ABOUT DOWN SYNDROME

What is Down syndrome?

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21, which leads to developmental and physical differences. This condition, also known as trisomy 21, affects approximately 1 in 700 babies born worldwide, making it one of the most common genetic disorders. In fact, there are 450,000 people with Down syndrome in the US alone!

People with Down syndrome may have intellectual differences, but their abilities vary widely. While individuals with Down syndrome may face challenges, they also have unique strengths and talents. With proper support and a strong community, people with Down syndrome can lead rich, fulfilling lives. We now know that with early intervention and support, many individuals with Down syndrome can achieve developmental milestones, attend school, build meaningful relationships and live independently.

Received a diagnosis?

#TheLuckyFew

The term, “The Lucky Few,” comes from a book written by Heather Avis and refers to those of us who are lucky enough to have someone with Down syndrome in our lives. We couldn’t agree more and are proud to be part of #TheLuckyFew!

Nothing Down About It

Down syndrome was named after John Langdon Down, the British physician who first described the condition in 1862. It’s important to note that the word "Down" in the name does not describe the condition itself but rather honors Dr. Down’s work in recognizing the distinct physical and developmental characteristics of individuals with the condition. The term "Down syndrome" was adopted over time to reflect his contributions, but the word "Down" does not imply any negative or limiting aspects of the condition.

Down syndrome & CHD

The genes located on chromosome 21 play a role in early heart development. When there’s an extra copy of chromosome 21, it can interfere with the normal signaling processes that guide the heart’s formation resulting in a higher likelihood of CHD in people with Down syndrome. In fact, about 50% of children born with Down syndrome also have some form of heart defect, with AVSDs and VSDs being the most common. These heart defects can range from mild to severe and may require surgical intervention or long-term monitoring.

ABOUT DOWN SYNDROME

DS FAQ.

  • Down syndrome occurs when there is an extra full or partial copy of chromosome 21. This extra genetic material affects how a baby’s body and brain develop.

  • In most cases, Down syndrome is not inherited. It typically occurs as a random event during the formation of the egg or sperm. However, in rare cases, a form of Down syndrome called translocation Down syndrome can be inherited from a parent who carries a rearranged chromosome 21.

  • People with Down syndrome are more likely to experience certain health conditions, such as:

    - Congenital heart defects
    - Vision problems, like strabismus (crossed eyes) or cataracts
    - Hearing loss
    - Thyroid issues
    - Sleep apnea

  • Intellectual disability in individuals with Down syndrome can vary widely, ranging from mild to moderate to severe. However, many people with Down syndrome are able to attend school, hold jobs, and live independently, especially with the right support and education.

  • Yes, people with Down syndrome are living longer than ever before. The average life expectancy has increased significantly due to medical advancements and improved healthcare, with many people with Down syndrome living into their 60s and beyond.

  • Yes, Down syndrome can often be detected during pregnancy through screening tests (like a blood test and ultrasound) or diagnostic tests (like amniocentesis or chorionic villus sampling), which analyze the chromosomes.

  • Providing early intervention services such as physical therapy, speech therapy, and educational support is critical. Creating an inclusive and supportive environment where people with Down syndrome are treated with respect and dignity is equally important. Additionally, fostering independence while offering guidance is key to helping them achieve their potential.

ABOUT DOWN SYNDROME

How we talk about DS.

Language plays a vital role in shaping perceptions and promoting inclusion. When talking about individuals with Down syndrome, it’s important to use respectful and person-first language. Here are some guidelines:

  • Always put the person before the diagnosis. For example, say “a person with Down syndrome” rather than “a Down syndrome person.” This emphasizes that individuals are people first, with Down syndrome being just one part of who they are

  • Avoid describing the condition as “Downs” or saying “Downs baby” or “He has Downs”

  • Rather than focusing on what people with Down syndrome cannot do, or their intellectual/physical differences, emphasize their abilities and strengths

  • Down syndrome does not need a cure. It is a syndrome - not a disease. People have Down syndrome - they do not suffer from it.

  • Instead of using “normal” when speaking about people without Down syndrome, use “typically developing” or “typical”

  • Always remember that Down syndrome is a condition, not a defining feature. The individual is more than their diagnosis. Focus on their personality, interests, and talents