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

Hypoglossal nerve stimulation offers hope for pediatric Down syndrome patients with OSA

While Obstructive Sleep Apnea (OSA) affects about five percent of the general pediatric population, 80 percent of children with Down syndrome experience OSA. Continual OSA results in poor health, including disruptions to cognitive development and functioning, leading physician-researchers from Mass General Brigham to investigate better methods to treat these patients as early as possible to maximize their health outcomes.

12 Apr 2024

JAX researchers develop a powerful platform to study human health conditions

In humans, the exact same mutation in a specific gene can produce widely different outcomes. It's a bit like adding the same amount of salt to different recipes-;the effect on the finished dish can be quite different, depending on the mix of other ingredients.

3 Apr 2024

Study reveals protein structure similarities in Alzheimer's and Down syndrome

More than 90% of people with Down syndrome, the most common chromosomal disorder in humans and the most frequent genetic cause of intellectual disability, are diagnosed with Alzheimer's disease by ages 55-60.

29 Mar 2024

From China to Uzbekistan - United for Women’s Wellness on IWD

On the occasion of International Women's Day (IWD), BGI Genomics interview Wang Leilei, a trailblazing blind model, and Viktoriya Tsay, an Uzbek advocate of women’s health. Their stories stich a cross-cultural narrative of nurturing the nuance of women’s wellness worldwide.

From BGI Genomics 6 Mar 2024

Historic DNA analysis identifies Down and Edwards syndromes in ancient humans

By analyzing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains.

20 Feb 2024

Speech Accessibility Project starts recruitment of U.S. and Puerto Rican stroke survivors

The Speech Accessibility Project has begun recruiting U.S. and Puerto Rican adults who have had a stroke.

2 Feb 2024

Researchers uncover a gene that causes heart defects in Down syndrome

Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21.

24 Jan 2024

Study finds reduction in mortality rate among children born with Down syndrome and heart defect

Since 1990, the mortality rate for children born with Down syndrome and a congenital heart defect has more than halved.

17 Jan 2024

Ancient DNA reveals first prehistoric cases of Turner and Jacob's syndromes

Ancient DNA reveals first prehistoric cases of Turner and Jacob's syndromes, with new technique enhancing chromosome analysis

13 Jan 2024

Paternal sperm microRNAs also play a role in offspring health

A recent study has reported that changes in mice sperm microRNAs brought about by aging may affect the growth and development of offspring.

12 Jan 2024

Speech Accessibility Project expands to include ALS patients in U.S. and Puerto Rico

The Speech Accessibility Project has expanded its recruitment and is inviting U.S. and Puerto Rican adults living with amyotrophic lateral sclerosis to participate.

5 Jan 2024

Enlarged perivascular spaces in infancy associated with sleep problems and autism risk

Throughout the day and night, cerebrospinal fluid (CSF) pulses through small fluid-filled channels surrounding blood vessels in the brain, called perivascular spaces, to flush out neuroinflammation and other neurological waste.

2 Jan 2024

Gamma stimulation may improve memory and cognition in people with Alzheimer's disease

A surprising MIT study published in Nature at the end of 2016 helped to spur interest in the possibility that light flickering at the frequency of a particular gamma-band brain rhythm could produce meaningful therapeutic effects for people with Alzheimer's disease.

20 Dec 2023

Study finds people with cognitive disabilities are less satisfied with health care

People with cognitive disabilities – like autism, attention deficit and memory loss – are less satisfied with their health care than those in the general population, according to a study published by a Rutgers researcher.

13 Dec 2023

Regular exercise can improve cognitive and physical, health of adults with Down syndrome

An exploratory study has shown that light, regular exercise can improve the cognitive, as well as physical, health of adults with Down syndrome.

29 Nov 2023

RNA-based therapy shows promise for treating leukemia in animal models

Each year, about 13,000 people in Deutschland are diagnosed with leukemia, an umbrella term that encompasses various forms of blood cancer.

27 Nov 2023

Non-invasive genetic test for fetal DNA sequencing developed

A team of investigators from Massachusetts General Hospital (MGH), Brigham and Women's Hospital (BWH), and the Broad Institute of MIT and Harvard have developed a non-invasive genetic test that can screen the blood of pregnant individuals to survey all genes for fetal DNA sequence variants.

22 Nov 2023