Down syndrome is a condition in which a baby is born with an extra chromosome chromosome number 21.

Down syndrome, also called trisomy 21, happens by chance, can’t be prevented, and isn’t caused by anything a parent did or didn’t do. 

Types of Down Syndrome:

Trisomy 21

Did you know that most people with Down syndrome (about 95%) have a type called Trisomy 21? This means that every cell in their body has an extra chromosome 21. This is important information to be aware of when understanding the condition and how it affects individuals.

Translocation Down Syndrome

3-4% of people with Down syndrome have a variation called Translocation Down syndrome. This is when a partial chromosome 21 attaches to another chromosome. This variation doesn’t change the overall impact of the condition, but it can sometimes be hereditary. If that’s the case, parents may be advised to have blood tests and genetic counseling.

Mosaic Down Syndrome

It’s worth noting that a small percentage (around 1-2%) of individuals with Down syndrome have something called Mosaic Down syndrome. This happens after conception, where only some cells in the body have the extra chromosome 21, while the rest have the typical genetic composition.

This can sometimes mean that fewer characteristics associated with Down syndrome may be present and they may be expressed to a lesser degree. 

What is a Chromosome?

A baby inherits genetic information from its parents in 46 chromosomes, typically 23 from the mother and 23 from the father.

Chromosomes determine how our bodies look and work, including hair and eye color.

What Causes Down Syndrome?

In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46.

This extra genetic material causes the physical features and developmental delays in people with Down syndrome. 

How is Down syndrome diagnosed

Screening for Down syndrome can be carried out before a baby is born. If Down syndrome is not diagnosed before the child is born, doctors will usually identify a baby as having some features which are common to Down syndrome. This can be confirmed by a blood test.

The future for children with Down Syndrome is better than it has ever been. There have been big advances in health care and education. 

These days, people with Down Syndrome can look forward to living long and fulfilling lives with plenty of opportunities. Your child with Down Syndrome can and will learn. 

Your child with Down syndrome will master the kinds of skills other kids do, but they may need more time and support to do so.

Each person is unique, and the way they develop and reach their potential will depend on the individual.

What about our family life?

Every family is different, but many stories and research show that most families that have a child with Down syndrome are stable, successful and happy, and that their siblings often have greater compassion and empathy.

All young children go through rapid and significant changes during the first three years of life. Children with Down Syndrome typically face delays in certain areas of development, so early intervention is beneficial in helping them reach their developmental milestones. The sooner it starts, the better.

What to expect from early intervention services?

Early childhood intervention services are designed to enhance the development of infants and toddlers. These services often include physiotherapy, speech therapy, and occupational therapy to help children develop their physical and cognitive abilities.

However, it is important to remember that a child’s development doesn’t just happen during these sessions; it also occurs within the family setting. Thus, most learning will occur within the family between visits to professionals.

Benefits of early intervention

It’s important to remember that while most children are expected to achieve certain milestones at specific stages, babies with Down Syndrome may have delays in certain areas but they will still reach the same milestones as other children, just on their own timeline.

Every child’s development is unique, especially for babies with Down Syndrome who may have different timeframes. It’s important to understand and celebrate their individual progress.

Milestones

There are specific milestones in each of the areas of development:

• cognitive development – the way we learn and think
• gross motor and fine motor skills − the way we move our bodies
• communication and language
• social and emotional development
• problem solving skills

Some types of early intervention:

• Physiotherapy
• Occupational therapy
• Speech therapy

Always Remember

It’s natural for parents, especially new parents, to expect the professionals to be the ones working with their child and to have all the answers.

But the reality is that the best approach for your child’s development is for parents and professionals to work together and combine their knowledge and expertise.

This way, you can ensure the best outcomes for your child with Down Syndrome. It’s important to remember that you are your child’s best advocate and collaborating with professionals can help you make informed decisions and support your child’s growth and progress.

Physiotherapists focus on helping children develop gross motor skills such as rolling, sitting, crawling and walking.

Babies with Down Syndrome may take longer to achieve milestones such as head control and sitting up, but physiotherapy can help. A physiotherapist can work with parents to show them exercises to do at home to help the baby gain strength and coordination, leading to better outcomes.

For example, during the first three to four months of life, most babies without Down Syndrome are expected to gain head control and the ability to pull to a sitting position (with help) with no head lags and enough strength in the upper body to stay in an upright position.

However, babies with Down Syndrome may have low muscle tone and may take longer to achieve this milestone. In this case, a physiotherapist can work with you, the parent, to show you exercises that you can do with your baby at home to help them gain the strength and coordination needed to reach this milestone. 

As your baby with Down Syndrome develops, they will gradually be able to explore their surroundings, reach and grasp toys, turn their head to follow moving objects, roll over and crawl in pursuit of a desired object.

All of these behaviors depend on both gross motor and fine motor development.