If you haven’t already, check out our article on What is Down Syndrome.
Starting in Pregnancy
Some moms learn that their doctor suspects Down Syndrome in their baby as early as when they are pregnant. This can be devastating news for a family who is just excited for a new baby. If you’re in this situation, know that you are not alone. Your medical team will be there for you.
When Down Syndrome is suspected while mom is pregnant, doctors will monitor baby’s physical development. They will refer to specialists for medical management as needed. The following are commonly involved as early as during pregnancy:
- A genetic counselor will discuss with the parents their concerns and possible outcomes. There are various possible outcomes for each patient. The counselor will also discuss options for their family planning, and will evaluate risks for the other members of the family.
- Medical specialists may be called in depending on the concerns that arise. Some of these referrals may be done prenatally.
- Ask about support and family groups in your community. Ask your doctor or genetic counselor to share resources regarding Down Syndrome, so you can have access to more balanced perspectives about what outcomes you can expect.
You and your doctors will also make a medical plan for delivery when your pregnancy is carried to term.
What are the medical conditions we need to watch out for?
Not all the conditions listed here will be present in each individual diagnosed with Down Syndrome. Keep in mind that there is great variability in the outcome and presentation of this syndrome.
- Since heart problems are common in kids with Down syndrome, all of them should be seen by a cardiologist. If there is a condition that needs surgical repair, they will need a cardiac surgeon too. Feeding problems may sometimes indicate a heart problem, so always inform your doctor if there are feeding problems.
- Feeding problems, as well as medical and structural problems in their gastrointestinal tract, are quite common too. These conditions may cause problems like reflux and constipation. Some conditions, like Hirschsprung disease, may need surgery.
- In some cases, children may have symptoms of gluten sensitivity. These symptoms include recurrent vomiting, poor weight gain, fouls smelling fatty stools in celiac disease. This will need dietary management. Children with very restricted diets may also have some nutritional deficiencies. Your doctor may request for blood tests to make sure that the child does not lack vitamins and minerals.
- Feeding is also tricky when there is low tone in the oral muscles of a child. Swallowing is a skill that involves coordination, and a lack of coordination can cause choking and aspiration pneumonia. Seek medical consult if your child coughs and has frequent choking episodes during feeding or after feedings. To help prevent this, always place your child in an upright position during mealtimes.
- Respiratory illnesses are also quite common. Your child should receive vaccinations for preventable diseases, unless there are specific contraindications that make it unsafe for your child.
- Ear infections are more common in kids with Down syndrome. Your child should see an ear doctor at least once a year for monitoring. This may need to be more frequent if there are problems noted. If there are ear infections, treat them promptly. Frequent ear infections can affect hearing and worsen language delays.
- Your child will need to see an eye doctor before he is six months old. After that, he will also need a yearly eye check-up. Errors of refraction (e.g. vision is not clear) are very common. Kids need early intervention for optimal development. If a child can’t see clearly, it will affect all aspects of her development. It will affect how she learns to walk or run, how she uses hands, understands facial expressions and emotions, or develops visual-spatial coordination. She will also have a hard time locating the source of sounds and voices, and this will again impact communication skills as well as her safety.
- Thyroid problems are also very common. Even if a baby with Down syndrome has a normal newborn screens, they may still need confirmatory testing for their thyroid function. This is because some newborn screening tests only screen for one thyroid hormone and may miss out testing for the other thyroid hormones. Hypothyroidism (having low levels of hormones) is a treatable cause of cognitive delay if detected early.
Other Things to Watch Out For
It is important to remind parents to keep the spine neutral for these children. In kids with Down syndrome, the cervical spine (spine in the neck area) can be unstable and need more support. It is necessary to keep this in mind for children who have to undergo certain medical procedures. For this reason, activities such as jumping on trampolines are not recommended for kids with Down syndrome. (Trampolines are also not recommended for all kids below six years old. Read more in this article about trampoline safety.)
Symptoms that can indicate injury to the spine may include sudden changes in movement of arms or legs (e.g. weakness, tingling sensations, difficult raising them), neck pains, stiff neck, sudden changes in bowel or bladder habits, and changes/lack of sensation over limbs. Doctors will also monitor for these symptoms, including seizures. Should these symptoms arise, doctors will likely request for imaging to be done. Imaging is not recommended when there are no concerns.
Sleep is essential for a child’s growth and development. Inform your child’s doctor if you notice any persistent snoring, gasps for breath, sudden pauses in breathing, frequent awakenings at night, restless sleep, unusual sleep positions, daytime sleepiness, or persistent behavioural problems. Even if these symptoms are not present, your doctor may still request for a sleep test, called a polysomnogram. This is because studies show that there is a poor correlation in what may be observed, and in the results that a sleep test may provide. Thus, most children with Down Syndrome will be referred for a sleep test by the age of four years.
Kids around the age of three begin to understand that there are different parts of their bodies, and bodies of boys are different from bodies of girls. They also begin to understand the concept of privacy and private parts on their bodies. It is important to teach all children early that their private parts should only be exposed in the context of doctor visits (e.g. physical exams) or hygiene (e.g. cleaning or showering). In children who have disabilities, this is especially important to teach as they are more vulnerable to abuse.
Referrals to therapists – physical, occupational, and speech – are recommended as soon as possible. Early intervention makes a difference. It will help maximize your child’s skills.
What’s next? Read more about helping older kids with Down syndrome.
Preparing for the Future
Receiving news that your child has a disorder is difficult, stressful, and anxiety-provoking. We know that many uncertainties lie ahead. We provide this information based on current practice guidelines to help parents understand what doctors look out for and anticipate to provide timely care. Providing interventions early is always preferred. Individuals diagnosed with Down Syndrome can have full, healthy, and productive lives.
The information we provide in our website is meant to help parents understand certain terms and conditions better. These posts should not take the place of a comprehensive medical consult. Should you have questions or clarifications, we encourage you to reach out to your primary care physician.
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