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.

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.

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