Mental Retardation and Developmental Delay

Genetic and Epigenetic Factors


Series: Oxford Monographs on Medical Genetics

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.

In The Press

"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