Down Syndrome News and Research

Latest Down Syndrome News and Research

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

Older people with Down syndrome at higher risk for Alzheimer's disease, dementia

A study of Wisconsin Medicaid enrollees with Down syndrome has found that more than half of those ages 55 and older have filed at least three claims for dementia and nearly a third have filed at least three claims for Alzheimer's disease.

28 Oct 2019

Decision support tool could avert needless referrals of low-risk patients to cardiac specialists

Few events strike more fear in parents than hearing their child's heart "hurts."

25 Oct 2019

Researchers receive $3.2 million NIH grant to pursue a deeper understanding of Down syndrome

Mount Sinai researchers have been awarded a $3.2 million grant from the National Institutes of Health to pursue a deeper understanding of Down syndrome, the most common genetic cause of intellectual and developmental disabilities in children and young adults, affecting more than 200,000 individuals in the United States.

22 Oct 2019

Research provides evidence to support expansion of insurance coverage of NIPT

Research conducted by the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences provides evidence to support expansion of insurance plan coverage of noninvasive prenatal testing (NIPT), a simple maternal blood draw which screens for fetal chromosomal disorders including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome), to women under the age of 35.

8 Oct 2019