DOWN SYNDROME
Hi my name is Megan Rothermel. And I have down syndrome. My disorder has a
heart defect which was repaired with surgery. I was at the age of :five months. When I
was born the doctors did not tell my mom, they took my dad out in the hall and told him.
My dad took my grandma Rothermel out in the hall she was upset. My grandma Faye did
not care how I looked all she wanted to do was hold me.
What is Down Syndrome? Well down syndrome is congenital condition
characterized by moderate to severe mental retardation , slanting of the eyes broad short
skull, bread hands with short fingers. And by trisomy of the human chromosome
numbered 2I also called Down's trisomy 2I. It is a combination of physical abnormalities
and mental retardation chromosome pair 2I.
The genetic defect associated with Down Syndrome is the presence of extra
material on the chromosome pair designated 21. Although other genetic disorders may be
associated with an extra chromosome, only Down Syndrome is characterized by extra
chromosome 2I material. The symptoms ofDown Syndrome can vary widely from child
to child. While some kids with DS need a lot of medical attention. Others lead very healthy
and independent lives.
What Causes Down Syndrome? Normally, at the time of conception a baby
inherits genetic information from its parents in the form of 46 chromosomes: 23 from the
mother and 23 from the father. In most of Down Syndrome, however a child gets an extra
chromosome for a total of 47 chromosomes instead of 46. It's this extra genetic material
that causes the physical and cognitive delays associated with DS. Although no one knows
for sure why DS occurs and there's no way to prevent the thromosomal error that cause
it. Scientists do know that women age 35 and older have a significantly higher risk of
having a child with the condition. At age 30, for example a women has less than a I in
I, 000 chance of conceiving a child with DS. Those odds increase to I in 400 by age 3 5.
By 42 it jumps to about I in 60.
How Does Down Syndrome Affect a Child ? Kids with Down Syndrome tend to
share certain physical features such as a flat facial profile, an upward slant to the eyes,
small ears, a single crease across the center of the palms. and an enlarged tongue. A
doctor can usually tell if a newborn has the condition through a physical exam. Low
muscle tone and loose joints are also characteristic of children with DS and babies in
particular may seem especially" floppy." Though this can and often does improve over
time most children with DS typically reach developmental milestones like sitting up,
crawling and walking later than other kids. At birth kids with DS are usually of average
size, but they tend to grow at a slower rate and remain smaller than their peers. For
infants low muscle tone may contribute to sucking and feeding problems, as well as
constipation and other digestive issues. In toddlers and older children there may be delays
in speech and self-care skills like feeding, dressing, and toilet teaching. Down Syndrome
affects kids cognitive abilities in different ways but most have mild to moderate mental
retardation . Kids with DS can and do learn, and are capable of developing skills
throughout their lives. They simply reach goals at a different pace which is why it's
important not to compare a child with DS with typically developing siblings or even other
children with condition. Kids with DS have a wide range of abilities, and there's no way
to tell at birth what they will be capable of as they grow up.
Medical Problems Associated with Down Syndrome While some kids with DS
have no other health problems others may experience a host of medical issues that require
extra care. For example half of all children born with DS also have congenital heart defects
and are prone to developing pulmonary hypertension (high blood pressure in the lungs). A
pediatric cardiologist can monitor these types of problems ,many of which can be treated
with medication or surgery. Approximately half of all kids with DS also have problems
with hearing and vision . Hearing loss can be related to fluid build up in the inner ear or to
structural problems of the ear itself Vision problems commonly include amblyopia ( lazy
eye) near or farsightedness and an increased risk of cataracts. Regular evaluations by an
audiologist and an ophthalmologist are necessary to detect and correct any problems
before they affect a child's language and learning skills. Other medical conditions that may
occur more frequently in children with DS include thyroid problems intestinal
abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility
to infection and a higher risk of childhood leukemia. Fortunately, many of these conditions
are treatable.
Because they look different some kids may tease or bully kids who have Down
Syndrome. But these kids have feelings just like anybody else. When they get teased it
hurts their feelings. They want to be accepted and have friends. If you know someone with
Down Syndrome you can be a big help by not teasing him or her. Instead offer a helping
hand and a friendly word of encouragement. You might wonder what kids with Down
Syndrome do after they graduate from high school. They often go to work You may have
seen a person with Down Syndrome on the job maybe helping in an office, a grocery store,
or restaurant In fact they are known for their enthusiasm ,reliability , and dedication for all
their hard work they can feel a sense of accomplishment and enjoy spending their
paychecks!
Prental Screening and Diagnosis. There are two types of prental tests available to
detect Down Syndrome in a fetus: screening tests and diagnostic tests. Screening tests
estimate the risk that a fetus has DS diagnostic tests can tell whether the fetus actually has
the condition. Screening tests are non nasive and generally painless. But because they
can"t give a definitive answer as to whether a baby has DS, moatly they''re used to help
parents decide whether to have more diagnostic tests. Diagnostic test are about 99%
accurate in Down Syndrome and other chromosomal abnormalities. However they are
performed inshe the uterus they are associated with a risk of miscarriage and other
complications. For this reason they are generallt recommended only for women age 35 or
older, those with a famly history of genetic defects or those who've had an abnormal
result on a screening test. Ifyou 're unsure about which test, if any is right for you, your
doctor or a genetic conuselor can help you sort through the pros and cons of each.
Screening test include
• Nuchal Translucency Testing this test performed between 11 and 14 weeks of
pregnancy , uses ultrasound to measure the clear space in the folds of tissue behind a
developing baby's neck (babies with DS and other chromosomal abnormalities tend to
accumulate fluid there making the space appear larger.) This measurenemt taken
together with the mother's age and baby's gestational age , can be used to caluculate
the odds that the baby has DS. Nuchal translucency testing correctly detects DS about
80% of the time: when performed with maternal blood test, it may offer greater
accuracy.
• The Triple Screen (also called the multiple marker test) and the alpha fetoprotein plus.
These test measure the quantities of various substances in the mother's blood, and
together with the women's age, estimate the like hood that her baby has Down
Syndrome. They are typically offered between 15 and 20 weeks of pregnancy.
• Adetailed ultasound This is often performed in conjunction and the blood tests ,and it
checks the fetus for some of the physical traits associated with Down
Syndrome.However these screening tests are only about 60% accurate and often lead
to false postive or false negative readings.
Diagnostic Tests include
• Amniocentesis This test performed between 16 and 20 weeks of pregnancy ,involves
the removal of a small amount amniotic fluid through a needle inserted in the
abdomen. The cells can then be analyzed for the presence of chromosomal
abnormalities . Amniocentesis carries a small risk of complications ,such as pretrem
labor and miscarriage.
• Chorionic Villus Sampling (cvs) CVS involves taking tiny sample of the placenta ,also
through a needle inserted in the abdomen . The advantage of this test is that it can be
perormed earlier than amniocentesis , between 8 and 12 weeks. The disadvatngae is
that is carries a slightly greater risk of rniscarrige and other complications.
• Percutaneous Umbilical blood sampling (PUBS) usually performed after 20 weeks,
this tsest a needle to retrieve a small sample of blood from the umbilical cord. It carries
risks similar to those associated amniocentesis.
After a baby is born, a diagnosis of Down Syndrome can usually be made just by looking
at the baby. If the doctor suspects DS, a karyotype a blood or tissue sample stained to
show chromosoms grouped by size, number and shape can be performed to verify the
diagnosis.
Getting Help
If you are a parent of a child dingnoed with Down Syndrome you may first feel
overwhelmed by feelings ofloss ,guilt and fear. Talking with other parents of kids with DS
may help you deal with the initial shock and grief and find ways to look toward the future.
Many parents find that learning as much as they can about DS helps alleviate some of their
fears.
Experts recommend enrolling kids with Down syndrome in early intervention services as
soon as possible after your child is born .Physical, occupation, speech therapists and early
childhood educators can work with your child to develop motor skills, language, and show
how to encourage these skills at home.Many states provide free early intervention
services to kids with disabilities from birth to age 3 so check with your child's doctor or a
social worker to determine what resources are available in your area.
Once your child is 3 years old he or she guamteed educational services under the
Individuals with Disabilties Education Act( IDEA). Under IDEA local school districrs
must provide "a free appropriate education in the least restrictive enviroment and an
Individuallized Education Plan which is an (IEP) for each child.
Where to send your child to school can be difficult decsion. Some kiss with DS have needs
that are best met in a specialized program ,while many others are attending neghbor hood
schools alongside peers who don't have DS studies have shown that this type of situation
known as inclusiion is beneficial for both the child with DS as well as the other children .
Your school district's child study team can work with you to determine what's best for
your child but remember , any decisions can and should involve your input,as your child
best advocate .
Today many children with Down Syndrome grow up going to school and enjoying many
of the same activities as other kids their age. A few go on to college. Many transition to
semi indepentdent living. Still others continue to live at home but are able to hold jobs ,
thus finding their own success in the community.