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An Overview of Down Syndrome

By Kathleen Fergus
Medically reviewed by a board-certified physician
Updated May 21, 2019

Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when a person
has a full or partial extra copy of chromosome 21. It's characterized by a variety of distinctive
physical features, an increased risk of certain medical problems, and varying degrees of
developmental and intellectual delays. According to the National Down Syndrome
Society (NDSS), approximately 6,000 babies in the United States are born with the disorder
each year.

If you've just found out that your own baby has Down syndrome, you probably have myriad
questions and concerns. You may even be a little scared about how you will care for a child
who's likely to have many physical and intellectual challenges throughout life.

However, since the disorder was first described by a British physician named John Langdon
Down in 1866, medical researchers have learned much about Down syndrome, from
understanding the wide variety of symptoms and characteristics it causes to developing
therapies and educational approaches to help those with it.

In order for a child with Down syndrome to reach their full potential, early intervention is key
As a parent, the more you learn about Down syndrome, and the earlier you learn it, the bet
equipped you will be to set your child (and yourself) up for success.

Genetics
Every cell in the human body originates from one fertilized egg, or zygote, that duplicates
itself again and again to create the different cells and tissues of the body. To understand
Down syndrome, it helps to have some basic knowledge about chromosomes and genes.

Chromosomes, as well as the genes located on them, come in pairs. Each chromosome
contains the genes that provide specific information about the body—from eye color and
potential height to traits such as dimples and risk of certain diseases.

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What Causes Down Syndrome?

Normally, human beings inherit 23 pairs of chromosomes from both parents for a total of 46
However, people with Down syndrome wind up with 47 chromosomes because they get an
extra copy of chromosome 21. This happens when the 21st pair of chromosomes from eithe
the egg or sperm fail to separate.

Types
Although the umbrella clinical term for Down syndrome is trisomy 21, this term actually refers
to one of three types of chromosome 21 anomalies. All three types of Down syndrome are
genetic conditions, but only 1 percent of Down syndrome cases are passed from parent to
child through genes.

The three types of Down syndrome are:

Complete trisomy 21: This is the most common chromosomal abnormality seen in
children. It accounts for 95 percent of Down syndrome cases. The extra chromosome
comes from the mother 88 percent of the time and from the father 12 percent of the
time.

Translocation trisomy 21: This occurs when two chromosomes, one of which is a
number 21, join together at the ends, creating two independent number 21
chromosomes as well as a number 21 chromosome attached to another chromosome.
Approximately 75 percent of translocations happen by chance. The rest are inherited
from a parent known as a "balanced carrier." Although translocation Down syndrome
occurs via a different mechanism than trisomy 21, the physical and features that mark
the condition are the same.
Mosaic trisomy 21: In this rare form of Down syndrome, which accounts for just
2 percent to 3 percent of cases, only some cells have an extra copy of chromosome 21.
Individuals with mosaic Down syndrome can have all the features of full trisomy 21,
none of the features, or fall somewhere in between.

Symptoms
Down syndrome is associated with a host of symptoms and characteristics. Not everyone
with the condition will have all of them, but there are certain ones that will affect the majority
of people who have the disorder.

Physical Features

The most obvious characteristics of Down syndrome are physical features that usually are
quite easy to recognize, including small, upturned, almond-shaped eyes, small facial
features, a large tongue that may protrude slightly, and a short stocky build. Almost all infants
with Down syndrome have low muscle tone, or hypotonia, which can slow reaching certain
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physical milestones. Hypotonia also can contribute to orthopedic problems such as unstable
joints and an upper neck abnormality called atlantoaxial instability.

Many people with Down syndrome deal with a host of medical issues throughout their lives.
Common ones range from problems with hearing and vision to heart defects. Others include
gastrointestinal defects and thyroid disease. Around 1 percent of children with Down
syndrome are at an increased risk of leukemia (a type of cancer that affects white blood
cells).

Developmental and Learning Delays

All people with Down syndrome have some degree of intellectual disability or developmental
delay, which means they tend to learn slowly and may struggle with complex reasoning and
judgment. There's a common misconception that children with Down syndrome have
predetermined limits in their ability to learn, but this is entirely false. It's impossible to predict
the degree of intellectual disability an infant with Down syndrome will have.

Personality, Behavioral, and Psychological Traits

A common stereotype about Down syndrome is that people who have the disorder are
always happy and sociable. In fact, they experience the same full range of emotions that
others do. The condition also is linked to high rates of anxiety disorders, depression,
and obsessive-compulsive disorder.

People with Down syndrome are sometimes regarded as stubborn due to an innate need to
have routine and sameness in order to make sense of the complexities of daily life, and they
are given to self-talk as a way of processing information.

Related: Common Characteristics of Down Syndrome

Cause and Risk Factors

Down syndrome is caused by a chromosomal anomaly. It's estimated that there are 400
genes on chromosome 21, which basically means that people with Down syndrome have 400
"extra instructions." While this sounds like a good thing, it actually is like adding extra and
unnecessary ingredients to a recipe: You will still get the same basic dish, but with notable
changes.

Usually, this happens quite randomly. However, there are three known risk factors for Down
syndrome.

Maternal age is one. The chances of having a child with Down syndrome increases as a
woman gets older.

Maternal age and Down syndrome risk:

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Age 35: Risk is 1 in 385

Age 40: Risk is 1 in 106

Age 45: Risk is 1 in 30

In addition, a woman who has one child with Down syndrome is more likely to have another
child with the disorder. Finally, a family history of Down syndrome can be associated with
increased risk of the disorder.

Learn More: Causes and Risk Factors of Down Syndrome

Diagnosis
An infant with Down syndrome can be identified at birth or very shortly after based on distinct
physical characteristics such as a smaller-than-normal head, upward-slanting eyes, a small
mouth with a protruding tongue, and a single crease (rather than two) across the palm of the
hand, and a large space between the big toe and the second one.

Infants with Down syndrome also tend to be "floppy," meaning they have low muscle tone
(hypotonia). And some are born with certain serious health problems that are associated with
Down syndrome, such as heart defects and gastrointestinal defects.

In order to confirm that a child with such features has Down syndrome, a chromosome
analysis, called a karyotype, can be done using a blood sample from the baby.

But testing is such that Down syndrome may also be identified (or at least suspected) before
birth. Prenatal screenings and tests that can help predict that a baby will be born with
Down syndrome include:

Ultrasound: Also called a sonogram, this imaging test of a developing fetus sometimes
picks up subtle physical signs that point to an increased risk of Down syndrome.
Maternal serum screening: A test of an expectant mom's blood between the 15th and
20th weeks of pregnancy, the quadruple screen can suggest that a fetus is at risk of
Down syndrome. It's not a definite diagnosis, however.

Amniocentesis: This test involves using a sample of amniotic fluid to create a

karyotype. If an extra number 21 is present, then Down syndrome is diagnosed. An
amnio is done between 15 and 20 weeks.

Chorionic villi sampling (CVS): As with amnio, CVS testing uses karyotyping to
diagnose Down syndrome. However, the cells examined are taken from the placenta
rather than the amniotic sac. CVS is performed at 11 to 13 weeks of pregnancy.

Learn More: How Down Syndrome Is Diagnosed

Treatment
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There's no cure for Down syndrome. From infancy on, every person with the condition will
have different physical, intellectual, and emotional issues that will need to be dealt with on an
individual basis, typically with the help and support of a team of doctors, therapists, and
social workers.

People with Down syndrome who are born with or develop health issues such as
hypothyroidism, heart defects, or gastrointestinal abnormalities can be treated for those
conditions just as anyone would be—with thyroid medication to bring levels of the thyroid
hormone to normal, for instance, or with surgery to repair a hole in the heart. Likewise,
children who have vision problems can have their eyesight corrected with glasses, and those
with hearing loss can be fitted with hearing aids.

In addition to medical treatment, people with Down syndrome can benefit from physical
therapy, speech therapy, occupational therapy, or other interventions that target specific
challenges.

Some children need help dealing with emotional and behavioral issues, such as acting out
when they have trouble communicating, and can be helped by a psychologist or other mental
health expert.

Finally, there are increasing numbers of assistive devices that can be helpful to people with
Down syndrome, according to the NIH. Examples include devices that amplify sound,
computers with touchscreens or large-letter keyboards, and even special pencils to make it
easier to write.

Learn More: Treating Conditions Caused By Down Syndrome

Coping
Learning that your baby has Down syndrome can cause a flood of emotions, and there's no
question you and your family will be up against some tough challenges. In order to take the
very best care of your child, you'll need to also take care of your own health so that you have
plenty of strength and stamina. Getting settled into your new reality can take time—allow
yourself to adjust and learn.

One of the best ways to cope with Down syndrome is to seek out other parents of children
with the disorder. You could join a local support group that meets in person or find one onlin

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Other strategies for coping with Down syndrome include learning to "live in the moment," as
suggested by the NDSS, and focusing on all the wonderful things that you and your child can
do and enjoy together.

Learn More: Coping With Down Syndrome

A Word From Verywell

Most people with Down syndrome lead happy and purposeful lives. Many are able to have
jobs, live independently, and have relationships. In 1983, life expectancy for people with
Down syndrome was age 25. Today, those with the disorder live to an average age of 60.
Part of your job as a parent will be to prepare your child with Down syndrome to be as
independent as possible. Depending on his level of disability, that could mean setting him up
to live alone or with friends, or in a group home that will provide continued support.

But if you're just starting this journey, remember that the road ahead can't be exactly
mapped. Learn as much as you can, take cues from your child, and most importantly, take it
day by day.

Read Next: Common Characteristics of Down Syndrome

Article Sources

Centers for Disease Control and Prevention (CDC). Facts About Down Syndrome. Mar 3,
2016. www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

Mayo Clinic. Down Syndrome. Mar 18, 2018. www.mayoclinic.org/diseases-conditions/down-

syndrome/symptoms-causes/syc-20355977

National Down Syndrome Society. What Is Down Syndrome? www.ndss.org/about-down-

syndrome/down-syndrome/

National Institutes of Health. What Are Common Treatments For Down Syndrome? Jan 31, 2017.

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