Down syndrome
Down syndrome (DS) is a genetic condition in which a baby is born with an extra chromosome.
We inherit 23 chromosomes from each of our parents, adding up to a total of 46 – but children with DS inherit an extra chromosome so they have a total of 47. This can cause mental retardation and developmental delays. DS affects one baby in every 800 and scientists still don’t know why it occurs. There’s nothing parents can do to prevent DS but the risk of having a baby with the condition does rise sharply among older mothers. If you have had one child with DS, the risk of having another increases to around one in 100-200.
How can I tell if my baby has Down syndrome?
Your first trimester screen, carried out at 11-13 weeks, includes a nuchal translucency test. This measures an area of fluid behind your baby’s neck that has been linked with DS but it can only assess your risk of having a baby with the condition.
If your risk is high, you’ll be offered a diagnostic test such as chorionic villus sampling or amniocentesis. These tests are 99 per cent effective, but because they’re invasive (meaning that they literally ‘invade’ your baby’s space to take a sample of the placenta or amniotic fluid), they carry a risk of miscarriage that may actually be higher than your risk of having a baby with DS. You’ll need to take this into account when deciding whether to have these tests, particularly if you wouldn’t terminate under any circumstances.
What are the characteristics of a baby with Down syndrome?
Children with DS share some obvious physical characteristics. They typically have a flatter profile, small, upward slanting eyes, a wide-bridged nose and extra skin around the eyes (although this won’t affect your baby’s eyesight). They may also have broad hands, with a deep crease across the palm, and a gap between the first and second toe.
What health problems will a Down syndrome child encounter?
• Feeding
A baby with DS is often ‘floppy’, with low muscle tone, although this does gradually improve. It can interfere with breastfeeding, as they find latching on and sucking difficult. It may take a few weeks for your baby to learn to feed efficiently so it’s a good idea to express breastmilk to keep up your supplies. Bottlefeeding can also be problematic, and you may need to use specially adapted nipples for babies who have trouble feeding. Whether breast or bottle feeding, it’s important that you don’t try to hurry your baby through the feed. It’ll take your baby longer, so give him more time and if he falls asleep, give his cheek or toes a tickle.
• Tongue control
DS babies may need more help controlling the muscles in their tongues. There are games you can play with your baby, such as poking your tongue out at him and getting him to mimic you, which will help to strengthen his tongue muscles. Roll your tongue around your mouth to see if he copies.
• Heart problems
One child in three with DS is born with a heart defect. The pediatrician will check your baby’s heart as soon as he’s born to see if there are any problems but sometimes these develop as your child gets older, so he’ll need to have regular checks as he grows up. If a heart defect is present your child may need surgery – your pediatrician can advise you on this.
• Hearing and vision
Around half of children with DS have problems with their hearing and vision, so your child will need to be monitored to ensure these don’t affect his speech and learning.
• Delayed development
Almost all babies born with DS will learn to walk and talk but may reach certain milestones more slowly. Find out about your state’s early intervention programs for children with delayed development (your pediatrician will advise you) and enroll your child as early as possible for physical, occupational and speech therapy as needed. Early intervention programs usually go up to age three – after this your school district is obliged to provide educational services under the terms of the Individuals with Disabilities Education Act. Many children with DS learn to read and write, and do well in mainstream schools.
Having a child with Down syndrome
The emotional affects of having a child with DS will affect you and your family deeply. Your first thoughts will probably be of guilt – that you’re somehow responsible. Try not to blame yourself, as there’s nothing you could or should have done to prevent your child being born with DS.
DS children are happy, delightful children who can bring just as much joy to their parents, grandparents, brothers and sisters as ordinary children. They may need extra help along the way but will benefit greatly from a loving family unit behind them. The emphasis should be on what your child can do rather than what he can’t, so try to focus on the positive steps he’s achieving rather than comparing him to siblings or other children his age who don’t have the condition.
There are many support groups for parents and meeting with other parents who have a child with DS can be really helpful. Contact the National Down Syndrome Society (www.ndss.org; 800-221-4602) for details and advice.
The information on this feature is intended for educational purposes only. If you have any concerns about your health, the health of your child or the health of someone you know, please consult with a doctor or other healthcare professional.