Nethra Vijayanand
IB Y1 B
26th November 2022
An intro to Down Syndrome:
Down syndrome is a genetic disorder that is present in approximately 3,000 to 5,000 babies born every single year. It is mainly caused by differences in the number of chromosomes and can result in mild to serious physical and developmental problems for the people affected i.e. heart defects and difficulty with expressive communication. Thus, a better understanding of down syndrome is extremely important as increased awareness and early interventions can make Down syndrome patients’ lives much more fulfilling.
How it's caused:
Genes determine how you form and develop whilst growing in the womb and after birth. A chromosome is a structure that contains genes. So, most babies are born with 23 pairs of chromosomes within each cell for a total of 46. However, due to a random error in cell division, the majority of babies with Down syndrome are born with an extra copy of chromosome 21. Leaving three copies of that chromosome instead of the usual two.
Types of Down Syndrome:
An important fact to note is that there are three types of Down syndrome: trisomy 21, mosaicism and translocation. Trisomy 21 means that there’s an extra copy of chromosome 21 in every cell. Whereas, mosaicism occurs when a baby is born with an extra chromosome in some but not all of their cells. Lastly, in translocation, babies are born with only an extra part of chromosome 21.
Their physical features:
People with Down Syndrome have rather distinct physical features. Eyes that slant upwards, a flattened face with visible folds between the eyes and nose, and a tongue that protrudes out of the mouth. They are usually short in height and have short fingers. Furthermore, they also have muscle hypotonia, therefore, their limbs aren’t as rigid and controlled as the average person, etc. Scientists are still trying to find out which genes are directly correlated with these distinct features common to Down Syndrome patients.
Additional health problems:
Children with Down syndrome are much more likely to face medical complications such as leukemia, cataracts, and hearing loss. In addition, approximately 40–80% of people with Down syndrome develop Alzheimer's disease by the age of 50 or 60. They all face significant developmental delays. This means that they have difficulties with mainly speech clarity, number skills, paying attention, etc.
Their strengths:
Nevertheless, they have their own relative strengths which are unfortunately overlooked most of the time. They tend to grasp things much more swiftly when they learn with pictures. Additionally, even though, babies and children can't always express themselves in words, they usually enjoy socializing and utilize non-verbal skills like gestures and babbling to help them at times. Last but not the least, they really surpass the expectations that others have regarding their reading skills. A good amount of them are able to develop very good reading skills now.
Treatments:
Can Down syndrome be treated and cured? The answer is no because Down syndrome isn't a disease that can be cured by taking medicine etc. Instead, early intervention is key to aiding them to reach their maximum potential. So, if detected early, it means that they start physical therapy, speech therapy and occupational therapy much earlier. Which will help them to be more self-sufficient earlier on. Plus, assistive devices like keyboards with large letters, three-sided pencils, bands that help with movement, etc. are of great help to them as well.
Medicines and surgery are commonly used to treat them for the medical complications they are prone to like heart defects. However, recently, specific psychoactive drugs have been developed which affect brain activity. Which gives hope that there’ll be medicine for those struggling with the mental symptoms of Down syndrome.
Citations:
“Down Syndrome - Symptoms and Causes.” Mayo Clinic, 8 Mar. 2018, www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977.
“Down Syndrome: Symptoms, Causes, Treatments.” Cleveland Clinic, my.clevelandclinic.org/health/diseases/17818-down-syndrome.
“What Conditions or Disorders Are Commonly Associated With Down Syndrome?” https://www.nichd.nih.gov/, 31 Jan. 2017, www.nichd.nih.gov/health/topics/down/conditioninfo/associated.
Salehi, Ahmad, et al. “The Link Between Alzheimer’s Disease and Down Syndrome. A Historical Perspective.” PubMed Central (PMC), www.ncbi.nlm.nih.gov/pmc/articles/PMC6368451.
“Development and Learning for People With Down Syndrome.” Development and Learning for People With Down Syndrome, www.down-syndrome.org/en-gb/about-down-syndrome/development/
“What Are Common Treatments for Down Syndrome?” https://www.nichd.nih.gov/, 31 Jan. 2017, www.nichd.nih.gov/health/topics/down/conditioninfo/treatments.
“Musculoskeletal Effects of Down Syndrome.” Physiopedia, www.physio-pedia.com/Musculoskeletal_Effects_Of_Down_Syndrome.
"World Down Syndrome Day." United Nations,
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