The National Trust India shows statistics that Down Syndrome occurs 1 in every 800 live births, worldwide. In India, there are 40,000 people with Down Syndrome. 

Down syndrome is the leading genetic cause of intellectual disabilities in children. This cognitive disability is also linked to other health challenges, such as heart conditions and digestive concerns. However, with continuous awareness and early support, individuals with Down syndrome can thrive and live a comfortable life. 

 

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What is Down Syndrome?

We know that every human cell contains a nucleus, the control centre for genetic instructions. These instructions, found in genes, determine traits like eye colour and height. Genes are organised on chromosomes, with each cell holding 23 pairs, half from each parent.

Now, Down syndrome occurs when there’s an extra full or partial copy of chromosome 21, adding an extra layer of genetic information. Some individuals may have traits like lower muscle tone, a smaller frame, slightly upward-tilted eyes, or a single deep crease across the palm.

 

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Distinct Signs of Down Syndrome

According to a study cited in the National Down Syndrome Society, people with Down syndrome all over the world may look similar to each other, but in reality, no two children or individuals are the same. In fact, some may exhibit these features prominently, while others may not show them at all. The physical traits of Down syndrome are often noticeable at birth and become more distinct as the child grows.

Some of the most acknowledged physical features include:

• A flatter facial profile, especially around the nose bridge
• Almond-shaped eyes with an upward slant
• A tongue that may naturally protrude from the mouth
• A short neck
• Smaller ears, hands, and feet
• A deep, single crease across the palm (palmar crease)
• Shorter pinky fingers
• Loose joints or lower muscle tone
• A height that’s below average for their age

In addition to these physical features, some individuals with Down syndrome may experience health conditions such as:

• Heart defects present at birth
• Hearing impairments
• Obstructive sleep apnea, which affects breathing during sleep

 

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Types of Down Syndrome

Trisomy 21 (Nondisjunction): Trisomy 21 occurs when chromosome 21 fails to separate properly in the sperm or egg. This error results in an embryo with three copies of chromosome 21 instead of two. This affects about 95 per cent of Down syndrome cases.
Mosaic Down Syndrome (Mosaicism): Mosaic Down syndrome, which makes up about 2 per cent of cases, involves a mix of normal cells (46 chromosomes) and cells with an extra chromosome 21 (47 chromosomes). This variation can result in a wider range of characteristics and abilities.
Translocation Down Syndrome: Mosaic Down syndrome, which makes up about 2 per cent of cases, involves a mix of normal cells (46 chromosomes) and cells with an extra chromosome 21 (47 chromosomes). 

 

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Is Down Syndrome Hereditary?

As per a report by the Central Mississippi Down Syndrome Society, all three types namely trisomy 21, mosaicism, and translocation are genetic conditions, but only a small percentage of cases (about 1 per cent) have a hereditary link. Trisomy 21 and mosaicism are not inherited, while about one-third of translocation cases may have a genetic component passed from parent to child. However, even this accounts for just 1 per cent of all Down syndrome cases.

While maternal age can slightly increase the chances of having a baby with Down syndrome, the majority, about 80 per cent are born to mothers under 35. This is simply because younger women give birth more often. Additionally, Down syndrome affects both boys and girls equally.

Despite common characteristics associated with the condition, people with Down syndrome inherit more physical and personality traits from their birth families than from the syndrome itself.

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What Are The Chances of Down Syndrome in a Second Child?

For women who have previously given birth to a child with trisomy 21 (nondisjunction) or translocation, the likelihood of having another child with trisomy 21 is approximately 1 in 100 until the age of 40. In cases of translocation Down syndrome, the risk of recurrence varies based on which parent carries the translocated chromosome. If the father is the carrier, the risk stands at about 3 per cent. However, if the mother carries it, the risk increases to between 10 and 15 per cent.

 

Potential Health Complications

While every individual with Down syndrome is unique, some common health concerns may arise. People with Down syndrome have a higher likelihood of experiencing:

• Heart conditions: Nearly half of babies with Down syndrome are born with congenital heart defects, some of which may require surgery.
• Hearing and vision difficulties: Many individuals may have hearing loss or eye conditions like cataracts or crossed eyes.
• Digestive issues: Some may experience issues such as celiac disease, acid reflux, or intestinal blockages at birth.
• Weaker immune response: This can make them more prone to infections, including respiratory illnesses.
• Thyroid imbalances: An underactive thyroid (hypothyroidism) is more common in individuals with Down syndrome.
• Sleep disorders: Obstructive sleep apnea, which affects breathing during sleep, is a frequent concern.
• Low Muscle Tone (Hypotonia): Most babies with Down syndrome have weak muscle tone, making movement and motor skills harder to develop. Loose joints can affect balance, increase energy use, and raise the risk of fractures and spinal issues.
• Seizures: About 5-13 per cent of children with Down syndrome experience seizures, with 40 per cent occurring before age one. Thankfully, they respond well to treatment, improving their development.
• Higher Risk of Alzheimer’s: By age 60, 50-70 per cent of people with Down syndrome develop early-onset Alzheimer’s, likely due to an extra amyloid precursor protein (APP) gene, which is linked to dementia.

 

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How Down Syndrome Is Diagnosed

There are two main types of tests. One is done before birth and the other one is done after the birth of the child to diagnose Down syndrome:

• Screening Tests: These are non-invasive tests during pregnancy that estimate the likelihood of the condition. They include blood tests and ultrasounds to look for certain markers.
• Diagnostic Tests: If screening results suggest a higher chance of Down syndrome, diagnostic tests like amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) can confirm the condition with certainty. After birth, Down syndrome is typically identified based on physical features and confirmed with a karyotype test, which analyses the baby’s chromosomes.

 

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Managing and Supporting Individuals with Down Syndrome

While Down syndrome is a lifelong condition, early support and therapies can significantly improve development and independence. Key interventions include:

• Speech Therapy: Helps with communication skills, making it easier for individuals to express themselves.
• Physical Therapy: Focuses on building muscle strength and coordination to aid in movement.
• Occupational Therapy: Teaches essential life skills such as self-care, writing, and using tools.
• Educational Support: Specialised learning programs help children with Down syndrome reach their full academic potential.

For a better understanding, genetic counselling is recommended. A genetic specialist can assess whether a parent carries the translocated chromosome and provide guidance on future pregnancies. 

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Language Guide To Use For Down Syndrome

Always use the right language or phrases to show respect and dignity for individuals with Down syndrome. 

Here’s how to talk about Down syndrome in a respectful way:

1. Put people first. Say “a child with Down syndrome” instead of “a Down syndrome child.” Avoid terms like “Down’s child” or “He has Down’s.”

2. Down syndrome is a condition, not a disease. It’s something a person has, not something they suffer from or are afflicted by.

3. Use “typically developing” instead of “normal.” This avoids implying that people with Down syndrome are not typical in their own way.

4. Say “intellectual disability” or “cognitive disability” instead of outdated terms. The phrase “mental retardation” is no longer appropriate.

5. Never use the word “retarded” as an insult. It’s offensive and wrongly suggests that people with disabilities are not capable.

The way we talk about Down syndrome matters. Using respectful and accurate language helps break stereotypes, promote inclusivity, and recognise the dignity of individuals with Down syndrome. By focusing on abilities rather than limitations, we create a more supportive and accepting world where everyone has the opportunity to thrive. Choosing the right words, every step toward understanding makes a difference.

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