Outcomes In Neurodevelopmental And Genetic Disorders

Succinct, up-to-date research summaries and practical guidelines for intervention in and management of a variety of developmental and genetic disorders.

Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.

Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of interactions between gene expression, cortical and subcortical brain networks, and environmental influences. In recent years, our study of neurodevelopmental disorders has provided much valuable information on how genes, brain development, behaviour, and environment interact to influence development from infancy to adulthood. This is the first book to present evidence on development across the lifespan across these multiple levels of description (genetic, brain, cognitive, environmental). In the book, the authors have chosen a well-defined disorder, Williams syndrome (WS), to explore the impact of genes, brain development, behaviour, as well as the individual's environment on development. WS is used as a model disorder to demonstrate the authors approach to understanding development, whilst being presented in comparison to other neurodevelopmental disorders - Autism, Developmental Dyscalculia, Down syndrome, Dyslexia, Fragile X syndrome, Prader-Willi syndrome, Specific Language Impairment, Turner syndrome - to illustrate differences in development across neurodevelopmental disorders. Williams syndrome is particularly informative for exploring development: Firstly, it has been extensively researched at multiple levels: genes, brain, cognition and behaviour, as well as in terms of the difficulties of daily living and social interaction. Secondly, it has been studied across the lifespan, with many studies on infants and toddlers with WS as well as a large number on children, adolescents and adults. The authors also explore a number of domain-general and domain-specific processes in the verbal, non-verbal and social domains, across numerous neurodevelopmental disorders. This illustrates, among other factors, the importance of developmental timing, i.e. that the development of a cognitive skill at a specific timepoint can impact on subsequent development within that domain, but also across domains. In addition, the authors discuss the value of investigating basic-level abilities from as close to the infant start-state as possible, presenting evidence of where cross-syndrome comparisons have shed light on the cascading impacts of subtle similarities and discrepancies in early delay or deviance, on subsequent development. Designed such that readers with an interest in any neurodevelopmental disorder can gain insight into the intricate dynamics of cognitive development, the book covers both theoretical issues and those of clinical relevance. It will be an invaluable reference for any researcher, clinician, student as well as interested parents or teachers wishing to learn about neurodevelopmental disorders from a developmental framework.