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Co-research: Down syndrome research by the experts
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Down Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is the most frequently occurring chromosomal abnormality in humans and affecting between 1 in 400-1500 babies born in different populations, depending on maternal age, and prenatal screening schedules (1-6).DS is the common genetic cause of intellectual disabilities worldwide and large numbers of patients throughout the world encounter various additional health issues ...
Research on Down Syndrome (DS)
PubMed Search Results for all articles with keyword "Down syndrome" DS Research from Other Consortium Members. Some members of the DS Consortium also conduct research on DS, while others focus on providing services and support to people with DS and their families. Visit the following DS Consortium member websites to learn about their DS-related ...
Opportunities, barriers, and recommendations in down syndrome research
Down syndrome (DS) is the most common chromosomal disorder in humans, affecting about one of every 675 births [ 1 ]. Underlying the diverse spectrum of phenotypes seen in people with DS is an extra copy of chromosome 21 (Chr21), or trisomy 21 (T21), which results in overexpression of many genes and changes in the proteome [ 2 ].
Down's syndrome
Down's syndrome is the most common autosomal abnormality worldwide, affecting around 1 in 1000 live births (World Health Organization, 2018).In 2011, it was estimated that there were 37 000 people with the condition in England and Wales, with a population prevalence of 0.66 per 1000 (Wu and Morris, 2013).Down's syndrome accounts for one-third of cases of severe learning disability.
Development of Down Syndrome Research Over the Last Decades-What
A Paradigm Shift in DS Research: From a Group- to Individual-Level Approach. DS research dates back to 1866, when the English physician John Langdon Down systematically described the syndrome for the first time (9, 10).In addition to intellectual disability (ID), he chronicled a distinct physical phenotype of individuals with DS, conjecturing that they were "born to the same family" (page ...
Down Syndrome
To advance research in community involvement, the National Institutes of Health (NIH) has established the Down Syndrome Consortium, a DS registry (DS-Connect), 54 and a research review group.
Down syndrome: insights into autoimmune mechanisms
Down syndrome, the most common chromosomal condition (approximately 1 in 700 births), is associated with an increased risk of common autoimmune diseases, including rheumatic diseases 1. For ...
Immune dysregulation in Down syndrome
Down syndrome, also known as trisomy 21, is a genetic disorder caused by an extra copy of around 200 genes from chromosome 21. Individuals with Down syndrome show developmental defects that affect ...
Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, involving trisomy ...
Addressing challenges in health care and research for people with Down
Individuals with Down syndrome have seen improvements in quality of life and life expectancy in recent decades due to health-care and research advancements, along with greater societal participation. However, there are persistent disparities in health outcomes stemming from insufficient awareness and training about Down syndrome among physicians, professionals, families, and other stakeholders ...
Down's syndrome
Abstract. Down's syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting ...
Down syndrome
Down syndrome (DS) is the most common genomic disorder of intellectual disability and is caused by trisomy of Homo sapiens chromosome 21 (HSA21). The eponym of the syndrome is from Down, who described the clinical aspects of the syndrome in 1866 (REF. 1).The DS phenotype involves manifestations that affect multiple bodily systems, in particular the musculoskeletal, neurological and ...
Choroid plexus defects in Down syndrome brain organoids enhance ...
Down syndrome (DS) is a genomic disorder with an incidence of 1 in 700 to 1000 live births (), which is caused by the presence of a supernumerary chromosome 21 (HSA21).The extra copy of HSA21 (trisomy 21) results in neuropathological changes such as disorganized cortical lamination (), altered cerebellar organization and function (), and a hypocellular hippocampal dentate gyrus ().
Down syndrome
Down syndrome (DS) is a genetic disorder caused by trisomy 21, the presence of a supernumerary chromosome 21, which results in physical and neurocognitive alterations. This Primer reviews the ...
Medical Care of Adults With Down Syndrome : A Clinical Guideline
4 Down Syndrome Clinic and Research Center, Kennedy Krieger Institute, Baltimore, Maryland. 5 Johns Hopkins School of Medicine, Baltimore, Maryland. ... Importance Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique ...
Restoring a key hormone could help people with Down syndrome
A hormone that boosts memory in mice may hold promise for adults with Down syndrome. Halfpoint/iStock. New research with mice—and a small human trial—raises the prospect of treatments that could improve learning difficulties in people with Down syndrome. Though still preliminary, the work may represent a step toward a goal that has eluded ...
"Down syndrome: an insight of the disease"
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we ...
Study suggests new cause of Down syndrome: cells linked to aging
Provocative new findings suggest a surprising cause of Down syndrome: cells linked to aging. Neural progenitor cells derived from stem cells of a person with Down syndrome. Courtesy Hiruy Meharena ...
Down Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before ...
Frontiers
Introduction. Down syndrome (DS) is the most common neurodevelopmental disorder with known genetic causes, and an incidence of 1 in 691 live births ().This suggests that ~417,000 people with DS live in Europe ().Currently, an expansive menu of prenatal diagnostic methods for DS is spreading worldwide, advancing the diagnosis of DS from postnatal to prenatal ().
Management of Down Syndrome-Associated Leukemias
Importance Down syndrome (DS), caused by an extra copy of material from chromosome 21, is one of the most common genetic conditions. The increased risk of acute leukemia in DS (DS-AL) has been recognized for decades, consisting of an approximately 150-fold higher risk of acute myeloid leukemia (AML) before age 4 years, and a 10- to 20-fold higher risk of acute lymphoblastic leukemia (ALL ...
Down Syndrome
Down syndrome was first described by an English physician, John Langdon Down, in 1866, but its association with chromosome 21 was established almost 100 years later by Dr. Jerome Lejeune in Paris. It is the presence of all or part of the third copy of chromosome 21 that causes Down syndrome, the most common chromosomal abnormality occurring in humans.[1] It is also found that the most ...
Down Syndrome News, Articles and Research
Down Syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such ...
Aging in Down Syndrome: Latest Clinical Advances and Prospects
In Hendrix et al.'s (2021) paper, the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study reported early findings from a natural history study of adults with DS in the USA. The LIFE-DSR study consists of 11 sites, who are collectively recruiting 270 individuals with DS over the age of 25.
PDF Research Summary: A Survey about Mental Health for People with Down
We used a co-research model, which is where people who are studied also help with research. In our project, co-researchers with Down syndrome were part of the research team to do equally important work on the research project. We all worked together to: • ask a research question about mental health • find answers with an online survey
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Down syndrome (DS) is the most frequently occurring chromosomal abnormality in humans and affecting between 1 in 400-1500 babies born in different populations, depending on maternal age, and prenatal screening schedules (1-6).DS is the common genetic cause of intellectual disabilities worldwide and large numbers of patients throughout the world encounter various additional health issues ...
PubMed Search Results for all articles with keyword "Down syndrome" DS Research from Other Consortium Members. Some members of the DS Consortium also conduct research on DS, while others focus on providing services and support to people with DS and their families. Visit the following DS Consortium member websites to learn about their DS-related ...
Down syndrome (DS) is the most common chromosomal disorder in humans, affecting about one of every 675 births [ 1 ]. Underlying the diverse spectrum of phenotypes seen in people with DS is an extra copy of chromosome 21 (Chr21), or trisomy 21 (T21), which results in overexpression of many genes and changes in the proteome [ 2 ].
Down's syndrome is the most common autosomal abnormality worldwide, affecting around 1 in 1000 live births (World Health Organization, 2018).In 2011, it was estimated that there were 37 000 people with the condition in England and Wales, with a population prevalence of 0.66 per 1000 (Wu and Morris, 2013).Down's syndrome accounts for one-third of cases of severe learning disability.
A Paradigm Shift in DS Research: From a Group- to Individual-Level Approach. DS research dates back to 1866, when the English physician John Langdon Down systematically described the syndrome for the first time (9, 10).In addition to intellectual disability (ID), he chronicled a distinct physical phenotype of individuals with DS, conjecturing that they were "born to the same family" (page ...
To advance research in community involvement, the National Institutes of Health (NIH) has established the Down Syndrome Consortium, a DS registry (DS-Connect), 54 and a research review group.
Down syndrome, the most common chromosomal condition (approximately 1 in 700 births), is associated with an increased risk of common autoimmune diseases, including rheumatic diseases 1. For ...
Down syndrome, also known as trisomy 21, is a genetic disorder caused by an extra copy of around 200 genes from chromosome 21. Individuals with Down syndrome show developmental defects that affect ...
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, involving trisomy ...
Individuals with Down syndrome have seen improvements in quality of life and life expectancy in recent decades due to health-care and research advancements, along with greater societal participation. However, there are persistent disparities in health outcomes stemming from insufficient awareness and training about Down syndrome among physicians, professionals, families, and other stakeholders ...
Abstract. Down's syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting ...
Down syndrome (DS) is the most common genomic disorder of intellectual disability and is caused by trisomy of Homo sapiens chromosome 21 (HSA21). The eponym of the syndrome is from Down, who described the clinical aspects of the syndrome in 1866 (REF. 1).The DS phenotype involves manifestations that affect multiple bodily systems, in particular the musculoskeletal, neurological and ...
Down syndrome (DS) is a genomic disorder with an incidence of 1 in 700 to 1000 live births (), which is caused by the presence of a supernumerary chromosome 21 (HSA21).The extra copy of HSA21 (trisomy 21) results in neuropathological changes such as disorganized cortical lamination (), altered cerebellar organization and function (), and a hypocellular hippocampal dentate gyrus ().
Down syndrome (DS) is a genetic disorder caused by trisomy 21, the presence of a supernumerary chromosome 21, which results in physical and neurocognitive alterations. This Primer reviews the ...
4 Down Syndrome Clinic and Research Center, Kennedy Krieger Institute, Baltimore, Maryland. 5 Johns Hopkins School of Medicine, Baltimore, Maryland. ... Importance Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique ...
A hormone that boosts memory in mice may hold promise for adults with Down syndrome. Halfpoint/iStock. New research with mice—and a small human trial—raises the prospect of treatments that could improve learning difficulties in people with Down syndrome. Though still preliminary, the work may represent a step toward a goal that has eluded ...
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we ...
Provocative new findings suggest a surprising cause of Down syndrome: cells linked to aging. Neural progenitor cells derived from stem cells of a person with Down syndrome. Courtesy Hiruy Meharena ...
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before ...
Introduction. Down syndrome (DS) is the most common neurodevelopmental disorder with known genetic causes, and an incidence of 1 in 691 live births ().This suggests that ~417,000 people with DS live in Europe ().Currently, an expansive menu of prenatal diagnostic methods for DS is spreading worldwide, advancing the diagnosis of DS from postnatal to prenatal ().
Importance Down syndrome (DS), caused by an extra copy of material from chromosome 21, is one of the most common genetic conditions. The increased risk of acute leukemia in DS (DS-AL) has been recognized for decades, consisting of an approximately 150-fold higher risk of acute myeloid leukemia (AML) before age 4 years, and a 10- to 20-fold higher risk of acute lymphoblastic leukemia (ALL ...
Down syndrome was first described by an English physician, John Langdon Down, in 1866, but its association with chromosome 21 was established almost 100 years later by Dr. Jerome Lejeune in Paris. It is the presence of all or part of the third copy of chromosome 21 that causes Down syndrome, the most common chromosomal abnormality occurring in humans.[1] It is also found that the most ...
Down Syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such ...
In Hendrix et al.'s (2021) paper, the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study reported early findings from a natural history study of adults with DS in the USA. The LIFE-DSR study consists of 11 sites, who are collectively recruiting 270 individuals with DS over the age of 25.
We used a co-research model, which is where people who are studied also help with research. In our project, co-researchers with Down syndrome were part of the research team to do equally important work on the research project. We all worked together to: • ask a research question about mental health • find answers with an online survey