Down Syndrome is a naturally-occurring chromosomal arrangement condition that causes some people to have an extra set of chromosome 21. The medical term for having an extra set of chromosomes is trisomy, a reason why Down Syndrome is known as Trisomy 21. Although it’s known and researched that an extrachromosomal set causes Down Syndrome, researchers still do not know how different factors play into the diagnosis and why it occurs.
Down Syndrome is named after Dr. John Langdon Down, who wrote a paper in the 1860s describing the condition. However, it was until 1975 that the term was standardized.
People with Down Syndrome have an increased risk of developing some medical conditions like gastroesophageal reflux (when acidic contents backflow into the esophagus), gluten intolerance, Alzheimer’s disease, and an underactive thyroid. People with Down Syndrome also have a higher risk of developing vision and hearing problems.
Types of Down Syndrome
There are three types of Down Syndrome, and it’s impossible to tell the difference as it occurs in the chromosomal arrangements rather than physical attributes.
1. Trisomy 21: 95% of people with Down Syndrome have Trisomy 21. In this condition, people have an extra set of chromosome 21 (or three sets of chromosome 21 instead of the usual two).
2. Translocation Down Syndrome: Only 3% of people with Down Syndrome have Translocation Down Syndrome. In this condition, the extra set of chromosome 21 gets “trans-located” to a different chromosome rather than existing as a separate chromosome.
3. Mosaic Down Syndrome: This affects 2% of people with Down Syndrome. Children born with this condition may have three sets of chromosome 21 in some cells, different than the usual two sets in others. Therefore, it’s called a mosaic.
Down Syndrome is detected during pregnancy through diagnostic tests and screening tests. Screening tests are safer for the mother and the developing baby as they can tell if the pregnancy has a higher or lower risk of the child being born with Down Syndrome. On the other hand, diagnostic tests detect whether the child will have Down Syndrome, but they’re riskier for the developing child and the mother. However, both of these tests cannot detect the complete impact of Down Syndrome.
The risk of Down Syndrome in a child increases with age, which means mothers over the age of 35 are more likely to have a child with Down Syndrome than mothers younger than 35. However, since most women become pregnant when they are younger than 35, most babies with Down Syndrome are born to older mothers.
Understanding the Importance of Down Syndrome Awareness Month
October was Down Syndrome Awareness Month. It aims to spread awareness about this common but widely misunderstood human condition. Although almost 800 children are born with Down Syndrome every year, many people are unaware of the condition.
As such, Down Syndrome Awareness Month is about helping people understand what Down Syndrome is and how people with this syndrome experience the world and life.
The month advocates for the inclusion and acceptance of people with Down Syndrome.
It’s about learning about the medical condition, recognizing those who live with it, and celebrating the medical advancements that improve the quality of life for those with Down Syndrome.
Historically, people with Down Syndrome have suffered discrimination.
Some were even institutionalized without medical help. Also, they didn’t receive the appropriate medical attention for complications like vision defects, intestinal problems, or heart disorders.
The life expectancy of someone with Down Syndrome was only 25 till the 1980s, but now it has increased to 60. Until the 1960s and 70s, no programs for children with special needs existed. They came in much later due to grassroots efforts by parents in Chicago who fought for education, recognition, and intervention services.
Laws like the Americans with Disabilities Act of 1990 prevent discrimination against individuals with disabilities in different aspects of life, such as schools, jobs, and public and private places. The Disabilities Education Act (IDEA) mandates the state to provide free public education to all children with disabilities to meet their special needs. Many not-for-profit initiatives have been doing excellent work in improving the quality of life for children with Down Syndrome.
It’s common for children with Down Syndrome to have some learning and developmental delays and health issues, but they grow to be happy, independent adults with fulfilling lives. The most important effort to ensure this is how soon they receive medical attention and how effective it is. Intervention therapy (physical, speech, and occupational) plays an important role.
At Amplify, we aim to support and create opportunities for people with disabilities. An essential component of our work is training and maximizing the possibilities for people with Down Syndrome. By providing secure employment for people with developmental disabilities, our goal is to enhance their quality of life and provide independence.
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