What is down Syndrome?
Down syndrome is set of mental and physical symptoms that result from having an extra copy of Chromosome 21. Normally, a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of Chromosome 21 (also called trisomy 21 because there are three copies of this chromosome instead of two), which changes the body’s and brain’s normal development.
(For more information on chromosomes, see Cells 101.)
What are the signs and symptoms of Down syndrome?
Even though people with Down syndrome may have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Down syndrome than in those without the condition.Intellectual and Developmental Disabilities (IDDs) is a disability that causes limits on intellectual abilities and adaptive behaviors (conceptual, social, and practical skills people use to function in everyday lives). Most people with Down syndrome have IQs that fall in the mild to moderate range of IDDs. They may have delayed language development and slow motor development.
Some common physical signs of Down syndrome include:
Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
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
There are a variety of other health conditions that are often seen in people who have Down syndrome, including:
Congenital heart disease
Intestinal problems, such as blocked small bowel or esophagus
Eye problems, such as cataracts
Dementia—similar to Alzheimer’s
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 often benefit 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. For more information about treatments for Down syndrome, visit one of the Web sites provided below or ask your health care provider.
Who is at risk for Down syndrome?
The chance of having a baby with Down syndrome increases as a woman gets older—from about 1 in 1,250 for a woman who gets pregnant at age 25, to about 1 in 100 for a woman who gets pregnant at age 40. But, most babies with Down syndrome are born to women under age 35 because 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.
Once the baby is born, a blood test can confirm whether the baby has Down syndrome.