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El. knyga: Early Development in Neurogenetic Disorders

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Volume editor (Professor, Department of Human Development and Family Studies, Colorado State University, USA)
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When and how do phenotypic profiles start during the developmental process, and can they be impacted by the environment and family? US researchers in child psychiatry, developmental disabilities, genomics, and neurodevelopment investigate these questions in this special issue of the International Review of Developmental Disabilities. Contributors describe the latest research on early development in children with neurogenetic disorders that cause intellectual disability and shed light on the relationship between genetic conditions and phenotypic expression, and the link between neurogenetic disorder and behavioral outcomes. Some specific subjects addressed include social-cognitive skills in young children with Williams Syndrome, early diagnosis of chromosomal disorders associated with intellectual disability, and diagnosing autism in those with known genetic syndromes. Fidler teaches human development and family studies at Colorado State University. Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com)



This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education.

The main selling points of this volume are:

    • the comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research.

    • innovation in the application of new approaches to this population, such dynamic systems theory and the developmental trajectory approach to studying these populations place this volume on the cutting edge of theoretical work in this area

    • this volume also addresses the implications of emerging behavioural phenotypes in neurogenetic disorders from many angles-the biological issues related to diagnosis, psychiatric issues related to comorbid conditions such as autism and autism spectrum disorder, and educational issues related to targeted intervention

Recenzijos

"When and how do phenotypic profiles start during the developmental process, and can they be impacted by the environment and family? US researchers in child psychiatry, developmental disabilities, genomics, and neurodevelopment investigate these questions in this special issue of the International Review of Developmental Disabilities. Contributors describe the latest research on early development in children with neurogenetic disorders that cause intellectual disability and shed light on the relationship between genetic conditions and phenotypic expression, and the link between neurogenetic disorder and behavioral outcomes. Some specific subjects addressed include social-cognitive skills in young children with Williams Syndrome, early diagnosis of chromosomal disorders associated with intellectual disability, and diagnosing autism in those with known genetic syndromes. Fidler teaches human development and family studies at Colorado State University." --Reference and Research Book News, October 2012

Daugiau informacijos

This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability
Contributors ix
Preface xi
Series Preface xvii
1 Static Snapshots versus Dynamic Approaches to Genes, Brain, Cognition and Behaviour in Neurodevelopmental Disabilities
1(16)
Annette Karmiloff-Smith
1 Introduction
2(1)
2 The Atypical Case
3(1)
3 Domain Relevance: An Alternative to Domain-Specific Processes
4(1)
4 Static Versus Dynamic Approaches to Developmental Disabilities: The Example of the Cognitive Domain, Number
5(1)
5 Static Interpretation
6(1)
6 Dynamic Interpretation
7(2)
7 Implications for Intervention
9(1)
8 Rethinking Some Evolutionary Assumptions
9(1)
9 Concluding Thoughts
10(7)
References
11(6)
2 Emerging Behavioral Phenotypes and Dynamic Systems Theory
17(26)
Deborah J. Fidler
Erika Lunkenheimer
Laura Hahn
1 Emerging Behavioral Phenotypes and Dynamic Systems
18(1)
2 Dynamic Systems Theory
19(3)
3 Emerging Phenotypes and Attractor States
22(4)
4 Developmental Cascades
26(4)
5 Phase Transitions
30(4)
6 Future Directions
34(9)
References
36(7)
3 Developmental Trajectories in Genetic Disorders
43(32)
Victoria C. P. Knowland
Michael S. C. Thomas
1 Introduction
44(1)
2 Why is Development Important?
45(4)
3 Developmental Trajectories
49(2)
4 Types of Trajectory: Behavior and Brain
51(15)
5 Discussion
66(9)
Acknowledgments
68(1)
References
68(7)
4 Early Development in Fragile X Syndrome: Implications for Developmental Screening
75(34)
Donald B. Bailey
Heather Cody Hazlett
Jane E. Roberts
Anne C. Wheeler
1 Early Brain Development in Fragile X Syndrome
78(5)
2 Early Developmental Patterns in Fragile X Syndrome
83(6)
3 Early Behavioral and Emotional Features of Fragile X Syndrome
89(6)
4 Discussion
95(3)
5 Conclusion
98(11)
Acknowledgements
99(1)
References
99(10)
5 The Early Development of Adaptive Behavior and Functional Performance in Young Children with Down Syndrome: Current Knowledge and Future Directions
109(30)
Lisa A. Daunhauer
1 Adaptive Behavior in the Down Syndrome Behavioral Phenotype
113(2)
2 Evidence for a Distinctive Adaptive Behavior Profile in Children with Down Syndrome
115(3)
3 Functional Performance in the Down Syndrome Behavioral Phenotype
118(5)
4 Evidence for a Specific Functional Performance Profile in Children with Down Syndrome
123(1)
5 Interpreting Potential Differences is an Adaptive Behavior and Functional Performance Profiles in Down Syndrome
124(1)
6 Examining Predictors of Adaptive Behavior and Functional Status in Down Syndrome
125(2)
7 Issues and Recommendations Related to Measuring Both Adaptive Behavior and Functional Performance in Down Syndrome
127(3)
8 Future Directions for Intervention
130(1)
9 Conclusions
131(8)
References
131(8)
6 Sex Chromosome Aneuploidies: A Window for Examining the Effects of the X And Y Chromosomes on Speech, Language, and Social Development
139(42)
Nancy Raitano Lee
Katherine C. Lopez
Elizabeth I. Adeyemi
Jay N. Giedd
1 Rates of Occurrence and Etiology
141(2)
2 The Human Sex Chromosomes
143(2)
3 Sex Chromosome Aneuploidy Phenotypes
145(23)
4 Discussion
168(13)
Acknowledgments
174(1)
References
174(7)
7 Social-Perceptual and Social-Cognitive Skills in Young Children with Williams Syndrome: Evidence for Discontinuity
181(30)
Susan L. Hepburn
Deborah Fidler
Laura Hahn
Amy Philofsky
1 Williams Syndrome Overview
182(2)
2 Social Relatedness in Williams Syndrome
184(6)
3 Case Example: Williams Syndrome, Autism, and Typical Development
190(3)
4 Results
193(7)
5 Discussion
200(11)
Acknowledgments
204(1)
References
204(7)
8 Innovations in the Early Diagnosis of Chromosomal Disorders Associated with Intellectual Disability
211(18)
Lisa G. Shaffer
1 Introduction
212(1)
2 Chromosome Analysis
212(2)
3 Fluorescence In Situ Hybridization (FISH)
214(2)
4 Genomic Microarrays
216(2)
5 Postnatal Detection of Chromosome Abnormalities by Microarray Analysis
218(2)
6 Prenatal Testing by Microarray Analysis
220(1)
7 New Syndrome Identification by Microarray Analysis
221(1)
8 Summary
222(7)
Acknowledgments
224(1)
References
224(5)
9 Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention
229(32)
Susan L. Hepburn
Eric J. Moody
1 Assumptions Concerning Autism Spectrum Disorders
232(2)
2 Assessing Autism Symptoms in a Child with a Known Genetic Disorder
234(14)
3 Implications for Intervention
248(3)
4 Concluding Comments
251(10)
Acknowledgments
251(1)
References
252(9)
10 Infusing Etiology into Intervention: A Model for Translational Research in Education
261(32)
Karen Riley
1 Framework Components
263(4)
2 Fragile X Syndrome
267(5)
3 Intervention and Etiology
272(12)
4 Summary
284(3)
5 Future Directions
287(6)
Index 293(10)
Contents of Previous Volumes 303
Dr. Deborah Fidler is a Professor in the Department of Human Development and Family Studies at Colorado State University. Her research expertise is in the area of early development in individuals with neurogenetic syndromes, with a particular focus on the behavioral phenotype in Down syndrome and its implications for intervention and educational practice.
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