The Down Syndrome Program at Massachusetts General Hospital and MGfC remains one of the largest of its kind in the world, offering "one-stop" state-of-the-art care for people with Down syndrome. The multidisciplinary team is now expanding and is delighted to announce these new clinicians.
Stephanie Santoro, MD
Stephanie Santoro, MD
Director of Quality Improvement Research, Down Syndrome Program
Departments, Centers, & Programs:
Mass General for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Boston, MA 02114
- MD, University of Cincinnati College of Medicine
- Residency, Cincinnati Children's Hospital
American Board Certifications
- Clinical Genetics and Genomics, American Board of Medical Genetics
- Pediatrics, American Board of Pediatrics
Accepted Insurance Plans
Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.
My research interest include: Down syndrome, health and improving outcomes. I am particularly interested in approaches to improve the quality of healthcare delivered to individuals with Down syndrome through adherence to published guidelines and clinic modeling. At the MGH Down Syndrome Program, I am also involved in clinical trials and innovative research to improve access to care. My particular interest is to conduct clinical research which translates back to provide evidence to improve the quality of care I deliver to my patients with genetic syndromes.
- Santoro SL, Bartman T, Cua CL, Lemle S, Skotko BG. Use of Electronic Health Record Integration for Down Syndrome Guidelines. Pediatrics. 2018;142(3):e20174119. doi:10.1542/peds.2017-4119
- Capone GT, Chicoine B, Bulova P, et al. Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. American journal of medical genetics Part A. 2018;176(1):116-133.
- Santoro S, Jacobson, T., Lemle, S., Bartman, T. Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling. Pediatric Quality & Safety. 2017;2(5).
- Santoro SL, Yin H, Hopkin RJ. Adherence to Symptom-Based Care Guidelines for Down Syndrome. Clinical pediatrics. 2016.
- Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ. Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome. The Journal of pediatrics. 2016.
- Santoro SL, Esbensen AJ, Hopkin RJ, Hendershot L, Hickey F, Patterson B. Contributions to Racial Disparity in Mortality among Children with Down Syndrome. The Journal of pediatrics. 2016.
- Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM. Retrospective Study of Obesity in Children with Down Syndrome. The Journal of pediatrics. 2016.
- Santoro SL, Martin LJ, Hopkin RJ. Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences. Clinical pediatrics. 2015.