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GENERAL INFO

Be Informed! Answers to the most common questions about Down Syndrome:

BY ERNEST ROTHMAN, M.S. SPECIAL EDUCATION


WHAT IS DOWN SYNDROME?

Down syndrome is a chromosome disorder caused by an error in cell division called nondisjunction. Normally, every human cell contains two pairs of 23 different chromosomes numbered one through twenty three. In people born with Down Syndrome, there are three copies of Chromosome #21 (which is why it this condition is also called Trisomy 21). This extra chromosome affects the normal development and function of the body and brain.

HOW AND WHY DOES DOWN SYNDROME OCCUR?
Scientists do not yet know why this error in cell division occurs. They do however know that it occurs at the moment of conception when the reproductive cells, the sperm and ovum, combine to form a fertilized egg. When the fertilized egg contains extra material from chromosome number 21, this results in Down syndrome.

WHY IS IT CALLED DOWN SYNDROME?
Dr. John Langdon Haydon Down (November 18, 1828 - October 7, 1896) was an English physician and geneticist who wrote extensively about this condition and its characteristics. The syndrome was later named Down Syndrome after Dr. Down. However it was not until 1959 that Dr. Jérôme Jean Louis Marie Lejeune of France (1926-1994) discovered the extra chromosome 21 which was the underlying abnormality in Down Syndrome.

HOW AND WHEN IS A DIAGNOSIS OF DOWN SYNDROME MADE?
Down syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. The diagnosis must be confirmed by a chromosome study known as a Karyotype. A Karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.

WHAT ARE THE PHYSICAL SIGNS OF DOWN SYNDROME?
Some of the common physical signs of Down syndrome may include:

  • A flat face with an upward slant to the eye
  • A short neck
  • Abnormally shaped ears
  • A deep crease in the palm of the hand
  • White spots on the iris of the eye
  • Poor muscle tone & loose ligaments
  • Small hands and feet

    ARE THERE SERIOUS HEALTH CONDITIONS INVOLVED WITH DOWN SYNDROME?
    Many children with Down syndrome have health complications beyond the usual childhood illnesses. There are a variety of health conditions that are often seen in people who have Down Syndrome which can include:

  • Congenital heart disease
  • Hearing problems
  • Intestinal problems such as blocked small bowel or esophagus
  • Celiac disease
  • Eye problems such as cataracts
  • Thyroid dysfunctions
  • Skeletal problems
    Dementia similar to Alzheimer’s Children with Down syndrome also usually have a higher incidence of infections and respiratory problems. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives.

    WHAT ARE THE DEVELOPMENTAL SYMPTOMS OF DOWN SYNDROME?
    Many people with Down Syndrome share some common symptoms. Generally speaking, children with Down Syndrome are slower in their mental and physical development. However developmental symptoms can range from mild to severe. Most people with Down syndrome have IQs that fall in the mild to moderate range of mental retardation, which places limits on their intellectual abilities and behavioral skills that are needed in daily function. They may also have delayed language and motor development.

    HOW OFTEN IS A CHILD BORN WITH DOWN SYNDROME SYNDROME?
    Of all the genetic disorders with chromosomal abnormalities, Down Syndrome has the highest rate of occurrence. Worldwide, approximately 1 in 800 live births resulted in Down Syndrome. In the United States, according to some studies there are more than 350,000 individuals with Down syndrome. In addition, Trisomy 21 is the cause of about 25% of all miscarriages.

    WHAT ARE THE STATISTICAL CHANCES OF GIVING BIRTH TO A CHILD WITH DOWN SYNDROME?
    The chance of having a baby with Down syndrome increases as a woman gets older.
    A woman of 25 stands about a 1 in 1,250 risk of giving birth to a child with Down Syndrome.
    A woman who is 25-35 years old has an increased overall risk of 1 in 350.
    At age 40, the risk increases to about 1 in 100.
    At age 45, the risk increases to about 1 in 30.

    ARE MOST BABIES WITH DOWN SYNDROME BORN TO MOTHERS WHO ARE OLDER?
    Although the risk of having a baby with Down Syndrome does increase significantly after age 35, the majority of babies born with Down Syndrome (80%) are born to mothers under age 35 because overall more younger women have babies. Because the chances of having a baby with Down syndrome increase with the age of the mother, many health care providers recommend that women over age 35 have prenatal testing for the condition. Testing the baby before it is born to see if he or she is likely to have Down syndrome allows parents and families to prepare for the baby’s special needs. Parents who have already have a baby with Down syndrome or who have abnormalities in their own chromosome 21 are also at higher risk for having a baby with Down Syndrome.

    WHY IS DOWN SYNDROME SOMETIMES REFERRED TO AS “MONGOLISM”
    Professor Down was a Darwinist. He attempted to find a relationship between mental retardation and race. He theorized that since there seemed to be a resemblance in characteristics of Down Syndrome to the Mongolian people, they must surely be of the Mongol race. Today everyone agrees that this term is totally obsolete and should be discarded from our language. Down Syndrome has no relationship to race, nationality, religion, or socio-economic status.

    IS DOWN SYNDROME HEREDITARY?
    There are 46 chromosomes which are arranged in 23 pairs in each cell of the human body. In 95% of cases, due to a cell division error pair number 23 has three chromosomes instead of the normal two. This type of Down Syndrome is not linked to any hereditary factors. The remaining 5% of cases may possibly be hereditary.

    CAN DOWN SYNDROME OCCUR FROM SOMETHING THE MOTHER DID DURING PREGNANCY?
    Down Syndrome is an abnormality that occurs at the moment of conception. Although scientists are still studying the reasons why it occurs, it is clearly not a result the mother may have done during pregnancy.

    WHAT IS THE LIFE EXPECTANCY OF A CHILD WITH DOWN SYNDROME? At the turn of the twentieth century most children born with Down Syndrome died in early childhood, primarily due to heart disease, leukemia, and other serious illnesses. In recent years there have been many medical breakthroughs in the treatment of these conditions. Although the average lifespan varies, life expectancy today of a person with Down Syndrome will be fifty-five and beyond.

    ARE CHILDREN WITH DOWN SYNDROME HOPELESSLY RETARDED?
    All individuals with Down Syndrome will have some degree of mental deficiency. This can range from very mild to profound. The average range however, is in the mild to moderate range which will still allow the child with Down Syndrome to develop into a self-supportive and fully functioning human being. It is important to remember that while children and adults with Down syndrome experience developmental delays and, they also have many talents and gifts and should be given the opportunity and encouragement to develop them. Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children may have more significant needs and require a more specialized program. Some high school graduates with Down syndrome will be able to participate in post-secondary education. Many adults with Down syndrome are capable of working in the community.

    SHOULD CHILDREN WITH DOWN SYNDROME BE INSTITUTIONALIZED?
    Most children with Down Syndrome can be educated within a school system, learn academic and vocational skills, and perform independent living activities. They can also enjoy sports, music, drama, dancing, and games, and social life. For several decades now the trend in many countries has been moving away from institutionalization. Children living at home can attain a much higher IQ, and can function much better independently. Parental love and care have a major impact on a child’s development.

    CAN PEOPLE WITH DOWN SYNDROME MARRY AND HAVE CHILDREN?
    Some people with Down syndrome marry. It is not uncommon for women with Down Syndrome to bear children. They will however run the risk of giving birth to a child with the same disorder. In any pregnancy, a woman with Down syndrome has a 50/50 chance of conceiving a child with Down syndrome, although many such pregnancies are miscarried. Men with Down Syndrome generally cannot father a child, although there have been some documented exceptions.

    WHAT IS THE TREATMENT FOR DOWN SYNDROME?
    Down syndrome is not a condition that can be cured. However, early intervention can help many people with Down syndrome live productive lives well into adulthood. Children with Down syndrome can benefit greatly from speech therapy, occupational therapy, and exercises for gross and fine motor skills. They might also be helped by special education and attention at school. Many children can integrate well into regular classes at school.

    CAN PEOPLE WITH DOWN SYNDROME LIVE AND INTEGRATE INTO SOCIETY?
    They definitely can – as long as society gives them the opportunity!