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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.

Improving Working Memory in Learning and Intellectual Disabilities

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889198979 Year: Pages: 156 DOI: 10.3389/978-2-88919-897-9 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Psychology
Added to DOAB on : 2016-01-19 14:05:46
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The last forty years of research have demonstrated that working memory (WM) is a key concept for understanding higher-order cognition. To give an example, WM is involved in reading comprehension, problem solving and reasoning, but also in a number of everyday life activities. It has a clear role in the case of atypical development too. For instance, numerous studies have shown an impairment in WM in individuals with learning disabilities (LD) or intellectual disabilities (ID); and several researchers have hypothesized that this can be linked to their difficulties in learning, cognition and everyday life. The latest challenge in the field concerns the trainability of WM. If it is a construct central to our understanding of cognition in typical and atypical development, then specific intervention to sustain WM performance might also promote changes in cognitive processes associated with WM. The idea that WM can be modified is debated, however, partly because of the theoretical implications of this view, and partly due to the generally contradictory results obtained so far. In fact, most studies converge in demonstrating specific effects of WM training, i.e. improvements in the trained tasks, but few transfer effects to allied cognitive processes are generally reported. It is worth noting that any maintenance effects (when investigated) are even more meagre. In addition, a number of methodological concerns have been raised in relation to the use of: 1. single tasks to assess the effects of a training program; 2. WM tasks differing from those used in the training to assess the effects of WM training; and 3. passive control groups. These and other crucial issues have so far prevented any conclusions from being drawn on the efficacy of WM training. Bearing in mind that the opportunity to train WM could have a huge impact in the educational and clinical settings, it seems fundamentally important to shed more light on the limits and potential of this line of research. The aim of the research discussed here is to generate new evidence on the feasibility of training WM in individuals with LD and ID. There are several questions that could be raised in this field. For a start, can WM be trained in this population? Are there some aspects of WM that can be trained more easily than others? Can a WM training reduce the impact of LD and ID on learning outcomes, and on everyday living? What kind of training program is best suited to the promotion of such changes?

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