down syndrome: what this doctor wants you to know about the genetic condition
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down syndrome is a genetic disorder in which a person has an extra chromosome — a copy of chromosome 21 — influencing how a baby’s body forms and functions as it develops during pregnancy and after birth. people with down syndrome have a total of 47 chromosomes instead of 46. it happens randomly, just by chance, during the development of the sperm cell or egg cell.
in canada, about one in every 781 babies is born with down syndrome, and there are an estimated 45,000 canadians living with the condition, according to the down syndrome association of toronto.
to mark world down syndrome day on march 21, healthing spoke with dr. ivan meiszinger, a family physician at foothills medical centre in calgary, alta. he’s worked extensively with children and their families who have special needs, and has researched the lack of access to palliative care as life expectancy has increased for people with down syndrome and other intellectual abilities.
meiszinger also has a brother with down syndrome, luke, 33, who lives with his parents in paris, ont., working at paid and volunteer jobs, and enjoying a healthy social life, too.
what is down syndrome?
dr. meiszinger: it’s a genetic condition where an individual inherits extra genetic material from their mom or dad. and most common in down syndrome, it’s an entire extra chromosome [at position 21, instead of the usual pair]. the medical name for down syndrome is trisomy 21.
what are the risk factors that may impact someone having a child with down syndrome?
dr. m.: there are different thoughts on different risk factors, but the main one that’s been shown is advanced maternal age where the mother is over 35. in saying that, the majority of people who are born with down syndrome are born to women less than age 35 just because the majority of babies are being born in that age range. and that’s across cultures, socioeconomic status and race.
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how is down syndrome diagnosed in pregnancy?
dr. m.: through screening. in modern medicine, we’re taught to offer screening to every pregnant woman who walks through our door. the first one is the first trimester screening, which uses a combination of blood levels, as well as measurements from an ultrasound to come up with the chance that your baby has down syndrome, or some other genetic abnormality. the blood levels specifically are proteins that are found in the placenta and then the ultrasound is of the baby’s neck [that measures the thickness of the tissue], called a nuchal translucency test. the scores from each of these determine high risk versus low risk.
if that test is missed — because some people aren’t aware that they’re pregnant until later — there’s another test that uses blood levels, looking at particular proteins that are primarily concentrated in the placenta. one thing to be aware of with these is that it’s the risk of your baby having down syndrome — nothing is definitive.
there’s also confirmatory diagnostic testing while the baby’s still in the womb where a sample is taken directly from the placenta or from the amniotic fluid to examine the genetic material to see if they have that extra 21st chromosome or that extra genetic material that would correspond to someone with down syndrome.
what is the impact of down syndrome on a child’s development?
dr. m.: just like the neurotypical child, there are going to be huge variations. but you can be more certain that there will be developmental delay to some degree. the five developmental domains are gross motor, fine motor, language, social and cognitive. so for gross motor, people with down syndrome can be born with low muscle mass which makes it harder for them to do physically demanding tasks or even activities of daily living because balance and coordination are more challenging.
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fine motor tasks coordination is using your fingers and hands. fine motor can be highly reliant on vision, and we know that individuals with down syndrome have difficulty with depth perception and other visual challenges, which can make it harder for that hand-eye coordination. language and social go hand-in-hand. there’s a higher risk of having autism or autism-like traits that can impact their social and language function. and people with down syndrome often have smaller mouths, bigger tongues, that make it harder to speak and say words correctly and cognitively, with the intellectual impairment, it can be harder to formulate phrases.
then lastly, cognitive, which is mostly what people are aware of with individuals with down syndrome. reading, writing, math are often concepts that these individuals have kind of have a hard time grasping. getting connected to speech and language therapists, physiotherapy, occupational therapy — a multidisciplinary team can really help and the government can provide a lot of assistance financially.
there’s also the annual or periodic health visits with your doctor. we know that individuals with intellectual disabilities, their ability to interpret symptoms and to verbalize them and communicate them to caregivers and to health-care providers is quite diminished. so laboratory findings or physical exam findings can be a more reliable in this population.
are people with down syndrome at a higher risk for other health conditions?
dr. m.: they can be, for example, thyroid abnormalities is one to be aware of and something you’d want to get treated. another common one in the long-term is alzheimer’s disease. at 50 years of age, about 30 per cent of people with down syndrome have early signs of alzheimer’s. by 60 years of age, it’s 50 per cent. and we know that’s even more pronounced in men.
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but i’d say the greatest drug, if you would even classify it as that, is good lifestyle interventions, like making sure they get good sleep. there is a higher risk of them having sleep apnea. my brother had brutal sleep apnea. once we got him on a breathing machine, he was yawning less, he was cognitively more aware, he was better in all kinds of ways. and when luke has a sleepover with a bunch of friends with down syndrome, they all bring their machines. so it’s really about making sure they have good sleep, they’re eating well, they’re exercising.
how can parents best manage raising a child with down syndrome?
dr. m.: reaching out to communities, especially in city settings where there are communities of individuals and families that are ready to offer help and mentorship. a phone call to the canadian down syndrome society would provide a world of resources. special olympics, too, offers a lot of programs that help with parenting. in my family, i remember vividly there was a time we were tobogganing on a hill and there was another family with a younger boy with down syndrome, and they just came right over and started talking with my parents.
what’s changed over the years for people living with down syndrome and their caregivers?
dr. m.: if you look at the average life expectancy of someone with down syndrome in the 1960s, it was around 10 to 12 years of age, when people were brought to an institution and that’s where they’d spend their lives. now we’re at around 60 years of age, and the thought is that someone born with down syndrome right now would live close to a neurotypical life expectancy, like 80-plus. for parents and caregivers, you want to become acquainted with the health challenges that your loved one might face, the most common being alzheimer’s disease. and you need to think about having early plans in place if something were to happen to your health as a parent. where would this individual go? would they go to a sibling? would they go to a family member or a supported living environment? i think my main message is to plan for that.
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the other change in the past 60 years in this population is that we’re able to recognize and put in place early intervention. and now these individuals with down syndrome and other intellectual disabilities are doing really amazing things that we’ve never seen before. like the young man, chris nikic, who completed an ironman. that’s happening in smaller ways in communities around us. we have people with down syndrome in supported living away from home and holding down jobs. there are college and university programs that are especially tailored to these individuals. there’s a lot of really good things coming from a developmental standpoint that can allow these people to have very fulfilling lives.
what’s one piece of advice you would offer a parent of a child with down syndrome?
dr. m.: they have capability. we really do a disservice to their abilities by doing everything for them or not allowing them to try and fail and learn. because when you don’t allow them to do that, you’re kind of telling them that they can’t do that thing. whereas having them try and fail and learn from it is a way of helping them learn how to work through a challenge and how to persevere. and there’s a whole lot of other character traits that come from that that are very valuable, that are almost more valuable than the task itself. so give them the opportunities to try things.
for more information about down syndrome, visit the canadian down syndrome society.
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