Down Syndrome
What is Down syndrome?
Down syndrome is a genetic disorder that occurs when there is an extra copy of chromosome 21 in the body's cells. It is the most common chromosomal disorder, affecting approximately 1 in every 700 babies born in the United States.
Who's at risk for Down syndrome?
Down syndrome can occur in people of all races and ethnicities, but the risk increases with maternal age. Women who are 35 years or older at the time of delivery are at higher risk of having a baby with Down syndrome.
What causes Down syndrome?
Down syndrome is caused by an error in cell division that results in an extra copy of chromosome 21. This can occur in one of three ways:
- Trisomy 21: the most common form of Down syndrome, in which there are three copies of chromosome 21 in every cell of the body
- Mosaicism: a rare form of Down syndrome, in which there is an extra copy of chromosome 21 in some, but not all, cells of the body
- Translocation: a rare form of Down syndrome, in which part of chromosome 21 breaks off and attaches to another chromosome, resulting in extra genetic material
How does Down syndrome start?
Down syndrome occurs at the time of conception, when there is an error in cell division that results in an extra copy of chromosome 21. This extra genetic material can affect the development of the body and brain.
What are the symptoms of Down syndrome?
The symptoms of Down syndrome may vary depending on the severity of the condition, but may include:
- Intellectual disability
- Delayed development of speech and language skills
- Low muscle tone
- Congenital heart defects
- Eye abnormalities, such as cataracts or strabismus
- Gastrointestinal problems, such as gastroesophageal reflux or constipation
- Increased risk of infections, such as pneumonia or ear infections
How is Down syndrome diagnosed?
Down syndrome can be diagnosed before or after birth. Prenatal testing, such as chorionic villus sampling or amniocentesis, can detect the presence of an extra copy of chromosome 21 in the developing fetus. After birth, a healthcare provider may order genetic testing, such as a karyotype or FISH test, to confirm the diagnosis.
How can Down syndrome be treated?
There is no cure for Down syndrome, but treatment can help manage symptoms and improve quality of life. Early intervention programs, such as speech therapy and occupational therapy, can help children with Down syndrome develop language, social, and motor skills. Medical interventions, such as surgery to correct congenital heart defects, may be necessary to address specific health concerns.
What complications may occur with Down syndrome?
People with Down syndrome may be at increased risk for a range of health complications, including:
- Congenital heart defects, which may require surgery
- Respiratory problems, such as sleep apnea or pneumonia
- Vision or hearing problems
- Gastrointestinal problems, such as constipation or gastroesophageal reflux
- Increased risk of infections
How can I prevent Down syndrome?
Down syndrome is a genetic disorder that cannot be prevented. However, prenatal testing can detect the presence of an extra copy of chromosome 21 in the developing fetus, and parents may choose to undergo testing to assess their risk.
Long-term management of Down syndrome
Managing Down syndrome over the long term involves ongoing monitoring of health and development, regular healthcare provider visits, and support from a healthcare team that specializes in the care of people with the condition.
What is recent research saying about Down syndrome?
Recent research in Down syndrome has focused on developing new treatments and therapies to improve symptoms and quality of life. Some of the promising areas of research include:
- Cognitive interventions, such as computer-based training or pharmacological therapies, that may help improve cognitive function and behavior in people with Down syndrome
- Early intervention programs that focus on language development and socialization skills
- Novel therapies, such as gene therapies or stem cell therapies, that may help address specific health concerns associated with Down syndrome
Where can I go for more information on Down syndrome?
If you or someone you know has been diagnosed with Down syndrome, it is important to seek help from a healthcare provider who specializes in the care of people with the condition. The following organizations also provide information and resources on Down syndrome:
