Research About Down Syndrome
Keep Calm and Carry on, it’s just an Extra Chromosome.”
Learning about people with Down Syndrome
Down syndrome is a genetic disorder. Most babies are born with 23 pairs of chromosomes within each cell for a total of 46. A chromosome is a structure that contains genes, which are made up of your DNA. The majority of babies with Down syndrome are born with an extra copy of chromosome 21. It affects the development of the brain and body. They typically have distinctive body and facial features that set them apart. They are more likely to develop slowly and are more at risk for some medical conditions.
A common belief years ago about people with Down syndrome is that they won’t live long. People with Down syndrome were not expected to have a career or get married. In the 1940s, a child with Down syndrome had a life expectancy of 12 years. That was all in the past. Year after year, it changed. Now, according to research, their life expectancy is 60 years, and a baby born now with Down syndrome could live into their 80s. Some people think that people with Down syndrome are consistently happy and loving. But like most people, they experience a full range of emotions.
Contrary to what some believe, people with Down syndrome can feel angry, sad, embarrassed or excited. As a matter of fact, rather than always being happy, people with Down syndrome are prone to mental conditions such as depression, obsessive-compulsive behavior and anxiety. People with Down syndrome are at risk of developing health problems. Down syndrome can affect a person’s immune system, so they are more susceptible to infection and common illnesses, particularly in early childhood. Less than half of babies born with Down syndrome have a congenital heart defect.
Researchers are unsure why Down syndrome occurs in certain people. What is known is that the risk of giving birth to a child with Down syndrome increases as women grow older. Women aged 35 and older are more likely to have their pregnancy affected by the syndrome. But because younger women have higher fertility rates, many babies with Down syndrome are born to women under 35. Anyone of any race or societal level can be affected. There are three types of Down syndrome. They are:
- Trisomy 21: The term “trisomy” means having an extra copy of a chromosome. The most common type of Down syndrome, trisomy 21, occurs when a developing baby has three copies of chromosome 21 in every cell instead of the typical two copies. This type makes up 95% of the cases.
- Translocation: In this type of Down syndrome, there is an extra full or partial amount of chromosome 21 attached to another chromosome. Translocation accounts for 4% of the cases.
- Mosaicism: In the rarest type (only 1%) of Down syndrome, some cells contain the usual 46 chromosomes, and some contain 47. The extra chromosome in these cases is chromosome 21.
What are the signs and symptoms of Down syndrome?
Physical signs of Down syndrome can include:
- Short, stocky physical size, with a short neck.
- Poor muscle tone.
- Flattened facial features, especially the bridge of the nose.
- Small ears.
- Almond-shaped eyes that slant upward.
- Small hands and feet.
- Single deep crease across the center of the palm of the hand.
Down syndrome causes physical, cognitive (thinking) and behavioral symptoms.
Common learning and behavioral symptoms of Down syndrome include:
- Delays in speech and language development.
- Attention problems.
- Sleep difficulties.
- Stubbornness and tantrums.
- Delays in cognition.
- Delayed toilet training.
Not all people with Down syndrome have all these symptoms. Symptoms and their severity are different from person to person. There is no cure for Down syndrome, but there are therapies, treatments and educational support available to improve the quality of life of those affected. The treatment will depend on the individual, considering the person’s age, overall health and personal strengths and limitations. Parents can foster the appropriate physical and behavioral skills so that they become a habit. Early intervention produces the best results.
These are the list of some therapies beneficial to the growth of children with Down syndrome:
Speech-Language Therapy – Speech and language therapy provides treatment, support and care for children who have difficulties with communication, or with eating, drinking and swallowing. The overall goal is to improve the child’s ability to communicate.
Physical Therapy – Early physical therapy is important for children with Down syndrome. Due to the low muscle tone, decreased strength, poor coordination and balance, difficulty with feeding and coordination of hand use that is often associated with Down syndrome, early physical therapy can be very beneficial. A physical therapy regimen will likely include strengthening and toning muscles, improving overall coordination and balance and correcting posture.
Occupational Therapy – Occupational therapy is designed to improve the day-to-day skills necessary for living a healthy life and successfully navigating society. It works on improving fine motor skills and the performance of daily tasks like getting dressed, brushing one’s teeth and eating. As the child gets older, the focus will shift to skills like writing and using a computer.
Special Education – Children with Down syndrome qualify for special education under the U.S. Individuals with Disabilities Education Act (IDEA). This means that educational services and accommodations should be made available to these children until they either finish high school or reach the age of 21.
Down syndrome is not what they are. It is what they have. It will not define them any more than others are defined by their religion, their race, their culture or their sexual preference. Interacting with people with Down syndrome helps us to have a full understanding of their developmental disabilities. We are challenged to step out of our comfort zone and view a new perspective. We increase diversity in our society and through diversity we gain wisdom.
People with disabilities are often thought of as having less value and are sometimes feared. We need to think about how we often we remark about other people just because we think they are somehow different from us. If we continue this way of thinking, people with disabilities will be stigmatized and marginalized. We should appreciate and embrace the true diversity of our society. We should help people realize that different is also beautiful.