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

UMSOM researchers identify how certain gene mutations cause ALS

Researchers at the University of Maryland School of Medicine have identified how certain gene mutations cause amyotrophic lateral sclerosis, also known as Lou Gehrig's disease.

10 Jun 2020

NIH-funded researchers to assess drugs prescribed to treat COVID-19 in children

Researchers funded by the National Institutes of Health have launched an effort to evaluate drugs prescribed to treat COVID-19 in infants, children and adolescents across the country. The study leverages an existing clinical trial that examines drugs that are prescribed off-label to children for a variety of medical conditions.

10 Jun 2020

New studies provide insights into DNA crossovers in egg and sperm cells

In the famous words of movie character Forrest Gump, "Life is like a box of chocolates; you never know what you're gonna get."

4 Jun 2020

How COVID-19 affects people with Down Syndrome

A new study published in June 2020 on the preprint online server medRxiv reports on the increased risk of COVID-19 in Down Syndrome (DS) and certain characteristic features that are found in this population segment.

3 Jun 2020

Study analyzes cancer diagnosis in children with birth defects

Scientific studies suggest that children with birth defects are at increased risk of cancer. However, it has not been assessed whether the type of cancer, the age at which they are diagnosed or the extent of cancer spread at the time of diagnosis, is different for children with birth defects compared to children without birth defects.

29 May 2020

New therapeutic possibilities for treating intellectual disability in Down syndrome

A team of researchers has studied the neural basis of intellectual disability in mice with Down syndrome and has discovered that the neural networks of brain circuits relevant to memory and learning are over-activated and that the connectivity of these circuits is poor.

5 May 2020

New mathematical model can help explain why so many pregnancies and IVF attempts fail

Scientists have created a mathematical model that can help explain why so many pregnancies and in vitro fertilization attempts fail.

13 Apr 2020

Why do so many pregnancies and in vitro fertilization attempts fail?

Scientists have created a mathematical model that can help explain why pregnancies and in vitro fertilization attempts fail.

13 Apr 2020

Modifiable risk factors could play important role in Alzheimer's disease, study finds

Amyloid is a key feature of Alzheimer's disease, but the accumulation of these sticky proteins may not be the only risk factor for developing Alzheimer's disease, according to a new study published this week.

8 Apr 2020

Administering specialized lipids prevents memory loss, inflammation in Down syndrome mouse model

Individuals with Down syndrome are at a much greater risk of developing Alzheimer's disease, with inflammation of the brain starting early in life and the risk of Alzheimer's reaching nearly 80% by the age of 60.

13 Mar 2020

Researchers discover new mechanism involved in the expression of Down syndrome

Researchers at CHU Sainte-Justine and Université de Montréal have discovered a new mechanism involved in the expression of Down syndrome, one of the main causes of intellectual disability and congenital heart defects in children.

21 Feb 2020

Autophagy genes work against tumors in some ovarian cancers

Shedding light on a decades-old controversy, scientists at the Medical University of South Carolina and University of California at San Diego published findings in PLOS Genetics this month showing that autophagy or "self-eating" genes work against tumors in certain types of ovarian cancer.

13 Feb 2020

A microdose lithium formulation could halt signs of Alzheimer's pathology

There remains a controversy in scientific circles today regarding the value of lithium therapy in treating Alzheimer's disease.

24 Jan 2020

Study sheds new light on impact of common plasticizer on human reproductive health

Researchers at Harvard Medical School and the New York State Department of Health have discovered how a common plasticizer associated with human reproductive abnormalities likely does its damage at the molecular level.

10 Jan 2020

Parenting your aging parents when they don’t want help

David Solie's 89-year-old mother, Carol, was unyielding. "No, I will not move," she told her son every time he suggested that she leave her home and relocate to a senior living residence.

19 Dec 2019

Lower life expectancy with intellectual disability

A new study published on December 2, 2019, in the Journal of Applied Research in Intellectual Disabilities shows why people with intellectual disabilities (ID) typically have a shorter life span compared to the general population. The UNSW Sydney researchers uncover factors that lead to a higher risk of death among people with ID.

2 Dec 2019

New strategy could help cells get rid of disease-related debris

Tohoku University researchers have developed a strategy that could help cells get rid of disease-related debris. Further research could lead to treatments for neurodegenerative and metabolic diseases, Down syndrome, and maybe even aging-related diseases.

27 Nov 2019

Fertility treatments cause epigenetic changes in mouse embryos, study finds

Though epigenetic disorders - diseases caused by faulty gene expression - are still rare overall, babies born using fertility treatments have up to an 11-fold higher risk of inheriting them.

26 Nov 2019

Research team publishes findings from study of TAF1 syndrome

An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, PhD, of the New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities, today announced publication of findings from its study of the rare disease TAF1 syndrome.

21 Nov 2019

MU researchers describe Down syndrome-associated catatonia

Down syndrome, due to an extra chromosome 21, occurs in 250,000 children and adults in the United States, making it the country's most common chromosomal disorder. Inherited heart defects, thyroid cancer, celiac disease and developmental disabilities are common Down syndrome complications.

19 Nov 2019