No BS about DS

We saw Dr. Brian Skotko in November 2016 in the Down Syndrome Program at Massachusetts General Hospital at a well visit for my toddler. A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver a diagnosis of Down syndrome to new and expectant parents. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress, the Board of Directors for the Band of Angels Foundation, and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources.

Since he is an authority on the leading edge in Down syndrome research, I quizzed him during our appointment on a lot of topics that keep coming up in the DS parent community. I have been using that information in private conversations and forums to help other parents make scientifically informed decisions for their children with Down syndrome. When we started this blog, I reached out to Dr. Skotko for an email interview, and he agreed enthusiastically.

1. Tell us a little bit about your role as the medical director of the Down syndrome program at Massachusetts General Hospital, and in the larger Down syndrome community.

In my role as Co-Director of the Down Syndrome Program at Massachusetts General Hospital, I have the privilege of overseeing a very talented, multidisciplinary team of health care providers.  Together, we see about 500 patients with Down syndrome, of all ages, every year.  In a one-stop shop, we aim to provide a tune-up on medical care so that all people with Down syndrome can live healthy lives to the maximal potential.

2. Tell us a little bit about your experience of growing up with your sister who has Down syndrome.

My sister, Kristin, is 36 years old and has Down syndrome.  She certainly has been a life coach for me, teaching me important lessons about perseverance, determination, and gusto.  In many ways, Kristin keeps me focused on what matters most in this life journey.  She is immensely happy and leads a meaningful life.

3. How does your relationship with your sister inform and drive your interactions with patients who have Down syndrome and their families, as well as your research on Down syndrome?

Kristin certainly provided me with the original motivation to attend medical school and public policy school.  I knew from an early age that I wanted to be a physician for and with people with Down syndrome, and I am now grateful for this very role at Massachusetts General Hospital.  Her story—and those of thousands of families whom I have now met—inform and shape our research portfolio.  For example, my sister, like so many people with Down syndrome, struggle with wearing a mask at night for sleep apnea.  Our research team at MGH is now exploring ways to more easily diagnose and treat obstructive sleep apnea.  I also heard from so many families around the globe that they wish they had a Down syndrome specialist closer to their home.  We heard that, and our team is now working to build a virtual Down syndrome clinic.

4. The addition of an extra copy of the 21^st chromosome changes many aspects of development and bodily function. In your estimation, to what extent does the scientific and medical community understand the impact of the extra chromosome on the biochemistry of people with Down syndrome?

The scientific community is just beginning to unravel the importance of the genes on chromosome 21 and, more broadly, how these interact with genes located on all of the other chromosomes.  For an excellent review, I would recommend this paper.

5. What clinical data are you aware of indicating that altering the biochemistry of individuals with Down syndrome mitigates the risk/extent of intellectual disability, immune system dysfunction, or onset of Alzheimer’s?

Right now, there are no medications or therapies, available for clinical use, which have been shown to improve the intellectual disabilities associated with Down syndrome.  Similarly, there is no credible medications or therapies right now that can boost the immune system or delay the onset of Alzheimer’s disease in patients with Down syndrome.  However, there is a lot of research—some promising–in the works. I would recommend that interested parents consider reading this piece.

6. Some studies have found metabolic differences between children with Down syndrome versus their typical peers. Do you advise parents to act on this information, and if so, how?

There are 7 known genes on chromosome 21 that are associated with the metabolism of folate, homocysteine, and methionine (vitamins and amino acids in our body).  So, it is not surprising that some parents might believe that alterations in these substances might need to be corrected.  However, several large-scale studies have not demonstrated any significant improvement in cognitive development, language, coordination, and sociability when people with Down syndrome took folate or antioxidant supplements.  I would recommend that interested parents consider reading this paper (particularly Table 2).

7. We know from the research on childhood leukemia and anesthesia that people with Down syndrome can metabolize certain drugs differently than people with 46 chromosomes. How do you advise parents to incorporate this knowledge and awareness into the care of their children (e.g., other drugs, vitamin supplements)?

I recommend that parents review all medications and supplements with their child’s physician on a regular basis.  Your local pharmacist can also be helpful in identifying any possible drug-to-supplement interactions that might be dangerous for your child.  Since the long-term side effects of most supplements are unknown and not researched, I don’t recommend them for my patients.  And, when it comes to medications, I similarly try to find the smallest dose that is effective, used for the shortest period of time.

8. A common concern in the Down syndrome parent community is that acetaminophen (Tylenol) is unsafe for our children due to metabolic differences. Do you have a medical opinion on this?

Tylenol has been used safely in children with Down syndrome and is appropriate when symptoms such as pain or fever warrant its usage.

9. How do you advise parents of young children on the treatment of sub-clinical hypothyroidism?

While it is true that the active form of thyroid hormone is free T3, typically we trust our own bodies to tell us whether we have sufficient circulating free T3 or T3 at the tissue level by relying in the best measurement of T3 activity, which is the TSH.  Our ability to measure TSH directly, as a readout of the thyroid state of the person, is much more trustworthy than indirect measures of free T3 such as reverse T3. To this extent, the American Academy of Pediatrics recommends that all people with Down syndrome have their TSH level measured yearly.

If thyroid supplementation was indicated, parents should realize that the pill form of the hormone (levothyroxine) is chemically indistinguishable from the hormone we produce—that is, you are taking exactly the same molecule.  This is preferred to desiccated armour thyroxine, which may contain impurities and concentration/levels that may be less precise.

Over-replacement of thyroid hormone may cause cardiac or bone complications or insufficient weight gain.  To this extent, thyroid supplementation should only be initiated if necessary and under the guidance of a physician.

10. What are your thoughts of MTHFR gene mutation and its impact on people with Down syndrome? Can it need to be treated or mitigated with supplementation?

The American College of Medical Genetics and Genomics does not recommend testing for MTHFR mutations since changes in this gene are so very common in the population.  This gene plays a role in the activation of folate.  Several large-scale studies have not demonstrated any significant improvement in cognitive development, language, coordination, and sociability when people with Down syndrome took folate or antioxidant supplements.  I would recommend that interested parents consider reading this paper (particularly Table 2).

11. In your estimation, are most doctors behind on the latest research on Down syndrome?

One research study that my team and I conducted showed that only about 10% of patients with Down syndrome are up-to-date on even the most basic of healthcare guidelines, as recommended by the American Academy of Pediatrics.  I think this is because primary care physicians are so busy with so many patients nowadays that it is difficult to stay on top of all of the medical literatures, especially when you might only have one or two patients with Down syndrome in your practice.  Parents can access the guidelines directly online.  And, our research team at the Massachusetts General Hospital Down Syndrome Program is working to create a virtual clinic so that all patients with Down syndrome can have access to up-to-date, personalized healthcare information.

12. Parents in the Down syndrome community make the emotionally compelling argument that supplementation is needed now, because our children do not have the time to wait for scientific research to catch up with their livelihood. What is your response to this?

I understand that the desire for many parents to treat their sons and daughters with supplements comes from a position of love.  Mothers and fathers want the best for their children.  They want them to have every advantage to live a healthy and fulfilling life.  However, I would recommend that they carefully consider potential consequences for these supplements.  For example, consider all of the buzz in the early 2000s that antioxidants (like Vitamin E) once had.  They were originally touted as having the potential to decrease the risk of prostate cancer in the neurotypical population.  Many men jumped on the bandwagon and started taking Vitamin E supplements.  Then, a large-scale clinical trial demonstrated that the reverse was true—that is, excess Vitamin E, over the long-term might actually cause an increase in prostate cancer.  Even vitamins can cause harm when used in excess.

We have so little research on supplements in general, let alone in patients with Down syndrome.  The potential to do harm is as possible as the potential to do good.  I recommend that parents carefully consider these questions before investing their money in supplements.   And, here’s a guide to the known effects of herbs and supplements from the National Institute of Complementary and Integrative Health.  At the very minimum, parents should be transparent with their son’s/daughter’s pediatrician about any supplements that are being used, so that the physician can always consider potential medication-to-supplement interactions.

We would like to thank Dr. Skotko for taking the time to address the common concerns many parents have regarding the health of their children with Down syndrome. Stay tuned to this blog for plain language summaries of the research articles Dr. Skotko has shared with us in the interview.