Down syndrome is an intellectual disability where the individual has an extra chromosome. This extra material has tremendous impacts on the behavioral and physical characteristics of the person.
According to the Cleveland Clinic, this medical condition is the most prevalent chromosomal condition in the United States of America and the world at large. Every year, one out of 700 babies is born with Down syndrome.
Following the study conducted by Adeyokunnu (1982) in Ibadan, Nigeria, there is a high prevalence of Down syndrome. The results of that study showed 1 in 863 babies being born with the condition during that period.
Like other disabilities, Down Syndrome is not a death sentence. People living with this condition can still lead fulfilling lives under the right conditions. As we progress, we will examine the fundamental aspects of this condition, the challenges it might pose, and the way forward.
Genetically, What is Down Syndrome?
Down syndrome occurs when there is an extra (partial or whole) copy of chromosome 21. Most people have 23 pairs of chromosomes, making it 46 individual chromosomes. But, a person living with Downs has 47. This additional chromosome affects the individual’s looks and intellectual and behavioral capacity.
While most characteristic features of Down Syndrome vary between individuals, some are generic and serve for the initial diagnosis of the disease. For example, most people with Down Syndrome have a shorter stature and poor musculature. Other characteristics include:
- A flattened face and nose bridge
- Almond-shaped eyes slanted upwards
- A small head and ears
- A protruding tongue.
- Small hands with single palm crease.
Aside from the physical attributes, these individuals typically experience significant cognitive delays. These delays make them develop and mature slower than their peers. These individuals struggle with gross and fine motor skills like walking, speaking, and other basic language and social skills.
What Are the Causes and Risk Factors?
Down Syndrome can result from any of the three types of chromosomal abnormalities. The most common, affecting about 95% of cases, is Trisomy 21. In this case, every cell in the body has an extra copy of chromosome 21.
The direct opposite is the Mosaic Down Syndrome, which is the rarest case, accounting for less than 1% of individuals with Down’s. In this case, some cells have the regular 46 chromosomes, while some have the extra chromosome 21, making 47.
The third type of Down Syndrome, affecting about 4% of the population, is the Translocation Down Syndrome. Here, the extra chromosome partially or fully attaches to another chromosome.
Determining the different types of Down Syndrome by physical features is impossible. However, due to the reduced number of affected cells in the Mosaic Down Syndrome, these individuals exhibit fewer physical features than those with Trisomy 21 and Translocation.
The only way to confirm the condition is by conducting a karyotype test. This blood test examines the chromosomes to determine the presence of an extra chromosome 21. During pregnancy, the doctor can carry out a prenatal screening and other tests like amniocentesis to ascertain the likelihood of the condition. Whether the results are positive or negative, no one can determine the severity of the condition before the child is born.
Currently, research is ongoing to determine the risk factors of this condition. The primary risk factor is that women over 35 are more likely to have children with Down Syndrome or other conditions. The hypothesis is that older eggs are more susceptible to improper chromosomal division.
However, due to a higher fertility rate, most babies with Down Syndrome belong to younger mothers, proving that Down Syndrome can occur in mothers of any age.
Living With Down Syndrome
It is a common misconception that individuals with Down Syndrome are limited in their abilities. But, in reality, they can attend school, work, engage in social activities, and lead fulfilling, semi-independent lives only if they receive early intervention and proper support.
Despite these potentials and possibilities, the truth remains that these individuals face several behavioral and health challenges. Because they have limited expressive abilities, they are prone to exhibit stubbornness, obsessive or compulsive actions, and tantrums.
Health-wise, they are more susceptible to infections and more likely to develop heart defects, gastrointestinal malformations, and dental and auditory problems.
Going Forward: Managing the Syndrome
Down Syndrome has no cure. But, there are various therapies and strategies to help improve the quality of life of individuals living with Down’s.
Continuous research and studies show promise in advancing healthcare, education, and social acceptance for these individuals.
With regular checkups, early interventions, therapies, and specialized educational support, individuals with Down Syndrome and their families can manage the condition effectively.
More individuals can join initiatives like World Down Syndrome Day to raise awareness, encourage inclusivity, and recognize the contributions of people with Down Syndrome.
References
- Cleveland Clinic. (2023, January 31). Down syndrome. Retrieved from https://my.clevelandclinic.org/health/diseases/17818-down-syndrome.
- Centers for Disease Control and Prevention. (2023, June 28). Down syndrome. Retrieved from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html.
- WebMD Editorial Contributors. (2022, September 19). Understanding down syndrome basics. Reviewed by Amita Shroff, MD. Retrieved from https://www.webmd.com/children/understanding-down-syndrome-basics.
- National Down Syndrome Society. (n.d.). About. Retrieved from https://ndss.org/about.
- Adeyokunnu, A. A. (1982). The incidence of Down’s syndrome in Nigeria. Journal of Medical Genetics, 19(4), 277–279. Retrieved from http://jmg.bmj.com/.
