Expert: What Is Down Syndrome?
It is currently estimated that there are about seven thousand people in Ireland with Down syndrome; which affects approximately one baby out of every 546 births. Down syndrome is a lifelong condition, which increases the risk of certain health issues. It may also affect physical development and learning abilities; though each person with Down syndrome is different.
Though many people will be aware of Down syndrome's existence, too few of us are really aware of what exactly it is. So with the support of Down Syndrome Ireland, eumom is endeavouring to find out a little more:
What is Down syndrome?
Down syndrome is a chromosomal anomaly caused by an error in cell division, that results in the presence of an additional third chromosome 21 or “trisomy 21.” This extra genetic material results in the physical and learning characteristics associated with Down syndrome. Down syndrome is one of the most common known causes of intellectual disability.
There are three types of Down Syndrome:
- Trisomy 21 (95%): Extra number 21 chromosomes in every cell.
- Translocation (3-5%): Extra chromosome 21 is attached to another chromosome in every cell.
- Mosaic (1-2 %): A mixture of cells, some with an extra chromosome 21 and some normal cells.
Each baby is an individual, and this is no different for the baby who has Down syndrome: Your baby will have his/her own personality and many family features and characteristics. He/she will be more like his/her family than like any other person with Down syndrome. People with Down syndrome, whatever their age, are people first; with abilities, strengths and weaknesses like everyone else. They may have additional needs, but this doesn't prevent people with DS all over the world leading full and independent lives. The quality of health care, education and community support provided to children and adults with Down syndrome makes a real difference to their quality of life.
When Is It Diagnosed?
Sometimes babies with Down syndrome are identified during pregnancy as a result of pre-natal tests. In the majority of cases however, the presence of Down syndrome is identified soon after birth from the baby’s clinical features, and confirmed with a chromosomal analysis; carried out (by blood tests) to confirm the diagnosis and determine the type of Down syndrome the child has.
If you've just learned that the baby you’re expecting will have Down syndrome, you may be wondering what to expect: The diagnosis can affect us in many ways, physically, emotionally, and psychologically. You may not feel like celebrating; but remind yourself that negative feelings are not a sign of you rejecting your baby. Negative feelings are about Down syndrome, not about your new baby. These feelings are normal, and a healthy reaction to the news you've just received.
But you are not alone: Down Syndrome Ireland aims to help babies with Down syndrome develop, and achieve their potential. And as they grow, the charity provides education, support, and friendship every step of the way, to help make their futures as bright and independent as possible.
Telling Family & Friends
Sharing the news with family and friends may be difficult; but you’ll know when and how best to tell other people. Sharing your news can help you find support and comfort; but remember that people will follow your lead: If you're open, honest and positive about Down syndrome, they will be too.
Sometimes people may inadvertently say very insensitive and hurtful things; but try to ignore these comments, as they often come from lack of knowledge, and understanding, which leads them to say the wrong thing.
Parents generally worry about the effect having a baby with Down syndrome will have on family; particularly the siblings of your new baby. But this may be far more positive than you expect. It is important to talk openly about Down syndrome in everyday life, and to encourage questions; rather than setting aside a day in the future to “break the news”. When everyday opportunities are taken to answer questions, worries are alleviated. As one big brother said: "Knowing what is happening is much better than imagining what might be happening."
What Happens Next?
Early Development focuses on the long-term functional outcome for your child in areas of movement, play, social interaction, communication and independence.
Parents will naturally have questions about the likely severity of their child’s possible learning difficulties; and may focus on the rate of their child’s gross motor development, as this is the first test of the child’s developmental rate.
The rate of gross motor development in children with Down syndrome is influenced by three primary physical problems:
- Hypotonia (low muscle tone)
- Decreased Strength
- Hypermobility of the Joints (loose joints)
In order to cope with these problems, children can develop compensatory movement patterns that may lead to problems later in life. For example, some children with Down syndrome may lack stability, and will compensate by standing and walking with their feet wide apart, and their feet turned out. If this is allowed to persist, problems will develop in their knees and feet, causing walking to become painful, and endurance to be diminished later in life.
Living With Down Syndrome
Having Down syndrome does not guarantee any medical condition. Most children with Down syndrome are healthy and active, and will benefit from a variety of opportunities just like other children in the family. However, they may have a higher incidence of some treatable health problems. For example, approximately 47% of children with Down syndrome will have a heart condition.
To combat this, tests will be carried out in the first six weeks of your baby’s life, including:
- Heart assessment (to rule out congenital heart disease)
- Heel prick (a routine infant metabolic screen for Phenylketonuria (PKU)
- Eye examination
A primary health team will be informed of your child’s diagnosis to make sure they receive the best possible care; and you may meet with a social worker who should inform you of entitlements such as tax allowance, or health benefits. You may also be given a programme of exercises to help your baby’s muscle tone if required; which can be carried out at nappy-changing time, and should take no more than a few minutes at this stage of the baby’s life.
Stimulation, playing, handling, talking and smiling are important in the development of every baby, and this is no different for your baby with Down syndrome. But as (on average) babies with Down Syndrome take about nine seconds longer to react than typically developing babies, make sure you allow your baby time to take everything in, and respond.
Looking at a child’s abilities, strengths and weaknesses is all part of the management and support in Early Development. Early intervention in the areas of motor development, social understanding, self-help skills and behaviour, and speech & language skills, will help prevent unnecessary developmental delays; and can help your baby to thrive. Children with Down Syndrome are usually visual learners. This means that they learn better through their eyes; and find it easier to learn to talk if words are signed as well as spoken.
At five years of age, many children with Down Syndrome can achieve the same developmental targets as their peers. Most will be walking, toilet trained and able to feed and dress with minimal help. Many children with Down syndrome experience significantly delayed spoken language, as their speech may not be clear, though they may understand more than they can express.
Recent studies suggest that children with Down syndrome might perform better in mainstream schools than in Special Needs Schools; though development is also influenced by biological make-up, as some children with Down Syndrome require more support than others.
"The first priority for parents is to maintain normal family life. The most powerful influence on the progress of a baby with Down syndrome is to be loved, wanted and absorbed into the everyday life of the family and of the community. Specific teaching and therapies will definitely help but must be kept in perspective and not allowed to create stress and anxiety for families.” – Profs. Sue Buckley & Ben Sacks.
Ultimately as a parent, the best thing you can do is to be confident about your feelings, and trust your instincts. Make use of your local ‘Early Intervention Services’ and find out what they have on offer. You might also consider making contact with your local branch of Down Syndrome Ireland, they may have services from which your child could benefit; and will provide the opportunity to meet other parents who have been where you are now, offering invaluable advice and shared experience.
The quality of life of people with Down syndrome has improved immensely in the last twenty years. Just like the rest of us, people with Down syndrome now enjoy a longer healthy life expectancy, which can result in living a happy, fulfilling and active life.
Thanks to Down Syndrome Ireland for allowing us to use some of the wonderful information they provide on their site. There's plenty more available, including a great booklet for new parents. Parents can also contact Down Syndrome Ireland's Clinical Research Nurse: Fiona McGrane, on firstname.lastname@example.org or 018963785.
This is part of a series exploring some of the many varied challenges facing parents. Our previous article looks into Coeliac Disease, but there are plenty more to come, or already available in our Child Health Section.