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 Complications

Down Syndrome Management

Down Syndrome Epidemiology

Down Syndrome and Leukemia

Down Syndrome Research

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

Down Syndrome and Other Diseases

Down Syndrome History

Down Syndrome in Society

Down Syndrome Symptoms

Down Syndrome Screening

Latest Down Syndrome News and Research

Gene expression maps explain why diseases often occur together

This study reveals how gene expression patterns uncover molecular pathways linking comorbidities, enhancing treatment strategies for overlapping diseases.

5 Sep 2025

Faster progression to severe diabetes observed in people with learning disabilities

People with learning disabilities progress faster to severe type 2 diabetes and are at greater risk of dying from their condition than people without these disabilities, suggests research published in the open access journal BMJ Open Diabetes Research & Control.

2 Sep 2025

Researchers reveal how diseases interact at the genetic level

2 Sep 2025

Women with Down syndrome show more advanced Alzheimer's signs at diagnosis

According to research by the University of California, Irvine, women with Down syndrome have more advanced signs of Alzheimer's disease than men do at the average age of diagnosis, which is the same for both sexes.

12 Aug 2025

Alzheimer’s risk factors look different for men and women

Research on Alzheimer's risk factors shows significant sex differences, with implications for diagnosis and treatment in early-onset and late-onset cases.

6 Aug 2025

Hypoglossal nerve stimulator shows promise for treating sleep apnea in children with Down syndrome

Sleep apnea, or difficulty breathing at night, is common among children with Down syndrome-affecting up to 80% compared to just 5% of the general pediatric population.

5 Aug 2025

Johns Hopkins uncovers protein's unexpected role in brain signaling

Researchers at Johns Hopkins Medicine say they unexpectedly found new information about a protein's special role in getting brain cells to communicate at the right time and place in experiments with genetically engineered mice.

4 Aug 2025

Proteome imbalance from aneuploidy linked to mitochondrial dysfunction

It has been known for several years that abnormal chromosome numbers lead to protein imbalances in the affected cells. Researchers at RPTU have now investigated the detailed effects of such imbalances.

27 Jun 2025

Study finds high levels of iron in the brains of people diagnosed with Down syndrome and Alzheimer's

Scientists at the USC Leonard Davis School of Gerontology have discovered a key connection between high levels of iron in the brain and increased cell damage in people who have both Down syndrome and Alzheimer's disease.

19 Jun 2025

New QR4 model identifies hidden risk factors in cardiovascular disease

Collaborative research, led from the University of Oxford and published today in Nature Medicine, has developed a new tool called QR4 that more accurately predicts an individual's 10-year risk of cardiovascular diseases, like heart disease and stroke, particularly identifying high-risk patients that current prediction tools miss.

9 May 2025

Study finds increased risk of age-related cardiovascular diseases in individuals with Down syndrome

Because life expectancy for individuals with Down syndrome has increased dramatically, investigators assessed the risk of age-related cardiovascular diseases in this population.

7 May 2025

Brain stimulation at 40Hz boosts memory and neurogenesis in Down syndrome mice

Study provides new evidence that sensory stimulation of gamma-frequency brain rhythm may promote broad-based restorative neurological health response.

25 Apr 2025

Children with chronic conditions face higher RSV hospitalization risk

Young children with chronic conditions are more likely to be hospitalized for respiratory syncytial virus (RSV) than healthy children, according to a new study.

25 Apr 2025

Researchers simulate protein structures behind learning and memory

Our brain's remarkable ability to form and store memories has long fascinated scientists, yet most of the microscopic mechanisms behind memory and learning processes remain a mystery.

16 Apr 2025

Immigration crackdowns disrupt the caregiving industry. Families pay the price.

Alanys Ortiz reads Josephine Senek's cues before she speaks. Josephine, who lives with a rare and debilitating genetic condition, fidgets her fingers when she's tired and bites the air when something hurts.

4 Apr 2025

Blood-brain barrier dysfunction and inflammation linked to Down syndrome Regression Disorder

A new research study led by Jonathan D. Santoro, MD, Director of the Neuroimmunology Program at Children's Hospital Los Angeles, shows evidence of dysfunction of the blood-brain barrier and inflammation in the central nervous system in individuals with Down syndrome Regression Disorder (DSRD).

14 Mar 2025

Non-invasive 40Hz gamma stimulation could help fight Alzheimer’s

A decade after scientists in The Picower Institute for Learning and Memory at MIT first began testing whether sensory stimulation of the brain's 40Hz "gamma" frequency rhythms could treat Alzheimer's disease in mice, a growing evidence base supporting the idea that it can improve brain health-in humans as well as animals-has emerged from the work of labs all over the world.

3 Mar 2025