Down syndrome person having a baby

Facts about Down Syndrome | CDC

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

• Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
• Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. ² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

• The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
• One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. ^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e. g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

• Chorionic villus sampling (CVS)—examines material from the placenta
• Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
• Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Other Health Problems

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.⁸

• Hearing loss
• Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
• Ear infections
• Eye diseases
• Heart defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

• Down Syndrome Research Foundation (DSRF)
  DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
• Global Down Syndrome Foundation
  This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
• National Association for Down Syndrome
  The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
• National Down Syndrome Society (NDSS)
  NDSS seeks to increase awareness and acceptance of those with Down syndrome.

References

1. Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435.
2. Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
3. Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
4. Ghosh S, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
5. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
6. Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.
7. Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.
8. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

Down Syndrome Misconceptions vs. Reality

There are many misconceptions about people with Down syndrome. These misconceptions are largely a result of two contributing factors:
(1) the syndrome itself has changed so fundamentally (for the better) with the dismantling of the inhumane institutions where people with Down syndrome were previously forced to live, and

(2) the lack of medical and basic scientific research makes it difficult to get accurate, updated information about people with Down syndrome.

The Global Down Syndrome Foundation (GLOBAL) is dedicated to correcting misconceptions and over time providing funding for research that will better address medical and cognitive issues associated with the condition.

Misconception: Only older parents have children with Down syndrome.

Reality: According to Centers for Disease Control and Prevention research, about 80% of children who have Down syndrome are born to women younger than 35. The CDC research shows that the chances of having a baby with Down syndrome does increase with age. However, younger women have more babies, so more children with Down syndrome are born to younger mothers.

Misconception: A child with Down syndrome will ruin a marriage.

Reality: A recent Vanderbilt Kennedy Center study published in the American Association of Intellectual Disabilities indicates that divorce rates are lower in families of children with Down syndrome. The study was one of the largest to date and included 647 families who have children with Down syndrome.

Misconception: A child with Down syndrome negatively impacts their siblings.

Reality: Studies do not support that a child with Down syndrome will have a negative impact on siblings. For example, a recent study published in the Journal of Intellectual Disability Research found no long-term detrimental effects to siblings. In fact, some mental health professionals point to the psychological advantages of such a child cared for within the family circle. They have documented siblings who have increased tolerance, compassion and awareness, in contrast to all typical siblings.

The average life expectancy for a person with Down syndrome is nearly 60 years old. Some people with Down syndrome have lived into their 80s.

Misconception: People who have Down syndrome die young.

Reality: The average life expectancy for a person with Down syndrome is nearly 60 years old. Some people with Down syndrome have lived into their 80s. It is true that people with Down syndrome on average don’t live as long as their typical counterparts. Unfortunately, the average life expectancy for an African-American in the U.S. with Down syndrome is just 35 years old. This appalling statistic deserves the full attention of our government and scientific community.

Reality: An inability to walk is not a characteristic of Down syndrome. However, getting early physical therapy to ensure proper walking is important and builds the foundation for sports aptitude. GLOBAL provides sports opportunities through the “Dare to Play” camps. Individuals with Down syndrome have a variety of athletic abilities and levels of agility, in the same way that typical people do. All over the world, there are sports teams that include people with Down syndrome including through Special Olympics.

Misconception: People with Down syndrome can’t read or write.

Reality: The majority of children with Down syndrome can learn to read and write. Research shows that teaching reading to children with disabilities, including those with Down syndrome, is most effective when teachers are well trained, have high expectations of their students, and students’ progress is formally evaluated. More research is needed to determine how to most effectively teach children with Down syndrome to read and write.

Misconception: People with Down syndrome can’t go to regular public schools.

Reality: It is not only advisable that children with Down syndrome attend their public schools, in the U.S. it is required by law that public schools accept and provide an appropriate education to them. This requirement is outlined in the Individuals with Disabilities Education Act (IDEA). IDEA stipulates that all children with disabilities must have available to them a free, appropriate public education that meets their unique needs and prepares them for further education, employment, and independent living.

Further, studies show that including students with disabilities in the classroom improves the academic progress of students without disabilities.

Misconception: People who have Down syndrome don’t feel pain.

Reality: People with Down syndrome absolutely feel pain. Reaction to pain is not always apparent; for example, a 2000 study published in the medical journal, Lancet, suggests that such individuals express pain more slowly and less precisely than the rest of us. Parents and guardians need to be firm with the medical community and insist that people with Down syndrome be given the same types of pain-control procedures as a typical person, even in the absence of obvious signs of pain.

Misconception: People with Down syndrome all look alike.

Reality: Many but not all people with Down syndrome share common features. For example, many but not all people with Down syndrome have almond-shaped eyes and a short stature. However, like typical people who share similar features, they look more like their families than each other.

Misconception: All people with Down syndrome are overweight.

Reality: Not all people with Down syndrome are overweight. However, there is a relationship between Down syndrome and obesity, although the actual degree of obesity relative to the typical population needs further study. According to one study of 247 people with Down syndrome published in the Journal of Intellectual Disability Research, women and men with Down syndrome more likely to overweight or obese than compared to the typical population.

Research suggests that both the thyroid and a lower metabolic rate contribute to people with Down syndrome being overweight. This lower metabolic rate means that children with Down syndrome burn fewer calories overall compared to a typical child and need to need to exercise more to burn off the same number of calories. It is important for everyone to eat right and exercise.

Misconception: All people who have Down syndrome will develop Alzheimer’s disease.

Reality: Numerous studies have shown that virtually 100% of people with Down syndrome will have the plaques and tangles in the brain associated with Alzheimer’s disease (e.g. Zigman et al., 1993, 19, 41-70) but not necessarily the actual symptomatic disease. How many people with Down syndrome will develop the symptomatic Alzheimer’s disease needs additional research. One study from 1989 indicates that between 20-55% of people with Down syndrome will develop symptomatic Alzheimer’s disease before the age of 50 (i.e. Australia and New Zealand Journal of Developmental Disabilities, Haveman et al.,15, 241-255).

Clearly, this is an important area of research for people with Down syndrome and Alzheimer’s and the Global Down Syndrome Foundation is committed to ensuring such research happens.

Misconception: People who have Down syndrome cannot have children.

Reality: It’s true that a person with Down syndrome may have significant challenges in rearing a child. But women who have Down syndrome are fertile and can give birth to children. According to older studies, that are being reinvestigated, men with Down syndrome are infertile. However, it is important to note, there have been a handful of documented instances (see American Society of Reproductive Medicine and Journal of Medical Genetics) of men with Down syndrome who have fathered children.

An increasing number of adults with Down syndrome in the U.S. are living independently with limited assistance from family members or the state. A small percentage are able to live entirely independently.

Misconception: Adults who have Down syndrome cannot live independently or get jobs.

Reality: An increasing number of adults with Down syndrome in the U.S. are living independently with limited assistance from family members or the state. A small percentage are able to live entirely independently. In the U.S. some students who have Down syndrome graduate from high school, and some go on to attend post-secondary education.

More opportunities are available for education and employment today than ever before. Anecdotally, we know that people with Down syndrome can be excellent employees and some employers have reported a higher satisfaction level among ALL workers when they have co-workers who have Down syndrome.

Misconception: People who have Down syndrome are always happy.

Reality: People with Down syndrome are more like typical people than they are different. Everyone has feelings and moods. One recent literature review of previous studies found that people with Down syndrome are at a higher risk for depression. And there is evidence that it is under-treated. Just as in the typical population, it is important that adults with Down syndrome have educational, work and social opportunities, as well as adaptive life-skills.

Misconception:  People who have Down syndrome have no memory.

Reality: As any related parent or professional will attest, people with Down syndrome absolutely have memory, and like typical individuals, their ability to remember varies from person to person.

Misconception: Babies who have Down syndrome are a result of incest.

Reality: There is absolutely no relationship between incest and Down syndrome.

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Anna Kopytova, a resident of Novosibirsk, was informed at the 24th week of pregnancy that her son had Down's syndrome and was sent for an abortion. But the family decided to keep the child. Later, at the maternity hospital, they were offered to leave the newborn or tell relatives that he had died, but the couple ignored the advice and decided to raise the baby themselves. Why did the Kopytovs keep the pregnancy despite the diagnosis? We publish the mother's monologue.

During pregnancy, testing for genetic abnormalities showed a high risk. I retaken it twice in paid laboratories: the risk was either more or less depending on the week, but always in the red zone. nine0093

When I finally got to a geneticist, she suggested doing an amniocentesis test, in which amniotic fluid is taken and an accurate diagnosis is made. It sounded to us at 24 weeks. During the conversation, the doctors said that there are two ways: to terminate the pregnancy now or to give birth.

At the same time, we did not have any pathologies visible on ultrasound, the child was absolutely healthy. We were invited to the perinatal commission, where the chief geneticist, obstetrician-gynecologist and other specialists gather. Collectively, they decide whether to give the mother permission to terminate the pregnancy or not. nine0093

My husband and I arrived and did not yet fully understand whether to give birth or not to give birth, we wanted to hear the opinions of specialists. At the commission, the doctors simply looked at the paper, saw Down's syndrome and signed the referral for an abortion, without even talking to us. At that moment, I seemed to even agree with this idea.

I was admitted to the hospital, and already there the doctors began to deal with all the documents and saw that it was already too late to terminate the pregnancy: more than 22 weeks. Therefore, I was refused. And thank God! nine0003

At the maternity hospital, after giving birth, they asked me if I would keep the baby: “Have you definitely decided that you need this baby? You can leave him at the hospital. We can tell relatives that your child has died. You are young, your husband is young: still give birth to healthy children. But by that time, my husband and I had already made a joint decision, studied everything, and the diagnosis did not sound so scary for us.

We had a ready-made instruction for use, as I call it. We already knew which doctors to go to, what features we need to carefully monitor, what to work harder on. Therefore, until the age of 3, we very closely rehabilitated the child. He is now studying at a correctional school, he graduated from the 2nd grade. Very socially adapted, serves himself, goes to school. Just doesn't speak. nine0093

I think there should always be a choice. But in order for a person to make the right decision, he must be fully aware of everything, and our awareness suffers.

When we were told about Down's syndrome, for me it was like a butt on the head. I have never met such people in my life. That is, the most I knew about it was that we used to call each other downs at school. Someone had acquaintances, neighbors, relatives, but they were not on my life path. nine0093

When a pregnant woman at the 11th or 12th week is told: “You have a suspicion of Down syndrome”, the key word here is “suspicion”. But not everyone, like me, goes to pierce the stomach, for many it is easier to get rid of this pregnancy in such a short period of time. I was not persuaded to have an abortion, but by default they simply sent me there: here you have a piece of paper in your hands, and you make your own decision.

I believe that instead of referrals for abortions in hospitals, contacts should be given to support centers for families and children with different diagnoses. First, give information and tools on how you can still live with such a child. And if this way of life does not suit a person at all, then already give a direction for termination of pregnancy. I think that a large percentage of interruptions come from ignorance. nine0003

How is the life of children and adults with Down syndrome? Earlier we told the story of a family from a village who adopted 50-year-old Volodya with this diagnosis. And they shared the difficult story of the mother of twins , one of whom was also born with Down syndrome.

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Anna with her son

Photo: Anna Kopytova

son Down syndrome, and sent for an abortion. But the family decided to keep the child. Later, at the maternity hospital, they were offered to leave the newborn or tell relatives that he had died, but the couple ignored the advice and decided to raise the baby themselves. Why did the Kopytovs keep the pregnancy despite the diagnosis? We publish the mother's monologue. nine0090