What is Down Syndrome?
Down syndrome is a genetic disorder that is usually caused by the addition of an extra 21st chromosome during fetal and genetic development. Humans are usually born with 23 pairs of chromosomes - one from the mom and one from the dad. Most of the time, Down syndrome occurs when the 21'st "pair" of chromosomes has 3 chromosomes, instead of 2 from each parent.
The most identifiable symptom of Down syndrome is the presence of a variety of "irregular" physical developments. These include, but are not limited to...
Flattened facial features
A fairly short neck
Small ears
Small hands and feet
A shorter stature in comparison to the norm
The individual's tongue tends to stick out.
Along with physical differences, individuals with the disorder adorn differences in mental development as well. These may include,
Lower IQ range
Difficulty with social environments
Mood-related issues
Impulsiveness
Regression in cognitive skills
It is important to keep in mind that every case of Down syndrome is different, and may not exhibit the same symptoms and results as other cases.
Types of Down Syndrome
Trisomy 21:
This is the most common type of down syndrome, with about 95% of affected patients adorning this type. Trisomy 21 occurs when there is an extra 21st chromosome in every cell of the individual's cells, that accounts for the differences in physical and mental development
Translocation Down Syndrome:
This type accounts for about 3% of affected cases. For this type, an extra 21st chromosome is still present, but it is attached to another pair of chromosomes instead of the 21 chromosomes.
Mosaic Down Syndrome:
This final type is present in about 2% of affected individuals and occurs when only some of the person's cells have an extra 21st chromosome. Essentially, not all their cells are affected which means they may still show the symptoms, (physical and mental) but it would be to a lower degree.
Treatment:
Unfortunately, there is no actual cure for down syndrome. There are various treatments and therapies that can, however, alleviate the patient's symptoms.
A common treatment for the disorder is speech therapy, where professionals essentially aid in improving the patient's speech patterns, which may be seen as "irregular" in everyday society. Additionally, other treatments can include physical therapy to help build motor skills, occupational therapy to modify the patient's lifestyle to better suit them, and emotional/behavioural therapy to help improve communication and expression techniques.
The true worst-case scenario is to consider fatality. Unfortunately, 25-30% of patients with Down syndrome die within the first year of their life. It is a sad reality that is difficult to accept, but we hope that future medical advances can develop more effective treatments and a possible cure.
References
CDC. (2019, December 4). Facts about Down Syndrome. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html#:~:text=is%20Down%20Syndrome%3F- Mundakel, G. T. (2020, June 18). What is the prognosis of Down syndrome? Medscape. https://www.medscape.com/answers/943216-181109/what-is-the-prognosis-of-down-syndrome#:~:text=Approximately%2025%2D30%25%20of%20patients NIH. (2017, January 31). What are common treatments for Down syndrome? National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/treatments
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