Everything You Need To Know About Down syndrome

In India, anywhere between 30,000 to 40,000 children are born with Down Syndrome every year. Children with DS find it challenging to live life unassisted and without proper training, and yet the country only meets 20% of its schooling requirements. It is primarily because of the stigma around DS children.

Despite the recent uptick in mental health conversation, Down Syndrome is something that continues to fly well under the radar. So, today, let’s demystify Down Syndrome.

What is Down Syndrome?

The term “syndrome” refers to a set of symptoms that tend to occur together. With a syndrome, there is a pattern of differences or problems. An English physician, John Langdon Down, first described this condition.

Down syndrome is a genetic condition in which a person is born with an extra copy of chromosome 21. This means that they have 47 chromosomes, not 46. This can have a massive impact on how their brain and body develop.

The severity of Down syndrome varies among people. This condition results in lifelong intellectual disability and developmental delays. It is the most common genetic chromosomal cause of intellectual disabilities in children. It also commonly results in other medical conditions like heart and digestive system issues.

Down syndrome results in physical, cognitive and behavioural symptoms. Not everyone with Down syndrome has all of these symptoms. Symptoms and their severity differ from person to person.

Physical Signs of Down syndrome

Usually, the physical characteristics of Down syndrome are pretty apparent at birth and become more obvious as the baby grows. They can include :-

• A nose with a flat bridge

• Slanting eyes that are pointing upwards

• A shortened neck.

• Tiny ears, hands and feet

• Weak muscle tone at birth.

• The tiny pinky finger that points toward the thumb

• One crease in the palm of their hand is also known as a palmar crease.

• Stunted growth

As the child grows, further symptoms can come up because of the way the body develops in the uterus, including :-

• Infections of the ear of hearing loss.

• Vision issues or eye diseases.

• Dental problems

• Being more susceptible to infections or illnesses.

• Sleep apnea that obstructs

• Congenital heart ailments.

The doctor will regularly check for these and other conditions that might result in additional symptoms throughout your child’s life.

Cognitive Symptoms of Down Syndrome

DS results in intellectual or developmental disabilities of varied degrees. The ability to meet developmental milestones for a child with DS might differ from other children, including the way that they

• Move and walk (FIne and gross motor skills)

• Speak (Developmental of language skills)

• Learn (Cognitive Skills)

• Play (social and emotional skills)

Because of this, it becomes all the more important to be patient with

• Toilet training.

• First words.

• Their first steps

• Eating food.

Behavioural symptoms of Down syndrome

Since DS alters cognitive and motor skills, the brains of people suffering from DS function differently from others. For the same reason, people with DS exhibit behavioural symptoms like :-

• Being stubborn or throwing tantrums.

• Issues with paying attention.

• Obsessive or compulsive behaviours.

Human cells mostly have 23 pairs of chromosomes. One chromosome in each pair comes via the sperm, the other from the egg.

Down syndrome results from an unusual cell division involving chromosome 21, which results in an extra partial or full chromosome 21.

This extra genetic material impacts how the body and brain develop. It is responsible for the physical features and developmental problems of Down syndrome.

Any one of three genetic changes can cause Down syndrome.

Trisomy 21

Around 95% of the time, Down syndrome is caused by trisomy 21. This means the person has three copies of chromosome 21 instead of the regular two copies.

This extra chromosome 21 is in all cells of the body. Trisomy 21 occurs because of an unusual cell division during the development of the sperm or egg cell.

Mosaic Down syndrome

This is a rare form of Down syndrome. People with mosaic Down syndrome have only certain cells with an extra copy of chromosome 21. This mosaic of typical and changed cells is the result of an unusual cell division after the egg has been fertilised by the sperm.

Translocation Down syndrome

In a tiny number of people, Down syndrome can happen when a part of chromosome 21 becomes attached, also known as translocated, onto another chromosome. This could occur prior to or at conception.

The person has the usual two copies of chromosome 21 but also has extra genetic material from chromosome 21 attached to another chromosome.

Usually, Down syndrome is not passed down in families. The condition is the result of a random unusual cell division. This can occur during the development of the sperm cell or egg cell or early development of the baby in the womb.

Translocation Down syndrome can be passed from parent to child. However, only a tiny number of children with Down syndrome have translocation, and only some of them got it from their parents.

Either parent could have a balanced translocation. The parent has some rearranged genetic material from chromosome 21 on another chromosome but no extra genetic material.

This implies that the parent has no signs of Down syndrome but can pass an unbalanced translocation on to children, resulting in Down syndrome in the children.

Some parents, more than others, have a greater risk of having a baby with Down syndrome. Risk factors include

Older Age

The chances of birthing a child with Down syndrome go up with age because older eggs have a higher risk of unusual chromosome division. The risk of having a child with Down syndrome goes up after a pregnant person is 35 years of age.

However, most children with Down syndrome are born to pregnant people under the age of 35 because they have far more babies.

Being carriers of the genetic translocation for Down syndrome

Either parent could pass the genetic translocation for Down syndrome to their children.

Having had one child with Down syndrome

Both parents who have one child with Down syndrome and parents who have a translocation themselves are at a higher risk of having another offspring with Down syndrome. A genetic counsellor could assist parents in understanding the risk of having a second child with Down syndrome.

Health concerns that come up from having Down syndrome can be mild, moderate or severe. Some children with Down syndrome are healthy, while others might have serious health complications. Some health concerns could pose more of a problem as the person gets older.

Health issues can include -

Heart Problems

Around half of children with Down syndrome are born with some kind of heart condition that is present at birth. Such heart issues can be life-threatening and might require surgery in early infancy.

Problems with the digestive system and digesting food

Stomach and intestinal issues occur in certain children with Down syndrome. These might include changes in the very structure of the stomach and the intestines. There is a greater risk of developing digestive issues like intestinal blockage and heartburn, also known as gastroesophageal reflux disease (GERD) or celiac disease.

Immune system problems

Because of immune system differences, certain people with Down syndrome are at a higher risk of developing autoimmune disorders, some types of cancers, and infectious diseases like pneumonia.

Sleep Apnea

Soft tissue and spinal changes can result in blockage of the airways. Children and adults with Down syndrome are at greater risk of obstructive sleep apnea.

Being overweight

People with Down syndrome are at risk of being overweight or obese when compared to the general population.

Spinal Problems

Certain people with Down syndrome might observe that the top two vertebrae in the neck might not line up as they must. This is known as atlantoaxial instability. Because of this condition, people are at risk of serious injury to the spinal cord from activities that bend the neck a little too much. Certain examples of such activities include contact sports and horseback riding.

Leukaemia

Young children with Down syndrome have a higher chance of developing Leukemia.

Alzheimer’s Disease

Having Down syndrome increases your risk of developing Alzheimer’s Disease. Also, dementia happens at an earlier age than that in the general population. Symptoms might start at around age 50.

Other issues

Down syndrome might also be linked to other health conditions like thyroid problems, ear infections, dental problems, seizures, vision and hearing issues, and more. Conditions like depression, anxiety, autism and ADHD could also be more common.

To sum up, people with Down syndrome have unique strengths and capabilities, and with the right support, they can lead fulfilling, meaningful lives. As a society, it is our collective responsibility to foster inclusivity by promoting awareness, providing early intervention and creating opportunities for education, social integration and employment.

Legal protections, like the Rights of Persons with Disabilities Act, make sure that people with Down syndrome are given the same rights and opportunities as everyone else.

However, the work doesn’t end with legislation. It is our responsibility to continue advocating for a more inclusive world where differences are celebrated and everyone can thrive.

By offering empathy, understanding and the necessary resources, we can make sure that people with Down syndrome are empowered to live to their fullest potential and contribute meaningfully to society.

FAQs

What is Down syndrome?

Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21, leading to developmental delays and intellectual disabilities. This condition can affect a person’s cognitive abilities, physical growth, and features, but individuals with Down syndrome can lead fulfilling and productive lives with the right support.

What causes Down syndrome?

Down syndrome is caused by an extra chromosome 21 in a person’s cells. This can happen during the formation of the egg or sperm or during early fetal development. It is not caused by anything the parents did or didn’t do, and it can occur in families of all backgrounds and ages, although the risk increases with maternal age.

What are the common signs and symptoms of Down syndrome?

Common characteristics of Down syndrome include distinct physical features such as almond-shaped eyes, a flat nasal bridge, and a small mouth. Individuals may also experience developmental delays, such as slower speech and motor skill development, and may have certain health conditions, such as heart defects or thyroid problems.

Can people with Down syndrome live independently?

Many individuals with Down syndrome can live independently, particularly with the support of their families, communities, and appropriate services. While some may need assistance with daily tasks or personal care, others can live on their own or in supported living environments, hold jobs, and maintain meaningful relationships.

What support and resources are available for individuals with Down syndrome?

There are many resources available for individuals with Down syndrome and their families, including early intervention programs, speech and occupational therapies, inclusive educational opportunities, and social support groups. Various non-profit organisations also provide information, advocacy, and community connections to help individuals with Down syndrome live full and independent lives.