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

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Dutch-French research shows that Optical Genome Mapping (OGM) detects abnormalities in chromosomes and DNA very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as they describe in two proof-of-concept studies published in the American Journal of Human Genetics.

8 Jul 2021

IU School of Medicine wins $30 million NIA funding to study Alzheimer’s disease and related dementias

National Centralized Repository for Alzheimer's Disease and Related Dementias grant has been renewed for another five years with funding expected to total $30 million from the National Institute on Aging (NIA), within the National Institutes of the Health.

29 Jun 2021

Study reveals risk factors associated with COVID-19 outcomes for people with IDD

A study of nearly 550 adults with intellectual and developmental disabilities receiving residential services in New York City found that age, larger residential settings, Down syndrome and chronic kidney disease were the most common risk factors for COVID-19 diagnosis, and heart disease was most associated with COVID-19 deaths.

14 Jun 2021

A single blood-based biomarker can help indicate underlying neurodegeneration

Levels of a protein called neurofilament light chain (NfL) in the blood can identify those who might have neurodegenerative diseases such as Down's syndrome dementia, motor neuron disease (ALS) and frontotemporal dementia, when clinical symptoms are not definitive

7 Jun 2021

In California, nursing home owners can operate after they’re denied a license

The pandemic has highlighted poor care in America’s nursing homes, where nearly 175,000 people have died of covid-19 — a third of all deaths from the disease nationwide.

28 May 2021

High seroprevalence in Peruvian population recovering from SARS-CoV-2 infection

By the middle of 2020, Iquitos, Peru, had the highest number of SARS-CoV-2 antibodies in the world. Despite natural immunity, the city experienced a second coronavirus wave, with reinfections possibly owing to the P.1 variant.

22 May 2021

How schools can help kids heal after the pandemic’s uncertainty

Kai Humphrey, 9, has been learning from home for more than a year. He badly misses his Washington, D.C., elementary school, along with his friends and the bustle of the classroom.

10 May 2021

High-powered MRI detects subtle differences in the hippocampus of people with Down syndrome

Using ultra-high field magnetic resonance imaging (MRI) to map the brains of people with Down syndrome (DS), researchers from Case Western Reserve University, Cleveland Clinic, University Hospitals and other institutions detected subtle differences in the structure and function of the hippocampus--a region of the brain tied to memory and learning.

29 Apr 2021

New tool helps measure communication development in youth with Down syndrome

Expressive language sampling (ELS) is a useful tool for measuring communication development in youth with Down syndrome, a new multi-site study has found.

8 Apr 2021

Study shows stronger link between Down syndrome and acute myeloid leukemia

A new large-scale study led by UC Davis Health and UC San Francisco researchers assessed the risks of leukemia in children with Down syndrome.

7 Apr 2021

Families with sick kids on Medicaid seek easier access to out-of-state hospitals

Three-year-old Elizabeth Zakutansky was born with a rare genetic condition that causes multiple seizures. Her neurologist, a top expert on treating her condition, practices at Lurie Children's Hospital of Chicago, less than an hour's drive from the Zakutanskys' home in Hobart, Indiana. Her parents would like her to get all her care there.

5 Apr 2021

Metabolic dysfunction found in mouse models of neurodevelopmental disorders

Mouse models of neurodevelopmental disorders possess unique, sex-specific metabolic dysfunctions, according to a new study in eNeuro.

1 Apr 2021

Study reveals reason behind high risk of leukemia in children with Down syndrome

Children with Down syndrome are 20-times more likely to develop acute lymphocytic leukemia (ALL) and 150-times more likely to develop acute myeloid leukemia (AML) compared to their typical peers.

31 Mar 2021

Sargramostim drug can also improve memory in people with mild-to-moderate Alzheimer's disease

A new study suggests that Sargramostim, a medication often used to boost white blood cells after cancer treatments, is also effective in treating and improving memory in people with mild-to-moderate Alzheimer's disease.

24 Mar 2021

Study investigates the prevalence of eye disease in adults with Down syndrome

Drs. Dimitrios Karamichos and Melissa Petersen at The University of North Texas Health Science Center at Fort Worth, are teaming with DownSyndrome Achieves (DSA) Biobank in Ohio to find clues about Keratoconus Dystrophy.

11 Mar 2021

Human cerebral organoid model to screen drugs for treatment of Creutzfeldt-Jakob disease

Approximately two years after establishing a human cerebral organoid system to study Creutzfeldt-Jakob disease (CJD), National Institutes of Health researchers have further developed the model to screen drugs for potential CJD treatment.

9 Mar 2021

Push is on for states to ban organ transplant discrimination

Griffin Dalrymple is an energetic 7-year-old who loves going to school in Eureka, Montana. But two years ago, the boy described by his mother, Jayci, as a "ball of fire" was suddenly knocked back by severe bacterial pneumonia that hospitalized him for two weeks.

8 Mar 2021

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