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Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment
Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the his...
Down Syndrome: From Understanding the Neurobiology to Therapy
Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brai...
Neurobiology of Mental Illness
Our understanding of the neurobiological basis of psychiatric disease has accelerated in the past five years. The fourth edition of Neurobiology of Mental Illness has been completely revamped given these advances and discoveries on the neurobiologic foundations of psychiatry. Like its predecessors the book begins with an overview of the basic science. The emerging technologies in Section 2 have been extensively redone to match the progress in the field including new chapters on the applications of stem cells, optogenetics, and image guided stimulation to our understanding and treatment of psychiatric disorders. Sections' 3 through 8 pertain to the major psychiatric syndromes-the psychoses, m...
An Ordinary Future
"This vivid portrait of contemporary parenting blends memoir and cultural analysis to explore evolving ideas of disability and human difference. An Ordinary Future is a deeply moving work that weaves an account of Margaret Mead's path to disability rights activism with one anthropologist's experience as the parent of a child with Down syndrome. With this book, Thomas W. Pearson confronts the dominant ideas, disturbing contradictions, and dramatic transformations that have shaped our perspectives on disability over the last century. Pearson examines his family's story through the lens of Mead's evolving relationship to disability-a topic once so stigmatized that she advised Erik Erikson to institutionalize his son, born with Down syndrome in 1944. Over the course of her career Mead would become an advocate for disability rights and call on anthropology to embrace a wider understanding of humanity that values diverse bodies and minds. Powerful and personal, An Ordinary Future reveals why this call is still relevant in the ongoing fight for disability justice and inclusion, while shedding light on the history of Down syndrome and how we raise children born different"--
The Neuronal Functions of EF-hand Ca(2+)-binding Proteins 2nd Edition
Ca2+ signaling in neurons is characterized by highly restricted and dynamic gradients called Ca2+ waves, spikes, transients and puffs depending upon their corresponding spatial and temporal features. Based on this strict segmentation the Ca2+ ion provides a versatile basis for complex signaling in neuronal subcompartments with a spatial resolution of micro- and nanodomains. The multitude of Ca2+-regulated processes requires specialized downstream processing machinery, translating the Ca2+ signal into alterations of cellular processes. The broad range of different Ca2+-triggered phenomena in neurons, ranging from neurotransmission to gene expression, is reflected by the existence of a multitu...
Behavioral Genetics of the Mouse
A comprehensive and critical overview of the major genetically modified mouse lines used to model human neurobehavioral disorders.
Advances in Down Syndrome Research
"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.
Preclinical Research in Down Syndrome: Insights for Pathophysiology and Treatments
Preclinical Research in Down Syndrome: From Bench to Bedside, Volume 251, the latest release in the Progress in Brain Research series, highlights new advances in the field. Chapters in this updated release include Exploring genetic and epigenetic mechanisms underlying cognitive deficits in Dow syndrome, The trisomy paradox: gene expression dysregulation domains, the Influence of allelic differences in mouse models of Down syndrome, Modelling Down syndrome in cells: From stem cells to organoids, Modelling Down syndrome in animals from the early stage to the new generation of models, Mapping behavioral landscapes in Down syndrome animal models, and more. - Presents content by renowned authors who review the state-of-the-art in preclinical research and provide their views and perspectives for the future of the field - Provides extensively referenced chapters, thus giving readers a comprehensive list of resources on topics covered - Includes comprehensive and in-depth background information written in a clear form that is accessible to both specialists and non-specialists
