Down Syndrome
Menstuff® has compiled information and books on the issue of
Down Syndrome.
Down Syndrome
What is a chromosomal
abnormality?
Types of Down Syndrome
Did we do something wrong?
What does my baby look like?
Associated medical
problems
Developmental delays and
hypotonia
Help and advice
Where do we go from here?
Newsbytes
Resources
Down Syndrome
Down syndrome is one of the most frequently occurring and
well-publicized of all chromosomal abnormalities. It occurs once in
every 800 to 1,000 live births. Early intervention is the key to
maximizing your child's developmental and learning potential.
What is Down syndrome, and what impact will it have on the
affected child and family? Knowledge of this disorder and its
implications is important to ensure prompt intervention. Early
intervention is the key to maximal developmental and learning
potential for your child and family.
What is a chromosomal abnormality?
Chromosomes are structures carried inside each of our cells. They
contain a specific genetic code of hereditary information. Each
person normally has 46 chromosomes: a set of 23 from each parent. The
uniqueness of this genetic code makes the physical appearance of each
person different. The only exception to this is identical twins. When
the chromosomes are altered in number or composition, there are
physical changes associated.
Down syndrome is caused by a person having an extra copy of the
twenty-first chromosome. This is why Down syndrome is also referred
to as Trisomy 21. All the chromosomes of the person are normal; it is
the extra copy of chromosome twenty-one that causes the syndrome.
This extra chromosome can be present in three different ways.
Types of Down Syndrome
There are three different types of Down syndrome: Standard Trisomy
21, Translocation, and Mosaicism.
Standard Trisomy 21 occurs when the extra chromosome comes from
either the egg or the sperm. There is an extra identical copy of the
chromosome in each cell. Ninety to ninety-five percent of all cases
of Down syndrome are this type.
Translocation occurs when the extra chromosome attaches itself to
another chromosome. It does not join the other two number twenty-one
chromosomes. The extra genetic material in the cell is the same,
leading to the same clinical picture as standard Trisomy 21. This
accounts for three to five percent of Down syndrome cases.
Mosaicism occurs when some cells, but not all the cells in the
body, contain the extra twenty-first chromosome. As a result, these
individuals may exhibit none, some, or all of the characteristics of
Down syndrome. This occurs in two to five percent of cases.
Did we do something wrong?
There is nothing that can be done to prevent Down syndrome, and
nothing that can be done to change the odds of having a child with
Down syndrome. The only link is advancing maternal age, with a sharp
rise in risk at thirty-five to forty years of age. But eighty percent
of all children with Trisomy 21 are born to Moms under thirty-five
years of age. It is estimated that the risk of having a second child
with Down syndrome is about one in 100. This risk is higher if one
parent carries a translocated chromosome.
What does my baby look like?
There are certain physical characteristics that are common in
individuals with Down syndrome. A physician who finds six to ten of
these signs can be almost certain that the infant has the syndrome.
Many of these physical characteristics can be seen isolated in
unaffected children.
- hypotonia (poor muscle tone)
- weak cry
- broad feet with short toes, and a wide space between the big
toe and the other toes
- broad, flat hands with short fingers, single crease across
palm, pinky turns inward
- legs and arms are short in relation to the rest of the
body
- tongue protrudes, mouth is small, and lips are thin
- ears are small, abnormally shaped, and set low
- fontanels are large
- head is small
- face is flat
- small, white patches can be seen on edge of the iris of the
eye
- eye slit is narrow and short, fold of skin at inner side of
the eye, and the eyes have an upward and outward slant
Your child may have weak muscles and the physical characteristics
of their chromosomal abnormality, but they will also look a lot like
the other members of the family.
Associated medical problems
Children with Down syndrome are at higher risk for certain medical
problems. Infections, heart defects, respiratory problems, obstructed
digestive tracts, and childhood leukemia occur more frequently in
these children. Most of these medical problems are treatable, and the
average life expectancy for a person with Down syndrome is fifty-five
years.
Developmental delays and hypotonia
Hypotonia (low muscle tone) has the most profound developmental
effect of the physical characteristics. Your baby may be prone to
difficulties with breathing, sucking, and eating. Hypotonia leads to
delays in motor development. Impressive improvements in motor skills
can be achieved if physical therapy is started in the first weeks of
life. Your baby will learn to do all the things that other children
learn to do, but it will take her a little longer, and she will
require a little more patience on your part. She will achieve all of
the milestones for a growing child in time.
Learning to walk is usually accomplished by two years of age, and
potty training by age five. A one-year-old with Down syndrome will
probably be able to sit by herself, roll over, and feed herself
crackers. Early intervention programs for children with various
developmental disorders are designed to combine physical,
occupational, and speech therapies beginning in the first few weeks
of life. Early intervention is the key to success, and many
individuals with Down syndrome are able to live full and productive
lives.
People with Down syndrome can adapt successfully: attend school,
make friends, find work, and participate in decisions that affect
them. People with Down syndrome have the same emotions and needs as
other people, and deserve all of the same opportunities to become
contributing members of their families and communities.
Help and advice
There is very little concrete information about Down syndrome. The
adults who are alive today who were born with Down syndrome were
hindered by being shunned by society -- little was done to maximize
their potential. Fortunately, times have changed, and help for your
baby should be readily available. Your child has a right to a free
and public education to help her grow and develop. This includes
physical therapy, speech therapy, occupational therapy, and any other
therapies that are necessary for maximizing her potential. Children
exposed to early intervention progress much faster than children who
do not receive intervention. Raising a child with Down syndrome is a
challenge, but so is raising a "normal" child.
Where do we go from here?
A person with Down syndrome is an individual first. Although she may
have some common characteristics, she is unique. Ensuring treatment
and access to services is a struggle that is common to all families
of a child with Down syndrome. These children strive to accomplish
the same goals as everyone else: maximization of their potential,
self-fulfillment, and pride in achievement. The opportunities
available to people with Down syndrome have never been greater.
Acceptance is becoming widespread.
People with Down syndrome venture out into the community, live
with family, friends, or independently, develop relationships and
marry, and go to school or hold jobs. The most important job of the
family of a Down syndrome child is to ensure that she is afforded
every opportunity to achieve her full potential in life.
Source: Lori Semel, M.D.
Newsbytes
Resources
- The Arc of the U.S. The Arc of the United States is the
nation's leading national organization on mental retardation. The
Arc represents over seven million children and adults with mental
retardation and their families. The Arc has over 120,000 members
within approximately 1,000 state and local chapters nationwide.
The Arc provides organizational support to affiliated chapters,
and represents the membership on advocacy and programmatic issues
pertaining to mental retardation. www.thearc.org/
- Association for Children with Down Syndrome, Inc. ACDS
is a parent-founded early intervention program whose basic premise
is that early intervention is critical in the lives of children
with Down syndrome. www.acds.org/
- National Association For Down Syndrome. NADS, a
not-for-profit organization, was founded in Chicago in 1961 by
parents of children with Down syndrome who felt a need to create a
better environment and bring about understanding and acceptance of
people with Down syndrome. www.nads.org/
- National Down Syndrome Society, NDSS. A comprehensive,
on-line information source about Down syndrome. Through education,
research and advocacy, the National Down Syndrome Society works to
ensure that all people with Down syndrome have the opportunity to
achieve their fullest potential. www.ndss.org/
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