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Down Syndrome: Healthcare Updates for the Primary Care Pediatrician

Course Description | Faculty | Accreditation | General Information

Course Description

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation.

Down syndrome is the most common chromosomal condition in humans, but do you know the latest evidence-based medicine on how to best manage these patients? Much has changed since medical school. Many healthcare guidelines and emerging literature are changing the way that individuals with Down syndrome are diagnosed, followed, and managed. Astute physicians can now detect associated conditions before they become symptomatic in an effort to maximize health care development. The goal of this online activity is to review the latest advances in healthcare management of children with Down syndrome so that primary care pediatricians and other interested health care professionals can provide exceptional care.

Original Release: 5/5/2010
Most Recent Update: 11/6/2013
Termination Date: 11/6/2016

NUMBER OF CREDIT HOURS: The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

COST: COST: $25.00


  1. Recognize medical conditions associated with Down syndrome (DS).
  2. Become knowledgeable of healthcare guidelines for Down syndrome.
  3. Explain treatment options for DS-associated medical conditions.
  4. Anticipate questions commonly asked by parents.


Registrants participate in the learning process by answering interactive multiple choice questions that are dispersed throughout the case presentation. You must answer a question correctly in order to continue through the course. If you answer a question incorrectly, you will be prompted to try again.

In order to earn credit, physicians must complete the entire educational activity before the termination date (see above). Non-physicians may register for the course but are not eligible for AMA PRA Category 1 Credits™. Instead, non-physicians will earn a certificate of participation after successfully completing the course before its termination date.


This internet enduring material is a case-based, interactive presentation comprised mainly of text, interactive questions, and images. A variety of media, including video clips, audio clips, and Flash animation, may be presented. Links to any necessary plugins are provided when necessary, but no plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.

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Course Director
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.

Reported no relevant financial relationships with commercial entities.

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Jose C. Florez, M.D., Ph.D. is an Assistant in Medicine (Endocrine Division) at the Massachusetts General Hospital, an Associate Professor at Harvard Medical School, and an Associate Member at the Broad Institute, where he is active in the Program in Medical and Population Genetics and the Broad Metabolism Initiative. He and his group have contributed to the performance and analysis of genome-wide association studies in type 2 diabetes and related traits, in the Diabetes Genetics Initiative (formed by the Broad Institute, Lund University and Novartis), the Framingham Heart Study, and other international consortia such as MAGIC, GENIE and DIAGRAM. He leads the genetic research efforts of the Diabetes Prevention Program, where the effects of genetic variants on the development of diabetes can be examined prospectively, and their impact on specific behavioral and pharmacological preventive interventions can be assessed. He is the Principal Investigator of the Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR MGH), and also conducts other pharmacogenetic studies at MGH. He is an author on 70+ original publications and 30+ reviews/book chapters. In addition to his research and teaching duties, he directs the MGH Down Syndrome Clinic for Adults and Adolescents, and is clinically active in the MGH Diabetes Center and in the Endocrine inpatient consult service. He serves on the Editorial Boards for Diabetes and for Human Genetics, as well as the Advisory Board for Diabetologia; he is also the Editor-in-Chief for Current Diabetes Reports. He is the recipient of the MGH Physician Scientist Development Award, a Doris Duke Charitable Foundation Clinical Scientist Development Award, the MGH Department of Medicine Stephen Krane Award, and the 2010 Presidential Early Career Award for Scientists and Engineers, the highest honor bestowed by the United States government on science and engineering professionals in the early stages of their independent research careers.

Reported no relevant financial relationships with commercial entities.

Dr. Irons is the Associate Chief of the Division of Genetics and the Chief of Clinical Programs in the Division of Genetics at Children’s Hospital Boston. Dr. Irons has a busy clinical practice herself and is the Director of the Neurofibromatosis Program and also sees patients in her general Genetics clinic, both at the Longwood campus and at the South Shore satellite office. Dr. Irons is also an ambulatory service team chief in the Department of Medicine at CHB, and is a member of numerous hospital committees. She has also recently assumed the role of Director of Internal Reviews for the Children’s Hospital GME (Graduate Medical Education) Committee and is a member of the GME Executive Committee of the hospital. Dr. Irons is an Associate Professor of Pediatrics at Harvard Medical School, and is also the director of the ACGME-accredited Genetics Residency Program and the Harvard Medical School Genetics Fellowship training programs, two of the largest genetics training programs in the United States. These programs provide residency training for medical genetics, as well as postgraduate training in the laboratory specialties of clinical cytogenetics, molecular genetics, and biochemical genetics.

Reported no relevant financial relationships with commercial entities.

David T. Miller, MD, PhD is a medical geneticist and clinical molecular geneticist at Children's Hospital Boston, and an Instructor of Pediatrics at Harvard Medical School. He received his MD and PhD degrees from Washington University in St. Louis. He completed a residency in Pediatrics at Yale-New Haven Hospital, and residency/fellowship in medical genetics at Harvard Medical School. He is board-certified in Pediatrics, Clinical Genetics, and Clinical Molecular Genetics. His clinical, research, and teaching activities are focused on improving patient care through genetic testing to facilitate better understanding of the molecular causes of genetic syndromes. His areas of interest include: children with developmental disabilities, especially autism spectrum disorders; neurofibromatosis; and progeroid laminopathies.

Reported no relevant relationships with commercial entities.

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Course Planners
Dr. Sanjiv Chopra is Professor of Medicine at Harvard Medical School. He is also the the James Tullis Firm Chief in the Department of Medicine and a Senior Consultant in Hepatology at the Beth Israel Deaconess Medical Center, Boston. He served as Faculty Dean for Continuing Education at HMS for 12 years. Dr. Chopra has more than 150 publications and seven books to his credit. Dr. Chopra is Editor-in-Chief of the Hepatology Section of UpToDate, the most widely used electronic textbook in the world subscribed to by more than 850,000 physicians in 149 countries. He is also the recipient of numerous awards and accolades. For a complete bio, click here.

Reported no relevant financial relationships with commercial entities.

Erin K. Harvey, MSc, CGC, was the Assistant Director of Education for Partners Healthcare Center for Personalized Genetic Medicine (PCPGM) from 2008 to 2011. She is a board-certified genetic counselor and has worked with a wide range of primary healthcare professionals in the development of genetics-related, case-based continuing medical education (CME). In addition to being the series editor for PCPGM’s genetics CMEs, she coordinated an advanced human genetics course for Harvard Medical School’s Clinical Genetics Residency training program. In 2011, she accepted a position with Genzyme as a Scientific Communications Principal for the Personalized Genetic Health division. Prior to joining PCPGM, Ms. Harvey spent five years with the National Coalition for Health Professional Education in Genetics, and was seconded for one year to the United Kingdom to help a similar organization there – the National Genetics Education and Development Centre – create genetics resources for the UK’s nationalized medical education curriculum. Ms. Harvey received her master’s degree in science in 2003 from the Johns Hopkins University/National Institutes of Health joint genetic counseling training program. She received a B.A. in English Writing from St. Edward’s University in Austin, Texas in 1993, and worked as a journalist prior to pursuing a career in the biological sciences.

Reported no relevant financial relationships with commercial entities.

Andi Long directs the Department of Continuing Education’s Distance Learning group, which offers a variety of online continuing medical education programs to health care professionals around the world. Andi develops strategies for new pilot programs and systematically rolls out new distance learning initiatives and has a leadership role in IT planning and other online processes for HMS DCE. She oversees the day-to-day operations of each distance learning activity and ensures ACCME compliance across all enduring programs. She has had the privilege of working with hundreds of Harvard Medical School Faculty members to develop high-quality, engaging online programs that physicians in more than 170 countries have taken part in. Andi earned her Ed.M. in Technology, Innovation, and Education from Harvard Graduate School of Education and graduated from Bridgewater State College with a degree in English. Her professional interests focus on teaching and learning with new technologies and online course development.

Reported no relevant financial relationships with commercial entities.

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The Harvard Medical School is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

Within 2 weeks of completing the course, you will receive your certificate via email.

Click the image to view a sample of the certificate

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General Information


Any computer running Windows, Mac OS, or Unix machines are supported.

Internet Connection
Your computer should be configured to access the Internet. A high speed internet connection may be required to view some of the large multimedia files.

Firefox or Internet Explorer 5.5 or higher are recommended. JavaScript and cookies must be enabled.

Some of the multimedia resources in this course require Apple Quicktime, RealMedia, or a Flash player. You will be prompted to download the appropriate plugin when necessary. No plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.


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