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Dr. Brian Skotko is an international expert on Down syndrome.
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MassGeneral Hospital for Children
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Brian Skotko, MD, MPP, a Board-certified medical geneticist, has dedicated his professional energies toward children with cognitive and developmental disabilities. In 2001 he co-authored two national award-winning books. He received the Christian Pueschel Memorial Research Award for his pioneering research and has been featured guest on multiple TV and radio news shows.
View my most recent research
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.
View my most recent publications at PubMed
Skotko, B. (2005). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics & Gynecology, 192: 67P77
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.
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.
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.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler T, Vellody K, Voelz L, Skotko B. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American Journal of Medical Genetics Part A, 173A:1539-1545.
Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. (2017). Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Medicine, 34:84-89.
A new study estimates, for the first time, both the numbers of children born annually with Down syndrome in nine U.S. states and the prevalence of Down syndrome in each of those states’ populations.
Shortly after birth in June 2016, Andie Anderson was diagnosed with Down syndrome. Since then, her mother, Emily, and the Down Syndrome Program at MGHfC have celebrated her life and milestones. As a veteran marathoner, Emily is running this year's Boston Marathon in honor of the Down Syndrome Program and all of the love, support and care they've given to Andie and her family.
Research at the MGH is interwoven throughout more than 30 departments, centers and units, and is conducted with the support and guidance of the MGH Research Institute. The Research Roundup is a monthly series highlighting studies, news and events.
A team led by a MassGeneral Hospital for Children physician has developed an assessment that may reduce the need for sleep studies in ruling out the presence of obstructive sleep apnea in people with Down syndrome.
The first study to analyze the out-of-pocket costs to families for the medical care of children and adolescents with Down syndrome finds that monthly costs – averaged over the first 18 years of life – are less than $100 a month more than the costs for care of a typically developing child.
A new study has estimated, for the first time, the numbers of people with Down syndrome in the U.S., from 1950 until 2010.
A multi-institutional research team has estimated for the first time the number of children born with Down syndrome each year in Massachusetts over the past century, along with the numbers of pregnancies of a child with Down syndrome lost to either termination or miscarriage.
Family members share feelings of love and pride, few report regret or embarrassment.
A study from a research team led by a MassGeneral Hospital for Children physician finds that, within most families, the experience of having a member with Down syndrome is generally a positive one.
Bloomberg article features Dr. Brian Skotko of the Mass General Down Syndrome program.
Science Magazine article features Dr. Brian Skotko of the Mass General 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.
As prenatal tests proliferate and come earlier, more couples are arriving at a medical crossroads.
The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago.
Interview with Dr. Brian Skotko, co-director of the Mass General Down Syndrome Program on FOX25 News.
New numbers show about 4,700 babies are born each year with Down Syndrome. That's down according to Down Syndrome Education USA.
SudburyPatch article includes mention of the Mass General Down Syndrome Program and Dr. Brian Skotko.
New Down syndrome program offers multiple clinics each week tailored to meet the unique medical and psychosocial needs of patients of all ages.
The MGH and MassGeneral Hospital for Children have launched one of the only comprehensive adult and pediatric Down syndrome programs in the nation.
From WCVB-TV, Ch. 5, segment quotes MGHfC physician Brian Skotko, MD, MPP.
From Time Magazine, article quotes MGHfC physician Brian Skotko, MD, MPP.
Hear how the Mass General Down Syndrome Program helped Karen Kelly and her sisters when unexpected medical complications and problems with guardianship arose.
Dr. Brian Skotko and members of the Mass General Down Syndrome Program talk to reporters from Japan about the impact of prenatal testing for Down syndrome here in the United States, just as Japan starts to make similar tests available to its people.
Grand Rounds presentation by Brian Skotko, MD, MPP, Co-Director of the Down Syndrome Program October 9th, 2012.
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