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

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

HIIT helps achieve critical health outcomes for individuals with Down syndrome

Incorporating high-intensity interval training, or HIIT, into exercise programs for individuals with Down syndrome may help achieve critical health outcomes in a more time-efficient manner, according to an article written by researchers at the University of Georgia and Kennesaw State University.

4 Aug 2020

Newly discovered chemical compound shows potential to become treatment for brain disorders

Researchers at IIT-Istituto Italiano di Tecnologia (Italian Institute of Technology) discovered a novel chemical compound, which has the potential to became a new drug for the treatment of core symptoms of brain disorders like Down syndrome and autism.

11 Jul 2020

UMSOM researchers identify how certain gene mutations cause ALS

Researchers at the University of Maryland School of Medicine have identified how certain gene mutations cause amyotrophic lateral sclerosis, also known as Lou Gehrig's disease.

10 Jun 2020

NIH-funded researchers to assess drugs prescribed to treat COVID-19 in children

Researchers funded by the National Institutes of Health have launched an effort to evaluate drugs prescribed to treat COVID-19 in infants, children and adolescents across the country. The study leverages an existing clinical trial that examines drugs that are prescribed off-label to children for a variety of medical conditions.

10 Jun 2020

New studies provide insights into DNA crossovers in egg and sperm cells

In the famous words of movie character Forrest Gump, "Life is like a box of chocolates; you never know what you're gonna get."

4 Jun 2020

How COVID-19 affects people with Down Syndrome

A new study published in June 2020 on the preprint online server medRxiv reports on the increased risk of COVID-19 in Down Syndrome (DS) and certain characteristic features that are found in this population segment.

3 Jun 2020

Study analyzes cancer diagnosis in children with birth defects

Scientific studies suggest that children with birth defects are at increased risk of cancer. However, it has not been assessed whether the type of cancer, the age at which they are diagnosed or the extent of cancer spread at the time of diagnosis, is different for children with birth defects compared to children without birth defects.

29 May 2020

New therapeutic possibilities for treating intellectual disability in Down syndrome

A team of researchers has studied the neural basis of intellectual disability in mice with Down syndrome and has discovered that the neural networks of brain circuits relevant to memory and learning are over-activated and that the connectivity of these circuits is poor.

5 May 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

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

HIIT helps achieve critical health outcomes for individuals with Down syndrome

Newly discovered chemical compound shows potential to become treatment for brain disorders

UMSOM researchers identify how certain gene mutations cause ALS

NIH-funded researchers to assess drugs prescribed to treat COVID-19 in children

New studies provide insights into DNA crossovers in egg and sperm cells

How COVID-19 affects people with Down Syndrome

Study analyzes cancer diagnosis in children with birth defects

New therapeutic possibilities for treating intellectual disability in Down syndrome

New mathematical model can help explain why so many pregnancies and IVF attempts fail

Why do so many pregnancies and in vitro fertilization attempts fail?

Modifiable risk factors could play important role in Alzheimer's disease, study finds

The Prospects of Semaglutide for Treatment of Type 2 Diabetes Patients

Discovering a new role for a protein that could cause breast cancer to spread to the lungs

How do low levels of oxygen damage the brain?

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

Newsletters you may be interested in