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

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis.

10 May 2023

Researchers shed light on the genetics behind facial changes in Down syndrome

Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a mouse model of Down Syndrome.

26 Apr 2023

An extra gene causes excessive inhibitory connections in the neocortex of Down syndrome mouse models

An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.

21 Apr 2023

COVID-19's hidden toll: Study reveals greater mortality disparities for people with intellectual disabilities

Research examines the impact of the COVID-19 pandemic on people with intellectual disabilities in the Netherlands. It shows that the mortality risk from COVID-19 was higher in people with intellectual disabilities than in the general population, and overall mortality disparities were further exacerbated during the first 2 years of the pandemic.

18 Apr 2023

People with Down syndrome are living longer, but the health system still treats many as kids

It took Samantha Lesmeister's family four months to find a medical professional who could see that she was struggling with something more than her Down syndrome.

17 Apr 2023

An extremely rare case report of rebound multi-system inflammatory syndrome in children

Researchers described the case report of an infant boy experiencing rebound MIS-C.

12 Apr 2023

Key memory receptor is localized to interneurons

A key receptor regulating memory formation has been localized to interneurons, according to a study with implications for drug development.

11 Apr 2023

Researchers discover and characterize a novel protein involved in tumor suppression mechanism

Understanding how cancer develops is critical for designing effective, personalized cancer therapies. Researchers have known for years that cancer begins with mutations in certain types of genes.

6 Apr 2023

New genetic animal model may inform potential therapeutic options for Down syndrome

National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be more similar to the changes seen in humans.

14 Mar 2023

Scientists identify the cause of leukemia in people with trisomy 21

People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukaemia (AML), an aggressive form of blood cancer.

10 Mar 2023

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Novel predictors of severe respiratory syncytial virus infections among infants below the age of one

Researchers examined predictors for hospitalization due to respiratory syncytial virus (RSV) infections to develop a clinical model for guiding immunization and prophylactic treatment of one-year-old infants against RSV infections.

3 Mar 2023

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

28 Feb 2023

Scientists identify mechanisms underlying autoimmunity in Down syndrome

Scientists at the Icahn School of Medicine at Mount Sinai in New York have identified which parts of the immune system go awry and contribute to autoimmune diseases in individuals with Down syndrome.

22 Feb 2023

Scientists illuminate the mechanisms that prevent p53 activation from triggering cancer cell death

Cancer is a disease driven by gene mutations. These mutated genes in cancer fall into two major categories: tumor suppressors and oncogenes.

13 Feb 2023

CHLA launches first clinical trial for Down syndrome regression disorder with $5.3 million NIH grant

Children's Hospital Los Angeles has launched the first clinical trial for Down syndrome regression disorder (DSRD), a rare and debilitating condition that affects adolescents and young adults with Down syndrome.

23 Jan 2023

What is the association between acute lymphoblastic leukemia and congenital cytomegalovirus infection?

Researchers evaluated the relationship between congenital cytomegalovirus (cCMV) infection and acute lymphoblastic leukemia (ALL).

11 Jan 2023

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics."

16 Dec 2022

Study finds altered spontaneous brain activity in people with Down syndrome

Researchers of the Faculty of Psychology, the Institute of Neurosciences and the Institute of Complex Systems of the University of Barcelona have identified, using functional magnetic resonance techniques, differences in the spontaneous activity of the brain in a resting state in people with Down syndrome (DS) compared to the general population. Also, these variations could be related to cognitive skills.

15 Dec 2022

What Germany’s coal miners can teach America about medical debt

Almost every day, Dr. Eckart Rolshoven sees the long shadow of coal mining in his clinic near the big brownstone church that dominates this small town in Germany's Saarland.

14 Dec 2022

Down Syndrome

Overview

Down Syndrome Symptoms

Down Syndrome Complications

Down Syndrome Screening