Imagine a world where differences are celebrated: Down syndrome, a genetic condition caused by an extra chromosome, offers a powerful reminder of the beauty in diversity and the potential within every individual.
Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. Normally, humans have 46 chromosomes, arranged in 23 pairs. In Down syndrome, there are three copies of chromosome 21 instead of the usual two. This additional genetic material disrupts normal development, leading to characteristic physical features and a range of cognitive and health challenges.
What are the risk factors?
One main factor is the age the women get pregnant. The risk of having a baby with Down syndrome increases with age, especially if you are 35 years or older when you get pregnant. parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome.
What are the symptoms?
Some symptoms that we can use to identify a person with down syndrome are as follows. Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. A flat nose bridge, slanted eyes that point upwards, small ears, hand and feet, small pinky finger that points inward towards the thumb, shorter than average height.
How to Diagnose?
Prenatal Diagnosis is the early detection of Down syndrome which can be achieved through prenatal screening and diagnostic tests. Postnatal Diagnosis is done after birth. Here it is usually diagnosed through a physical examination and chromosomal analysis (karyotyping) of a blood sample.
Education and support
Education plays a vital role in the development of individuals with Down syndrome. Inclusive educational practices and tailored learning approaches can enhance their cognitive and social skills. Early intervention services, including speech therapy, occupational therapy, and physical therapy, can significantly improve developmental outcomes.
What are the health considerations?
Individuals with Down syndrome may face an increased risk of various health issues which include congenital heart defects, hearing and vision problems, thyroid disorders, gastrointestinal issues. Regular medical check-ups and early intervention programs are crucial for addressing these health challenges.
What can we do to help them?
Praising them when they learn something new, speaking clearly and calmly so they can learn from you, play and sing songs, read books with them to help their sounds and words. Further try showing them what do to instead of instructing them, look out for changes in mood or behavior and taking them regularly for health checkups.
In conclusion, fostering awareness and understanding of Down syndrome is crucial for creating a more inclusive society. By supporting individuals with Down syndrome and their families, we can break down stereotypes and promote acceptance. Community initiatives, education, and advocacy play essential roles in empowering those affected and celebrating their unique contributions. Together, we can build a supportive environment that values diversity and enhances the quality of life for everyone, ensuring that individuals with Down syndrome have the opportunities and support they deserve to thrive.
Penned by : Rtr. Sandithi Dias
Rotaract Club of Faculty of Law University of Colombo 