Embracing Diversity: Celebrating World Down Syndrome Day

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Introduction:

March 21st marks World Down Syndrome Day, a day dedicated to raising awareness and celebrating individuals with Down syndrome. It's a time to recognize the unique abilities, talents and contributions of people with Down syndrome, while also advocating for their rights, inclusion and well-being. In this blog post, we'll explore the significance of World Down Syndrome Day and why it's essential to promote acceptance, understanding and support for individuals with Down syndrome.

Understanding Down Syndrome:

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. The type of error is called nondisjunction. This additional genetic material alters the course of development and results in various physical characteristics, intellectual disabilities and medical conditions. However, it's crucial to recognize that each person with Down syndrome is unique and possesses their own strengths, personalities and abilities.

Here are some common signs and symptoms associated with Down syndrome:

Physical Features:

  • Almond-shaped eyes with upward slanting eyelids
  • Small ears that may be folded over
  • Flattened facial profile
  • Short neck with excess skin at the back
  • Protruding tongue
  • Single deep crease across the center of the palm (Simian crease)
  • Low muscle tone (hypotonia)
  • Short stature

Developmental Delays:

  • Delayed motor skills development, such as crawling, walking and fine motor coordination
  • Delayed speech and language development
  • Cognitive delays, including learning difficulties and intellectual disabilities
  • Delayed social and emotional development

Health Concerns:

  • Congenital heart defects, such as atrioventricular septal defects and ventricular septal defects
  • Increased risk of respiratory infections, including pneumonia
  • Gastrointestinal issues, such as gastroesophageal reflux disease (GERD) and constipation
  • Vision and hearing problems, such as cataracts, strabismus (crossed eyes) and conductive hearing loss
  • Thyroid disorders, such as hypothyroidism
  • Increased susceptibility to certain medical conditions, such as leukemia and Alzheimer's disease

Behavioural Characteristics:

  • Friendly and affectionate demeanor
  • Sociable and outgoing personality
  • Interest in social interactions and forming friendships
  • Persistent curiosity and desire to explore the environment
  • Emotional sensitivity and empathy towards others

Speech and Language Differences:

  • Speech delays and difficulties with articulation
  • Limited vocabulary and difficulty with expressive language
  • Challenges with grammar and syntax
  • Improved receptive language skills compared to expressive language skills

It's important to note that not all individuals with Down syndrome will exhibit all of these signs and symptoms and the severity of these features can vary widely. 


Who Is at The Risk for Down Syndrome?

It occurs in all ethnic and economic groups and only some of the risk factors for Down syndrome are identified, including:

Parents With Chromosomal Disorder:

Parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, have more chances to have a child with Down syndrome.

Demographic Factors:

Demographic factors also affect the risk for a child to be born with Down syndrome, counting geographic region, maternal education, marital status and Hispanic ethnicity.

Age of Women:

The prospect that an egg will contain an extra copy of chromosome 21 rises significantly as a woman ages, so elder women are much more likely to give birth to an infant with Down syndrome than younger women.


How Down Syndrome Can Be Diagnosed?

Mothers can be checked for Down syndrome during pregnancy or after a child is born. Two types of tests for Down syndrome are done during pregnancy.

Prenatal Screening Test:

This test cannot determine whether Down syndrome is definitely present but it can show an increased likelihood that a fetus has Down syndrome. If a screening test indicates an increased probability, a diagnostic test can be done.

There are numerous options for Down syndrome prenatal screening, including:

  • A blood test with an ultrasound during first trimester of pregnancy
  • A blood test during second trimester of pregnancy
  • A combined test encompassing blood test and ultrasound during first and as well as second trimester (Also called as integrated test)

Prenatal Diagnostic Test: 

This test can find out with certainty whether Down syndrome is present. Diagnostic tests pose a somewhat greater risk to the fetus than screening tests.

These procedures are used to extract samples.

  • Amniocentesis:

A sample of amniotic fluid is tested for the extra chromosome during week 14 to 18 of the pregnancy.

  • Chorionic villus sampling (CVS):

A sample of cells from a part of the placenta is tested for the extra chromosome between weeks 9 and 11 of pregnancy.

  • Percutaneous umbilical blood sampling (PUBS):

A sample of fetal blood in the umbilical cord is taken through the uterus and then tested for the extra chromosome. It is the most accurate diagnostic method and can confirm the results of CVS or amniocentesis. Though, PUBS cannot be done until later in the pregnancy, between weeks 18 and 22.


Chromosomal Testing of Maternal Blood:

A mother’s blood carries DNA from the fetus. So, a pregnant woman who is at the risk of having an infant with Down Syndrome can have a chromosomal testing using her blood which may show extra chromosome 21 material. 

 

Promoting Inclusion and Acceptance:

World Down Syndrome Day serves as a reminder of the importance of fostering inclusive communities where individuals with Down syndrome are valued, respected and included. Inclusive education, employment opportunities, healthcare services and social activities play a vital role in promoting the full participation and integration of individuals with Down syndrome into society.


Celebrating Achievements and Contributions:

Despite the challenges associated with Down syndrome, individuals with this condition continue to achieve remarkable accomplishments and make meaningful contributions to their families, communities and society as a whole. From pursuing academic goals and excelling in sports to pursuing creative passions and advocating for disability rights, people with Down syndrome demonstrate resilience, determination and limitless potential.


Raising Awareness and Advocacy:

World Down Syndrome Day also serves as an opportunity to raise awareness about the rights, needs and abilities of individuals with Down syndrome. Through advocacy efforts, education campaigns and community events, we can challenge stereotypes, combat discrimination and promote a more inclusive and equitable world for people with Down syndrome.


Get Involved:

There are many ways to get involved and show your support for World Down Syndrome Day. You can participate in local events, share information and resources on social media, volunteer with organizations that support individuals with Down syndrome, or simply take the time to learn more about the condition and engage in conversations with friends, family members and colleagues.


Conclusion:

Many individuals with Down syndrome lead fulfilling and enriching lives, participating in their communities and achieving personal goals with the support of their families, caregivers and educational and healthcare professionals. Early intervention programs, specialized therapies and inclusive educational opportunities can help individuals with Down syndrome reach their full potential and thrive.

As we commemorate World Down Syndrome Day, let's reaffirm our commitment to promoting diversity, inclusion and acceptance for all. By embracing the unique abilities and talents of individuals with Down syndrome, we can create a more compassionate, equitable and inclusive world where everyone has the opportunity to thrive and fulfill their potential.


References:

World Down Syndrome Day (https://www.worlddownsyndromeday.org/)

National Down Syndrome Society (https://www.ndss.org/)

Down Syndrome International (https://www.ds-int.org/)

Down Syndrome (https://www.nichd.nih.gov)


Join the Conversation:

How are you celebrating World Down Syndrome Day? Share your thoughts, experiences and ideas in the comments below. Let's continue to spread awareness, acceptance and love for individuals with Down syndrome.

Location: Calgary, AB, Canada

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