Photo of child

Down Syndrome Research program

We provide innovative opportunities for people with Down syndrome to participate in research.

Overview

We are a research team comprised of enthusiastic healthcare providers committed to innovation in Down syndrome research.  Our team is motivated to offer research opportunities that can help maximize the life potential for all people with Down syndrome. Working collaboratively with researchers around the globe, we are dedicated to advancing our shared understanding of biological processes associated with Down syndrome.  To this extent, we are proud to offer families a portfolio of research opportunities.

Mass General Down Syndrome Program Research Opportunities

To find out more about the research opportunities about Down syndrome available at MassGeneral Hospital, please click on the tab “Research Projects.”

National Down Syndrome Research Resources

To learn more about the latest national efforts related to Down syndrome research, our team recommends the following resources:

Clinical trials on Down syndrome 

There are many active clinical trials and research opportunities for people with Down syndrome in the United States. If you are interested in learning more about a particular study, contact the research team associated with that clinical trial.

Down Syndrome Education International 

Professor Sue Buckley of Down Syndrome Education International describes the history of research for individuals with Down syndrome.  She also highlights the importance of biomedical research in people within the Down syndrome community, providing context for the latest clinical trials.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 

NICHD is a part of the National Institutes of Health (NIH) and has a long-standing history of funding and supporting research to advance our understandings of Down syndrome.

Jerome Lejeune Foundation USA 

a national not-for-profit organization, funding research into innovative therapies for people with Down syndrome and other intellectual disabilities

Lumind Research Down Syndrome Foundation 

a national not-for-profit organization, is dedicated to finding treatments, which might improve the learning, memory, and speech for people with Down syndrome

Mission Statement

We are a collaborative, multidisciplinary team, serving people with Down syndrome of all ages and their families. We provide evidence-based clinical care, education, and cutting-edge research so that individuals with Down syndrome can reach their full potential.

Vision Statement

Our passion is to provide healthcare, research, and education that contribute to a world in which all people with Down syndrome are accepted, celebrated and have the opportunity to fully realize their potential.

Group Members

Research Projects

A patient of the Down Syndrome Program at MassGeneral Hospital for Children

Predicting Obstructive Sleep Apnea in People with Down Syndrome

This project seeks to develop a more efficient method of screening for obstructive sleep apnea (OSA) in individuals with Down syndrome. OSA is associated with a number of medical complications ranging from cognitive deficits to lung and heart disorders. Yet, while OSA is common among individuals with Down syndrome, the current method for diagnosing OSA—an overnight sleep study—can be uncomfortable, costly, and inconvenient for both patients and their families. Our research study will offer an opportunity to screen for OSA, while also helping us design a new tool that might help diagnose OSA in individuals with Down syndrome. For more information, please contact Dr. Skotko at (617) 726-1561 or bskotko@mgh.harvard.edu.

Research Study of Tongue Pace Maker System (The Hypoglossal Nerve Stimulator) in children ages 10 to 21 with Down Syndrome and Severe Obstructive Sleep Apnea

This research is being conducted at Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary by Drs. Hartnick, Diercks, Keamy, Kinane, Schwartz, and Skotko. As healthcare providers, we are interested in providing not only the best care for patients with Down syndrome but also in promoting research to understand and find better ways to treat their medical conditions. We are studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent sleep disordered breathing despite prior tonsillectomy. We will be researching whether placement of an investigational surgically implanted nerve stimulator, similar to a pacemaker, is safe and effective in relieving airway obstruction during sleep. This therapy has already been tested and approved for use in adults meeting specific requirements. The purpose of this notice is to inform you about the study. Participation is voluntary. Whether or not you decide to participate will have no effect on your relationship with Massachusetts Eye and Ear Infirmary and/or Massachusetts General Hospital as a patient. If you are interested in learning more about this study, and whether or not you/your child would be an appropriate candidate, please contact the research team by calling Dr. Hartnick at (617) 573-4206 or by email at Christopher_Hartnick@meei.harvard.edu.

Nutrition and Weight Management in People with Down Syndrome

Nutrition and weight management are health priorities for individuals with Down syndrome. However, quantitative data is not always available to detail the burden of poor nutrition, prevalence of overweight/obesity in the Down syndrome community or possible solutions to these problems. This poster shares novel data collected from the Massachusetts General Hospital Down Syndrome Program’s active patient pool of over 400 individuals with Down syndrome. It discusses:

  • The prevalence of overweight and obesity among children and adults seen in our program, including a comparison to statistics for the general population and other individuals with intellectual or developmental disabilities.
  • The natural BMI trend of a sample of our patients over a 6-month period.
  • The results of surveys completed by patients on their self-identified nutrition challenges, as well as their use of mobile technology.

You can access our research poster here.

Clinical Drug Trial for People with Down Syndrome Is a Success

The results are now in: the Phase 2 clinical drug trial, sponsored by Transition Therapeutics, was a success!; As many of you know, our Down Syndrome Programat Massachusetts General Hospital was one of 3 sites in the country selected to participate in this landmark study. We are thankful to the 6 adults with Down syndrome, and their caregivers, who participated at our clinic. Read a summary of the study,and learn what this might mean for your son or daughter with Down syndrome in the future.

Down Syndrome Patient Database

All current patients in the Down Syndrome Program at Massachusetts General Hospital are invited to participate in a research project to build a national registry to track the health and medical history of people with Down syndrome across their lives. Health information will be collected from existing and future medical records, so there are no extra study visits or procedures. This Down Syndrome Patient Registry is taking place at Massachusetts General Hospital, as well as other centers specializing in Down syndrome clinical care and research.

Registry Consent Form(pdf)

Alexandra Barrasso
Clinical Research Coordinator
MassGeneral Hospital Down Syndrome Program
617-643-5571
abarrasso@partners.org

Publications

Photo of a patient of the Mass General Down Syndrome Program.

Jacobs, J., Schwartz, A., McDougle, C., Skotko, B.G. (2016). Rapid Clinical Deterioration in an Individual with Down Syndrome. American Journal of Medical Genetics Part A.  Article.

Diercks, G.R., Keamy D., Kinane, T.B., Skotko, B., Schwartz, A., Grealish, E., Dobrowski, J., Soose, R., Hartnick, C. (2016). Hypoglossal Nerve Stimulator Implantation in an Adolescent with Down Sydnrome and Sleep Apnea. Pediatrics 137(5):e20153663.  Article.  Press release.

de Graaf, G., Buckley, F., Skotko, B.G. (2016).  Live births, natural losses, and elective terminations with Down syndrome in Massachusetts.  Genetics in Medicine.  Article.

Skotko, B.G., Levine, S.P., Macklin, E.A., Goldstein, R.D. (2015). Family perspectives about Down syndrome. American Journal of Medical Genetics Part A 9999A:1–12.  Article.  Press release.

de Graaf, G., Buckley, F., Skotko, B.G. (2015).  Estimates of the live births, natural losses and elective terminations with down syndrome in the United States. American Journal of Medical Genetics, Part A 167A:756–767.  Article.  Supplementary Materials.

Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., Schwartz, A. (2015).  Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan.  American Journal of Medical Genetics, Part C 169C:135-149.  Article.

Lavigne, J., Sharr, C., Ozonoff, A., Prock, L.A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J.C., Kishnani, P., Lombardo, A., Lyerly, J., McCannon, J.B., McDonough, M.E., Schwartz, A., Berrier, K.L., Sparks, S., Stock-Guild, K., Toler, T.L., Vellody, K., Voelz, L., Skotko, B.G. (2015). National Down syndrome patient database: Insights from the development of a multi-center registry study. American Journal of Medical Genetics Part A 167A:2520–2526. Article.

Skotko, B.G., Davidson, E.J., Weintraub, G.S. (2013).  Contributions of a specialty clinic for children and adolescents with Down syndrome.  American Journal of Medical Genetics, Part A 9999:1-8. Article (pdf).

White, Melissa (2013). Providing Breastfeeding Support in the Hospital Setting for Mothers Who Have Infants With Down Syndrome. ICAN: Infant, Child, & Adolescent Nutrition.Article.

Leach, M., Skotko, B.G. (2012). Resources available for informed prenatal decisions. (Letter to the Editor). Genetics in Medicine: 14:348-349. Letter to the Editor (pdf).

Schwartz, A. (2012)  The ins & outs of transition planning.  (Article) (pdf)

Skotko, B.G., Leach, M. (2011).  Physicians need to offer up-to-date information about Down syndrome to expectant couples to inform decision-making [E-letter]. Pediatrics. October 17, 2011. Letter to the Editor.

Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers.  American Journal of Medical Genetics Part A 155:2335-2347.  Article (pdf). Press release.

Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a Brother or Sister with Down Syndrome:  Perspectives from Siblings.  American Journal of Medical Genetics Part A: 155:2348-2359.  Article (pdf). Press release.

Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Self-perceptions from People with Down Syndrome.  American Journal of Medical Genetics, Part A: 155:2360-2369.  Article (pdf). Press release.

Rosen, D., Lombardo A., Skotko, B., Davidson, E.J. (2011).  Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome.  Clinical Pediatrics, 50:121-125.  Article (pdf).

Skotko, B., Kishnani, P., & Capone, G. for the Down Syndrome Diagnosis Study Group (2009).  Prenatal diagnosis of Down syndrome:  How best to deliver the news.  American Journal of Medical Genetics, Part A, 149A: 2361-2367. Article (pdf).Press release (pdf). Summary in Spanish.

Skotko, B., Capone, G., & Kishnani, P. for the Down Syndrome Diagnosis Study Group (2009).  Postnatal diagnosis of Down syndrome: Synthesis of the evidence on how best to deliver the news.  Pediatrics,124: e751-e758.  Article (pdf). Press release (pdf). Summary in Spanish.

Skotko, B. (2009).  With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94: 823-826.  Article (pdf). Press release with video.

Skotko, B. (2009).  "Driving Forward."  In Thicker than Water: Essays by Adult Siblings of People with Disabilities. Ed. Don Meyer.  Bethesda, MD: Woodbine House.

Skotko, B. & Levine S. P. (2009). Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters.  Bethesda, MD: Woodbine House.

Florez, J. (2007). Knowledge is power. (Article).Journal of the American Medical Association, Vol 298, No.13

Skotko, B. (2007).  Letter to the editor: First- and second-trimester evaluation of risk for Down syndrome.  Obstetrics and Gynecology, 110: 1426. Article.(pdf)

Skotko, B. (2006).  Letter to the editor: A surprising postnatal diagnosis.  Obstetrics and Gynecology, 108: 1297. Article (pdf).

Skotko, B., & Levine, P. (2006).  What the other children are thinking: Brothers and sisters of persons with Down syndrome.  American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 142C:180-6. Article,(pdf)Press release (pdf).

Skotko, B.  (2006).  Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome.  American Journal of Obstetrics and Gynecology. 195:625-26. Article (pdf).

Skotko, B. (2006).  Letter to the editor: Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers.  Obstetrics & Gynecology. 107:1170. Article (pdf).

Skotko, B., Canal, R. (2006). Continuing a Pregnancy After Receiving a Prenatal Diagnosis of Down Syndrome in Spain. Progresos en Diagnostico y Tratamiento Prenatal. 17: 189-92. Article,(pdf)English version (pdf). Survey.(pdf)

Skotko, B. (2005). Mothers of children with Down syndrome reflect on their postnatal support.Pediatrics. 115: 64-77. Article,(pdf)Summary,(pdf)Press Release,(pdf)Survey.(pdf)

Skotko, B. (2005). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics & Gynecology,192: 670-77. Article,(pdf)Summary,(pdf)Press Release,(pdf)Survey .(pdf)

Skotko, B., & Canal, R. (2005). Postnatal support for mothers of children with Down syndrome.Mental Retardation, 43: 196-212. Article (pdf). Survey.(pdf)

Skotko, B. (2005). Communicating the postnatal diagnosis of Down syndrome: An international call for change. Italian Journal of Pediatrics, 31: 237-243. ArticlePress Release (pdf).

Skotko, B., & Canal, R. (2004). Apoyo postnatal para madres de niños con síndrome de Down.Revista Síndrome de Down, 21: 54-71. Article (pdf).

Skotko, B. & Kidder C. (2001). Common Threads: Celebrating Life with Down Syndrome.Rochester Hills: Band of Angels Press.

 

Contact

Contact Us

Down Syndrome Research Program

  • Phone: (617) 643-5571

Alexandra Barrasso
Clinical Research Coordinator
abarrasso@partners.org
(617) 643-5571

Back to Top