October is Down Syndrome Awareness Month – a time to celebrate people with Down syndrome and raise awareness of their abilities and accomplishments.
Down syndrome is one of the most common types of intellectual disabilities. So it’s fitting that each October, we recognize Down Syndrome Awareness Month to raise public awareness about the condition and to advocate for acceptance and inclusion of people with Down syndrome.
People with Down syndrome are just like everyone else. They have similar dreams and goals, and they want to have successful careers and families. They can drive, go to work, go to college, go on dates, get married and contribute to society. They can also participate in sports, as proven every year since 1968 in the Special Olympics.
What is Down syndrome?
Down syndrome is named after Dr. John Langdon Down, an English physician who was the first to identify the disorder from its common traits in 1866. Later, Dr. Jerome Lejeune discovered that Down syndrome is a genetic condition in which a person is born with an extra chromosome, the “packages” of genes that determine how our bodies form and function. A baby is typically born with 46 chromosomes, but a baby with Down syndrome has three copies of one of those chromosomes – chromosome 21 – instead of two.
The extra copy of chromosome 21 changes how a baby’s body and brain develop, which can cause mental and physical differences. Physical development in children with Down syndrome is often slower than other children, and it may take them longer to reach developmental milestones, but they will eventually meet all or most of them. The physical symptoms of Down syndrome vary from person to person, but they commonly include:
- A flattened facial profile, especially the bridge of the nose.
- A short neck, with excess skin at the back of the neck.
- Small head, ears and mouth.
- Decreased or poor muscle tone or loose joints.
- Almond-shaped, upward-slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye.
- A single crease across the palm of the hand.
- A deep groove between the first and second toes.
Down syndrome can also cause intellectual and developmental symptoms that lead to cognitive impairment, which means challenges with thinking and learning. Like the physical symptoms, they vary and usually range from mild to moderate. Some common cognitive problems include:
- Short attention span.
- Poor judgment.
- Impulsive behavior.
- Slow learning.
- Delayed language and speech development.
How many babies are born with Down syndrome?
According to the Centers for Disease Control and Prevention (CDC), approximately 6,000 babies are born with Down syndrome each year in the U.S., or about one in 691 births, and there are currently more than 400,000 Americans living with Down syndrome in the U.S. Some estimates put the worldwide population of people with Down syndrome at more than 6 million.
While the cause remains unknown, Down syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U.S. and around the world. All that is known for certain is that the condition is caused by a random error in cell division that occurs during the formation of an egg or sperm. No action by the parents or environmental factor is known to cause this, and it occurs across all racial and economic groups.
One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than younger women. However, the majority of babies with Down syndrome are born to mothers younger than 35 because there are many more births among younger women.
The good news is that the life expectancy of a person with Down syndrome is now about 60 years, where as recently as 1983, the average lifespan of a person with Down syndrome was 25 years. According to the Global Down Syndrome Foundation, that increased lifespan is due largely to the fact that people with Down syndrome are no longer institutionalized.
How is Down syndrome diagnosed and treated?
The diagnosis can be made after birth, from the baby’s physical appearance. A blood test to check chromosomes will confirm the diagnosis.
During pregnancy, there are two basic types of tests available to detect Down syndrome: screening and diagnostic tests. Screening – which often includes a combination of a blood test and an ultrasound – does not provide an absolute diagnosis, but it can help determine the baby’s risk of Down syndrome, and it’s safer for the mother-to-be and her developing baby. Diagnostic tests – which are usually performed after a positive screening test – can typically confirm whether or not a baby will have Down syndrome, but they can be riskier for the mother and developing baby. Types of diagnostic tests performed during pregnancy include:
- Chorionic villus sampling (CVS) – examines material from the placenta.
- Amniocentesis – examines the amniotic fluid (the fluid from the sac surrounding the baby).
- Percutaneous umbilical blood sampling (PUBS) – examines blood from the umbilical cord.
The healthcare provider may also do tests for heart defects as well as other health problems common among children with Down syndrome, including hearing loss, obstructive sleep apnea, ear infections and eye diseases.
Down syndrome is a lifelong condition. Once it’s diagnosed, early intervention for babies with Down syndrome is very important. The appropriate physical and speech therapies for the first five years can make a major difference for that child’s physical and intellectual development.
In addition, many of the medical and developmental issues associated with Down syndrome can be helped. In some cases, for example, surgery may be successful in correcting heart and digestive problems. Physical therapy and special education can help children control their muscles and develop social skills. Many children with Down syndrome can achieve a high level of functioning and even independence.
Want to learn more?
For more information on Down syndrome, visit these helpful links:
- Learn more about the causes, symptoms and treatments for Down syndrome – as well as “do’s and don’ts” for managing the condition – in this link from Carle Health.
- Read more about Down syndrome in this blog from Reid Health.
- Discover multiple helpful resources about Down syndrome at this link from MultiCare Yakima Memorial Hospital.