We begin our awareness campaign with Down Syndrome (Trisomy 21)—one of the most recognized genetic conditions worldwide.
At our center, under the leadership of Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of the few qualified medical geneticists in India, we have helped dozens of families navigate the challenges and opportunities of genetic conditions, including Down Syndrome.
Understanding Down Syndrome – A Genetic Perspective
Every human typically has 46 chromosomes (23 pairs) in their cells. Down Syndrome occurs when there is an extra copy of chromosome 21, leading to 47 chromosomes instead of 46. This additional genetic material affects growth, cognitive abilities, and health, resulting in:
✔ Distinctive facial features
✔ Intellectual disability (mild to moderate)
✔ Delayed milestones
✔ Increased risk of certain medical conditions
Although there is no permanent cure for Down Syndrome, symptomatic treatments help manage symptoms, prevent complications, and improve overall quality of life. Some common medical interventions include:
✔ Thyroid concerns – Managed with thyroxine supplements
✔ Heart conditions – Treatable with medications or minor surgery
✔ Eye problems, spinal issues, and other complications – Easily manageable with proper medical care
✔ Wheat allergy (Celiac disease) – Common in individuals with Down Syndrome; regular screening and dietary modifications help prevent complications
However, with early intervention, proper medical care, and supportive therapies, individuals with Down Syndrome can lead happy, fulfilling, and even independent lives.
Our Experience with Down Syndrome at Our Center
Many families reach out to us when they notice:
🔹 Delayed developmental milestones (late walking or talking)
🔹 Unique facial features
🔹 Heart defects or other congenital conditions (sometimes the first sign)
Through genetic testing, we confirm the diagnosis and help families understand:
✅ What to expect
✅ How to manage health risks
✅ What interventions can help their child thrive
We work closely with parents to provide:
✅ Genetic counselling to discuss recurrence risks in future pregnancies
✅ Long-term care strategies for improved health and quality of life
✅ Guidance on therapies such as speech and occupational therapy
With proper medical follow-up and support, children and adults with Down Syndrome can achieve significant milestones, gain education, hold jobs, and lead meaningful, joyful lives.
Common Medical Concerns That We See in Down Syndrome
Individuals with Down Syndrome may have an increased risk of:
🔹 Heart defects
🔹 Hypothyroidism (low thyroid function)
🔹 Hearing and vision problems
🔹 Blood cancers like leukemia
🔹 Cervical spine instability
🔹 Wheat allergy (Celiac disease) – Requires regular screening
Regular medical check-ups, early interventions, and lifestyle support can significantly reduce these risks.
Frequently Asked Questions (FAQs) on Down Syndrome
💡 What causes Down Syndrome?
Down Syndrome is caused by an extra chromosome 21. Instead of two copies, individuals have three copies, which alters gene function and development. This “extra dose” of genetic material leads to the clinical features of the condition.
💡 Why did this happen?
Down Syndrome usually occurs due to a process called non-disjunction—a random event where chromosomes do not separate properly during cell division. No one is to blame for this; it can happen in any pregnancy.
💡 Is Down Syndrome inherited?
Most cases occur randomly during egg or sperm formation and are not inherited. However, a rare type, called translocation Down Syndrome, can be inherited and may pose a recurrence risk in future pregnancies. Genetic counselling helps assess this risk.
💡 Can Down Syndrome be detected before birth?
Yes! Several prenatal screening and diagnostic tests can detect Down Syndrome:
✔ Screening Tests (done in all pregnancies):
🔹 Blood tests like dual marker, triple marker, or quadruple marker tests
🔹 Ultrasound scans at the 3rd and 5th months may show signs suggesting Down Syndrome
✔ Confirmatory Tests (for a definitive diagnosis):
🔹 Non-Invasive Prenatal Testing (NIPT) – A simple blood test from the mother, with a 99% detection rate (still considered a screening test)
🔹 Amniocentesis or Chorionic Villus Sampling (CVS) – Tests that analyze the baby’s genetic material but carry a small risk of miscarriage
💡 Can individuals with Down Syndrome live independent lives?
Absolutely! With the right support, many individuals with Down Syndrome complete schooling, work in various jobs, and contribute to society.
✔ John’s Crazy Socks – A successful business started by a young man with Down Syndrome
✔ Zainika Jagasia – A remarkable model with Down Syndrome
✔ James Martin – An actor with Down Syndrome who starred in an Oscar-winning film
Some individuals even have exceptional skills (savant abilities) in music, art, or sports. Many can take up minor jobs and lead semi-independent or fully independent lives.
💡 How intelligent will a child with Down Syndrome be?
In our experience, the average IQ is around 50, but we have seen individuals with IQs as high as 90, which is near normal. Intelligence varies on a spectrum and is influenced by:
✔ Early interventions
✔ Physical therapy, occupational therapy, and speech therapy
✔ Personal strengths and talents
💡 Life Expectancy?
Most individuals with Down Syndrome live beyond 40 years, unless they have severe heart disease. A small percentage may develop certain types of blood cancer, which can be life-threatening.
💡 Can Down Syndrome occur again in a future pregnancy?
Usually no, except in cases of balanced translocations. To confirm recurrence risk, we perform genetic tests on both parents.
✔ Over 95% of parents do not carry a translocation, meaning the recurrence risk is very low.
✔ However, this risk is slightly higher than in couples with no history of Down Syndrome.
✔ We recommend amniocentesis for future pregnancies to confirm normal fetal status or, at the very least, an NIPT test.
Genetic Testing and Counselling for Down Syndrome
At our center, under the expertise of Dr. Roshan Daniel, we provide comprehensive genetic care for families affected by Down Syndrome. We offer:
✔ Genetic testing for chromosomal disorders
✔ Prenatal screening and genetic counselling
✔ Personalized medical management plans
✔ Online genetic consultations for remote patients
If you have concerns about genetic conditions, prenatal testing, or need expert advice, we’re here to help.
Join Us in Spreading Awareness!
Down Syndrome is just one of the many genetic conditions that require awareness, early diagnosis, and specialized care. Through our 28 Days, 28 Rare Diseases campaign, we aim to highlight rare genetic disorders, the power of genetic testing, and advances in medical genetics.
📢 No disease is too rare to care. Help us spread awareness and support families on their genetic journey.
For expert guidance on genetic counselling, testing, or Down Syndrome management, reach out to our center today! 💙