What is Down Syndrome? – A quick guide to understand your child’s diagnosis

Has your child been diagnosed with Down Syndrome?

It is possible you are hearing this term for the first time or you may have heard it in parts and are now navigating what it means for your child and your family.

This guide is here to support you with clear, respectful, and affirming information.

What is Down Syndrome?

Down Syndrome (DS) is a genetic condition that occurs when a person has an extra copy of chromosome 21. It is one of the most common chromosomal differences worldwide.

The most common form of Down Syndrome is Trisomy 21, where every cell in the body has three copies of chromosome 21 instead of the usual two.

This difference in genetic material affects the way the body and brain develop. Children with Down Syndrome may learn and grow at their own pace, and while they may take longer to reach certain developmental milestones, with the right support, they can thrive.

What are the signs of Down Syndrome?

Every child is unique, and not all children with Down Syndrome will show the same features or signs. However, some common signs include:

• Low muscle tone (especially in infancy)
• A flat facial profile
• Eyes that slant upwards
• A single deep crease across the palm
• Shorter height or limbs compared to peers
• Delays in speech and motor development

These physical traits do not define the child. What truly shapes their journey is the love, care, and support they receive.

If you notice delays in reaching early milestones like sitting, walking, or speaking, it is okay to bring it up gently with your doctor or a developmental specialist. Early identification allows you to access support at the right time.

Types of Down Syndrome

There are three types of Down Syndrome. While they all involve extra genetic material from chromosome 21, they differ in how this change occurs:

1. Trisomy 21 (most common – about 95% of cases)
   Every cell in the body has three copies of chromosome 21.

2. Translocation Down Syndrome (about 3-4% of cases)
   A part of chromosome 21 gets attached to another chromosome. The total number of chromosomes remains 46, but the extra material from chromosome 21 causes the typical features of DS.

3. Mosaic Down Syndrome (1-2% of cases)
   Some cells have the usual 46 chromosomes, while others have 47 (with an extra chromosome 21). This might result in milder differences in development.

It’s important to know that the type of Down Syndrome does not determine how much support or therapy a child may need. Each child’s strengths, challenges, and needs are different.

Early support matters

Receiving a diagnosis of Down Syndrome can bring up many emotions. You may feel uncertain, overwhelmed, protective, or even fearful for your child’s future. These feelings are natural.

What helps most in the early stages is support—both for your child and for you as a caregiver.

Early Intervention refers to the set of therapies and supports given to children with developmental differences from birth to age 6. Research and lived experience have shown that children with Down Syndrome benefit greatly from starting early.

Early intervention can include:

• Physiotherapy: Helps improve muscle strength, posture, and motor skills like crawling, sitting, and walking.
• Speech and Language Therapy: Supports communication, feeding, and understanding of language.
• Occupational Therapy: Helps your child with daily activities like eating, dressing, and playing. It also focuses on sensory regulation and fine motor skills.
• Special Education or Early Learning Programs: Prepares children for school in a way that supports their unique learning styles.

These therapies are not about “fixing” your child, they are about supporting them to grow in the best way for them.

Remember: your child learns best through play, love, connection, and feeling safe. Therapies are most helpful when they are gentle, consistent, and woven into your child’s everyday life.

What can help families?

• Start small: You don’t have to know everything on day one. Learn one thing at a time.
• Build your support circle: This might include therapists, pediatricians, community groups, and most importantly, other parents walking a similar path.
• Create routines: Children with Down Syndrome often respond well to predictability and routine.
• Celebrate every milestone: Progress may look different, but every step matters.

Myths and biases about Down Syndrome

Many outdated ideas still exist around Down Syndrome—that people with DS cannot learn, work, or live fulfilling lives. These are not true.

People with Down Syndrome go to school, make friends, have relationships, get jobs, and participate in their communities. With inclusive environments and the right support, they can grow into confident, joyful, and independent adults.

You can read more about these myths and watch inspiring stories of individuals with Down Syndrome here.

Support and next steps

Please read and download the Down Syndrome Fact Sheet shown above, to learn more about the signs, causes, therapies, and help available to care for your child’s needs and growth.

If you have questions about Autism, Down Syndrome, ADHD, or other Intellectual Disabilities or have concerns about developmental delays in a child—the Nayi Disha team is here to help.

Contact our FREE Helpline at 844-844-8996 (call or WhatsApp).
Our counsellors speak English, Hindi, Malayalam, Gujarati, Marathi, Telugu, and Bengali.

There is no single way to raise a child with Down Syndrome. Trust your instincts. Stay curious. Reach out. You are doing the best you can.

With love, patience, and the right support, your child can live a full and meaningful life.

Acknowledgements

Special thanks to Consultant Dr Ajay Sharma, Neurodevelopment Pediatrician, who has offered expert advice and guidance in consolidating this information.

We thank our volunteers Mr Satya Vemuru and Ms Sailaja Tadimeti for the time and effort taken towards translating this content from English to Telugu.

DISCLAIMER

This guide is for informational purposes only. Please consult a qualified health practitioner for proper guidance.