The MDSC offers information and resources to help you provide the best care possible for your patients with Down syndrome or for your new or expectant families.
Delivering The Diagnosis
Recognizing the challenges healthcare providers face when delivering the diagnoses of Down syndrome, the MDSC can provide critical support. As a first step, we recommend the following resources:
- Please reference the “best practices” for health care professionals delivering a prenatal or postnatal diagnosis from the American Journal of Medical Genetics.
- The MDSC Parents First Call Program provides accurate, up-to-date information, and gives parents an opportunity to speak with a trained parent mentor. Our resources and connections are free and confidential. We also provide welcome packages for all new families, including books, resources and gifts for the baby.
- If you are a healthcare provider, you can connect a new or expectant family to the Parents First Call Program in one of the following ways:
- E-mail MSDC Family Support Director at email@example.com
- Call 800-664-MDSC (6372) any time
- Release Form (English) and Release Form (Spanish) for new families
- Prenatal Release Form (English) and Prenatal Release Form (Spanish) for expectant families
- You can also find information for new and expectant parents on our Information for Expectant Parents and Information for New Parents pages.
Caring for a Person with DS
The American Academy of Pediatrics has compiled a set of Down Syndrome Health Care Guidelines that help define standards of quality of care for individuals with Down syndrome. These guidelines provide comprehensive information about health concerns for people with Down syndrome at each stage of development, from birth through adulthood.
In addition to specific recommendations for screening tests, the guidelines include information about the kinds of medical conditions that individuals with Down syndrome are at risk for and suggestions for early intervention, diet and exercise, and other issues across the lifespan.
A copy of these guidelines are available on the website of our national partner, the National Down Syndrome Society. Go here for complete information.
For the most updated guidelines on caring for adults with Down syndrome please visit Global Down Syndrome Foundation.
It is helpful to refer patients to one of Massachusetts’ three Down syndrome clinics for specialized care. Our local Down syndrome clinics coordinate closely with the Primary Care Physician.
If you do not have a Down Syndrome Clinic in your area, consider encouraging the family to access the virtual Down Syndrome Clinic to You (DSC2U). For information on how DSC2U can support your care of the individual please read here.
As a health care professional, if you are interested in additional information about Down syndrome and related topics, you may request a Grand Rounds medical training at your hospital. We can connect you with one of the members of our Medical and Scientific Advisory Council.
Our National partners at the Lettercase National Center for Prenatal and Postnatal Resources, which is part of the University of Kentucky’s Human Development Institute, offer training modules on providing accurate, up-to-date, and balanced information following a diagnosis of Down syndrome.
You may also view this presentation by Dr. Brian Skotko, Director of the Masssachusetts General Hospital Down Syndrome Program titled Prenatal Diagnoses of Down Syndrome: Delivering Results in Our New Age of Genetic Testing for a review of advances in prenatal testing for Down syndrome and evidence-based research on how physicians can effectively deliver a prenatal and postnatal diagnosis of Down syndrome.
There is a Harvard Medical school on-line class titled Down Syndrome: Healthcare Updates for the Primary Care Pediatrician available for CME credit here.
The goal of this course if 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.
You may also be interested in viewing What the Other Children Without Down Syndrome Are Thinking: Sibling Issues for the Pediatrician.
In this one-hour presentation, physicians will explore what questions, needs, and concerns are often raised by their patients who have a brother or sister with Down syndrome. Physicians will come away with practical answers to commonly raised questions. This presentation draws upon Dr. Brian Skotko and Sue Levine’s publication in American Journal of Medical Genetics.
Thank you for taking time to research options that will help you provide individuals with Down syndrome and their families with the information, resources and support that they need.
For more information or to make a referral to the MDSC First Call program, please contact our MDSC Family Support Director, at firstname.lastname@example.org or by calling 781-221-0024, ext. 206.