Four Medical Concerns For Babies Diagnosed With Down syndrome
Down syndrome is associated with many medical concerns. I will address what to be aware of in the first few days of life here. I know that this is scary but I reassure you that doctors are able to treat your child for each of these conditions with very good outcomes. Sometimes you will watch and wait, other times your baby may need surgery. Medicine has come a long way and there is so much that can be done for your new baby if he or she requires any intervention.
Up to 50% of children born with Down syndrome have problems with the structure of the heart. This means that there will be a hole between the chambers or abnormal connections. The most common conditions found are an atrial septal defect or ASD (hole between upper two chambers), a ventricular septal defect or VSD (hole between bottom two chambers), or an atrioventricular canal defect (all the chambers are connected). Some of the abnormalities may require immediate surgery, but the majority will require watching and waiting. Below is what a heart looks like so you can see where the different chambers are located. Holes between chambers do not mean that blood is leaking out of the heart, but that they are sharing blood.
Another very common medical condition in Down syndrome is a patent ductus arteriosus. This is not an abnormal connection or a hole. When we are growing inside the womb we do not use our lungs to oxygenate blood, this all comes from our mother. The ductus arteriosus is a normal connection that is used to get oxygenated blood to our body and bypass the lungs.
As soon as our lungs work, which is when we take our first breath, that connection is no longer needed and it is able to close due to some pretty cool things that happen in our body. All babies have to close this connection and it can occur instantly or over several days. Patent means open and so a patent ductus arteriosus is one that remains open. This will be monitored and if it does not close there is a procedure called a catheterization that can close this connection. If your child has other structural changes and needs open heart surgery it can be taken care of during that procedure as well.
Questions to ask your doctor regarding your child’s heart:
• How do you feel my baby is doing?
• Does my baby have a murmur?
• What are my baby’s oxygen saturations?
(You want 100% or as close to that as you can get. It can take several hours for a newborn to have saturations at a normal level as they transition to breathing air outside of the womb.)
• When will my child be seen by a cardiologist?
(All children with Down Syndrome need to be evaluated at some point in the first month or so)
• When will my child have an echocardiogram (ultrasound of the heart, just like how they looked at your baby when you were pregnant)?
Gastrointestinal Tract (Gut)
There are two concerns with your child gastrointestinal tract that can present themselves at birth for children with Down syndrome.
1. Duodenal atresia: The duodenum is the first part of the intestines after the stomach. Atresia means abscence or narrowing of an opening. Therefore duedenal atresia means that the duodenum is narrowed or completely closed off. This would not allow food to go through the intestines as expected. Your child will have vomiting within the first few hours of life, which will likely contain bile (green stuff).
2. Hirschprung’s disease: This prevents the child from being able to poop normally or at all due to an abscence of nerves in the rectum or colon. It sounds funny that a lack of nerves would prevent you from being able to poop, but without those nerves the rectum or colon is not able to relax to let poop out. The suspicion for this will increase if the child does not poop in the first 24-48 hours.Things to tell your doctor concerning your child’s GI tract:
• When your child pooped for the first time
• How your child is eating
It is more common for children with Down syndrome to have difficulty hearing. Every child gets a hearing screen prior to leaving the hospital. If your child fails, they will be tested again prior to going home. If they fail a second time you will then see an audiologist for further testing as an outpatient. Do not worry if your child fails the first two tests, as that does not mean for certain that your child cannot hear. Despite passing you will continue to get hearing tests for our child though out their childhood.
Questions to ask your doctor concerning your child’s hearing:
• Did my child pass their hearing screen?
• When should we test their hearing again?
Children with Down syndrome can also have eye concerns. The first one your doctor assesses for is cataracts. This is easily done by looking at your baby’s eyes with an ophthalmoscope. The doctor will be looking for a red reflex meaning that they are able to see the back of the eye without problems.
Other things that can be seen are abnormal eye movements. One that our own son had is called nystagmus. This is a rhythmic beating of the eye while looking one direction. When our son looked left or right his eyes would move back and forth rhythmically. If this is present at birth, it is not as concerning as nystagmus that develops several months to years later.
Children with Down syndrome have weaker muscles even in their eyes which will cause nystagmus. Their eye muscles cannot hold the eye in a certain position for a long period of time so it will beat back and forth. Despite knowing the reason why, they should still see an eye doctor (ophthalmologist, not optometrist). All children with Down syndrome should see an ophthalmologist within the first year of life.
Questions to ask your doctor concerning your child’s eyes:
• Did you see the red reflex?
• Do you see nystagmus or weird eye movements?
• When should we see the eye doctor?
While there are other medical concerns that are unique to each child, these four will be the main concern of your pediatrician during the first few weeks of your precious child’s life. The above are diagnosed based on physical exam and tests done by individuals. There are other medical diagnoses that are found based on blood tests which we address in a later post.
Congratulations on the birth of your new baby. I know this information can seem overwhelming at first, please don’t let it be. As a new parent your first priority is to spend time enjoying being a parent. Don’t let all of this new jargon steal any of the joy away from the greatness of being a parent. 🙂
Yes, even a blog has to have fine print these days. Here is ours: Disclaimer: This post was written by my amazing wife, and the mother of a child diagnosed with Down Syndrome! She is also a pediatrician, but not your pediatrician! All of the information on this website (although great!) is for informational purposes only. Nothing on this site is intended to create a physician-patient relationship, replace the services of a licensed, trained physician, or to be a substitute for medical advice of a physician or trained health professional licensed in your state/Country. You should not rely on any of the information contained on this website, and should contact a physician licensed in your state/Country on all matters relating to your (or someone else’s) health. You agree that you shall not make any health or medical related decisions based in whole or in part of anything contained on this website.