Down Syndrome

What it is

Quick Facts:

What is Down Syndrome?

Down syndrome is a chromosomal disorder that includes a combination of birth defects. Affected individuals have some degree of intellectual disability, characteristic facial features and, often, heart defects, and other health problems. The severity of these problems varies greatly among affected individuals.

How Common is Down Syndrome?

Down syndrome is one of the most common genetic birth defects. About 1 in 700 (or 6,000) babies are born with Down syndrome each year in the United States. According to the National Down Syndrome Society, there are more than 400,000 individuals with Down syndrome in the United States.

What Causes Down Syndrome?

Down syndrome is caused by extra genetic material from chromosome 21. Chromosomes are the structures in cells that contain the genes. Occasionally, before fertilization, a part of chromosome 21 breaks off during cell division and becomes attached to another chromosome in the egg or sperm cell. The resulting embryo may have what is called translocation Down syndrome. Affected individuals have two normal copies of chromosome 21, plus extra chromosome 21 material attached to another chromosome.

What health problems might a person with Down Syndrome have?

  • Heart Defects
  • Intestinal Defects
  • Vision Problems
  • Hearing Loss
  • Infections
  • Thyroid Problems
  • Leukemia
  • Memory Loss

What does a child with Down Syndrome look like?

  • Eyes that slant upward
  • Small ears that may fold over a little at the top
  • A small mouth, making the tongue appear large
  • A small nose with a flattened nasal bridge
  • A short neck
  • Small hands and feet
  • Low muscle tone
  • Short stature in childhood and adulthood

What can a child with Down Syndrome do?

Children with Down syndrome usually can do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. However, they generally start learning these things later than unaffected children.

The exact age that these developmental milestones are achieved cannot be predicted. However, early intervention programs beginning in infancy can help these children achieve their developmental milestones sooner.

Can a child with Down Syndrome go to school?

Yes. There are special programs beginning in the preschool years to help children with Down syndrome develop skills as fully as possible. Along with benefiting from early intervention and special education, many children are integrated into the regular classroom. Many affected children learn to read and write, and some graduate from high school and go on to post-secondary programs or college. Many individuals with Down syndrome participate in diverse childhood activities at school and in their neighborhoods.

Can Down Syndrome be cured?

There is no cure for Down syndrome. However, some studies suggest that women who have certain versions of some genes that affect how their bodies metabolize (process) the B vitamin folic acid may be at increased risk for having a baby with Down syndrome (5, 6). If confirmed, this finding may provide yet another reason why all women who might become pregnant should take a daily multivitamin containing 400 micrograms of folic acid. Taking folic acid can help reduce the risk of having a baby with certain birth defects of the brain and spinal cord.

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The Impact of Down Syndrome

Impact on Cognitive Functioning

Down syndrome has a huge impact on a child's cognitive functioning and development. They have impaired expressive communication and impaired explicit memory. Down syndrome also causes sleep problems, which could lead to further memory issues. People with down syndrome usually have early onset dementia of the Alzheimer's type (in the early middle age). They also have language delays. Despite all this, people with Down syndrome have extremely high levels of social intelligence.

Impact on Socio-Emotional Functioning

People with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, heath care systems, work forces, and social and recreational activities. They are extremely charming, affectionate, outgoing, cheerful, happy, and sociable. According to one study, a majority of children with Down syndrome showed evidence of peer relationships that meet the criteria for true friendship. They also had increased smile frequency compared to children with other disabilities. Children with Down syndrome may benefit from help to develop play skills so that they can occupy themselves in rewarding play, and they may benefit from support for social play. Children with Down syndrome have the highest overall social competence.

Impact on Day-to-Day Functioning

In primary school and teenage years, parents and teachers may need to support the development of friendships, with both typically developing peers and peers with disabilities, including peers with Down Syndrome.

Down Syndrome in the 21st Century


Down Syndrome Education