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 as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.

What is Down Syndrome?

Down syndrome or Down's syndrome, is a congenital condition that usually causes some degree of learning disability and is typically characterized by certain physical features.

Down Syndrome Symptoms

Down Syndrome Complications

Down Syndrome Screening

Down Syndrome Management

Down Syndrome Epidemiology

Down Syndrome and Other Diseases

Down Syndrome History

Down Syndrome in Society

Down Syndrome Research

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

Pioneering study shows promising results for cognitive treatment in Down syndrome

The ICOD (Improving Condition in Down syndrome) project, a pioneering study in addressing the cognitive difficulties associated with Down syndrome, has demonstrated the safety of treatment with the molecule AEF0217, developed by the French biotech Aelis Farma, as well as its effectiveness in improving cognitive function in these people.

17 Dec 2024

PCORI funds $156 million for new patient-centered comparative clinical effectiveness research

The Patient-Centered Outcomes Research Institute (PCORI) has approved funding awards totaling more than $156 million for new patient-centered comparative clinical effectiveness research (CER), as well as research to improve methods and strengthen the science of engagement in CER.

3 Dec 2024

Pandemic linked to 16% rise in babies born with heart defects

The proportion of babies born with a congenital heart abnormality increased by 16 per cent after the first year of the pandemic, according to research at City St George's, University of London and published today in Ultrasound in Obstetrics and Gynecology.

15 Nov 2024

New study links genetic mosaicism to lower Alzheimer’s risk in adults with Down syndrome

Study finds mosaicism in Down syndrome reduces Alzheimer's risk, providing new insights into genetic influences on cognitive decline and dementia progression.

8 Nov 2024

International experts propose revised Alzheimer's disease definitions

Today, Prof. Howard Feldman presented revised diagnostic criteria for Alzheimer's disease at the Clinical Trials on Alzheimer's Disease (CTAD) Conference in Madrid on behalf of the International Working Group (IWG).

1 Nov 2024

Speech recognition technology shows significant gains for people with dysarthria

As Mark Hasegawa-Johnson combed through data from his latest project, he was pleasantly surprised to uncover a recipe for Eggs Florentine. Sifting through hundreds of hours of recorded speech will unearth a treasure or two, he said.

27 Sep 2024

Why children with Down’s syndrome are predisposed to developing leukaemia

The study uncovers mechanisms linking Down syndrome to leukemia, emphasizing the role of oxidative stress and genetic alterations in fetal blood development.

26 Sep 2024

Study uncovers genetic changes linked to leukemia risk in people with Down's syndrome

People with Down's syndrome face a higher risk of developing Leukemia. Now researchers from the University of Copenhagen and Stanford University explain why, by identifying specific changes in blood cells of people with Down's syndrome.

25 Sep 2024

Coordinated health teams may help improve outcomes for children with Trisomy 21 and heart conditions

A coordinated, multidisciplinary health care team to address the specific physical, psychological and developmental needs of children with Trisomy 21, or Down syndrome, and congenital heart disease may help children with these conditions lead longer and more productive lives, according to a new scientific statement from the American Heart Association.

13 Sep 2024

$1.2 million NIH grant may help unravel the interplay between Down syndrome and myeloid leukemia

A four-year, $1.2 million grant from the National Cancer Institute of the National Institutes of Health may help researchers find new clues to the interplay between Down syndrome (DS) and myeloid leukemia (ML).

11 Sep 2024

Early embryos are prone to chromosomal copying errors, new research shows

A new discovery by researchers at the RIKEN Center for Biosystems Dynamics (BDR) in Japan upends decades of assumptions regarding DNA replication.

28 Aug 2024

Lecanemab effectively targets amyloid plaques in people with Down syndrome, study finds

People with Down syndrome are likely to develop Alzheimer's disease at a young age, with autopsy studies showing that by age 40 years, the brains of individuals with Down syndrome have amyloid plaques.

19 Aug 2024

Researchers identify distinct molecular profiles in Down syndrome

A new study published in Nature Communications by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports a significant breakthrough.

7 Aug 2024

Aging aggravates liver fibrosis in Down Syndrome, new study finds

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 12, entitled, "Aging exacerbates oxidative stress and liver fibrosis in an animal model of Down Syndrome."

10 Jul 2024

Neanderthal child with Down syndrome reveals ancient caregiving practices

Research reveals that Neanderthals provided extensive caregiving, allowing a child with Down syndrome and congenital ear pathology to survive for at least six years, highlighting their complex social structures.

1 Jul 2024

Study documents the first case of Down syndrome in Neandertals

A new study published by an international multidisciplinary team of researchers including faculty at Binghamton University, State University of New York, documents the first case of Down syndrome in Neandertals and reveals that they were capable of providing altruistic care and support for a vulnerable member of their social group.

26 Jun 2024

Physical activity and cognitive training can improve mood for adults with Down's syndrome

A new study has discovered that physical activity and cognitive training can improve levels of life satisfaction and mood for adults with Down's syndrome.

13 Jun 2024

Study confirms strong barrier preventing chronic wasting disease transmission to humans

A new study of prion diseases, using a human cerebral organoid model, suggests there is a substantial species barrier preventing transmission of chronic wasting disease (CWD) from cervids-;deer, elk and moose-;to people.

17 May 2024

Understanding public perception of polygenic embryo screening for IVF

Three out of four U.S. adults support the use of emerging technologies that estimate a future child's likelihood of developing health conditions influenced by multiple genes -; such as diabetes, heart disease, and depression -; before an embryo is implanted during in vitro fertilization (IVF), according to a new public opinion survey led by researchers at Harvard Medical School.

15 May 2024

Study sheds light on challenges faced by caregivers of children with genetic conditions

When it comes to improving the lives of children with genetic conditions, medical research often focuses solely on the children. But there is an equally important population in need of research that a faculty member at the University of Colorado Department of Medicine is highlighting -; the caregivers.

10 May 2024

Down Syndrome

Overview

Down Syndrome Symptoms

Down Syndrome Complications

Down Syndrome Screening

Feature Articles

Down Syndrome Management

Down Syndrome Epidemiology

Down Syndrome and Other Diseases

Down Syndrome History

Down Syndrome in Society

Down Syndrome Research

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

Pioneering study shows promising results for cognitive treatment in Down syndrome

PCORI funds $156 million for new patient-centered comparative clinical effectiveness research

Pandemic linked to 16% rise in babies born with heart defects

New study links genetic mosaicism to lower Alzheimer’s risk in adults with Down syndrome

International experts propose revised Alzheimer's disease definitions

Speech recognition technology shows significant gains for people with dysarthria

Why children with Down’s syndrome are predisposed to developing leukaemia

Study uncovers genetic changes linked to leukemia risk in people with Down's syndrome

Coordinated health teams may help improve outcomes for children with Trisomy 21 and heart conditions

$1.2 million NIH grant may help unravel the interplay between Down syndrome and myeloid leukemia

Early embryos are prone to chromosomal copying errors, new research shows

Lecanemab effectively targets amyloid plaques in people with Down syndrome, study finds

Researchers identify distinct molecular profiles in Down syndrome

Aging aggravates liver fibrosis in Down Syndrome, new study finds

Neanderthal child with Down syndrome reveals ancient caregiving practices

Study documents the first case of Down syndrome in Neandertals

Physical activity and cognitive training can improve mood for adults with Down's syndrome

Study confirms strong barrier preventing chronic wasting disease transmission to humans

Understanding public perception of polygenic embryo screening for IVF

Study sheds light on challenges faced by caregivers of children with genetic conditions

Precision in every drop: Inside Hamilton’s syringe technology

Exploring the Future of Neuroscience Drug Discovery

Genomic conservation in Thailand's mangroves

Down Syndrome

Overview

Feature Articles

Down Syndrome Management

Down Syndrome Epidemiology

Down Syndrome and Other Diseases

Down Syndrome History

Down Syndrome in Society

Down Syndrome Research

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

Precision in every drop: Inside Hamilton’s syringe technology

Exploring the Future of Neuroscience Drug Discovery

Genomic conservation in Thailand's mangroves

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