Genes, Brain and Development: The Neurocognition of Genetic Disorders (Series for the International Neuropsychological Society)

Genetic syndromes and neurodevelopmental disorders that have a genetic basis are associated with cognitive and academic disabilities. Genes, Brain and Development reviews the connections between genes, brain, and behavior for a range of genetic disorders, and also considers lifespan and treatment issues. The content further explores what is known about development in neurogenetic disorders, particularly in the domains of language and mathematics, and shows how this knowledge is pertinent to understanding both these specific disorders, and disorders of language and math more generally. This will be essential reading for a wide range of brain scientists and developmental clinicians, including neuropsychologists, cognitive psychologists, neurologists, psychiatrists, pediatricians, neuroscientists and geneticists. Half-title......Page 3 Title......Page 5 Copyright......Page 6 Dedication......Page 7 Contents......Page 9 Contributors......Page 11 Organization of the book......Page 13 Heterogeneity in genes, brain, and behavior......Page 16 References......Page 17 Acknowledgments......Page 18 Section 1 Connecting genes, brain, and behavior in neurodevelopmental disorders......Page 19 Introduction......Page 21 Fragile X syndrome......Page 22 The premutation......Page 23 Diagnostic criteria......Page 27 Pathological features......Page 28 Treatment......Page 29 Discussion......Page 30 References......Page 31 Introduction......Page 37 Genetics......Page 39 Neuroanatomical findings......Page 42 Initial outcome studies......Page 46 Changes in autistic symptoms......Page 47 Stability of early diagnosis......Page 49 Subgroups of children with ASDs......Page 50 Optimal outcome......Page 51 Intervention......Page 52 Behavioral interventions......Page 53 Developmental interventions......Page 55 Peer training......Page 56 Mechanisms of improvement......Page 57 References......Page 60 What is SBM?......Page 71 The SBM genotype......Page 72 Relations between genotype and physical and neural phenotypes......Page 73 The SBM behavioral phenotype in relation to lesion level and environmental factors: Intelligence, academic skills, and adaptive function......Page 74 Core deficits......Page 75 Attention orienting......Page 76 Associative vs. assembled processing......Page 77 Reading......Page 79 Environmental risk and protective factors in the development of children with SBM......Page 85 Life-span and longitudinal investigations of mathematical cognition in SBM......Page 87 Clinical care and intervention issues......Page 90 References......Page 92 Section 2 Genetic disorders and models of neurocognitive development......Page 101 Introduction......Page 103 Early language profiles and predictors of language outcomes......Page 104 Follow-up studies: Overlap in ASD and language disorders......Page 108 Language processing in ASD and language disorders......Page 109 Overlap in behavioral phenotypes......Page 112 Overlap in neural phenotypes......Page 114 Etiological overlap......Page 115 Conclusions and future directions......Page 117 References......Page 118 Introduction......Page 123 Syntax in Williams syndrome......Page 124 Participants......Page 128 Design and materials......Page 129 Results......Page 131 Discussion......Page 134 References......Page 137 6 Language in Down syndrome: A life-span perspective......Page 140 Prelinguistic development......Page 141 Articulatory Problems......Page 143 Lexical Development......Page 144 Constraints on Lexical Learning......Page 145 Lexical Organization in LTM......Page 146 Morphosyntatic Development......Page 147 Pragmatics......Page 148 Discourse......Page 149 The Critical Period Problem......Page 150 Interindividual variability......Page 152 Language aging......Page 153 References......Page 155 Neurodevelopmental disorders and mathematics learning disability......Page 161 Fragile X syndrome......Page 162 Turner syndrome......Page 163 Framework for studying MLD......Page 164 Syndrome models of variation in pathways to MLD......Page 165 Sources of variability across groups......Page 166 Phenotypic variability despite genetic homogeneity......Page 167 Prevalence and persistence......Page 168 Math skills......Page 169 Relationship between math and related skills......Page 173 Math skills......Page 176 Relationship between math and related skills......Page 177 Relationship between math and related skills......Page 181 Exploring the complexity of cognitive correlates of MLD......Page 183 Math and Williams syndrome......Page 184 Math and Language......Page 186 References......Page 187 Introduction......Page 193 Different approaches to developmental disorder......Page 194 Populations studied......Page 196 Examples from early language development......Page 198 Number studies......Page 203 Face processing......Page 207 Conclusions......Page 209 References......Page 212 The field dependent–independent cognitive style and role of simultaneous and successive processes......Page 217 Strategy competencies and deficits in individuals with mental retardation......Page 220 Participants......Page 221 Instruction......Page 222 Results......Page 223 Effect of mental age......Page 224 Interactions......Page 225 Discussion......Page 226 References......Page 230 Index......Page 234 Genetic Disorders That Affect Neurodevelopment Are Informative For Understanding The Relations Between Genes, Brain, And Behavior And For Testing Cognitive Models. The Chapters In The First Section Of This Volume Deal With Three Major Neurogenetic Disorders, Fragile X Diagnosed Through Its Genotype Often As A Consequence Of Developmental Delays, Spina Bifida Identified In Utero Or At Birth Based On Its Physical Phenotype - The Spinal Lesion, And Autism, Diagnosed Through Its Behavioral Phenotype In Childhood, Increasingly In The Early Preschool Years--provided By Publisher. Intergenerational Effects Of Mutations In The Fragile X Mental Retardation 1 Gene : Fragile X : A Model Of X-linked Mental Retardation And Neurodegeneration / Mariya Borodyanskaya ... [et Al.] -- Autism : Genes, Anatomy, And Behavioral Outcome / Emma Esser, Saasha Sutera, And Deborah Fein -- Development In Spina Bifida : Neurobiological And Environmental Factors / Marcia A. Barnes ... [et Al.] -- Language And Communication In Autism Spectrum Disorders / Susan Ellis Weismer -- Language Development In Children With Williams Syndrome : New Insights From Cross-linguistic Research / Stavroula Stavrakaki -- Language In Down Syndrome : A Life-span Perspective / Jean A. Rondal -- Genetic Disorders As Models Of Mathematics Learning Disability : Fragile X And Turner Syndromes / Melissa M. Murphy, Michèle M.m. Mazzocco, And Michael Mccloskey -- A Developmental Approach To Genetic Disorders / Sarah J. Paterson -- The Use Of Strategies In Embedded Figures : Tasks By Boys With And Without Organic Mild Mental Retardation : A Review And Some Experimental Evidence / Anastasia Alevriadou And Helen Tsakiridou. Edited By Marcia A. Barnes. Includes Bibliographical References And Index. Machine generated contents note: Part I. Connecting Genes, Brain, and Behavior in Neurodevelopmental Disorders: 1. Fragile X: a model of X-linked mental retardation and neurodegeneration Mariya Borodyanskaya, Sarah Coffey, Michele Ono and Randi J. Hagerman; 2. Autism: genes, anatomy, and behavioral outcome Emma Esser, Saasha Sutera and Deborah Fein; 3. Development in spina bifida: neurobiological and environmental factors Marcia A. Barnes, Heather Taylor, Susan B. Landry and Lianne H. English; Part II. Genetic Disorders and Models of Neurocognitive Development: 4. Language and communication in autism spectrum disorders Susan Ellis Weismer; 5. Language development in children with Williams syndrome: new insights from cross-linguistic research Stavroula Stavrakaki; 6. Language in Down syndrome: a life-span perspective Jean A. Rondal; 7. Genetic disorders as models of mathematics learning disability: fragile X and Turner syndromes Melissa M. Murphy, Michèle M. M. Mazzocco and Michael McCloskey; 8. A developmental approach to genetic disorders Sarah J. Paterson; 9. The use of strategies in embedded figures. Tasks by boys with and without organic mild mental retardation: a review and some experimental evidence A. Alevriadou and H. Tsakiridou.