Down Syndrome

Down syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children. Each year, about 6,000 babies born in the US have Down syndrome. Better understanding of Down syndrome and early interventions could significantly improve the quality of life for children and adults with this disorder.

What causes Down syndrome?

In every cell in the human body there is a nucleus where genetic material is stored. Our genes are grouped into chromosomes, which carry the codes responsible for all our inherited traits. Normally, the nucleus contains 23 pairs of chromosomes, one copy of each chromosome from each parent.

Sometimes a problem with cell division very early during development of the fetus can lead to an extra copy of chromosome 21. This extra copy changes how the baby's body and brain develop, leading to both mental and physical challenges.

Although we don't know exactly what cause the extra chromosome to develop, we do know that there is an increased risk of having a baby with Down syndrome as women get older. However, due to the higher birth rates in younger women, 51% of children with Down syndrome are born to women under 35 years of age.

What are the symptoms of Down syndrome?

While there are some distinctive features of Down syndrome, each person with the condition is an individual. Their developmental and intellectual problems range from mild to severe. Some people have significant health problems, while others are very healthy. Here are some of the most common features of Down syndrome:

• Small head with relatively flattened face and a short neck
• Upward slanting eyes
• Unusually shaped or small ears
• Protruding tongue
• Poor muscle tone
• Short height
• Small hands and feet and relatively short fingers with a single crease in the palm

Intellectual disabilities associated with Down syndrome may include:

• Cognitive impairment, which can be mild to severe
• Delayed language development
• Problems with both short and long-term memory

What are the health complications that can happen with Down syndrome?

• Heart defects – Present at birth and can vary from mild to severe and life-threatening
• GI tract problems
• Immune disorders
• Sleep apnea
• Obesity
• Spinal problems
• Higher risk of leukemia than other children
• Dementia – There is a significant risk of developing dementia starting around age 50.
• Hearing problems and frequent ear infections

How is Down syndrome diagnosed?

Down syndrome is usually suspected at birth by the presence of the typical physical features. A chromosomal analysis is done to confirm the diagnosis using a sample of the baby's blood.

Prenatal testing is also available. Find out more by following this link: National Association for Down Syndrome | Prenatal Testing and Diagnosis (nads.org)

How is Down syndrome treated?

Down syndrome is a lifelong condition that cannot be cured. Treatment is focused on each individual's specific health problems and developmental and mental challenges. Services early in life can help babies and children with Down syndrome to improve their physical and intellectual abilities. They focus on helping children develop to their full potential. These services include:

• Speech therapy
• Occupational therapy
• Physical therapy
• Extra help or attention in school, although many children are included in regular classes

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Dr. Anita Bennett MD - Health Tip Content Editor