Down Syndrome
Understanding down syndrome starts with kindness. It occurs when there is an extra 21st chromosome in the body. That extra can affect the growth and learning of the individual. Most kids with down syndrome:
- May look a bit different from other kids
- Might learn things a little slower
- Are very loving, joyful, and good at socializing
Book An Appointment
Why Does Down Syndrome Happen?
Humans have 46 chromosomes. In down syndrome, there’s a little change. The total number of chromosomes is 47 because there is an additional copy of chromosome 21. This extra chromosome happens because:
- Trisomy 21(Most common – 94%): In every cell, 3 copies of chromosome 21
- Translocation (About 4%): Part of chromosome 21 is attached to another chromosome
- Mosaicism (About 2%): Only a few cells have the extra chromosome
How Common Is It?
- Occurs in approximately 1 in 700 births
- Maternal age plays a key role. Older mothers are at higher risk
- Age 20: Very low risk
- Age 35+: Higher risk
- Age 45+: Highest risk
What are the Signs You Might Notice in a Newborn with Down Syndrome?
Every baby is beautiful on their own. However, common physical features include:
Body Features
- Floppy muscles (low muscle tone)
- Soft and flexible joints
- Short neck with extra skin
- Small hands
- Deep palm crease
- A gap between big and second toe
Face Features
- Face Features
- Almond-shaped eyes
- Small ears
- Learns or solves problems slowly
- Tiny mouth and nose
- Tongue may stick out
- Brushfield spots (tiny white spots in the eyes)
Expert doctors and therapists for Down syndrome
Children with down syndrome need expert doctors to help them in different ways:
- Tracks growth and development
- Manages regular check-ups and health issues
Developmental Pediatrician
- Focuses on learning and behavior
- Recommends early therapies
Speech Therapist
- Improves speaking, listening, and feeding skills
Occupational Therapist
- Teaches daily tasks like eating and dressing
- Strengthens fine motor skills
Physiotherapist
- Builds muscle strength and balance
Special Educator
- Supports school learning with customized teaching methods
Health Checks After Birth
All babies with down Syndrome should get special check-ups, including:
- Heart scan - To check for heart problems (about 50% have one)
- Hearing test - Because hearing loss is common
- Eye check - For cataracts or blurry vision
- Thyroid test - To check for hormone issues
- Blood test - To look for blood disorders
Growing Up with Down Syndrome
Special Educator
Doctors will check:
- Growth and weight
- How the child eats and sleeps
- Vision and hearing
- Teeth and bones
- Behavior and learning progress
Heart Problems
Not everyone gets these, but some kids and adults may have:
- Holes in the heart
- Valve issues
- May need surgery in some cases
Ear, Nose & Throat Issues
- Trouble hearing
- Frequent ear infections
- Snoring or sleep apnea
Eye Issues
- Blurry vision
- Cataracts
- Eye misalignment (squint or cross-eye)
Digestion Problems
- Constipation or reflux
- Some may have blockages in their stomach or intestines
- More chances of celiac disease
Bone & Joint Issues
- Loose joints
- Curved spine (scoliosis)
- Hip dislocation
- Flat feet
Hormone Problems
- Low thyroid (common) – Needs regular testing
- Diabetes (less common)
Brain & Nerve Issues
- Slower learning
- Some may have seizures
- Adults may get memory problems (similar to Alzheimer’s)
Blood-Related Issues
- Higher risk of infections
- Some may have seizures
- Rare types of leukemia (blood cancer) in children
- Blood thickening in newborns
Can People with Down Syndrome Live a Long Life?
Yes!
- In the 1970s, most children didn’t live past 10
- Now, many live to be 50 or more
- Better healthcare has made a big difference
Can You Know Before the Baby is Born?
Yes. Doctors can check during pregnancy using:
- Ultrasound
- Blood tests
- Other advanced tests (like amniocentesis)
These tests help parents prepare and make informed decisions.
Prenatal Testing
Pregnant women can choose to get tests to check if the baby might have down syndrome.
Two types of tests:
- Screening Tests - Blood tests and ultrasounds that show the chance of down syndrome.
- Diagnostic Tests - More accurate but involve collecting fluid from the womb (amniocentesis or CVS).
These tests help parents prepare in advance.
Treatment and Procedures You Need to Know
down Syndrome is not “curable.” Many medical and developmental interventions are effective in enhancing quality of life.
1. Health Check-ups and Screenings
Doctors usually test for:
- Heart defects (using ECG or echocardiogram)
- Vision and hearing problems
- Growth and nutrition
- Sleep disorders
- Dental health
Speech, occupational, and ABA therapies are pivotal. The ideal age to begin is between 2-3 months of age.
Treatment and Procedures You Need to Know
1. Health Check-ups and Screenings
Schools may create an IEP – Individualised Education Plan for your child. It includes goals, activities, and support needed in class.
3. Surgery and Medical Treatment
Some babies are born with health issues that may need surgery, such as:
- Heart defects (using ECG or echocardiogram)
- Vision and hearing problems
- Hearing problems (inserting ear tubes)
- Digestive blockages
4. Medications
Children may need medicines for:
- Thyroid issues
- Seizures
- Acid reflux
- ADHD symptoms (if present)
Always talk to your child’s pediatrician before starting anything new.
How Does Continua Kids Help?
At Continua Kids, we offer:
- Early therapies (speech, behavior, occupational)
- Regular health checks
- Counseling for parents
- Support for education and school integration
Quick Facts
- down Syndrome is caused by an extra chromosome
- It is not anyone’s fault
- It affects how a child looks, learns, and grows
- Regular checkups and therapies help a lot
- Children with down Syndrome feel, love, laugh and learn like everyone else.
FAQ'S
Need Help or Guidance?
Reach out to our expert team at Continua Kids. We are always there for you and your child at each step along the way.