Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors (Oxford Monographs on Medical Genetics)

Introduction. 1. Science, Society, and Mental Retardation, A History. 2. Neurogenesis, Neuronal Migration, Maturation, and Function: Insights into Learning and Memory. 3. Structural Brain Anomalies and Neural Tube Defects. 4. Mental Retardation Associated with Dysmorphology, Growth Retardation, or Overgrowth. 5. Mental Retardation Associated with Other Neurological Defects. 6. Mental Retardation that Develops After a Period of Norma Cognition. 7. Nonsyndromic Mental Retardation, Autism, and Language Deficits. 8. Genomics, Functional Genomics, and Epigenetics: Relevance to Mental Retardation. 9. Read more... Abstract: Introduction. 1. Science, Society, and Mental Retardation, A History. 2. Neurogenesis, Neuronal Migration, Maturation, and Function: Insights into Learning and Memory. 3. Structural Brain Anomalies and Neural Tube Defects. 4. Mental Retardation Associated with Dysmorphology, Growth Retardation, or Overgrowth. 5. Mental Retardation Associated with Other Neurological Defects. 6. Mental Retardation that Develops After a Period of Norma Cognition. 7. Nonsyndromic Mental Retardation, Autism, and Language Deficits. 8. Genomics, Functional Genomics, and Epigenetics: Relevance to Mental Retardation. 9 Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, which newly propels investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Introductory chapters cover normal and abnormal brain structure, neurogenesis, neuronal proliferation, and signal transduction. Latter chapters delve into discussions of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells. Content: Science, society, and mental retardation: a history -- Neurogenesis, neuronal migration, maturation, and function: insights into learning and memory -- Structural brain anomalies and neural tube defects -- Mental retardation associated with dysmorphology, growth retardation, or overgrowth -- Mental retardation associated with other neurological defects -- Mental retardation that develops after a period of normal cognition -- Non-syndromic mental retardation, autism, and language deficits -- Genomics, functional genomics, and epigenetics -- Establishing a diagnosis and determining etiology -- The value of genetic diagnosis: applying knowledge about etiology to prevention and treatment -- Epilogue: The value of genetic diagnosis -- Applying knowledge about etiology to prevention and treatment. This Book Makes Readily Available Current Knowledge On The Subject Of Mental Retardation And Developmental Delay And Applies It To Clinical Medicine, Providing Information Essential To Neurologists, Geneticists, Physicians And Pediatricians As They Search For The Causes Of Mental Handicap In Their Patients. Chapters Cover Normal And Abnormal Brain Structure, Neurogenesis, And Signal Transduction Before Delving Into A Discussion Of Both The Environmental Factors That May Lead To Neurocognitive Deficits And The Cytogenetic, Biochemical And Molecular Defects Specifically Associated With Mental Retardation. The Text Concludes With A Clinically Practical Discussion Of Carrier Detection, Presymptomatic Diagnosis, And Treatment Of Various Genetic Diseases. "Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, reinvigorating investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, internists, and pediatricians as they search for the causes of mental handicaps in their patients."--Jacket