Down syndrome is a chromosomal condition that is found in 1 of every 700 babies born in the United States.(1) Down syndrome occurs as the result of either a partial or a completely whole extra copy of chromosome 21. Since its first acknowledgment in medical literature back in 1866,(1) there have been incredible advances in Down syndrome understanding and research. A new research center being developed at the Massachusetts Institute of Technology, thanks to a nearly $30 million dollar grant from the Alana Down Syndrome Center in Brazil, is expected to take this research even further by creating the opportunity for deeper study into the inner workings of Down syndrome, including the cells and circuits in the brains of people with Down syndrome.(2)
This center is expected to be one of the largest centers for Down syndrome research, leading to hope for more ways to improve and positively impact the lives of individuals with Down syndrome, as well as understand other disorders that have been found to connect with Down syndrome, such as Alzheimer’s disease.(2)
Understanding Down Syndrome
Down syndrome is the result of abnormal cell division that leads to changes on chromosome 21. There are actually 3 types of Down syndrome:
- Trisomy 21: This is the most common type of Down syndrome, resulting from a third copy of chromosome 21 (usually, there are 2; one from the mother, and one from the father). Trisomy 21 can result in distinct facial and body features, as well as specific health and cognitive problems that can range in severity from mild to severe.(3)
- Translocation Down Syndrome: This type of Down syndrome occurs when part of the extra chromosome 21 attaches itself to another chromosome, instead of being a separate chromosome.(3) This is a much less common form of Down syndrome, affecting 3-4% of babies, and is sometimes inherited from parents.(4)
- Mosaic Down Syndrome: In mosaic Down syndrome, only a certain amount of cells contain an extra copy of chromosome 21. As a result of this difference in mosaic Down syndrome, individuals may have milder features or they could still have the same features as those seen in Trisomy 21 — it varies from person to person.(4) Mosaic Down syndrome is considered to be the rarest form of Down syndrome.(3)
Like many neurobehavioral differences, Down syndrome is highly individual. Babies born with Down syndrome benefit from early intervention, supportive education, and strong medical care to support their development and to manage the higher risk of specific health problems, such as heart problems, sleep apnea, memory problems, and leukemia, that can come with a Down syndrome diagnosis.(3) However, people with Down syndrome are also at a lower risk of other diseases, including strokes, heart attacks, and solid tumors.(5)
The association of Down syndrome with certain diseases, both as a protective factor and a high-risk factor, is a growing area of research.
The Importance of Down Syndrome Research
As we’ve learned more about Down syndrome, we’ve managed to increase the life expectancy of someone born today with Down syndrome to more than 60 years.(3) We’ve also learned new therapies and services to benefit this population. However, there is still so much more about Down syndrome to uncover — particularly how, exactly, the chromosomal disorder causes the features and health problems of Down syndrome.
Understanding these mechanisms would lead to better treatment of health problems, and even better prevention of these problems altogether, further improving many lives. This understanding would also improve the ability of therapists and educators to teach individuals with Down syndrome, as it would be easier to understand how people with Down syndrome learn best.(5)
Individuals with Down syndrome can also teach medical professionals a great deal about other diseases as we grow to understand why someone with Down syndrome is more or less likely to get a specific disease.
Down Syndrome and Alzheimer’s Disease
One strong area of interest is the connection between Down syndrome and Alzheimer’s disease. Many people with Down syndrome eventually develop dementia in mid-life. Chromosome 21 carries a gene that can lead to a certain kind of plaque in the brain, and these plaques have been attributed to the onset of Alzheimer’s disease. As such, most people with Down syndrome have these plaques by age 40.(6) However, not everyone with these plaques gets Alzheimer’s, leading researchers to wonder why and how this knowledge could help treat, and potentially even prevent, Alzheimer’s disease. Studying people with Down syndrome could unlock keys to understanding this devastating condition that affects them — and so many others — in such huge numbers.
Neuroscience Close to Home In Maryland
Neurobehavioral Associates closely follows the news and research affecting you and your loved ones with neurobehavioral differences. Our team of experts regularly provide lectures and workshops on a number of topics to educate and inform. We offer resources for parents and a comprehensive assessment to equip you with the knowledge that you need to advocate for your child.
- What is Down Syndrome? | National Down Syndrome Society. (n.d.). Retrieved April 15, 2019, from https://www.ndss.org/about-down-syndrome/down-syndrome/
- With $29 Million In Backing, MIT Launches Down Syndrome Center. (2019, March 21). Retrieved April 15, 2019, from https://www.disabilityscoop.com/2019/03/21/with-29-million-mit-down-syndrome/26239/
- Down syndrome. (2018, March 08). Retrieved April 15, 2019, from https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
- Translocation Down Syndrome: Stanford Children’s. (n.d.). Retrieved April 15, 2019, from https://www.stanfordchildrens.org/en/topic/default?id=translocation-down-syndrome-90-P02153
- Why is Research for People with Down Syndrome Important? (2012, July 20). Retrieved April 15, 2019, from https://www.globaldownsyndrome.org/research-medical-care/why-is-research-important/
- Alzheimer’s Disease in People with Down Syndrome. (n.d.). Retrieved April 15, 2019, from https://www.nia.nih.gov/health/alzheimers-disease-people-down-syndrome