It’s one of the most frequently occurring birth defects and the most common genetic reason for mental retardation. So what is Down syndrome and how do parents cope? 

Nine months waiting and then comes the special day. The day your baby is born, the day a new life comes into the world, the day you’ve been waiting for. But what if your baby has Down syndrome?

‘I wouldn’t be without her and I wouldn’t have it any other way,’ says Melissa Cotterwill, 37, of her three-year-old daughter, Alyssa. ‘She means the world to me and Down syndrome is such a small part of who Alyssa is. She is a person first and foremost and I just love her to bits.’ 

Down syndrome affects about one in every 800 births and 40 to 50 percent of these babies will have a congenital heart defect. All will have intellectual disabilities and developmental delays – though this can vary from mild to severe.

What is Down syndrome?

Down syndrome is one of the most frequently occurring birth defects and is the most common genetic reason for mental retardation. It is a condition that causes delays in the way a child develops, both mentally and physically, because of extra genetic material.

Normally, at the time of conception, a baby inherits 46 chromosomes from its parents (23 from the mum and 23 from the dad). In around 95 percent of cases of Down syndrome, a child gets an extra chromosome 21 – a total of 47 chromosomes instead of 46. Translocation (which refers to the rearranged chromosome material) and mosaicism (when a person has more than one type of chromosomal makeup) account for the other five percent.

Most cases of Down syndrome result from gamete cell division and are not inherited, but a small percentage of children do inherit the chromosomal defect from one of the parents, and there is no way to correct the chromosomal error that occurs. ‘Incidences of Down syndrome have been found in every race and social class throughout history,’ explains Dr Lynn Banna, a consultant paediatrician who works in both private and public settings in Newcastle, NSW. ‘While we don’t know why it happens we do know that there is nothing that can be done prior to or during pregnancy to prevent it.’

Health & Down syndrome

Children with Down syndrome are more likely to experience health and medical problems.

Some that may occur include:

• Forty to 50 percent will have a congenital heart defect. Today surgery is usually performed in the first months after birth if it is a complex problem, which has played a huge part in prolonging the life expectancy of a person with Down syndrome (in 1983 life expectancy was 25 years; now it is 55).

• Eyesight and hearing problems are common. Fifty to 75 percent of children will experience middle ear infections (in particular, glue ear). Hearing loss also occurs in 75 percent of cases. Occasionally small, white patches called Brushfield spots can be seen on the edges of the eyes – but these are not harmful.

• Obstructive sleep apnoea occurs in 50 to 75 percent of cases.

• Children are more prone to colds, infections, inflammation of the eyes and skin rashes.

• Thyroid disease occurs in 15 percent of cases.

• A baby may have poor muscle tone (known as hypertonia). Muscles can be strengthened with exercise and body movement.

Prenatal testing

Though Down syndrome can’t be prevented, it can be detected before a child is born. ‘Prenatal testing, once limited to women considered “high risk”, is increasingly a routine part of all pregnant women’s antenatal care. Hundreds of genetic conditions can currently be identified through prenatal diagnosis,’ says Dr Banna.

Historically, maternal age can be viewed as the first “screening test” for foetal chromosome abnormalities because the risk of having a child with Down syndrome increases with age. For a 25-year-old woman the risk is one in 1,300, for a 35-year-old it is one in 365 and for a 45-year-old it is one in 30. This is, of course, variable – people age at different rates.

In addition, a collection of fluid under the skin at the back of a baby’s neck, called nuchal translucency, can be measured at eight to 15 weeks gestation by using an ultrasound. All babies have this fluid but a child with Down syndrome will have more of it. Next, the maternal “triple test” serum screening can be performed at around 15 to 18 weeks gestation and involves a blood test for serum markers.

‘The likelihood of trisomy 21 (the term for the chromosome abnormality) is calculated on the basis of each of the serum marker results and the patient’s age,’ explains Dr Banna.

Definitive prenatal diagnosis

This is a diagnosis of trisomy 21 and requires cytogenetic analysis of cells obtained in a number of ways. The Chorionic Villus Sampling (CVS) test is done at 10 to 12 weeks gestation and involves taking a sample of cells from the placenta, while early amniocentesis (amnio) is performed at 12 to 15 weeks and second trimester amniocentesis at 15 to 20 weeks. An amnio is a test where a sample of amniotic fluid (the fluid in which the baby floats) is taken. While the miscarriage rate is between one in 500 and one in 300 from an amnio, it’s about one in 100 for CVS.

It’s positive… now what?

If diagnostic testing reveals Down syndrome, parents should be provided with information on the disability as well as assistance in deciding on the course of action they would like to take. The options include continuing the pregnancy and bringing up the child, continuing the pregnancy and giving the child up for adoption or choosing to terminate the pregnancy. Between 80 to 90 percent of women who are given a diagnosis of Down syndrome choose to have an abortion.

Consultation with both counsellors and medical practitioners is important so a decision is made with accurate information and in the right state of mind. If the decision is made to go ahead with the pregnancy, parents need to be put in contact with support groups. Dr Banna explains: ‘I believe that a positive outlook should be encouraged, recognising that improvements in medical care, early intervention, special education and vocational counseling have enabled persons with Down syndrome to lead lives of dignity, meaning and independence. Prenatal testing promotes an emphasis on “reassurance”, “choice” and “control”.’

What’s life with a Down syndrome child like?

One mother who chose not to seek out any early screening or testing procedures, and to just have the routine ultrasound halfway through her pregnancy, is Siobhan Beavis, 35, mum to fiveyear- old Joel. ‘It was at this point that indicators of Down syndrome were found,’ she says.

For Siobhan the heart defect prognosis was of more importance. She says, ‘We didn’t know if we would even get to the stage of having to face Down syndrome as we did not know if the heart complications were survivable. In hindsight this actually helped us develop perspective.’

After seeing a specialist and learning that the heart condition, although serious, was treatable, Siobhan felt great relief. ‘Knowing our baby was not going to die made Down syndrome feel like it wasn’t such a big deal in comparison,’ she says.

It was at this point that she decided to go ahead with amniocentesis to confirm that the baby definitely had the disorder. ‘I had never thought I would have an amnio but I didn’t want to go through the rest of my pregnancy with the false hope that everything would be fine and when the baby was born, be disappointed.’

The birth of any baby is an exciting time for parents and relatives but when a child is born with a health problem or a disability this joy may be replaced with worry, anger, shock and grief.

For Siobhan, knowing what to expect helped: ‘We felt we both really needed to know for sure so we could grieve and prepare, and then greet our baby with joy and love. And this is exactly what happened. By the time of Joel’s birth we’d accepted the diagnosis and moved on, as had our families and friends. He was welcomed with so much excitement. It was wonderful.’

Most children with Down syndrome live fulfilling lives, and are generally healthy and active. They have certain physical attributes like slanted eyes, shorter arms, legs, fingers and toes, and a smaller, flatter nose, but they also have the physical attributes of their parents. ‘Joel refuses to be defined by his syndrome. It is a part of who he is but it does not embody him,’ says Siobhan.

And, of course, life can sometimes be a challenge for her. Children with Down syndrome develop at a slower pace and require extra help. ‘The frustrating aspect of this is that we endure the challenging habits and stages of childhood for longer. However, on the positive side, we enjoy the delightful habits and stages for longer too,’ she says.

Every parent and child copes and interacts in different ways. For Melissa it was knowledge about the condition that helped her understand her daughter, Alyssa, more. ‘I learned not to worry about the milestone delays or compare her to a typical developing baby,’ she says. And she got everyone involved: ‘Our immediate family and close friends (close to 35 people) all attended a sign language course at my place recently to learn how to use signing so they could communicate effectively with Alyssa,’ she says. ‘Her hearing is 100 percent but we still use the signing when we talk to her so she can communicate back to us. Once the acquisition of speech has been achieved the signing will drop away automatically.’

Early intervention programs

Children with Down syndrome develop at a slower rate but there are many ways in which parents can provide encouragement to help them reach their potential, including through early intervention programs available from specialists and health care professionals, including special educators, occupational therapists, speech therapists and social workers.

Children will need different programs depending on their personality and intellectual capability. The most important factor is to provide opportunities. Generally:

• As a toddler, early intervention programs can be centre based, home based or a mixture of the two.

• From birth to school age, children may attend preschool, playgroups and childcare centres. Special care settings are also an option as are mainstream environments. You may choose to use one or both depending on your child and their needs.

• Schooling is an important decision. Special school settings as well as mainstream schools are options. A child may go to a mainstream school but attend special developmental programs. By attending a mainstream school a child will link with and grow up with other children in the area (if attending a public school). They will be exposed to a range of experiences and be challenged in a variety of ways.

‘Government services are available, however the waiting lists are incredibly long,’ explains Siobhan. ‘Fortunately, a number of education-based charities exist to fill the gap.’ For Siobhan, balance is the key. Joel attends a mainstream preschool two days a week, an early intervention facility two mornings a week, and has regular speech and occupational therapy sessions.

The main thing to remember when choosing programs is to focus on the child’s abilities – what they can and can’t do, what they enjoy and what they dislike. Playing, encouraging learning and stimulating intelligence through all the senses will help a child with Down syndrome learn.

What about adulthood?

Only 10 to 15 percent of people with Down syndrome are profoundly intellectually disabled – the majority have mild to moderate impairment and some have a normal IQ.

Many adults are able to live independently and work. Job Access, an Australian government initiative, has various solutions and adjustments that employers can make to assist adults with

Down syndrome. These include:

• Organising the work day with set structure and routine.

• Use prompts to trigger memory and recall such as alarms and computer alerts, or use of a buddy system.

• Education for coworkers about the condition, and any information about the person such as how they best communicate.

• The use of adaptive technology to overcome any barriers associated with hearing or vision loss.

Health-wise, adults with Down syndrome may experience premature ageing, as well as memory loss, dementia and impaired judgment – similar to Alzheimer’s but closer to 40 years of age than 80. Family members need to be prepared to intervene when needed.

Melissa says: ‘Michael worried about Alyssa’s future as an adult. While we have learned that she will no doubt experience some limitations in the future due to her intellectual disability, her life so far has proved to be one of achievements and milestones.’

Today there are many services nationwide for both parents and carers to help deal with and understand Down syndrome. ‘The Down Syndrome Association of NSW is especially fantastic in offering support and education to parents and carers on an ongoing basis – from the time a baby is born right through to adulthood,’ Melissa says. There is a Down syndrome association in each state.

For Melissa, the birth of Alyssa opened up a whole new world: ‘I have thrown myself into voluntary fundraising for Down Syndrome NSW, and I’m passionate about education and awareness of people who are living with Down syndrome. I hold my own annual market day fundraiser in the Sydney suburb of Wattle Grove each March. I also run monthly morning tea support groups for other mums of babies and children who have Down syndrome. ‘I think my own ignorance and lack of knowledge at Alyssa’s birth has inspired me to do the work I’m doing.’