World Down Syndrome Day (WDSD) is an internationally recognized day of awareness that takes place on March 21 each year. The United Nations has designated this day as an official observance since the year 2012. The purpose of WDSD is to raise awareness and promote understanding of Down syndrome on a global scale. The date March 21 symbolizes the chromosomal abnormality of chromosome 21.
This blog highlights and creates awareness about the causes and symptoms of Down syndrome
What is Down Syndrome?
Down syndrome is a genetic condition that arises due to an irregular division of cells, leading to the presence of an extra full or partial copy of chromosome 21. This additional genetic material causes distinct physical traits and developmental differences that are associated with Down syndrome. The severity of Down Syndrome differs from patient to patient.
What are the symptoms of Down Syndrome?
Down syndrome can result in a variety of physical, cognitive, and behavioral symptoms. However, not all individuals with Down syndrome will have all of these symptoms, and the severity of these symptoms can vary greatly from one person to another. Therefore, the presentation and level of these symptoms are unique to each person with Down syndrome.
The various physical symptoms of Down Syndrome include the following,
- Having a flattened face, especially a flattened nose
- Small ears, hands, and feet
- Short height
- A small head
- Small white spots on the iris (the colored part of the eye) called Brushfield’s spot
- Small and short fingers
- Short neck
- Weak or poor muscle tone
- A tongue that protrudes outwards
- Pinky fingers that are smaller in size and may occasionally bend towards the thumb.
Causes of Down Syndrome
Down syndrome is caused by the presence of an additional chromosome, specifically an extra copy of chromosome 21. Normally, human cells have a total of 46 chromosomes, which are arranged in 23 pairs. However, in Down syndrome, there are changes in the division process of cells in chromosome 21 that lead to the presence of an extra copy of this chromosome in some or all of an individual’s cells.
There are three distinct types of Down syndrome, each with a different underlying cause. These include
- Trisomy 21: This is the most frequently occurring type of Down syndrome is Trisomy 21. Trisomy refers to the presence of an extra copy of a particular chromosome. In the case of Trisomy 21, the developing fetus has three copies of chromosome 21 in every cell, rather than the normal two copies.
- Translocation Down syndrome: This is a type of Down syndrome that occurs when a segment of chromosome 21, either partial or full, becomes attached to another chromosome. In contrast to Trisomy 21, which involves an extra copy of chromosome 21, Translocation Down syndrome is characterized by the relocation of chromosome 21 to a different numbered chromosome rather than being present as a separate chromosome.
- Mosaicism Down syndrome: This is the least common type of Down syndrome. In Mosaic Down syndrome, some cells in the body have the typical 46 chromosomes, while others have an extra chromosome, specifically chromosome 21, resulting in a total of 47 chromosomes. This pattern of cells containing different numbers of chromosomes is referred to as mosaicism.
How to treat Down Syndrome?
Although there is no particular cure for Down syndrome, numerous physical and developmental therapies are available that can aid individuals with the condition in achieving their maximum potential. It is recommended to begin these therapies as early as possible. Every child’s requirements vary, so the treatment plan should be tailored accordingly. Some of the treatments for Down Syndrome include the following,
- Physical therapy
- Occupational therapy
- Speech therapy
- Vision and hearing aids
- Special education programs
- Treatment for underlying medical conditions
Complications of Down Syndrome
Children born with Down syndrome are at a high risk of developing some health problems in the future. Some of these health problems include the following,
- Hearing issues
- Vision problems such as cataracts
- Celiac disease
- Childhood leukemia
- Pulmonary hypertension
This World Down Syndrome Day 2023, it is crucial to create awareness about the condition and encourage supportive care for children with Down syndrome. Children with Down syndrome can lead healthy and fulfilling lives with early intervention and proper treatment. Therapy and treatments can help with the developmental delays, learning difficulties, and other associated health issues often come with Down syndrome.
It’s important to provide inclusive education and opportunities for children with Down syndrome. It is also essential to promote awareness and acceptance in society, including workplaces and communities, to ensure that individuals with Down syndrome are treated with dignity and respect. Overall, this World Down Syndrome Day 2023, let’s all do our part to raise awareness and support children with Down syndrome to lead fulfilling lives.
At Ayu Health, we provide specialized medical care for individuals with Down Syndrome. Our medical professionals work closely with patients and their families to develop personalized treatment plans that address their needs. We offer a range of medical services for individuals with Down Syndrome. Our medical professionals are highly trained and experienced in working with individuals with Down Syndrome, and we provide compassionate care that is tailored to meet the unique needs of each patient.
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About the Author
Dr. S. Goel
Dr. S. Goel is a renowned Internal Medicine Specialist currently practicing at Ayu Health, Bangalore. He is a Specialist in Internal Medicine, Diabetes HTN, Paediatric Care, and Family Medicine.