Project Description

Down Syndrome Fast Facts

Down syndrome is a genetic disorder that typically causes developmental delays and disabilities. It can also cause physical complications.

Down syndrome occurs in about 1 in every 700 babies. Approximately 6,000 babies are born with Down syndrome in the United States each year.

The rate of Down syndrome cases in the US increased by about 30% between 1979 and 2003.

Down syndrome is the most common genetic chromosomal disorder, and it is the leading cause of learning disabilities in children.

An estimated 250,000 people were living with Down syndrome in the US in 2008.

What is Down Syndrome?

Down syndrome is a genetic chromosomal disorder that causes cognitive and developmental delays and disabilities. People with Down syndrome also often have physical complications associated with the disorder. Down syndrome occurs when a person’s cells contain extra genetic material that results from abnormal cell division before birth.

Aside from its developmental and health effects, Down syndrome causes distinctive physical features, including:

  • Flattened face
  • Upward slanting eyes
  • Small head
  • Short neck
  • Short stature
  • Short fingers and broad palms with a single crease in the skin
  • White flecks in the iris of the eyes
  • Unusual flexibility
  • Decreased muscle tone

Developmental Symptoms of Down Syndrome

Children with Down syndrome typically grow more slowly than other children, so their physical stature begins to lag behind through childhood.

The severity of cognitive and intellectual impairment varies greatly from individual to individual. Some people only have a mild impairment, while others are moderately affected. Language development is typically delayed, and people with Down syndrome often have problems with both long- and short-term memory.

Potential Physical Complications of Down Syndrome

Down syndrome comes with an increased risk of physical complications, some of them severe enough can be life-threatening.

Common physical problems associated with Down syndrome include:

  • Heart defects. Heart defects are present at birth in about half of babies born with Down syndrome. These defects may require surgery.
  • Abnormalities in the digestive system
  • Abnormal development of the spine
  • Immune-related disorders
  • Dementia

Despite the potential for physical complications, life expectancy for people with Down syndrome continues to increase. In 1960, the average life expectancy for an individual with the disorder was about 10 years. By 2007, the average life expectancy had increased to 47 years.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

What Causes Down Syndrome?

The cells of people with Down syndrome have an extra copy (or an extra part of a copy) of a specific chromosome. A chromosome is a structure containing the genes that control how our cells develop and behave. A normal cell contains 23 pairs of chromosomes; one chromosome in each pair is inherited from the mother, and the other is inherited from the father. In Down syndrome, abnormal cell division before birth results in an extra copy of a particular chromosome (called chromosome 21), and the extra genetic material causes cells to develop and behave abnormally.

Types of Down Syndrome

Three different types of Down syndrome are characterized by the way the abnormal chromosomal development happens in the cells.

  • Trisomy 21. This type occurs when there is a separate extra copy of chromosome 21. This is the most common type of the disorder, affecting about 95% of people with Down syndrome.
  • Translocation Down syndrome. This type happens when an extra copy or extra fragment of chromosome 21 is attached to a different chromosome, rather than being a distinct extra copy. This is a rare form, affecting only about 3% of people with Down syndrome.
  • Mosaic Down syndrome. In this type, some of the person’s cells have an extra copy of chromosome 21, but other cells have the normal two copies. The effects of the disorder tend to be milder in this type. Mosaic Down syndrome is the rarest type, accounting for only about 2% of cases.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Is Down Syndrome Hereditary?

Down syndrome is a genetic disorder, but it is not usually passed on from parents to their children. The abnormal cell division that results in the syndrome typically occurs spontaneously, not because of any specific genetic trigger in the cells.

Translocation Down syndrome, however, may be passed from parent to child. In this case, the parent may possess some dislocated genetic material without having symptoms of the disorder themselves. When this dislocated material is passed on, it can cause Down syndrome in the child. However, not all cases of translocation Down syndrome are inherited, and this type of disorder is rare overall.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Down Syndrome Detected?

Down syndrome is often detected before birth. In cases where it is not diagnosed before birth, the distinctive physical features of the syndrome make it easy to diagnose at birth. It is unusual for the disorder to escape notice, even in its earliest stages.

Early intervention is important, however. Prompt treatment of potentially life-threatening physical complications is essential, and preventive measures can help decrease the risk of further complications in the future. Dealing effectively with the disorder and its effects can help to support children as they cope with its challenges early in life, too.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Down Syndrome Diagnosed?

Detection of Down syndrome during pregnancy can be approached in two different ways. Screening tests don’t directly detect Down syndrome, but they look for indications that the risk of Down syndrome is elevated. Diagnostic tests look directly for the genetic indications of Down syndrome. These tests are more definitive than screening tests, but they carry a risk to the mother and baby. Therefore, they may not be used unless the pregnancy is considered to be high-risk.

Screening Tests

  • Blood tests. These tests examine the mother’s blood for levels of hormones and proteins that could suggest the presence of Down syndrome. These tests are routinely performed during all pregnancies.
  • Ultrasound. An ultrasound imaging may reveal abnormalities in the baby’s neck that are characteristic of Down syndrome or other genetic disorders.

Diagnostic Tests

  • Chorionic villus sampling (CVS). This test extracts cells from the placenta and examines them for indications of Down syndrome. This test is usually performed during the first trimester of the pregnancy, and it carries a low risk of causing a miscarriage.
  • Amniocentesis. This test examines a sample of the fluid in the amniotic sac surrounding the baby. This test is usually performed in the second trimester, and it also carries a low risk of miscarriage.
  • Percutaneous umbilical blood sampling (PUBS). This test examines blood from the umbilical cord for indications of Down syndrome. It is less commonly used but may be ordered when the results of other diagnostic tests are inconclusive. Like other diagnostic tests, it carries a small risk of miscarriage and other complications.

Post-Birth Genetic Testing

Although a visual examination is typically enough to detect Down syndrome, sometimes physical features resembling those of Down syndrome are present in babies without the disorder. Because of this, doctors will usually order a genetic blood test to confirm the diagnosis.

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Down Syndrome Treated?

There is no cure for Down syndrome, and no treatment will reverse its effects. However, treatments for health complications can prevent them from becoming serious or life-threatening.

Depending on the specific challenges faced by each individual, various therapies can help a person with Down syndrome to live a full, productive, happy life.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How Does Down Syndrome Progress?

Down syndrome affects each individual in a unique way, and each person will face different complications and risks. The disorder has the potential to cause a wide array of physical and health problems. In addition, the challenges of the disorder’s developmental and cognitive effects can put a person with Down syndrome at an increased risk of still more physical and mental health complications.

Common complications of Down syndrome include:

  • Heart defects
  • Gastrointestinal defects
  • Vision and hearing impairment
  • Infections
  • Leukemia
  • Hypothyroidism
  • Spinal malformation
  • Celiac disease
  • Motor development delays
  • Epilepsy
  • Sleep disorders
  • Dental problems
  • Depression and anxiety
  • Attention-deficit/hyperactivity disorder
  • Dementia and Alzheimer’s disease

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Down Syndrome Prevented?

The cause of the abnormal cell division that leads to Down syndrome is unknown. This makes it difficult to find ways to prevent the disorder. However, some factors increase the risk of Down syndrome.

  • Age of the mother. The eggs of women over the age of 35 are at a greater risk of abnormal division, so the risk of Down syndrome is greater when a woman becomes pregnant after that age.
  • Having a previous child with Down syndrome. The risk of having a child with Down syndrome is greater for parents who have already had a child with the disorder.
  • Carrying genetic translocation. Parents who carry translocated genetic material from chromosome 21 have a greater risk of having a child with Down syndrome.

A genetic counselor can help you to assess the risk if any of these risk factors apply to you.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Down Syndrome Caregiver Tips

As a caregiver for someone with Down syndrome, especially if that person is your child, you’re likely to worry about the future. With the right support, however, your child can live a very full and successful life, and if you learn how to give and find that support, you can put worry aside.

  • Teach your child to be independent. Give your child the opportunity to do things for themselves whenever possible. Be alert to your child’s unique strengths and challenges, and find ways to foster self-sufficiency in everyday tasks and situations.
  • Don’t be isolated. Stay involved in social activities and events. Allow your child to be a part of the wider world, where they can learn and explore.
  • Plan ahead. Think about the skills your child will need in adulthood, especially if you expect your child to eventually live independently. Begin building those skills as early as possible, and plan to build a support system that will be there for your child in the years ahead.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Down Syndrome Brain Science

Down syndrome causes problems with learning and memory, so it has always been obvious to scientists that the chromosomal abnormalities of the disorder have an effect on the brain. Exactly how and why the chromosomal problems impact brain function, however, has not yet been discovered. As researchers attempt to gain a better understanding of Down syndrome’s effect on the brain, the eventual goal is to use that knowledge to develop more effective therapies or treatments.

  • Imaging studies have shown that people with Down syndrome have smaller brain volumes overall as compared to people without the disorder. In particular, people with Down syndrome tend to have smaller frontal lobes and cerebellums, parts of the brain vital for language and memory processing. The hippocampus, which also plays an important role in learning and memory, also tends to be smaller.
  • One study has suggested that the hippocampus might not function properly in patients with Down syndrome. The dysfunction could impair the patient’s ability to connect past experiences with current situations, a disability that could result in significant problems with learning and information processing.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Down Syndrome Research

Scientists are working on several research projects to expand on what is known about Down Syndrome.  The research will improve knowledge about the factors that increase the risk for Down Syndrome, as well as the causes, and best treatments, and will aid people living with Down Syndrome and their caregivers.

We are currently gathering the information required to support projects such as Delivering Early Intervention to Children With Down Syndrome, Evaluating Cognitive Outcomes in Down Syndrome (ECODS-2)and The Promotion of Physical Activity for the Prevention of Alzheimer’s Disease in Adults With Down Syndrome.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

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