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

Study shows potential benefits of green tea extracts in Down syndrome

A new study led by Belgian and Spanish researchers published in Scientific Reports adds evidence about the potential benefits of green tea extracts in Down syndrome.

3 Mar 2021

Adults with Down syndrome more likely to die from COVID-19 than general population

A new study by an international team of researchers found that adults with Down syndrome are more likely to die from COVID-19 than the general population, supporting the need to prioritize vaccinating people with the genetic disorder.

22 Feb 2021

New partnership launches Down syndrome research biobank

Cincinnati Children's Hospital Medical Center has collaborated with DownSyndrome Achieves (DSA) to launch a research biobank, which serves as a central repository for biospecimens donated by individuals with Down syndrome and their immediate families.

22 Feb 2021

Woman’s right to disclosure of stillbirth could be achieved through a tort claim

As part of standard patient protocol, doctors inform women of the risks of pregnancy. But there is one exception to this standard: stillbirth.

29 Jan 2021

Pandemic sends a couple into indefinite long distance though just miles apart

Every Sunday afternoon, Suzan Mubarak keeps an eye on her phone. That is when her boyfriend will call to let her know he's outside her house for their weekly wave.

29 Jan 2021

Vanderbilt researcher proposes an explanatory paradigm for the cause of autism

A unifying explanation of the cause of autism and the reason for its rising prevalence has eluded scientists for decades, but a theoretical model published in the journal Medical Hypotheses describes the cause as a combination of socially valued traits, common in autism, and any number of co-occurring disabilities.

8 Jan 2021

Study: Prenatal screening in Europe has reduced the number of babies born with Down syndrome

The growth of prenatal screening in Europe has reduced the number of babies being born per year with Down syndrome (DS) by an average of 54%, according to a new study published in the European Journal of Human Genetics by researchers from Massachusetts General Hospital and international Down syndrome organizations.

18 Dec 2020

High error rates found in human egg cells

A new study has found that there is a high level of meiotic recombination failure in human immature egg cells (oocytes).

10 Dec 2020

New study finds link between gestational age and ADHD in children with Down syndrome

A new study by the UC Davis MIND Institute finds a connection between gestational age and attention deficit/hyperactivity disorder (ADHD) symptoms in children with Down syndrome.

4 Dec 2020

Experimental drug can reverse age-related memory decline in mice

Just a few doses of an experimental drug can reverse age-related declines in memory and mental flexibility in mice, according to a new study by UC San Francisco scientists.

1 Dec 2020

Study outlines a new role for pregnancy-associated plasma protein A in gestational diabetes

Laboratory research and analysis of epidemiological data by Silvia Corvera, MD, and Tiffany Moore Simas, MD, MPH, MEd, and colleagues show that low levels of a protein commonly seen in screening tests for chromosomal disorders during the first trimester of pregnancy is associated with adipose tissue remodeling, glucose resistance and gestational diabetes mellitus in pregnant women.

30 Nov 2020

Research can bring new possibilities for earlier diagnosis, preventive treatment of dementia

Researchers at Karolinska Institutet in Sweden have studied the incidence and regional distribution of Alzheimer's disease biomarkers in the brains of people with Down's syndrome.

23 Nov 2020

AI can help recognize individuals with congenital adrenal hyperplasia based on facial images

Researchers at the VISTA Center (Vision, Image, Speech and Text Analytics) at the USC Viterbi Information Sciences Institutealong with scholars at the Keck School of Medicine of USC and Children's Hospital Los Angeles have discovered strong correlations between facial morphology and congenital adrenal hyperplasia (CAH), a life-threatening genetic condition of the adrenal glands and one of the most common forms of adrenal insufficiency in children.

18 Nov 2020

NIH awards grant totaling $19.5M for Down syndrome research project

Scientists and data experts are joining forces to create the world's first centralized platform for Down syndrome researchers to share, access, and analyze data.

5 Nov 2020

Happiness neurotransmitter serotonin plays role in evolutionary expansion of the neocortex

During human evolution, the size of the brain increased, especially in a particular part called the neocortex.

23 Oct 2020

$109 million NIH grant awarded to expand Alzheimer's disease and Down syndrome research

The Alzheimer's Biomarkers Consortium - Down Syndrome, a multi-institution research team, co-led by members from the University of California, Irvine, has been awarded an unprecedented five-year, $109 million grant by the National Institutes of Health, to expand research on the biomarkers of Alzheimer's disease in adults with Down syndrome.

22 Oct 2020

Excess genetic exchanges impede the segregation of chromosomes into eggs

The exchange of DNA between chromosomes during the early formation of sperm and egg cells normally is limited to assure fertility.

8 Oct 2020

Study underscores value of Mass General’s online health tool about Down syndrome

A new software program effectively brings the expertise of Massachusetts General Hospital specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine.

8 Sep 2020

Fly brain structure governed by lineage-dependent repulsion mechanism between neurons

The brain's structure has columnar features, which are hypothesized to arise from nerve cells (neurons) stemming from the same parent cell, initially forming radial units. How exactly this process unfolds at the molecular level remains unexplained, however.

5 Sep 2020

Specific gene impairment may also protect people with Down syndrome

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.

6 Aug 2020

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

Study shows potential benefits of green tea extracts in Down syndrome

Adults with Down syndrome more likely to die from COVID-19 than general population

New partnership launches Down syndrome research biobank

Woman’s right to disclosure of stillbirth could be achieved through a tort claim

Pandemic sends a couple into indefinite long distance though just miles apart

Vanderbilt researcher proposes an explanatory paradigm for the cause of autism

Study: Prenatal screening in Europe has reduced the number of babies born with Down syndrome

High error rates found in human egg cells

New study finds link between gestational age and ADHD in children with Down syndrome

Experimental drug can reverse age-related memory decline in mice

Study outlines a new role for pregnancy-associated plasma protein A in gestational diabetes

Research can bring new possibilities for earlier diagnosis, preventive treatment of dementia

AI can help recognize individuals with congenital adrenal hyperplasia based on facial images

NIH awards grant totaling $19.5M for Down syndrome research project

Happiness neurotransmitter serotonin plays role in evolutionary expansion of the neocortex

$109 million NIH grant awarded to expand Alzheimer's disease and Down syndrome research

Excess genetic exchanges impede the segregation of chromosomes into eggs

Study underscores value of Mass General’s online health tool about Down syndrome

Fly brain structure governed by lineage-dependent repulsion mechanism between neurons

Specific gene impairment may also protect people with Down syndrome

Could a diet high in carbohydrates increase your risk of heart disease?

What makes viruses infectious?

Disinfectants could be helping bacteria to become resistant

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

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