Down Syndrome Understood as an Immune Disorder

By AASLApril 15, 2018

Yes, you read that correctly: recent research has looked further at Down Syndrome as an immune disorder. This discovery, by the Linda Crnic Institute for Down Syndrome at the University of Colorado medical campus, is groundbreaking because it provides changes in the direction of future Trisomy 21 and Down Syndrome research. It also increases the likelihood that the medical community can develop effective therapies.

So, how exactly did scientists find the connection that DS is consistent with an immune disorder?

The Discovery – Immune System On Hyper Drive

Trisomy 21, or having an extra copy of chromosome 21, is the known cause of Down Syndrome. Recent research identified that the interferon response (an immune system response which is supposed to activate to target only viruses and bacteria when a threat is present) functions on hyper-drive in those with Down Syndrome.

In people with DS, the interferon response is always on and is always attacking things that aren’t there. Researchers discovered this after looking at more than 3,500 proteins in plasma samples of participants. They found that 200-300 of those are statistically different in individuals with DS.

Of those proteins, half are involved in immune control and consistently effected by Trisomy 21. This led to the discovery that a branch of the immune system is hyperactive in individuals with Down Syndrome.

Putting It Into Perspective

The idea of a hyperactive immune response in individuals with DS is consistent, given what’s already known about Down Syndrome. It has previously been known that individuals with Trisomy 21 are more prone to develop autoimmune conditions such as alopecia and celiac disease, and Alzheimer’s (correlated with inflammation caused by the overactive immune response).

Conversely, individuals with Down Syndrome are less likely to develop cancerous tumors, because an over-active immune system would prevent tumors from growing. Overall, a major result from this study is that auto-inflammation is a key occurrence across the lifespan of those who have Down Syndrome.

Future Plans

This research justifies a deeper look into immune system regulation strategies to help individuals with Down Syndrome. The research community is investigating pharmaceutical drugs for autoimmune diseases and should consider their possible impact on individuals with Down Syndrome.

The end goal would be to start a clinical trial on these types of medications, but the timeline for that is uncertain. Individuals with Down Syndrome are perfect the way they are, no doubt! If research and medical advances can one day make auto-immune conditions less likely, resulting in an even better quality of life, that is surely exciting news!


DISCLAIMER: Information published about one particular disorder does not necessarily apply to every individual who has the disorder discussed in this article. Treatments and therapies are highly individual and must be customized to the needs of each person to be effective. Do not make changes to your/your child’s treatment plan as a result of what you read in this article (or any content published by AASL) without consulting your/your child’s physicians and therapists. This content does not necessarily reflect the opinions of All About Speech & Language or its therapists. To understand the opinions and recommendations of your/your child’s AASL therapist, schedule an appointment with your therapist to discuss your concerns.


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