Mental Retardation and Developmental Delay

Mental Retardation and Developmental Delay : Genetic and Epigenetic Factors

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Description

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.show more

Product details

  • Hardback | 344 pages
  • 157.5 x 236.2 x 20.3mm | 589.68g
  • Oxford University Press Inc
  • New York, United States
  • English
  • 43 line illustrations
  • 0195174321
  • 9780195174328
  • 2,057,878

Review quote

"This book is a little gem...The remit is extensive and the book is compact. It will therefore be a useful summary of current understanding to be used as a reference and would be particularly helpful for medical undergraduates invovled in a vertically constructed curriculum or for pediatricians, whether in training or maintaining their CPD. It is not just a book for someone who wants to know the answer, but for someone who wants to know why the answer is as it is and rejoices in the explanation."--Archives of Disease in Childhood "This book is a little gem...The remit is extensive and the book is compact. It will therefore be a useful summary of current understanding to be used as a reference and would be particularly helpful for medical undergraduates invovled in a vertically constructed curriculum or for pediatricians, whether in training or maintaining their CPD. It is not just a book for someone who wants to know the answer, but for someone who wants to know why the answer is as it is and rejoices in the explanation."--Archives of Disease in Childhood "This book is a little gem...The remit is extensive and the book is compact. It will therefore be a useful summary of current understanding to be used as a reference and would be particularly helpful for medical undergraduates invovled in a vertically constructed curriculum or for pediatricians, whether in training or maintaining their CPD. It is not just a book for someone who wants to know the answer, but for someone who wants to know why the answer is as it is and rejoices in the explanation."--Archives of Disease in Childhood "This book is a little gem...The remit is extensive and the book is compact. It will therefore be a useful summary of current understanding to be used as a reference and would be particularly helpful for medical undergraduates invovled in a vertically constructed curriculum or for pediatricians, whether in training or maintaining their CPD. It is not just a book for someone who wants to know the answer, but for someone who wants to know why the answer is as it is and rejoices in the explanation."--Archives of Disease in Childhood "This book is a little gem...The remit is extensive and the book is compact. It will therefore be a useful summary of current understanding to be used as a reference and would be particularly helpful for medical undergraduates invovled in a vertically constructed curriculum or for pediatricians, whether in training or maintaining their CPD. It is not just a book for someone who wants to know the answer, but for someone who wants to know why the answer is as it is and rejoices in the explanation."--Archives of Disease in Childhoodshow more

Table of contents

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 normal cognition ; 7. Nonsyndromic mental retardation, autism and language deficits ; 8. Genomics, functional genomics and epigenetics: relevance to mental retardation ; 9. Establishing a diagnosis and determining etiology in developmental delay and mental retardation ; 10. Epilogue: the value of genetic diagnosis - applying knowledge about etiology to prevention and treatmentshow more