Seminar I

Down Syndrome
Down syndrome

Causes of Down
syndrome

a set of physical and mental traits caused by a gene problem that

happens before birth
Life-long condition. But with care and support, children who have
Down syndrome can grow up to have healthy, happy, productive lives
Children who have Down syndrome tend to have certain features, such
as a flat face and a short neck
have some degree of intellectual disability
in most cases it is mild to moderate.
caused by a problem with a baby's chromosomes
Normally, a person has 46 chromosomes. But most people with Down
syndrome have 47 chromosomes.
Having extra or abnormal chromosomes changes the way the brain and
body develop.
caused by abnormal cell division in early embryo development. Normally,
a child inherits 46 chromosomes, 23 from each parent. Each chromosome
carries DNA, called genes, which tell how the brain and body should
develop.

Risk factors

You are older when you get pregnant.

Many doctors believe that the risk increases for women age 35 and
older.
You have a brother or sister who has Down syndrome.
You had another baby with Down syndrome.
Certain things increase the chance that you will have a baby with
Down syndrome. These are called risk factors. Risk factors may be
different based on the type of Down syndrome.

Types of Down syndrome

Trisomy 21

Trisomy 21 is the most common type of Down syndrome. People with

this type have an extra chromosome (47 instead of 46) in every cell.
Risk factors for this type include:

Being older when you get pregnant. The risk of having a baby
with a genetic problem increases as a woman gets older. Many
doctors believe that the risk increases for women age 35 and
older. This risk keeps rising the older a woman gets.

Having a previous pregnancy in which the fetus had Down

syndrome. Women who have had a pregnancy with trisomy 21
Down syndrome have a 1-in-100 chance of having another child
with the condition.1

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Down Syndrome
Mosaicism

This type of Down syndrome is caused by only some cells producing 47

chromosomes. Mosaicism affects up to 3 out of 100 people who have
Down syndrome.2 Risk factors for mosaicism are similar to those for
trisomy 21.

Translocation

Translocation type is the only type of Down syndrome that may be

assed through families, but most of the time it happens randomly. A
person with this type has 46 chromosomes, but part of one
chromosome breaks and then attaches to a different chromosome. Up
to 5 out of 100 people with Down syndrome have the translocation
type.
You may be a carrier of the translocation chromosome if you have:

A family history of Down syndrome.

Had other children with this type of Down syndrome.

If you are thinking about becoming pregnant and you're at risk for
having a child with Down syndrome, you may want to see
a geneticist or genetic counselor. They can help you understand your
risk and work with you on genetic testing.
Symptoms

Distinctive facial features, such as a flat face, small ears,

slanting eyes, and a small mouth.

A short neck and short arms and legs.

Low muscle tone and loose joints. Muscle tone usually improves
by late childhood.

Below-average intelligence.
heart, intestine, ear, or breathing problems
airway (respiratory) infections or hearing loss. But most of these
problems can be treated
Call a doctor immediately if:

Your baby or very young child with Down syndrome shows

signs of:
o Intestinal blockage, such as severe belly pain, vomiting,
and possibly swelling of the stomach.
o

Heart problems, such as bluish discoloration of the lips

and fingers, difficulty breathing, or a sudden change in
eating or activity level.

A person of any age with Down syndrome shows symptoms of

dislocated neck bones. This condition often occurs after an
injury. Symptoms may include:

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Down Syndrome
o

Neck pain.

Limited neck movement.

Weakness in the arms and legs.

Difficulty in walking.

A change in bowel or bladder control.

Call a doctor if a person with Down syndrome:

Face shape and

features

Health problems

Acts differently or stops doing things that he or she used to.

These may be a sign of pain or an illness.

Shows signs of mental health issues, such

as anxiety or depression. Depression may be triggered by a big
change or loss, such as the death of a family member or a
change in a caregiver

Slanted eyes. The doctor may also notice small spots on the
colored part of the eye (iris).

A nasal bridge that looks pushed in. The nasal bridge is the flat
area between the nose and eyes.

Small ears. And they may be set low on the head.

Irregularly shaped mouth and tongue. The child's tongue may

partly stick out. The roof of the mouth (palate) may be narrow
and high with a downward curve.

Irregular and crooked teeth. Teeth often come in late and not in
the same order that other children's teeth come in.
Intellectual disability. Most children with Down syndrome have
mild to moderate cognitive disability.

Heart defects. About half of the children who have Down

syndrome are born with a heart defect.

Hypothyroidism, celiac disease, and eye conditions.

Respiratory infections, constipation, hearing problems, or

dental problems.

Depression or behavior problems associated

with ADHD or autism.

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Down Syndrome
How to diagnose
Down syndrome?

Screening tests, such as an ultrasound or a blood test during

your first or second trimester. These can help show if the
developing baby (fetus) is at risk for Down syndrome. But these
tests sometimes givefalse-positive or false-negative results.

Diagnostic tests, such as chorionic villus

sampling or amniocentesis. These can show if a baby has Down
syndrome. You may want to have these tests if you have
abnormal results from a screening test or if you are worried
about Down syndrome
Testing during pregnancy

Exams and Tests

There are two types of tests for birth defects: screening and diagnostic.
You may decide to have:

A screening test. This can show the chance that a baby has
Down syndrome. It can't tell you for sure that your baby has it.
If the test result is "positive," it means that your baby is
more likely to have Down syndrome. So your doctor may
want you to have a diagnostic test to make sure. If the
screening test result is "negative," it means that your baby
probably doesn't have Down syndrome. But it doesn't
guarantee that you will have a normal pregnancy or baby.

A diagnostic test. This test can show if a baby has Down

syndrome.
Diagnosis after birth

If Down syndrome was not diagnosed before your baby was born,
doctors can often get a clear sense of whether your child has Down
syndrome by how your baby looks and by doing a physical exam. But
traits can be subtle in a newborn, depending on the type of Down
syndrome that he or she has.
To confirm a diagnosis, a newborn will have a blood sample taken for
chromosomal analysis, called a karyotype test.
What Happens next?

Babies
Your baby may reach growth and development milestones later than
other children do. These may include rolling over, sitting, standing,
walking, and talking.
Children
In this age group, health problems and developmental disabilities can
lead to behavior problems. For example, a child may

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Down Syndrome
develop oppositional defiant disorder in part because he or she does
not communicate well or understand others' expectations.
Teens
Puberty starts at about the same ages for teens with Down syndrome
as for other teens.
They may face social difficulties and vulnerabilities, such as abuse,
injury, and other types of harm. They may also have a hard time
handling strong emotions and feelings. Sometimes these
struggles can lead to mental health problems, especially
depression.
Adults

Prevention

Men with Down syndrome most often are sterile and cannot father
children. Many women with Down syndrome can have children, and
they usually have early menopause.
Down syndrome cannot be prevented