New Discoveries About Down Syndrome May Open Up Treatment Options
New information about the brains of people with Down syndrome could lead to drug therapies for those who want them.
As a parent of a 10-year old with Down syndrome, I don't know how to respond to news of new research related to the brain function of people with Penny's condition. Penny and many of the other people I know with Down syndrome lead happy, fulfilling lives. Penny is not suffering, nor are the majority of children with Down syndrome I know. Nevertheless, research continues on how the presence of a third 21st chromosome affects the bodies, brains, and behaviors of people with Down syndrome. That research could lead to drug interventions to improve cognition, which could potentially better the lives of some individuals with Down syndrome.
Recently, Dr. Tarik Haydar of the Boston University School of Medicine and Dr. Nenad Sestan of the Yale School of Medicine published a paper explaining the results of their groundbreaking research into the way Down syndrome affects the brains of children and adults. Dr. Haydar explained by phone that they took 15 brains from deceased patients with Down syndrome, ranging from the littlest babies and toddlers to adolescents and adults. They also found comparable brains from among the typical population. Then they isolated a few areas of these brains and compared the two groups.
The researchers discovered a few things. One, trisomy 21 affects "oligodendyte differentiation" and "myelination." I had to look those words up in order to understand them, and I put myself through a little neurology crash course. Here goes: The brain consists of neurons. Neurons are connected to one another through axons. Axons are protected by something called a "myelin sheath." So, envision the cord that connects your desk lamp to the outlet in the wall. Inside the plastic covering is the actual wire that transmits electricity from wall to light bulb. Outside is the protective covering. It's kind of like that in our brains, where the neurons communicate with one another and with the central nervous system, and the myelin protects them. Haydar and Sestan demonstrated that the presence of that additional 21st chromosome reduces the production of the protective myelin.
Two, the differences between a brain with Down syndrome and a typical brain do not only occur prenatally but throughout life. According to Dr. Haydar, this research demonstrates "different windows of opportunity for intervention" for people with Down syndrome at prenatal, toddler, or even the teenage stage of development. Moreover, researchers working on diseases like multiple sclerosis are developing medications that focuses on myelination, some of which are already in clinical trials. In other words, these drugs meant to increase the production of myelin may be available in a relatively short amount of time.
If and when these drug interventions become available, parents and individuals with Down syndrome have another set of questions to answer. As Dr. Haydar himself reflected, "Plenty of families will say, 'Why would I want to change my child?' But there are some children with Down syndrome who suffer more. I want to develop something that provides families and people with Down syndrome with a decision about whether they want to improve cognition. I just want to provide an option."
Haydar and Sestan have demonstrated with greater clarity than ever before the way in which Down syndrome affects the brains of those with the condition. For some people with Down syndrome, it could lead to interventions that make a measurable positive difference in their lives.
Amy Julia is the mom of three kids who love broccoli and hot dogs, and who ask for lollipops every day! Her guilty pleasures are chardonnay and Diet Coke. She is also the author of Small Talk: Learning from my Children about What Matters Most and A Good and Perfect Gift: Faith, Expectations, and a Little Girl Named Penny. Visit her at amyjuliabecker.com.