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Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889450459 Year: Pages: 179 DOI: 10.3389/978-2-88945-045-9 Language: English
Publisher: Frontiers Media SA
Subject: Neurology --- Science (General)
Added to DOAB on : 2017-07-06 13:27:36
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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 histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.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 histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.

The molecular pathology of cognitive decline: Focus on metals

Authors: ---
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889197200 Year: Pages: 175 DOI: 10.3389/978-2-88919-720-0 Language: English
Publisher: Frontiers Media SA
Subject: Neurology --- Science (General)
Added to DOAB on : 2016-04-07 11:22:02
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In the past two decades there have been significant advances made in understanding the cellular and molecular alterations that occur with brain ageing, as well as with our understanding of age-related brain diseases. Ageing is associated with a mid-life decline in many cognitive domains (eg. Attention, working memory, episodic memory) that progresses with advancing age and which may be potentiated by a variety of diseases. However, despite the breadth of attempts to explain it, the underlying basis for age-related memory impairment remains poorly understood. Both normal and “pathological” ageing (as in age-related neurodegenerative disorders such as Alzheimer’s disease) may be associated with overlapping and increased levels of “abnormal” pathology, and this may be a potential mediator of cognitive decline in both populations. An emerging hypothesis in this field is that metal ion dys/homeostasis may represent a primary unifying mechanism to explain age- and disease-associated memory impairment – either indirectly via an effect on disease pathogenesis, or by a direct effect on signaling pathways relevant to learning and memory. There remains a concerted worldwide effort to deliver an effective therapeutic treatment for cognitive decline associated with ageing and/or disease, which is currently an unmet need. There have been numerous clinical trials conducted specifically testing drugs to prevent cognitive decline and progression to dementia, but to date the results have been less than impressive, highlighting the urgent need for a greater understanding of the neurobiological basis of memory impairment in ageing and disease which can then drive the search for effective therapeutics.

Mechanisms of Mitotic Chromosome Segregation

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ISBN: 9783038424031 9783038424024 Year: Pages: VIII, 332 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Biology
Added to DOAB on : 2017-05-10 09:52:09
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This book describes current knowledge about the mechanisms by which cells segregate their already duplicated chromosomes in preparation for cell division. Experts in the field treat several important aspects of this subject: (1) the history of research on mitotic mechanisms, to serve as a background; (2) assembly of the mitotic spindle; (3) Kinetochore assembly and function; (4) the mechanisms of chromosome congression to the metaphase plate; (5) the spindle assembly checkpoint; (6) mechanisms to avoid and correct erroneous chromosome attachments to the spindle; (7) a molecular perspective on spindle assembly in land plants; (8) chromosome segregation in anaphase A; (9) spindle elongation in anaphase B; and (10) the consequences of errors in chromosome segregation. Each chapter provides the reader with a comprehensive and accurate picture of current research in a form that is both readable and authoritative. The volume is suitable for scholars in this and related fields and for teaching at an advanced level.

Mental State Understanding: Individual Differences in Typical and Atypical Development

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889452682 Year: Pages: 203 DOI: 10.3389/978-2-88945-268-2 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Psychology
Added to DOAB on : 2018-02-27 16:16:44
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The current book addresses the development of mental state understanding in children with typical and atypical population, and reports new suggestions about the way to evaluate it and to support it through training. The presented frame is multifaceted. In respect to typical populations, the role of maternal reflective functioning, language, communication, and educational contexts has been deepened; and the association with internalizing/externalizing behaviors, performances in spatial tasks and pragmatics has been addressed as well. As to atypical populations, deficits in mental states understanding are reported for children with different developmental disorders or impairments, as the agenesis of the corpus callosum, Down Syndrome, preterm birth, Autism Spectrum Disorder, hearing impairment and personality difficulties such as anxiety. Overall, the papers collected in our book allow a better understanding of the mechanisms influencing mental state understanding and the effects of mental state comprehension on development.

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