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

Latest Down Syndrome News and Research

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

Scientists reverse learning and memory deficits with drugs in animal model of Down syndrome

In a surprising finding using the standard animal model of Down syndrome (DS), scientists were able to correct the learning and memory deficits associated with the condition -- the leading genetic cause of cognitive disability and the most frequently diagnosed chromosomal disorder in the U.S. -- with drugs that target the body's response to cellular stresses.

15 Nov 2019

New method could optimize facial analysis to detect genetic syndromes

Each year, over a million children are born with a genetic disease. Although about half of genetic syndromes present facial dysmorphology, abnormal facial features are often subtle at birth and their identification by paediatricians can prove challenging. Delays and errors in diagnosis have a significant impact on mortality and morbidity associated with genetic syndromes.

13 Nov 2019

Optimal therapy for Down syndrome arthropathy remains unclear, reveals study

A new study found that patients with Down syndrome arthropathy continue to have an approximate year-long delay in diagnosis from the onset of their symptoms, and that optimal therapy for this condition remains unclear.

11 Nov 2019

Children with Down syndrome at greater risk of an associated form of arthritis

A new study finds that children with Down syndrome are at an increased risk of an associated form of arthritis.

10 Nov 2019

Top organizations announce awards for emerging leaders in brain health and dementia

To address the growing worldwide public health crisis due to dementia, the prevalence of which is expected to triple worldwide to 152 million by 2050, three leading organizations announced this year's Pilot Awards for Global Brain Health Leaders.

8 Nov 2019

IBR receives $1.95 million NIH grant for research on rare diseases

The New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities has received a $1.95 million grant, for a five-year period, from the National Institute of Health's National Institute of General Medical Sciences to support IBR physician-scientist Gholson Lyon, MD, PhD, in his research on rare diseases.

5 Nov 2019

Genes linked to autism spectrum disorder may play role in eye movements

Researchers studying zebrafish have found that genes linked to autism spectrum disorder and other developmental brain abnormalities may be playing a role in people who cannot control their eye movements.

4 Nov 2019

Study uncovers cause for spatial-memory deficits in people with Down syndrome

Professor Juan Lerma's group, from the UMH-CSIC Institute of Neurosciences, in Alicante, has identified the gene called GRIK1, fundamental in the balance between excitation and inhibition in the brain, as one of the causes for people with Down syndrome having spatial orientation problems.

1 Nov 2019

Wisconsin study: 3 in 5 people with Down syndrome diagnosed with dementia by age 55

Not so many years ago, people with Down syndrome rarely survived to middle age. Many died young due to heart problems associated with the congenital condition.

29 Oct 2019