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

COVID found to be the leading cause of death for people with intellectual and developmental disabilities

Authors of a new peer-reviewed paper have discovered that COVID was the leading cause of death for people with intellectual and developmental disabilities (IDD) in 2020.

13 Sep 2022

GnRH therapy could improve cognitive deficits in men with Down syndrome

Gonadotropin-releasing hormone (GnRH) therapy improves cognitive function in Down syndrome (DS) mouse models and male patients with DS, according to a new study.

1 Sep 2022

Study addresses food texture challenges in the life of children with Down syndrome

Children with Down syndrome prefer food with a crispy, oily mouthfeel and don't like brittle or gooey foods. But those preferences can lead to a less nutritious diet, according to Washington State University research published in the Journal of Texture Studies.

29 Aug 2022

Simple blood test can accurately detect Alzheimer's disease in people with Down syndrome

Around 80% of people with Down syndrome develop Alzheimer's disease, often when they are between 40 and 50 years old.

24 Aug 2022

Study gains new insights into heart and lung conditions in babies born with Down Syndrome

A study from RCSI University of Medicine and Health Sciences has gained new insights into changes in heart function and blood pressure in the lungs of babies born with Down Syndrome.

16 Aug 2022

Vaccines and monoclonal antibodies being developed for respiratory syncytial virus

A new study reviews recent advancements made in the development of RSV immunoprophylactic measures.

11 Aug 2022

Gen Zs with Down syndrome have high aspirations and a great zest for life, study reveals

Young adults living with Down syndrome have high aspirations and a great zest for life according to an Australian first study by researchers from The University of Queensland.

9 Aug 2022

Music could be a powerful tool to help mothers promote infant development

Professor Shannon de l'Etoile knows the impact of a mother's lullaby.

4 Aug 2022

Shared decision-making training program for nurses to support Down syndrome screening decisions

JMIR Publications recently published "Web-Based Training for Nurses on Using a Decision Aid to Support Shared Decision-making About Prenatal Screening: Parallel Controlled Trial" in JMIR Nursing which reported that in this study, these authors aimed to assess the impact of a shared decision-making (SDM) training program on nurses' intention to use a decision aid with pregnant women deciding on prenatal screening for Down syndrome.

29 Jul 2022

"Selfish chromosomes" explain why most human embryos die very early on, study suggests

New research by a scientist at the Milner Center for Evolution at the University of Bath suggests that "selfish chromosomes" explain why most human embryos die very early on. The study, published in PLoS, Biology, explaining why fish embryos are fine but sadly humans' embryos often don't survive, has implications for the treatment of infertility.

6 Jul 2022

Antiretroviral drug used to treat HIV ameliorates cognitive deficits in mouse model of Down syndrome

Lamivudine, a commonly-used antiretroviral drug for treating HIV, improves cognition in a mouse model of Down syndrome, according to the findings of a joint new study by researchers at the Centre for Genomic Regulation (CRG) and the IrsiCaixa AIDS Research Institute, a center jointly promoted by the "la Caixa" Foundation and the Department of Health of the Generalitat de Catalunya.

28 Jun 2022

Genetic screening results just got harder to handle under new abortion rules

Ann was 15 weeks pregnant with her fourth child when the results of her prenatal genetic test came back last August.

27 Jun 2022

AAP recommends University of Kentucky HDI resources for families of infants with Down syndrome

In a clinical report released on April 18, the American Academy of Pediatrics recommended resources administered by the University of Kentucky Human Development Institute (HDI) to pediatricians across the nation.

27 May 2022

The effectiveness of sotrovimab vs. molnupiravir in preventing severe COVID-19 outcomes in non-hospitalized high-risk COVID-19 adult patients

Researchers compared the efficacy of sotrovimab and molnupiravir in preventing severe COVID-19 outcomes among non-hospitalized and high-risk COVID-19 patients across England.

25 May 2022

Heart complications uncommon for children and young adults after SARS-CoV-2 infection

Heart complications are uncommon, yet treatable for children and young adults after COVID-19 disease or SARS-CoV-2 infection, according to a new scientific statement from the American Heart Association that details what has been learned about how to treat, manage and even prevent cardiovascular complications from the SARS-CoV-2 virus in youth.

12 Apr 2022

UW Medicine scientists contribute to the publication of first complete, gapless genome sequence

UW Medicine genome scientists were among the leading contributors to the publication of the first complete, gapless sequence of a human genome announced this week by the National Human Genome Research Institute.

31 Mar 2022

Exploring the drivers of Catatonia and Acute Regression in Down Syndrome

When clinical psychiatrist and University of Queensland researcher Dr Cathy Franklin saw her first patient with Catatonia and Acute Regression in Down Syndrome in 2009, she was shocked.

22 Mar 2022

First genetic rat model of Down syndrome offers better understanding of the condition

In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.

14 Mar 2022

People with congenital heart defect hospitalized for COVID-19 are at highest risk of severe illness

People with a congenital heart defect who were hospitalized with COVID-19 infection were at higher risk for severe illness or death than those without a heart defect, according to new research published today in the American Heart Association's flagship, peer-reviewed journal Circulation.

7 Mar 2022

Inside the tactical tug of war over the controversial Alzheimer’s drug

The drug industry, patient advocates, and congressional Republicans have all attacked federal officials' decision to decline routine Medicare coverage for a controversial Alzheimer's drug.

16 Feb 2022

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

COVID found to be the leading cause of death for people with intellectual and developmental disabilities

GnRH therapy could improve cognitive deficits in men with Down syndrome

Study addresses food texture challenges in the life of children with Down syndrome

Simple blood test can accurately detect Alzheimer's disease in people with Down syndrome

Study gains new insights into heart and lung conditions in babies born with Down Syndrome

Vaccines and monoclonal antibodies being developed for respiratory syncytial virus

Gen Zs with Down syndrome have high aspirations and a great zest for life, study reveals

Music could be a powerful tool to help mothers promote infant development

Shared decision-making training program for nurses to support Down syndrome screening decisions

"Selfish chromosomes" explain why most human embryos die very early on, study suggests

Antiretroviral drug used to treat HIV ameliorates cognitive deficits in mouse model of Down syndrome

Genetic screening results just got harder to handle under new abortion rules

AAP recommends University of Kentucky HDI resources for families of infants with Down syndrome

The effectiveness of sotrovimab vs. molnupiravir in preventing severe COVID-19 outcomes in non-hospitalized high-risk COVID-19 adult patients

Heart complications uncommon for children and young adults after SARS-CoV-2 infection

UW Medicine scientists contribute to the publication of first complete, gapless genome sequence

Exploring the drivers of Catatonia and Acute Regression in Down Syndrome

First genetic rat model of Down syndrome offers better understanding of the condition

People with congenital heart defect hospitalized for COVID-19 are at highest risk of severe illness

Inside the tactical tug of war over the controversial Alzheimer’s drug

World Sepsis Month: Increasing Sepsis Awareness, Patient Support, and Improving Survivor Outcomes

World Alzheimer’s Day 2022: Improving Post-Diagnosis Care with COGNISANCE

World Sepsis Day 2022: Raising Sepsis Awareness with Sepsis Research FEAT

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

World Sepsis Month: Increasing Sepsis Awareness, Patient Support, and Improving Survivor Outcomes

World Alzheimer’s Day 2022: Improving Post-Diagnosis Care with COGNISANCE

World Sepsis Day 2022: Raising Sepsis Awareness with Sepsis Research FEAT

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