Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors
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.
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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
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abnormalities activity adrenoleukodystrophy allele amino acid analysis Angelman syndrome associated autism behavioral binding brain cells characterized chromatin clinical cognitive complex congenital cortex deficiency dehydrogenase deletion dendritic developmental delay diagnosis disorder DNA sequence domain dysmorphology enzyme etiology facial factors families fatty acids function Gaucher disease gene encoding gene expression genome glutamate histone Hum Genet human impairment inactivation inborn errors individuals inherited kinase lead levels linkage lissencephaly loci malformations MECP2 membrane mental retardation methylation mice microcephaly mitochondrial Mol Genet Molecular mRNA Nat Genet neural tube defects neurological neuronal neuronal migration newborn screening nonsyndromic normal number of different occur pathway patients Pediatr peroxisomal phenotype phenylalanine phenylketonuria play a role polymorphic present protein pyruvate receptors region reported Rett syndrome seizures signal specific gene storage disease structure studies subunits symptoms therapy tion tissue transcription translocation treatment UBE3A ubiquitin X chromosome X-linked X-linked mental retardation