The Experts below are selected from a list of 86235 Experts worldwide ranked by ideXlab platform
Stylianos E Antonarakis - One of the best experts on this subject based on the ideXlab platform.
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Down Syndrome and the complexity of genome dosage imbalance
Nature Reviews Genetics, 2017Co-Authors: Stylianos E AntonarakisAbstract:In this article, the author reviews the current understanding of the genetic basis for Down Syndrome phenotypes, including congenital heart defects, Alzheimer disease and leukaemia. The potential for Down Syndrome therapies is discussed in light of recent progress in the field. Down Syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications. The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance. Studies of Down Syndrome could provide knowledge far beyond the well-known characteristics of intellectual disability and dysmorphic features, as several other important features, including congenital heart defects, early ageing, Alzheimer disease and childhood leukaemia, are also part of the Down Syndrome phenotypic spectrum. The elucidation of the molecular mechanisms that cause or modify the risk for different Down Syndrome phenotypes could lead to the introduction of previously unimaginable therapeutic options.
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Down Syndrome and the complexity of genome dosage imbalance
Nature Reviews Genetics, 2017Co-Authors: Stylianos E AntonarakisAbstract:Trisomy 21 is probably a disorder of altered gene expression. The dysregulation of gene expression in trisomy 21 is not confined to genes on chromosome 21, but is instead a genome-wide effect. This dysregulation may be linked to chromatin domains. The development of many mouse models for partial or full trisomy provides the opportunity to understand the molecular pathophysiology of Down Syndrome; these models are extremely useful in the preclinical development of therapeutic interventions. Considerable progress has been made in the understanding of some of the phenotypic consequences of trisomy 21. The idea of a Down Syndrome Genomes Project is proposed for the understanding of the genomic variation that causes or predisposes individuals to the various phenotypic characteristics of Down Syndrome. Recent pharmaceutical treatment efforts are discussed. In this article, the author reviews the current understanding of the genetic basis for Down Syndrome phenotypes, including congenital heart defects, Alzheimer disease and leukaemia. The potential for Down Syndrome therapies is discussed in light of recent progress in the field. Down Syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications. The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance. Studies of Down Syndrome could provide knowledge far beyond the well-known characteristics of intellectual disability and dysmorphic features, as several other important features, including congenital heart defects, early ageing, Alzheimer disease and childhood leukaemia, are also part of the Down Syndrome phenotypic spectrum. The elucidation of the molecular mechanisms that cause or modify the risk for different Down Syndrome phenotypes could lead to the introduction of previously unimaginable therapeutic options.
Richard Goldstein - One of the best experts on this subject based on the ideXlab platform.
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self perceptions from people with Down Syndrome
American Journal of Medical Genetics Part A, 2011Co-Authors: Brian G Skotko, Susan P Levine, Richard GoldsteinAbstract:This study asks people with Down Syndrome, ages 12 and older, about their self-perception so that their information could be shared with new and expectant parents of children with Down Syndrome. We analyzed valid and reliable survey instruments from 284 people with Down Syndrome on the mailing lists of six non-profit Down Syndrome organizations around the country. Among those surveyed, nearly 99% of people with Down Syndrome indicated that they were happy with their lives; 97% liked who they are; and 96% liked how they look. Nearly 99% people with Down Syndrome expressed love for their families, and 97% liked their brothers and sisters. While 86% of people with Down Syndrome felt they could make friends easily, those with difficulties mostly had isolating living situations. A small percentage expressed sadness about their life. In our qualitative analysis, people with Down Syndrome encouraged parents to love their babies with Down Syndrome, mentioning that their own lives were good. They further encouraged healthcare professionals to value them, emphasizing that they share similar hopes and dreams as people without Down Syndrome. Overall, the overwhelming majority of people with Down Syndrome surveyed indicate they live happy and fulfilling lives.
Maaike A.a. Kusters - One of the best experts on this subject based on the ideXlab platform.
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Inborn Errors of Adaptive Immunity in Down Syndrome
Journal of Clinical Immunology, 2020Co-Authors: Ruud H.j. Verstegen, Maaike A.a. KustersAbstract:Down Syndrome fits an immunophenotype of combined immunodeficiency with immunodysregulation, manifesting with increased susceptibility to infections, autoimmunity, autoinflammatory diseases, and hematologic malignancies. Qualitative and quantitative alterations in innate and adaptive immunity are found in most individuals with Down Syndrome. However, there is substantial heterogeneity and no correlation between immunophenotype and clinical presentation. Previously, it was thought that the immunological changes in Down Syndrome were caused by precocious aging. We emphasize in this review that the immune system in Down Syndrome is intrinsically different from the very beginning. The overexpression of specific genes located on chromosome 21 contributes to immunodeficiency and immunodysregulation, but gene expression differs between genes located on chromosome 21 and depends on tissue and cell type. In addition, trisomy 21 results in gene dysregulation of the whole genome, reflecting the complex nature of this Syndrome in comparison to well-known inborn errors of immunity that result from monogenic germline mutations. In this review, we provide an updated overview focusing on inborn errors of adaptive immunity in Down Syndrome.
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Inborn Errors of Adaptive Immunity in Down Syndrome
Journal of Clinical Immunology, 2020Co-Authors: Ruud H.j. Verstegen, Maaike A.a. KustersAbstract:Down Syndrome fits an immunophenotype of combined immunodeficiency with immunodysregulation, manifesting with increased susceptibility to infections, autoimmunity, autoinflammatory diseases, and hematologic malignancies. Qualitative and quantitative alterations in innate and adaptive immunity are found in most individuals with Down Syndrome. However, there is substantial heterogeneity and no correlation between immunophenotype and clinical presentation. Previously, it was thought that the immunological changes in Down Syndrome were caused by precocious aging. We emphasize in this review that the immune system in Down Syndrome is intrinsically different from the very beginning. The overexpression of specific genes located on chromosome 21 contributes to immunodeficiency and immunodysregulation, but gene expression differs between genes located on chromosome 21 and depends on tissue and cell type. In addition, trisomy 21 results in gene dysregulation of the whole genome, reflecting the complex nature of this Syndrome in comparison to well-known inborn errors of immunity that result from monogenic germline mutations. In this review, we provide an updated overview focusing on inborn errors of adaptive immunity in Down Syndrome.
Sue Buckley - One of the best experts on this subject based on the ideXlab platform.
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Phonological awareness in children with Down Syndrome.
Down Syndrome Research and Practice, 2020Co-Authors: Helen Fletcher, Sue BuckleyAbstract:Research in the area of phonological awareness has mainly focused on the nature of the relationship between reading ability and awareness of phonemes. However, a recent study of phonological awareness in children with Down Syndrome questioned the existence of any necessary relationship (Cossu, Rossini & Marshall, 1993). This paper describes a study of phonological awareness in children with Down Syndrome with varying levels of reading ability. The sample consisted of 10 male and 7 female children with Down Syndrome (aged 9 years 2 months to 14 years 5 months). All children received a battery of tests which consisted of assessments of: 1) phonological awareness, 2) reading and spelling competence, 3) non-word reading and spelling ability, and 4) non-verbal measures. Children with Down Syndrome demonstrated measurable levels of phonological awareness. Significant positive correlations were found between phonological awareness and: reading and spelling competence, ability to spell non-words and non-verbal measures.
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Down Syndrome Across the Life Span
2001Co-Authors: Monica Cuskelly, Anne Jobling, Sue BuckleyAbstract:Beyond the myths: representing people with Down Syndrome / Jan Gothard -- Learning in young children with Down Syndrome: public perceptions, empirical evidence / Jennifer G. Wishart -- Self-regulation in children and young people with Down Syndrome / Sheila Glenn and Cliff Cunningham -- What matters most? A reflection on a quarter century of early childhood intervention / Robin Treloar and Susan Cairns -- Making inclusion work: improving educational outcomes for students with Down Syndrome in the regular classroom / Loretta R. Giorcelli -- Cognitive development and education: perspectives on Down Syndrome from a twenty-year research programme / Susan Buckley and Gillian Bird -- Broadening approaches to literacy education for young adults with Down Syndrome / Christina E. van Kraayenoord ... [et al.] -- Numeracy and money management skills in young adults with Down Syndrome / Sandra Bochner ... [et al.] -- Life styles of adults with Down Syndrome living at home / Anne Jobling and Monica Cuskelly -- Some studies involving individuals with Down Syndrome and their relevance to a quality of life model / Verity Bottroff ... [et al.] -- From autonomy to work placement / Anna Contardi -- An appreciative inquiry about adults with Down Syndrome / Susanne Muirhead -- Multiple perspectives of family life / Monica Cuskelly ... [et al.] -- Verbal-motor behaviour in persons with Down Syndrome / Brian K.V. Maraj ... [et al.].
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Living with Down Syndrome
2000Co-Authors: Sue BuckleyAbstract:People with Down Syndrome, whatever their age, are people first. They are people with abilities, strengths and weaknesses like everyone else. They may have additional needs but first they have the same needs as everyone else of their age group. The quality of health care, education and community support provided to children and adults with Down Syndrome makes a real difference to their progress throughout life. This module provides an introduction to all the issues that need to be addressed to enable individuals with Down Syndrome, and their families, to enjoy full and happy lives within their communities. It offers an overview of the development of individuals with Down Syndrome from infancy to adult life. It also provides a summary of the causes of Down Syndrome, the incidence and prevalence of the condition, life expectancy and associated education and health care needs. Further modules in this series address each of these issues in detail.
Brian G Skotko - One of the best experts on this subject based on the ideXlab platform.
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self perceptions from people with Down Syndrome
American Journal of Medical Genetics Part A, 2011Co-Authors: Brian G Skotko, Susan P Levine, Richard GoldsteinAbstract:This study asks people with Down Syndrome, ages 12 and older, about their self-perception so that their information could be shared with new and expectant parents of children with Down Syndrome. We analyzed valid and reliable survey instruments from 284 people with Down Syndrome on the mailing lists of six non-profit Down Syndrome organizations around the country. Among those surveyed, nearly 99% of people with Down Syndrome indicated that they were happy with their lives; 97% liked who they are; and 96% liked how they look. Nearly 99% people with Down Syndrome expressed love for their families, and 97% liked their brothers and sisters. While 86% of people with Down Syndrome felt they could make friends easily, those with difficulties mostly had isolating living situations. A small percentage expressed sadness about their life. In our qualitative analysis, people with Down Syndrome encouraged parents to love their babies with Down Syndrome, mentioning that their own lives were good. They further encouraged healthcare professionals to value them, emphasizing that they share similar hopes and dreams as people without Down Syndrome. Overall, the overwhelming majority of people with Down Syndrome surveyed indicate they live happy and fulfilling lives.
