When Joy and I were first learning about Down syndrome, we first learned there was a lot of misinformation and misunderstandings about the syndrome and the people that have this condition. Now that John is old enough to take out in public and just like all babies, they are often center attraction. This is great and we enjoy showing him off but the issue of Down syndrome comes up regularly in conversation. So for the sake of trying to get accurate information to you, I would like to list some Myths and Truths that pertain to the syndrome.
Myth:Down syndrome is a rare genetic disorder.
Truth: Down syndrome is the most commonly occuring genetic condition. One of every 800 to 1,000 live births is a child with Down syndrome.
Myth:Most children with Ds are born to older parents.
Truth:Eighty percent of children born with Ds are born to women younger than the age of 35 due to the higher fertility rates.
Myth:People with Ds have severe cognitive delays.
Truth:Most people with Ds have cognitive delays that are mild to moderate. IQ is not an adequate measure of the functional status of people with Ds. People with Ds have great potential if given opportunities.
Myth:People with Ds cannot form interpersonal relationships, marry or have children.
Truth:People with Ds date and marry and it is possible for women with Ds to have children. There is a 50 percent chance that the child will have Ds. While extremely rare, men with Ds can father children.
Myth:People with Ds have a short life span.
Truth:Life expectancy for people with Ds has increased dramatically in recent years. Most reach 55 years or older depending upon medical issues.
Down Syndrome Facts:
What is Down Syndrome?
Down syndrome is a chromosomal disorder that includes a combination of birth defects. Affected individuals have some degree of mental retardation, characteristic facial features and, often, heart defects and other health problems. The severity of these problems varies greatly among affected individuals.
What causes Down syndrome?
Down syndrome is caused by extra genetic material from chromosome 21. Chromosomes are the structures in cells that contain the genes.Each person normally has 23 pairs of chromosomes, or 46 in all. An individual inherits one chromosome per pair from the mother's egg and one from the father's sperm. When an egg and sperm cell join together, they normally form a fertilized egg with 46 chromosomes. Sometimes something goes wrong before fertilization. A developing egg or sperm cell may divide incorrectly, sometimes resulting in an egg or sperm cell with an extra chromosome number 21. When this cell joins with a normal egg or sperm cell, the resulting embryo has 47 chromosomes instead of 46. Down syndrome also is called trisomy 21 because affected individuals have three number 21 chromosomes, instead of two. This type of error in cell division causes about 95 percent of the cases of Down syndrome (2).
Occasionally, before fertilization, a part of chromosome 21 breaks off during cell division and becomes attached to another chromosome in the egg or sperm cell. The resulting embryo may have what is called translocation Down syndrome. Affected individuals have two normal copies of chromosome 21 plus extra chromosome 21 material attached to another chromosome. This type of error in cell division causes about 3 to 4 percent of the cases of Down syndrome (2). In some cases, the parent has a rearrangement of chromosome 21, called a balanced translocation, which does not affect his or her health.
About 1 to 2 percent of individuals with Down syndrome have a form called mosaicism (2). In this form, the error in cell division occurs after fertilization. Affected individuals have some cells with an extra chromosome 21 and others with the normal number.
What health problems might a child or adult with Ds have?
The outlook for individuals with Down syndrome is far brighter than it once was. Most of the health problems associated with Down syndrome can be treated, and life expectancy is now about 55 years (1). Individuals with Down syndrome are more likely than unaffected individuals to have one or more of the following health conditions:
- Heart defects. Almost half of babies with Down syndrome have heart defects (2). Some defects are minor and may be treated with medications, while others require surgery. All babies with Down syndrome should be examined by a pediatric cardiologist, a doctor who specializes in heart diseases of children, and have an echocardiogram (a special ultrasound examination of the heart) in the first two months of life so that heart defects can be treated (1,2).
- Intestinal defects. About 12 percent of babies with Down syndrome are born with intestinal malformations that require surgery (2).
- vision problems. More than 60 percent of children with Down syndrome have vision problems, including crossed eyes (esotropia), near- or far-sightedness and cataracts (2). Glasses, surgery or other treatments usually can improve vision. A child with Down syndrome should be examined by a pediatric ophthalmologist (eye doctor) within the first six months of life and have regular vision exams (2).
- Hearing loss. About 75 percent of children with Down syndrome have some hearing loss (2). Hearing loss may be due to fluid in the middle ear (which may be temporary), a nerve or both. Babies with Down syndrome should be screened for hearing loss at birth or by 3 months of age. They also should have regular hearing exams so any problems can be treated before they hinder development of language and other skills (2).
- Infections. Children with Down syndrome tend to have many colds and ear infections, as well as bronchitis and pneumonia. Children with Down syndrome should receive all the standard childhood immunizations, which help prevent some of these infections.
- Thyroid problems, leukemia and seizures (3)
- Memory loss. Individuals with Down syndrome are more likely than unaffected individuals to develop Alzheimer's disease (characterized by progressive memory loss, personality changes and other problems). Adults with Down syndrome tend to develop Alzheimer's disease at an earlier age than unaffected individuals. Studies suggest that about 25 percent of adults with Down syndrome over age 35 have symptoms of Alzheimer's disease (1).
Some individuals with Down syndrome may have a number of these problems, while others may have none. The severity of these conditions varies greatly.
What can a child with Down syndrome do?
Children with Down syndrome usually can do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. However, they generally start learning these things later than other children.
The exact age that these developmental milestones will be achieved cannot be predicted. However, early intervention programs beginning in infancy can help these children achieve their developmental milestones sooner.
Can a child with Down syndrome go to school?
Yes. There are special programs beginning in the preschool years to help children with Down syndrome develop skills as fully as possible. Along with benefiting from early intervention and special education, many children are integrated into the regular classroom. Many affected children learn to read and write, and some graduate from high school and go on to post-secondary programs or college. Individuals with Down syndrome participate in diverse childhood activities both at school and in their neighborhoods.
While there are special work programs designed for adults with Down syndrome, many people with the disorder hold regular jobs. Today, an increasing number of adults with Down syndrome live semi-independently in community group homes where they take care of themselves, participate in household chores, develop friendships, partake in leisure activities and work in their communities.
- National Down Syndrome Society. Information Topics.
- American Academy of Pediatrics Committee on Genetics. Health Supervision for Children with Down Syndrome. Pediatrics, volume 107, number 2, February 2001, pages 442-449.