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

Artificial intelligence could help better predict the onset and course of cardiovascular disease

For the first time, University of Utah Health scientists have shown that artificial intelligence could lead to better ways to predict the onset and course of cardiovascular disease.

25 Jan 2022

AI could lead to better ways to predict the onset and course of cardiovascular disease

For the first time, University of Utah Health scientists have shown that artificial intelligence could lead to better ways to predict the onset and course of cardiovascular disease.

20 Jan 2022

Recommended choline intake during pregnancy improves child's sustained attention

Seven-year-old children performed better on a challenging task requiring sustained attention if their mothers consumed twice the recommended amount of choline during their pregnancy, a new Cornell study has found.

3 Jan 2022

Tracking ADHD symptoms, behavior in people with intellectual disability using a smartphone app

A new study by the UC Davis MIND Institute's David Hessl will test whether a smartphone-based app may help improve the accuracy of data in some clinical trials involving individuals with intellectual disability.

8 Oct 2021

Study reveals how the blood and immune systems develop in prenatal bone marrow

The first comprehensive analysis of how the blood and immune systems develop in prenatal bone marrow has been conducted by scientists at the Wellcome Sanger Institute, Newcastle University and their collaborators.

1 Oct 2021

Scientists examine kids’ unique immune systems as more fall victim to covid

Eighteen months into the covid-19 pandemic, with the delta variant fueling a massive resurgence of disease, many hospitals are hitting a heartbreaking new low. They're now losing babies to the coronavirus.

17 Sep 2021

Researchers develop a machine learning-based screening tool for genetic syndromes in children

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, according to a study published in The Lancet Digital Health.

2 Sep 2021

Study illuminates genetic understanding of aggressive childhood leukemias

New research published today in JAMA Oncology reports how two separate DNA changes appear to predict aggressive childhood leukemias when they occur in combination.

20 Aug 2021

Telehealth helped physical therapists to provide essential care for pediatric patients during pandemic

As a pediatric physical therapist in Clinton, Missouri, Jessica Luechtefeld was used to a hands-on coaching approach whenever meeting with her patients at their preschools, in their homes or at the Child's Play Therapy clinic.

18 Aug 2021

Obstructive sleep apnea may affect heart health and increase blood pressure in children

Obstructive sleep apnea, a form of sleep-disordered breathing, is common in children and adolescents and may be associated with elevated blood pressure and changes in heart structure.

18 Aug 2021

COVIDome Explorer online portal launched to accelerate COVID-19 research on a global scale

To further accelerate COVID-19 research on a global scale, investigators from the University of Colorado Anschutz Medical Campus have created a multidimensional dataset, known as the COVIDome dataset, derived from hospitalized COVID-19 patients versus negative controls.

17 Aug 2021

How a hospital and a school district teamed up to help kids in emotional crisis

In 2019, the Rockville Centre school district in Long Island, New York, was shaken by a string of student deaths, including the suicides of a recent graduate and a current student.

13 Aug 2021

Feinstein Institutes awarded $2.9 million NIH funding for polygenic embryo selection studies

Genetic testing and selection of embryos generated from in vitro fertilization have given rise to the controversial “designer baby” debate.

4 Aug 2021

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Dutch-French research shows that Optical Genome Mapping (OGM) detects abnormalities in chromosomes and DNA very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as they describe in two proof-of-concept studies published in the American Journal of Human Genetics.

8 Jul 2021

IU School of Medicine wins $30 million NIA funding to study Alzheimer’s disease and related dementias

National Centralized Repository for Alzheimer's Disease and Related Dementias grant has been renewed for another five years with funding expected to total $30 million from the National Institute on Aging (NIA), within the National Institutes of the Health.

29 Jun 2021

Study reveals risk factors associated with COVID-19 outcomes for people with IDD

A study of nearly 550 adults with intellectual and developmental disabilities receiving residential services in New York City found that age, larger residential settings, Down syndrome and chronic kidney disease were the most common risk factors for COVID-19 diagnosis, and heart disease was most associated with COVID-19 deaths.

14 Jun 2021

A single blood-based biomarker can help indicate underlying neurodegeneration

Levels of a protein called neurofilament light chain (NfL) in the blood can identify those who might have neurodegenerative diseases such as Down's syndrome dementia, motor neuron disease (ALS) and frontotemporal dementia, when clinical symptoms are not definitive

7 Jun 2021

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

Artificial intelligence could help better predict the onset and course of cardiovascular disease

AI could lead to better ways to predict the onset and course of cardiovascular disease

Recommended choline intake during pregnancy improves child's sustained attention

Tracking ADHD symptoms, behavior in people with intellectual disability using a smartphone app

Study reveals how the blood and immune systems develop in prenatal bone marrow

Scientists examine kids’ unique immune systems as more fall victim to covid

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Study illuminates genetic understanding of aggressive childhood leukemias

Telehealth helped physical therapists to provide essential care for pediatric patients during pandemic

Obstructive sleep apnea may affect heart health and increase blood pressure in children

COVIDome Explorer online portal launched to accelerate COVID-19 research on a global scale

How a hospital and a school district teamed up to help kids in emotional crisis

Feinstein Institutes awarded $2.9 million NIH funding for polygenic embryo selection studies

Optical genome mapping could change the existing workflow within cytogenetic laboratories

IU School of Medicine wins $30 million NIA funding to study Alzheimer’s disease and related dementias

Study reveals risk factors associated with COVID-19 outcomes for people with IDD

A single blood-based biomarker can help indicate underlying neurodegeneration

In California, nursing home owners can operate after they’re denied a license

High seroprevalence in Peruvian population recovering from SARS-CoV-2 infection

How schools can help kids heal after the pandemic’s uncertainty

Novel gene therapy for diseased muscle fiber repair

PFAS found in high levels in anti-fogging sprays

Could heart rate be a risk factor for dementia?

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

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