Research Centers

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Down Syndrome Research Program

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

Photo of Drs. Allie Schwartz and Brian Skotko, co-directors of the Mass General Down Syndrome Program

Drs. Allie Schwartz and Brian Skotko, co-directors of the Mass General Down Syndrome Program

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.

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

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.

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.

Photo of the Mass General Down Syndrome Program group members.

Investigators

Brian Skotko, MD, MPP
Allie Schwartz, MD
Jose Florez, MD, PhD
Jessica McCannon MD

Statistician

Eric Macklin, PhD

Clinical Research Coordinator

Keity Cuello
kcuello@partners.org
617-643-5571

New Research Study Available for Children with Down Syndrome (ages 6-11)

We have been conducting clinical trials for people with Down syndrome, ages 12-30. The company sponsoring the study, Hoffmann-La Roche, is now interested in including children with Down syndrome, ages 6-11. For this particular project, no study drug will be offered to the children. Instead, we are simply looking to see how they perform on a range of neurocognitive tests so that the best tests are used in future trials that do involve the study drug.

For this study, children will simply complete a range of neurocognitive tests over 4 visits. Caregivers have the option of receiving a summary of assessments at the end of the study. Travel expenses, including airfare, hotel, and parking to MGH Down Syndrome Program will be covered.

There will be 42 children with Down syndrome who will take part in this study worldwide. MassGeneral Hospital has the ability to enroll up to 9 children, ages 6-11, in this study.

You and your child will be compensated up to $375 for your participation.

If you would like your family member to participate in this study, or if you have further questions, please contact:

Keity Cuello
Clinical Research Coordinator
MassGeneral Hospital Down Syndrome Program
617-643-5571
kcuello@partners.org

New Drug Trial Now Available For People with Down Syndrome (ages 12-30)

Currently, Dr. Skotko and his research team are conducting a protocol for a drug that might improve cognitive capacities in some people with Down syndrome. There will be 180 people with Down syndrome who will take part in this study worldwide. This study is being funded by F. Hoffman-LaRoche, the maker of the study drug. The clinical trial will evaluate the effects of the study drug on learning, memory, and language abilities in people with Down syndrome ages 12- 30 years. We are now enrolling interested participants. MassGeneral Hospital has the ability to enroll up to 20 subjects in this study. Currently there are spots available for ages 12-30. Parking will be validated. You will also be compensated up to $750 for your participation.

If you would like your family member to participate in this study, or if you have further questions, please contact: Keity Cuello, Clinical Research Coordinator in the MassGeneral Hospital Down Syndrome program at, 617-643-5571 or kcuello@partners.org.

For more information on this study, please contact:

Keity Cuello
Clinical Research Coordinator
kcuello@partners.org
(617) 643-5571

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.

Clinical Study of Tongue Pace Maker System (The Hypoglossal Nerve Stimulator) in children ages 12 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 investigating whether placement of a 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 criteria. 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 Program at 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)

Keity Cuello
Clinical Research Coordinator
MassGeneral Hospital Down Syndrome Program
617-643-5571
kcuello@partners.org

Ben Majewski Inspires Down Syndrome Clinics

Ben Majewski, Resource Specialist in the MassGeneral Hospital Down Syndrome Program, tells clinical leaders at a national conference that they should hire a person with Down syndrome.

Ben Majewski: Una vida intensa y plena

Profile of Ben Majewski, Self-Advocate Resource Specialist at the Mass General Down Syndrome Program, in the journal "Sindrome de Down: Vida Adulta," from the Fundación Iberoamericana Down 21 in Madrid, Spain. Article is in Spanish.

Loring School Little Buddy Challenge

SudburyPatch article includes mention of the Mass General Down Syndrome Program and Dr. Brian Skotko.

Down Syndrome: One Family's Decision

From WCVB-TV, Ch. 5, segment quotes MGHfC physician Brian Skotko, MD, MPP.

Will New Mass. Law Discourage Women from Aborting Fetuses with Down Syndrome?

From Time Magazine, article quotes MGHfC physician Brian Skotko, MD, MPP.

Interview: Dr. Brian Skotko

New numbers show about 4,700 babies are born each year with Down Syndrome. That's down according to Down Syndrome Education USA.

Doctors Finding it Easier to Diagnose Down Syndrome

Interview with Dr. Brian Skotko, co-director of the Mass General Down Syndrome Program on FOX25 News.

With Down syndrome diagnoses comes a wrenching choice

As prenatal tests proliferate and come earlier, more couples are arriving at a medical crossroads.

Life with Down syndrome is full of possibilities

The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago.

A Lifetime of Care at the Down Syndrome Program

After expanding its doors in July of 2012, the Down Syndrome Program has grown to include numerous age-appropriate clinics, experts from Mass General, MGHfC and the Mass Eye and Ear Infirmary, and multidisciplinary care along with state-of-the-art resources to provide seamless transition from pediatric to adult care.

Interview: Dr. Allie Schwartz

Dr. Schwartz talks about Down Syndrome with the hosts of Your Health® radio, a weekly one-hour radio talk show on patient health produced by the University of North Carolina Department of Family Medicine.

Down Syndrome Day: Ben Majewski Speaks at UN

Panel discussions on “Health and wellbeing – Access and equality for all” (on the occasion of World Down Syndrome Day).

Can Down Syndrome Be Treated?

Science Magazine article features Dr. Brian Skotko of the Mass General Down Syndrome Program.

IQ-Boosting Drugs Aim to Help Down Syndrome Kids Learn

Bloomberg article features Dr. Brian Skotko of the Mass General Down Syndrome program.

People With Intellectual Disabilities Get a Say in Drug Trials

Wall Street Journal article mentions Mass General Down Syndrome program.

Grand Rounds: Down Syndrome

MassGeneral Hospital for Children Grand Rounds are presented every Tuesday morning at 8:00 am in the O'Keeffe Auditorium.

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

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.

 

Down Syndrome Research Program

Phone: (617) 643-5571

Public Transportation Access: yes
Disabled Access: yes

Down Syndrome Research Program

Keity Cuello
Clinical Research Coordinator
kcuello@partners.org
(617) 643-5571

patient

Down Syndrome Clinical Program

Learn more about the Down Syndrome Program at Mass General, including prenatal services and clinics for infants and toddlers, school-aged children, adolescents and adults.

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Support the Down Syndrome Program

Gifts from individuals help to support the hospital's three-part mission of innovative research and education in addition to patient care that is second to none.

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Connect with the Down Syndrome Program

Connect with the Down Syndrome Program via Facebook and Twitter for updates on new programs, events, and more.