What is Down
syndrome?
Down syndrome is a genetic disorder which
means that there is a problem with a person's chromosomes.
Most people have a total of 46 chromosomes. Most children
with Down syndrome have a total of 47 chromosomes. Down
syndrome results from this extra genetic material.
Scientists are still learning about what causes this extra
genetic material and exactly how it causes the problems of
Down syndrome.
Down syndrome is the most common disorder of
human chromosomes. It may be diagnosed before birth, or
shortly after birth during a baby's first physical exam.
How is it
diagnosed?
The diagnosis before birth is based on lab
test results and ultrasound measurements of the fetus. The
diagnosis after birth is usually based on how the child
looks. Eyes often have a slant to the openings and extra
skin at the middle corner. The mouth tends to stay open with
the tongue sticking out. Muscle tone is usually low, making
the arms and legs more relaxed. The diagnosis is always
confirmed by a chromosome test.
How will my
child grow and develop?
Growth and development is unique to every
child. Children learn to walk, run, use their hands and
eyes, understand language, speak, think, and solve problems
at different rates. Children with Down syndrome do all of
these things too. However, children with Down syndrome
generally grow more slowly, learn more slowly, and have more
trouble with reasoning and judgment than other children.
They often have a short attention span. Many are very
impatient and get easily frustrated and angry.
Growth and developmental milestones unique
to children with Down syndrome have been developed and are
available.
As your child reaches adolescence, he or she
will become more aware of his or her limitations. Emotional
problems sometimes occur at this age. Your child may need
extra help learning how to control sexual impulses. Doctors
believe that a child's emotional health is best supported by
staying involved in mainstream home, school, and community
activities.
How do I care
for my child?
Children with Down syndrome can have many
health problems. Some have a heart problem at birth or later
in life. As your child grows older, he may have vision,
hearing, bone, joint, hormone, or dental problems. Because
of these problems, a child with Down syndrome needs more
medical and dental care and educational help to reach his or
her full potential.
- Feeding
Breast-feeding a baby with Down syndrome
is usually successful and helps the baby's ability to
fight infection.
Children with Down syndrome tend to have
a small mouth and smooth, flat tongue. This may cause
spilling of liquids out of the side of the mouth. This
problem usually goes away during infancy as tongue
control improves.
Make sure your baby is fully awake
before feeding. Place pillows underneath the baby during
the feeding. Using a hand to support your child's chin
and throat can sometimes help feeding. Talk to your
doctor if you have additional questions.
- Heart
evaluation
Because many children with Down syndrome
are born with heart defects, your child should be
checked by a pediatric cardiologist soon after birth. A
test called an echocardiogram, which uses sound waves to
create a picture of the heart, is used.
- Thyroid
screening
Babies in nearly all states are tested
in the hospital shortly after birth for low thyroid
hormone levels. This is usually one of several tests
known as the "newborn screen." Children with Down
syndrome sometimes have low thyroid hormone levels.
Thyroid screening tests should be
repeated for children with Down syndrome at 6 months, 12
months, and then each year thereafter.
- Hearing
Many children with Down syndrome have
hearing problems. Often this is due to frequent ear
infections or fluid in the middle ear. There may be
other reasons for poor hearing. Hearing problems may
come and go or be always present. Any cause of hearing
loss should be treated by your doctor. Good hearing
helps with language development.
- Vision
7 of every 10 children with Down
syndrome will need glasses. Around 20% of children with
Down syndrome have eyes that point in slightly different
directions. This needs to be treated. Most children with
Down syndrome need to see an eye doctor at about one
year of age.
- Dental and
oral concerns
The teeth of a child with Down syndrome
usually come in later than the teeth of most children.
The first tooth usually appears between 12 and 48
months. Fifty percent of children with Down syndrome are
missing one or more teeth.
Teeth often will not be in the best
position for chewing. For example, a child may have an
overbite (the upper teeth coming out forward) or a
crossbite (the lower teeth set to one side of the upper
teeth).
For an unknown reason, cavities are less
common. Careful brushing and flossing is nevertheless
needed to prevent cavities and gum disease. Gum disease
is more common in children with Down syndrome.
Children with congenital heart defects
who are going to have a dental procedure performed often
need antibiotic medicine before the procedure.
- Breathing and
sleep apnea concerns
Air passages in the nose, mouth, and
chest are smaller than in children without Down
syndrome. As a result of the narrowing, a number of
problems can occur. Mouth breathing may develop and this
can lead to teeth problems. Snoring may be a sign of a
narrowed airway. Narrowing may become so severe that the
airway becomes blocked, causing air flow to stop. This
problem is known as sleep apnea.
Check with your doctor if your child
snores a lot, especially if they have loud snoring,
followed by silence, a snort, partial awakening, and
then snore again.
- Cervical
(neck) spine x-ray
Between the ages of 3 and 5 years, all
children with Down syndrome should have x-rays of the
upper spine. The x-rays are taken to look for too much
movement of the bones in the upper spine when the neck
is held in different positions.
Dislocation, or slippage, of the bones
in the upper spine is not common but can result in
serious injury. Usually, before an injury, the child
would have several weeks of symptoms such as: neck pain,
head tilt, breathing changes, weakness, or changes in
walking ability. If your child has these symptoms, tell
your doctor so the spine can be checked. A careful neck
exam is important before your child plays in sports.
- Behavior
Ignore outbursts unless your child
becomes destructive. Then use time outs or mild physical
restraint until he is calm. Reward your child for times
when outbursts don't occur. Ask about local Down
syndrome support organizations where parents can share
ideas and experiences.
- Sexuality
Teach your child to not stare at others,
make sexual comments, or touch their private parts in
public.
- Emotional
Health
Help your child deal with his
frustration with his limitations. Suggest other
activities which he can do. Behavioral training programs
may help your child learn how to respond calmly and
appropriately.
- Social
Development
Children with Down syndrome tend to
become dependent on others and need experiences that
encourage independence.
- Unproved
therapies
You will probably hear of many
treatments for children with Down syndrome. They may
range from megavitamin therapy to facial surgery. The
good effects of many of these treatments are unproven
and some may be harmful. Check with your child's doctor
before trying any treatment.
What kind of treatment and therapy will my child need?
Getting therapy and other services started
when your child is young help your child reach his or her
greatest potential. The therapies, along with improved
medical care, parent education, and increased social
acceptance, may explain why people with Down syndrome
generally have better skills and higher levels of
functioning than in past decades.
The professionals who can provide services
include:
- Developmental pediatrician: evaluates
and treats medical factors affecting development.
- Infant educator: helps with thinking
and problem solving skills.
- Pediatric physical therapist: helps
with body movement skills.
- Pediatric occupational therapist:
helps with feeding and hand skills.
- Speech and language therapist: helps
with communication skills.
- Mental health professional: provides
counseling and emotional support.
Often mental health specialists can help design behavioral
training programs. For emotional and behavioral problems,
medicines may help control moods and inappropriate behavior.
What is the
outlook?
The health care needs of children with Down
syndrome are better understood than ever before. Scientists
are improving their understanding of the genetic basis of
the syndrome. Much can be done to prevent and treat medical
problems associated with the syndrome.
Although children with Down syndrome may be
slow in their achievements and must cope with their
limitations, most lead productive, fulfilling lives. You can
help your child reach his or her potential by making sure
your child has regular checkups and receives proper medical
treatment.
Additional information about Down syndrome
is available from many books, on-line services, and parent
and professional organizations.
