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Genetic syndromes and neurodevelopmental disorders that have a genetic basis are associated with cognitive and academic disabilities. Genes, Brain and Development reviews the connections between genes, brain, and behavior for a range of genetic disorders, and also considers lifespan and treatment issues. The content further explores what is known about development in neurogenetic disorders, particularly in the domains of language and mathematics, and shows how this knowledge is pertinent to understanding both these specific disorders, and disorders of language and math more generally. This will be essential reading for a wide range of brain scientists and developmental clinicians, including neuropsychologists, cognitive psychologists, neurologists, psychiatrists, pediatricians, neuroscientists and geneticists.

This book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. --from publisher 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.

Genetic disorders in children can have highly variable effects. Even relatively common disorders may go undiagnosed and untreated by clinicians who are not familiar with the range of \"atypical\" cognitive or behavioral symptoms possible in an affected child. Recent research in genetics and brain development has altered the phenotypic description of various disorders, but this new knowledge is not readily available to practitioners. This collection provides a single resource that will help clinicians, pediatricians, neuropsychologists, educators, and others use the latest research to identify and treat a variety of genetic disorders as early as possible.The chapter authors report on the full range of phenotypes, including \"subtle\" or atypical variants, for each disorder. They describe disorders that have wide-ranging cognitive phenotypes and a well-understood genetic etiology (including Fragile X, Turner, and Klinefelter syndromes), discussing the genotype that leads to the syndrome, the medical implications, and the behavioral or psychological consequences. The chapter authors also report on more complex categories of etiologies, including congenital hypothyroidism and metabolic disorders, the genetic components of which are not completely understood. Finally, they go beyond diagnosis, discussing genetic counseling, family adaptation, and early intervention options for the preschool- and school-age years.

International Review of Research in Developmental Disabilities is an ongoing scholarly look at the latest research on the causes, effects, classification systems, syndromes, etc.

While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

Up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis; here, in a systematic and nationwide study of 1,133 children with severe, undiagnosed developmental disorders, and their parents, exome sequencing and array-based detection of chromosomal rearrangements reveals novel genes causing developmental disorders, increasing the proportion of children that can now be diagnosed to 31%. Gene linkage to developmental disorders Until recently, the discovery of the genetic causes of monogenic disorders has been predominantly phenotype-driven. Up to half of all children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. This publication from The Deciphering Developmental Disorders Study presents a UK-wide systematic genetic analysis of 1,133 children with severe, undiagnosed developmental disorders, and their parents. Exome sequencing and array-based detection of chromosomal rearrangements revealed 12 previously unknown developmental disorder genes and increased the proportion of children that could be diagnosed by 10%. Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders 1 , up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here we demonstrate the power of using an unbiased genotype-driven approach 2 to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders.

Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between germline mutations and PZMs. Spatiotemporal analyses of the PZMs also revealed the association of the amygdala with ASD and implicated risk genes, including recurrent potential gain-of-function mutations in SMARCA4 . We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls ( P < 1 × 10 −6 ), and genes carrying these PZMs were enriched for expression in the amygdala ( P = 5.4 × 10 −3 ). Two genes ( KLF16 and MSANTD2 ) were significantly enriched for PZMs genome-wide, and other PZMs involved genes ( SCN2A , HNRNPU and SMARCA4 ) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk.