrome (AS) and Childhood Disintegrative
Disorder (CDD) 33
Prevalence for Combined PDDs 36
Time Trends 36
Referral Statistics 38
Comparison of Cross-Sectional Epidemiological Surveys 39
Repeat Surveys in Defined Geographical Areas 40
Successive Birth Cohorts 41
Incidence Studies 42
Conclusion on Time Trends 42
Correlates of Autism 42
Associated Medical Conditions 42
Autism, Race, and Immigrant Status 42
Autism and Social Class 43
Cluster Reports 43
Conclusion 44
References 45
25
Q Genetic Basis of Autism
Elena Bonora, Janine A. Lamb, Gabrielle Barnby,
Anthony J. Bailey and Anthony P. Monaco
CONTENTS
Autism: General Characteristics 49
Evidence for Autism as a Genetic Disorder 50
Genetic Models for Autism Susceptibility 51
Chromosomal Abnormalities in Autism 52
Identification of Autism Susceptibility Genes 53
Linkage Analysis in Autism 54
Candidate Gene Studies for Autism 57
Candidate Genes on Chromosome 7 58
Candidate Genes on Chromosome 15 60
Functional Candidate Genes: A Role for Other
Neurotransmitters in Autism 60
Studies of Other Candidate Genes 61
Large-Scale Association Studies in Autism 61
The Use of DNA Array Technology in Autism 62
Considerations for Complex Disease Gene Mapping 62
Conclusions and Future Perspectives 65
Acknowledgments 66
Electronic Resources 66
References 67
A Finding Genes in Spite
of Heterogeneity:
Endophenotypes, QTL
Mapping, and Expression
Profiling in Autism
Daniel H. Geschwind and Maricela Alarcon
CONTENTS
Introduction 76
Making Sense of Complexity: The Need to Link Brain,
Genes, and Behavior 76
Autism: A Complex and Genetically Heterogeneous Trait 77
Current Status of Autism Linkage 77
Approach #1 — Endophenotypes in Mental Disorders 78
Endophenotypes also Inform the Use of Animal Models 78
Linkage in Large Families 79
Extending Endophenotype Analysis to Autism: Preliminary Success
or Signs of Trouble? 80
Language 81
Social Behavior and Cognition 81
RRBs 83
Modeling Other Endophenotypes and the Autism Continuum:
Structural Equation Modeling 83
The Next Step — Structural Equation Modeling (SEM) 84
Phenotypic Models 85
Genetic Models 86
Approach #2 — Microarray and Bioinformatic Analysis of Gene Expression:
Untested but not Unworthy 87
References 89
C A Mixed Epigenetic and
Genetic and Mixed De
Novo and Inherited Model
for Autism
Arthur L. Beaudet and Huda Y. Zoghbi
CONTENTS
Possibility of Epigenetic and de novo Factors in Autism 95
Epigenetics and Disease 96
Genomic Imprinting and Disease 97
Genetics vs. Epigenetics in Autism 98
Relevance of Fragile X Syndrome, Rett Syndrome,
and Chromosome 15ql l-ql3 100
Rett Syndrome and Autism 101
Chromosome 15ql l-ql3 and Autism 102
Possible Role of Genes on the X or Y Chromosomes in Autism 105
References 107
C. Neurobiology of Related
Disorders: Fragile X
Syndrome
Usha Narayanan and Stephen T. Warren
CONTENTS
Introduction 113
The Gene Causing Fragile X: FMR1 114
Triplet Repeat Expansion in Fragile X 115
FMRP: The Protein Product of the Disease Gene in Fragile X Syndrome 116
FMRP and the Neuronal Phenotype in Fragile X Syndrome 117
Fragile X Therapeutics 120
Fragile X and Autism 121
Etiology of Autism 121
Finding the Disease-Causing Gene: Insight from Fragile X 122
References 123
V Fear and Anxiety Pathways
Kevin S. LaBar and Joseph E. LeDoux
CONTENTS
Introduction 133
The Functions of Fear and Anxiety 134
Fear Conditioning as a Model System for Studying Emotional
Learning and Memory 134
The Neural Circuitry for Fear Learning 136
Acquiring Fears to Danger Signals: Role of the Amygdala 136
Prefrontal-Amygdala Interactions during Fear Extinction 139
The Hippocampus and Fear of Environmental Contexts 141
Fear Conditioning in Humans 143
Psychophysiological Studies 143
Neuropsychological Investigations in Brain-Lesioned Patients 143
Functional Neuroimaging of Conditioned Fear Pathways 144
Fear Conditioning in Anxiety Disorders 145
Fear and Anxiety Pathways: Implications for Autism Research 147
Conclusions 147
References 148
Q Cerebellar Networks and
Autism: An Anatomical
Hypothesis
Richard P. Dum and Peter L. Strick
CONTENTS
Introduction 155
Cerebellar Structural Alterations in Autism 156
Circuit Dysfunction Hypotheses I5K
Cerebello-Limbic Circuit 158
Cerebello-Thalamo-Cortical Circuit 159
Macroarehitecture of Cerebro-Cerebellar Loops 163
What Is the Full Extent of the Cerebellar Influence
over the Cerebral Cortex? 166
Summary and Conclusions 167
References I6K
Q Language in Autism
Matthew Walenski, Helen Tager-Flusberg,
and Michael T. Ullman
CONTENTS
Introduction 175
Language and Communication in ASD: The Evidence 176
Pragmatic Deficits 176
Nonverbal Communicative Gesture 177
Speech Acts 177
Conversational Discourse 177
Pragmatic Functions of Prosody 178
Interpreting Nonliteral Language 178
Grammar and Lexicon 178
Grammatical Abilities 179
Lexical Abilities 181
Neuroimaging Studies 181
Formulaic Speech 183
Integrative Theories of Language in ASD 183
Pragmatics and Theory of Mind 183
Grammar, Lexicon, and the PDH 185
ASD Profile of Procedural System Functions 188
ASD Profile of the Declarative Memory System 191
The Neurobiology of Procedural and Declarative
Memory Brain Structures in ASD 193
Summary and Conclusion 193
Acknowledgments 194
References 194
*1Q Prefrontal Cortex
Joseph L. Price
CONTENTS
Introduction 205
Structure 206
Dorsolateral Prefrontal Cortex: Caudal, Dorsal, and Ventral 207
Ventromedial Prefrontal Cortex: Orbital and Medial 209
Connections 210
Intrinsic Connections 211
Sensory Inputs to Ventrolateral Prefrontal Region 213
Parietal Connections of Caudolateral Prefrontal Region 213
Nonsensory Associations of Dorsomedial and Medial
Prefrontal Regions 214
Motor and Visceromotor Outputs 215
Functions 215
Orbital Cortex: Food and Reward? 215
Ventrolateral Convexity: Object-Related Selection and Judgment,
Working Memory and Language? 216
Caudolateral Prefrontal Cortex: Visuo-Spatial and Auditory-Spatial
Coordination? 218
Dorsomedial Prefrontal Cortex: Monitoring of Self-Referential
Information? 218
Medial Prefrontal Network: Visceral Modulation, Emotion,
and Monitoring of Internal State? 219
References 221
*1 "t The Social Brain,
Amygdala, and Autism
Cynthia M. Schumann, Melissa D. Bauman,
Christopher J. Machado, and David C. Amaral
CONTENTS
Introduction 228
Social Behavior: What and Where 228
Role of the Amygdala in Social Behavior 229
Electrophysiological Recording and Functional
Neuroimaging Studies 229
Lesion Studies with Nonhuman Primates 231
Current Theories regarding the Amygdala and Social Behavior 231
The Amygdala Assigns an Emotional Significance to
Social Stimuli 231
The Amygdala Detects Threat or Danger in the
Environment 232
Behavioral Changes Resulting from Damage
to the Amygdala in Adult Macaque Monkeys 232
Behavioral Changes Resulting from Damage
to the Amygdala in Neonatal Macaque Monkeys 233
Human Patients with Amygdala Lesions 236
Summary of Amygdala and Social Behavior 237
The Amygdala and Autism 237
Functional MRI Studies of the Amygdala in Autism 237
Structural MRI Studies of the Amygdala in Autism 238
Postmortem Studies of the Amygdala in Autism 240
Amygdala Dysfunction May Contribute
to Symptoms of Autism 243
Abnormal Amygdala Function May Impact
Social Processing 244
Conclusions 245
References 246
227
1 2 The Thalamus and
Neuromodulatory Systems
Mircea Steriade
CONTENTS
Autism and the Thalamus 255
Intrathalamic and Corticothalamic Neuronal Circuitry 256
Thalamic Projections of Brain Stem and Forebrain
Neuromodulatory Systems 259
Thalamic Projections of Glutamatergic and Cholinergic
Brain Stem Reticular Neurons 259
Thalamic Projections of Brain Stem and Hypothalamic
Monoaminergic Systems 262
Basal Forebrain Projections to the Thalamus 262
Brain Stem-Thalamic Neurons during Tonic and
Phasic Activation Processes 263
Modulatory Actions on Thalamocortical and
Thalamic Inhibitory Neurons 269
References 272
1 ^ Modeling Features
of Autism in Animals
Paul H. Patterson
CONTENTS
Introduction 277
Genetic Manipulation 279
X Chromosome Loci 279
15q 11-ql 3 Locus 280
Oxytocin and Vasopressin 280
Serotonin 281
DLX 283
Engrailed 284
Acetylcholine Receptor 284
Dishevelled 285
|i-Opioid Receptor 285
Deer Mouse 285
Reelin 286
Environmental Manipulation 286
Thalidomide and Valproic Acid 286
Maternal Infection 288
Postnatal Viral Infection 290
Postnatal Vaccination 290
Lesion 291
Amygdala 291
Cerebellum 292
Perspectives 293
Acknowledgments 293
References 293
1 A Neuroanatomical and
Neurochemical Studies of
the Autistic Brain: Current
Thought and Future
Directions
Margaret L. Bauman, George Anderson,
Elaine Perry, and Melissa Ray
CONTENTS
Introduction 303
Neuroanatomical Observations 304
The Limbic System 305
The Cerebellum and Brain Stem 306
Neurotransmitter Systems 308
Norepinephrine 308
Dopamine 309
Serotonin 309
Acetylcholine 311
Summary and Future Directions 315
Acknowledgments 316
References 317
1 CT The Social Brain in Autism:
Perspectives from
Neuropsychology and
Neuroimaging
Robert T. Schultz, Katarzyna Chawarska,
and Fred R. Volkmar
CONTENTS
Introduction 323
Social Deficits as the Hallmark of Autism 324
Theoretical Understanding of Social Dysfunction in Autism 325
Developmental Aspects of Social Deficits in Autism 326
Joint Attention and Gaze Monitoring in Autism 327
Brain Mechanisms in Autism 328
Studies of Social Perception 329
Face Identity Perception 330
Neural Bases of Face Recognition 331
Facial Expression Perception 332
The Neural Basis of Facial Expression Perception 333
Studies of Social Cognition 334
Functional Neuroimaging Studies of Social Cognition 334
Social Motivation 335
Summary and Conclusions 337
Acknowledgments 337
References 33K
"1 £ Structural Neuroimaging
Ruth A. Carper, Graham M. Wideman,
and Eric Courchesne
CONTENTS
Introduction 349
Review of Recent Structural Imaging Literature 350
Brain Size and Head Size in Autism 350
Cerebral Findings 352
Early Childhood 352
Late Childhood through Adulthood 354
Specific White Matter Findings 35X
Neuropathological Findings 35X
Cerebellum 359
Limbic System 360
Basal Ganglia 361
Mechanisms 361
Possible Abnormalities of Neuroproliferation 362
Possible Inflammatory Processes 364
Future Directions in Neuroimaging 365
Advances in MRI Scanner Hardware and Software 366
The Challenge of Automated Morphological Processing 367
VBM —A Controversial Quantitation Technique 367
Surface Reconstruction and Morphology 370
Diffusion-Weighted Imaging, Diffusion Tensor Imaging.
White Matter Orientation, and Tractography 371
Conclusion 372
References 373
"j 7 Neuropsychology and
Neurophysiology of
Autism Spectrum
Disorders
Nancy J. Minshew, Sara J. Webb, Diane L.
Williams, and Geraldine Dawson
CONTENTS
Introduction 380
The Complex Information Processing Model 381
Further Articulation of What "Complex Information Processing"
Means 385
Neuroimaging Validation of the Cognitive Profile 387
Confirmation of Reduced Information Processing Capacity 387
Underconnectivity and Overconnectivity of Neocortical Systems 388
Another Aspect of the Information Processing Impairment:
Local-Global Processing 389
Interrelationships between Local-Global Processing,
Object Processing, and Face Processing 391
Extending the Local-Global Processing Account
to High-Level Tasks 391
Executive Function and Abstraction: The Nonsocial Impairments
in Autism 392
Abstract Reasoning 393
Deficits in Part-Whole Processing and in Abstraction:
A Basis for Restricted and Repetitive Behavior 394
Other Models for Autism: Social Cognition, a Core Diagnostic
Phenotype 395
Early Social Impairments 395
Face Processing: Early Emerging Impairments 396
Evidence for Early Impairment in Facial Emotion
Processing and Memory 398
379
380 Understanding Autism: From Basic Neuroscience to Treatment
Explanations for Face Processing Impairments 398
Theory of Mind (ToM) 400
Oculomotor and Postural Physiology: Beyond Neuropsychological Tests 402
Oculomotor Physiology 402
Postural Physiology 404
Conclusion 405
Concluding Remarks Regarding Social Deficits 406
Closing Comments 406
Perspectives for Future Research 407
Acknowledgments 407
References 408
1 Q Pharmacological
Treatments
Christopher J. McDougle, David J. Posey,
and Kimberly A. Stigler
CONTENTS
Introduction 417
Motor Hyperactivity and Inattention 418
Psychostimulants 418
Alpha2 Adrenergic Agonists 421
Interfering Stereotypical and Repetitive Behavior 422
Clomipramine 423
Fluvoxamine 424
Fluoxetine 425
Other SSRIs 425
Aggression and Self-Injurious Behavior 426
Haloperidol 426
Clozapine 428
Risperidone 428
Olanzapine 429
Quetiapine 430
Ziprasidone 431
Aripiprazole 431
Core Social Impairment 432
Drugs Affecting Glutamate Function 432
D-Cycloserine 433
Summary and Future Directions 434
Coactive Pharmacological Treatment Strategies 435
Acknowledgments 436
References 436
1 Q Behavioral, Educational,
and Developmental
Treatments for Autism
Sally J. Rogers and Sally Ozonoff
CONTENTS
Introduction 444
Language Interventions 444
Studies Using a Didactic Behavioral Approach 444
The Naturalistic Behavioral Language Interventions 446
Developmental Language Approaches 448
Social Interventions 450
Interventions with Younger or Less Verbal Children 450
Adult Use of Dyadic Engagement 450
Self-Management Techniques 451
Games with Objects 451
Pivotal Response Training 451
Peer-Mediated Interactions 451
Role-Playing Games 452
Peers as Tutors 452
Peers Using PRT 453
Integrated Playgroup 453
Interventions for Older and More Verbal Children 453
Social Skills Training 453
Special Interest Games 455
Repetitive and Restrictive Behavioral Repertoire 455
Comprehensive Intervention Approaches for Preschoolers 458
The Work of Ivar Lovaas and Colleagues 458
Developmental^ Oriented Treatments 460
New Approaches 462
Conclusions 463
Acknowledgments 464
References 464
]
OQ The Costs of Autism
Michael L. Ganz
CONTENTS
Introduction 476
Overview of Costs 477
Components of Cost 477
Direct Medical Costs 478
Direct Nonmedical Costs 478
Indirect Costs 478
Sources of Costs and Methods for Constructing Cost Estimates 478
Perspective 480
Methods 480
Review of the Literature and Calculation of Costs 482
Direct Medical Costs 482
Physician, Outpatient, and Clinic Services 482
Dental 483
Prescription Medications 483
Complementary and Alternative Therapies 483
Behavioral Therapies 484
Hospital and Emergency Department Services 485
Allied Health, Equipment, Supplies, and Home Health 485
Medically Related Travel 486
Summary 486
Direct Nonmedical Costs 486
Child Care 486
Adult Care 487
Respite Care and Family Care 487
Home and Car Modifications 487
Special Education 487
Supported Employment 488
Other 489
Summary 490
Indirect Costs 490
Productivity Losses of People with Autism 490
Productivity Losses of Parents of People with Autism 490
Summary 491 |
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| spelling | Understanding autism from basic neuroscience to treatment ed. by Steven O. Moldin Boca Raton [u.a.] CRC 2006 526 S. Ill., graph. Darst. 25 cm txt rdacontent n rdamedia nc rdacarrier Integrating basic and clinical neuroscience perspectives, this book presents a comprehensive perspective on state-of-the-art research in epidemiology, genetics, and clinical neuroscience and neural systems implicated in autism. This book seeks to stimulate new directions for autism research on etiology, pathophysiology, and the development of new drug treatment. An underlying theme focuses on the potential for future research given the availability of the human, mouse, and other genomes. The text also explores the role of autism in society, including health economics and advocacy issues of interest to legislators. Includes bibliographical references and index Autisme Autisme gtt Behandeling gtt Diagnostiek gtt Autism Autistic Disorder diagnosis Autistic Disorder genetics Autistic Disorder therapy Moldin, Steven O. Sonstige oth http://www.loc.gov/catdir/toc/fy0705/2005046674.html Table of contents only http://www.loc.gov/catdir/enhancements/fy0665/2005046674-d.html Publisher description HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016274624&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Understanding autism from basic neuroscience to treatment Autisme Autisme gtt Behandeling gtt Diagnostiek gtt Autism Autistic Disorder diagnosis Autistic Disorder genetics Autistic Disorder therapy |
| title | Understanding autism from basic neuroscience to treatment |
| title_auth | Understanding autism from basic neuroscience to treatment |
| title_exact_search | Understanding autism from basic neuroscience to treatment |
| title_exact_search_txtP | Understanding autism from basic neuroscience to treatment |
| title_full | Understanding autism from basic neuroscience to treatment ed. by Steven O. Moldin |
| title_fullStr | Understanding autism from basic neuroscience to treatment ed. by Steven O. Moldin |
| title_full_unstemmed | Understanding autism from basic neuroscience to treatment ed. by Steven O. Moldin |
| title_short | Understanding autism |
| title_sort | understanding autism from basic neuroscience to treatment |
| title_sub | from basic neuroscience to treatment |
| topic | Autisme Autisme gtt Behandeling gtt Diagnostiek gtt Autism Autistic Disorder diagnosis Autistic Disorder genetics Autistic Disorder therapy |
| topic_facet | Autisme Behandeling Diagnostiek Autism Autistic Disorder diagnosis Autistic Disorder genetics Autistic Disorder therapy |
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