Mental Retardation and Developmental Delay
Genetic and Epigenetic Factors
Sorozatcím: Oxford Monographs on Medical Genetics;
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A termék adatai:
- Kiadó OUP USA
- Megjelenés dátuma 2005. december 1.
- ISBN 9780195174328
- Kötéstípus Keménykötés
- Terjedelem344 oldal
- Méret 160x236x20 mm
- Súly 601 g
- Nyelv angol
- Illusztrációk 43 line illustrations 0
Kategóriák
Rövid leírás:
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.
TöbbHosszú leírás:
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.
TöbbTartalomjegyzék:
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
Nonsyndromic mental retardation, autism and language deficits
Genomics, functional genomics and epigenetics: relevance to mental retardation
Establishing a diagnosis and determining etiology in developmental delay and mental retardation
Epilogue: the value of genetic diagnosis - applying knowledge about etiology to prevention and treatment
