Learn About Down Syndrome

What is the definition of Down Syndrome?

Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

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What are the causes of Down Syndrome?

Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.

How prevalent is Down Syndrome?

Down syndrome occurs in about 1 in 700 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and approximately 200,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.

Is Down Syndrome an inherited disorder?

Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.

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What are the latest Down Syndrome Clinical Trials?
The Down Syndrome Clinical Trials Network (DS-CTN) Study of Alzheimer's Disease in Down Syndrome

Summary: This is an observational, multi-center, longitudinal cohort study to characterize adults with DS ages 25 years and above enrolled at specialized care centers. The aim is to assess changes in cognition, behavior, function and health over approximately 32 months. Blood will be collected for the development of plasma AD biomarkers useful in the DS population.

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Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)

Summary: The study objective is to compare neurodevelopmental (ND) and behavioral outcomes between children with Down syndrome (DS) who had complete atrioventricular septal defect (CAVSD) repair and children from the same clinical sites with DS without major congenital heart disease (CHD) requiring previous or planned CHD surgery.

Who are the sources who wrote this article ?

Published Date: June 01, 2020Published By: National Institutes of Health

What are the Latest Advances for Down Syndrome?
Neuromuscular exercise in children with Down Syndrome: a systematic review.
Heart transplantation in children and adults with Down syndrome: A single centre experience.
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Therapeutic exercise to improve motor function among children with Down Syndrome aged 0 to 3 years: a systematic literature review and meta‑analysis.