Preventive Health Care for Children with Down Syndrome
By Dr. Aven Poynter, with Glen Hoos
Reprinted from 3.21: Canada’s Down Syndrome Magazine (Issue #10: The Medical Issue). Click here to download the full magazine.
Thanks to medical research, a better understanding of Down syndrome, and shifting societal norms, people with Down syndrome can expect to live longer, healthier, and happier lives than ever before. However, when a child with Down syndrome is born, his or her family is quickly introduced to a world of medical specialists, tests, and appointments that they may have never previously encountered. Those early days can be undeniably overwhelming.
Cardiology, neurology, oncology, otolaryngology, gastroenterology, psychiatry, urology, ophthalmology, audiology… It’s a whole lot of ‘ologies,’ and a whole lot to keep track of. Here, we’ll cut through the confusion and explain the most important steps to ensuring a healthy start for a child with Down syndrome.
As it does for all of us, the medical journey of a person with Down syndrome begins at birth, with a physical exam. If Down syndrome was not diagnosed during pregnancy, it is usually identified at the time of the newborn physical exam. As a pediatrician, I was often called in to see a baby shortly after birth because the family doctor and nurses noticed some of the common physical characteristics of Down syndrome.
In many cases, I would be the first professional to tell the parents that their baby may have Down syndrome. At these times, I always wanted to convey that we (the medical team) were here to support them, and we expect that their child is going to grow up to be healthy and happy and achieve his or her potential. It is a big piece of news for the family – not necessarily a terrible piece of news, but not what people are expecting to hear. Everyone reacts differently. Some have a lot of questions right out of the gate, but in many cases parents would just be trying to take it in, and the questions wouldn’t come till later.
Another thing we’re looking at in the initial physical exam is the heart. Many babies with Down syndrome are born with a cardiac defect, which may be apparent when we hear a heart murmur. All babies with Down syndrome should be seen by a cardiologist. Depending on what kind of murmur we might hear and what the infant’s oxygen levels are, it may be a really, really urgent referral – like, today – or it may be a referral that can wait a few days. If the baby is very stable from a cardiac point of view, and we don’t hear a murmur, then we can probably wait a few days or even a couple of weeks.
We also need to ensure that the gastrointestinal system is working properly, in terms of feeding, possible vomiting, possible constipation. We observe for signs of bowel obstruction, which is not common, but a little bit more common than in typical kids.
We monitor all babies for jaundice, which is more common in babies with Down syndrome, but not a big problem. If they’re too jaundiced, we treat it the same as we would with any other baby.
As with all newborns, we do a heel prick for metabolic screening, which includes screening for hypothyroidism – a condition which is much more common in people with Down syndrome. It’s usually acquired a bit later in life, but there is a slight increase in congenital hypothyroidism.
The confirmation of the diagnosis of Down syndrome, and the type of Down syndrome, is made by chromosomal analysis, which is done by a blood test. We also do a complete blood count (CBC) because there may be problems with the red blood cell count (polycythemia) or with the white blood cell count. Transient myeloproliferative disorder, a condition in which the bone marrow is making a lot of white blood cells, is something that occurs in some newborns and very young infants who have Down syndrome. There’s no treatment needed, just monitoring; generally we would refer these babies to a hematologist to help us monitor them until it resolves, which might be within a few weeks or a few months. Myeloproliferative disorder itself is not a major concern; however, babies with Down syndrome who have had it are at increased risk of leukemia later on in childhood or adolescence, so we keep a closer eye on that going forward.
All of this testing feels like a lot for families who are already dealing with an unexpected Down syndrome diagnosis, but actually, much of it is standard testing that all babies go through. There’s definitely extra, though, when you’ve got a little one with Down syndrome.
Just like at birth, many of the medical routines for an infant with Down syndrome are the same as for any baby, including routine well baby care; routine immunizations at two, four, six and twelve months; monitoring
their weight and growth, which will be plotted on a growth chart for Down syndrome. They should also have influenza immunization, because they are at increased risk of respiratory infections and bronchitis. If the baby has a cardiac defect, they may also be eligible for RSV prophylaxis, depending on their cardiac status and their lung status. Blood tests need to be done every six months during infancy to check thyroid and blood count.
Even if the newborn hearing screen was normal, hearing tests should be done every six months starting in infancy. Most babies and young children with Down syndrome end up needing to see an ear, nose, and throat surgeon; many need tubes in their ears because they have chronic middle ear effusions. Some will have neurosensory hearing loss. So, we generally want pediatric ENT referral fairly early in life with regular follow up.
Similarly, all babies with Down syndrome should see an ophthalmologist (an eye doctor, preferably a pediatric one) – not just an optometrist. An optometrist assesses vision, but most young children with Down syndrome aren’t going to be able to tell you which way the E is pointing on the vision chart. An ophthalmologist, on the other hand, uses special lenses to look at the retina, look for cataracts, etc.
All infants should see a dentist for their first dental checkup before their first birthday. The first appointment is usually a get-to-know-you session, with toothbrushing instructions for parents.
Your child’s pediatrician or family doctor will coordinate the care, and make referrals to specialists as needed. Aside from medical concerns, the other thing that should be done shortly after birth is referral to the local infant development program (IDP). The IDP will provide developmental support such as speech therapy, occupational therapy, and physiotherapy. You will also want to connect with Down syndrome organizations in your area, some of whom may provide support services tailored specifically to children with Down syndrome.
Early and Middle Childhood
Most of the routines established during infancy will continue through early childhood and beyond. This includes monitoring eating and growth; routine immunizations including influenza; regular blood tests and screening for hypothyroidism, iron deficiency and celiac disease; regular hearing tests, follow-up with your ear, nose, and throat specialist, and treatment of respiratory infections; annual appointments with the ophthamologist; regular dental visits; and ongoing work with speech therapists, occupational therapists, and physiotherapists.
Before participating in some sports, children with Down syndrome may be required to have neck x-rays to check for atlanto-axial instability, which can impact their ability to safely participate. You should also watch for symptoms such as changes in the way the child walks; getting easily tired when walking; pain, numbness, or tingling in the neck, shoulder, arms, or legs; head tilting to one side; trouble moving the neck or holding it up; loss of bladder or bowel function; or weakness in the arms or legs.
At this age, you will also want to begin to keep a close eye on your child’s sleep habits. Obstructive sleep apnea is very common in people with Down syndrome. Sleep apnea can have cascading impacts, contributing to behavioural problems, mental health issues, and physical health concerns.
If the child is thriving and isn’t displaying behavioural, mental, or physical manifestations of sleep deprivation, and they aren’t snoring, a sleep study is not necessary. However, if you notice changes in any of these areas, it could be an indication of a sleep disorder, which a sleep study can help diagnose. Unfortunately, sleep studies can sometimes be easier said than done. For one thing, getting access to polysomnography can be really difficult. And if you do, many children and teenagers with Down syndrome resist the testing, which involves having a lot of equipment attached to them and then being told to sleep. Then, if they are diagnosed with obstructive sleep apnea the treatment is CPAP (continuous positive airway pressure), which entails sleeping with a mask that is connected toa compressor by a flexible tubing. This, again, can be met with a lot of resistance.
This is not meant to discourage testing, as sleep apnea is a significant concern that needs to be addressed. Just realize that, for most children, it will likely be a lengthy process rather than an overnight solution. The likelihood of sleep apnea increases with age; for many individuals, the willingness to cooperate with the testing and treatment may also improve over time.
Early childhood is also when some neurodevelopmental, neuropsychiatric, or psychiatric problems are more likely to show up, particularly after a child begins school. Two of the big ones are autism and ADHD.
Ideally, autism would be diagnosed when a child is two or three years old, so early intervention can start. This is more often the case for children do not have Down syndrome, but unfortunately an autism diagnosis often comes later for kids with Down syndrome, due to the overlap in symptoms between the two conditions. Nevertheless, children with Down syndrome have higher rates of autism than the general population, and it’s important to identify it as early as possible.
Likewise, ADHD, anxiety disorders, and obsessive compulsive disorder are more common in children with Down syndrome, although they may be more difficult to diagnose. Often these issues begin to emerge in the elementary school years. We have to be careful to avoid diagnostic overshadowing, where we attribute every problem to Down syndrome, when there may be other issues contributing that can be addressed through therapy or medications.
Late Childhood and Beyond
Most of what we’ve covered above will continue as the child grows older. In addition, the typical issues of adolescence will become relevant, including puberty, sexuality, and skin issues. These tend to occur around the same age as in the general population, and individuals with Down syndrome will need additional guidance in navigating these issues and understanding the changes happening in their body. We invite you to refer to the Summer 2021 issue of 3.21 Magazine (The Teen Issue) for more information on this vital topic. During the mid-teens, your doctor will assist you in beginning the transition to adult medical services.
Every person with Down syndrome is unique. No one child is likely to exhibit concerns in all the areas covered here. The medical life of an individual with Down syndrome can be complex, but we have come so far from the days when these health factors significantly limited lifespans and expectations. Your personal team of medical professionals is here to support you in building a long, healthy, and happy life.
Dr. Aven Poynter is a recently retired Pediatrician, and the past president of the BC Pediatric Society. She is the recipient of the Canadian Paediatric Society Distinguished Community Paediatrician Award and is a clinical assistant professor at UBC. She has also contributed to legislative documents advocating for increased support for neuro-diverse children.