Down Syndrome Research by Sumon Ghosh (Founder of ACNRC)

Down Syndrome Research by Sumon Ghosh (Founder of (ACNRC) Down syndrome or Down’s syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. (ACNRC) Down syndrome is a genetic condition where a person is born with an extra chromosome. This can affect how their brain and body develop. People diagnosed with Down syndrome can lead healthy lives with supportive care. Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. A note from Aradhya Clinic & Neuro Reseatch Center (ACNRC) Physical signs of Down syndrome

• A flat nose bridge.
• Slanted eyes that point upward.
• A short neck.
• Small ears, hands and feet.
• Weak muscle tone at birth.
• Small pinky finger that points inward towards the thumb.
• One crease in the palm of their hand (palmar crease).
• Shorter-than-average height.

What is Down syndrome caused by? Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This can affect how their brain and body develop. People diagnosed with Down syndrome have happy and healthy lives with supportive care. What are the risk factors for Down syndrome? Research is ongoing to learn more about the risk factors of Down syndrome. Studies suggest that the risk of giving birth to a child with Down syndrome increases as the birthing parent ages. Women or people assigned female at birth (AFAB) who are 35 or older are more likely to have a child diagnosed with Down syndrome or another type of genetic condition. Since people AFAB younger than 35 have higher fertility rates, most babies with Down syndrome are born to people under 35. Cognitive symptoms of Down syndrome Your child with Down syndrome may have cognitive development challenges as a result of their extra chromosome. This can cause intellectual or developmental disabilities. Your child’s ability to meet developmental milestones, or things that your child can do at a certain age, may differ from other children, including how they:

• Walk and move (gross and fine motor skills).
• Speak (language development skills).
• Learn (cognitive skills).
• Play (social and emotional skills).

As a result, it may take your child longer to do the following things:

• Toilet training.
• Speaking their first words.
• Taking their first steps.
• Eating food independently.

Behavioral symptoms of Down syndrome Your child diagnosed with Down syndrome may exhibit behavioral symptoms. This can be the result of your child not being able to communicate their needs to you or their caregivers effectively. Behavioral symptoms of Down syndrome could include:

• Stubbornness and tantrums.
• Difficulty paying attention.
• Obsessive or compulsive behaviors.

  What causes Down syndrome? An extra chromosome causes Down syndrome. Each human cell typically contains 23 pairs of chromosomes, which totals 46. Down syndrome occurs because of changes in the way cells in chromosome 21 divide. Every person with Down syndrome has an extra chromosome 21 in some or all of their cells. There are three types of Down syndrome with different causes, including:

• Trisomy 21.
• Translocation.
• Mosaicism.

Diagnosis and test: Prenatal screening tests These tests assess your risk of having a child with Down syndrome rather than giving you a confirmation of a diagnosis. Screening tests could be a blood test of the birthing parent’s blood to look for indicators of Down syndrome. Another screening test is an ultrasound. During this imaging test, your provider will look for signs of Down syndrome, like extra fluid behind your baby’s neck. It’s possible that a screening test could be normal and not show signs of Down syndrome when the condition is present. Diagnostic tests during pregnancy Diagnostic tests during pregnancy can confirm a Down syndrome diagnosis. They usually take place after a positive screening test. Diagnostic testing offers more risk for the birthing parent and the developing fetus. Management and Treatment How is Down syndrome treated? There’s no cure for Down syndrome, but treatment is available to help your child reach their full potential. Treatment focuses on helping your child thrive physically and mentally. Treatment options could include:

• Physical or occupational therapy.
• Speech therapy.
• Participating in special education programs in school.

This Information collect from Aradhya Clinic & Neuro Reseatch Center (ACNRC): People diagnosed with Down syndrome may have children of their own. An estimated 50% of women or people assigned female at birth (AFAB) can have children. It’s normal for men or people assigned male at birth (AMAB) to have a low fertility rate if they have Down syndrome. If a birthing parent has Down syndrome, the risk of passing the genetic condition onto their future children is 35% to 50%. It may feel overwhelming to learn that your child has Down syndrome. As you process the news, know that you’re not alone and that your child’s extra chromosome is part of what makes them unique. You can find support through your child’s medical care team or by joining groups for families and caregivers to learn more about the condition and how to help your child grow.