DOWN SYNDROME What is Down Syndrome?

Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies.

The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives.

Though Down syndrome can't be prevented, it can be detected before a child is born.

What are the signs and symptoms of Down syndrome?

Even though Down syndrome may have few physical and mental features in common, symptoms can range from mild to severe. Usually, mental development and physical development are slower in them than in those without the condition.

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
  • 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
  • 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.

    Who is at risk for Down syndrome?

    The possibility of having a baby with Down syndrome rises 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 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.

    Once the baby is born, a blood test can confirm whether the baby has Down syndrome.