Down syndrome (trisomy 21) is the most common genetic disorder. It occurs due to the presence of an additional or partial third copy of chromosome 21, rather than the usual two copies. Around 3,000 to 5,000 births of children are born with this chromosomal disorder annually.
World Down Syndrome Day is observed every year on March 21st, recognized by the United Nations. The selection of the day and month corresponds to the numbers 21 and trisomy, respectively.
Understanding the causes and manifestations of this condition is crucial in comprehending its impact on individuals, their families, and communities worldwide. The exact cause for the extra chromosome is still unknown. Most of the time, it's not inherited from parents but occurs by chance during the conception or embryo stage. Advanced parental age is the top risk factor associated with an increased chance of having a baby with Down Syndrome.
Everyone with Down syndrome is different. The most common physical traits are small chin, a flat nose, a protruding tongue, slanted eyes, tiny white spots in the iris (Brushfield spots), weak muscles, short hands with a single crease on the palm, short fingers and toes, extra space between the big toe and second toe, flexible joints, and short stature.
They are more prone to various health issues, including weak immune system, congenital heart defects, epilepsy, leukemia, thyroid diseases, periodontal diseases, hearing and vision disorders. They have mild to severe intellectual disabilities and delayed developmental milestones.
Individuals with Down syndrome need regular check-ups and interventions like therapy, counseling, and special education. Parental care, medical guidance, and inclusive community-based systems, empower them to realize their full potential and participate meaningfully in society.
The theme for World Down Syndrome Day this year is 'End the Stereotypes'.
Stereotypes surrounding individuals with Down syndrome, including underestimating their capabilities, assuming a lack of normalcy, homogenizing their experiences, perpetuate misconceptions and limit opportunities. This prejudice leads to discrimination, making it difficult for them to access education, employment opportunities, and social activities. In some cases, they may even experience abuse.
To commemorate World Down Syndrome Day, the MedBound app, a renowned online platform for healthcare professionals, hosted a discussion.
It garnered many responses from a diverse range of professionals. Here are a few contributions:
Sushmita Bhandary, one of the content writer interns at MedBound Times, emphasized that individuals with Down syndrome are capable of living a normal life and deserve our support in society.
MedBound's social media marketing intern, Aniket Bakare observed that individuals with Down syndrome can lead long and fulfilling lives despite their condition.
Komal Bhoi, another content writer intern at MedBound, highlighted the active participation of people with Down Syndrome in educational, social activities, sports, and community events.
Bringing attention to a different aspect of the discussion, Lavanya Beeraboina, a fellow content writer intern, highlighted the availability of prenatal screening tests for diagnosing Down syndrome.
Dr. Munish Kumar, MD, the founder and CEO of MedBound & MedBound Times, and an attending Neonatologist, further elaborated on the significance of the Quad screen in detecting Down syndrome. He stressed the importance of not declining this test when recommended by doctors.
As we observe World Down Syndrome Day, let us recommit ourselves to ending the stereotypes in the following ways.
Learn about Down syndrome from reliable sources to understand the condition better.
Spread accurate information and speak against stereotypes whenever we encounter them.
Participate in initiatives that advocate for the rights and inclusion of individuals with Down syndrome.
Encourage environments where they can fully participate in educational, social, and recreational activities without discrimination.
Treat them with respect and dignity, valuing their unique abilities and contributions.
Each person is unique, with individual identities, interests, and talents. While Down syndrome may be part of one's identity, it does not define them entirely. Ending stereotypes is essential to fostering inclusivity and promoting a society where everyone is treated equally.
References:
1. https://www.worlddownsyndromeday.org/
2. https://www.un.org/en/observances/down-syndrome-day
3. https://www.ds-int.org/
(Original/Dr. Nirainila Joseph/MSM)