Stephanie L. Santoro, M.D.

Physician Investigator (Cl)
Genetics Program, Mass General Research Institute
Assistant Professor of Pediatrics
Harvard Medical School
Assistant In Pediatrics
Pediatrics-Genetics, Massachusetts General Hospital
Director of Quality Improvement Research, Down Syndrome Program
Pediatric Medical Genetics and Metabolism, Massachusetts General Hospital
MD University of Cincinnati College of Medicine 2009
clinical care; clinical competence; clinical quality improvement; down syndrome; medical policy; outcomes improvement Dr. Santoro's research focuses on Down syndrome, health and improving outcomes. She was a co-author of he 2022 American Academy of Pediatrics (AAP) has published detailed medical guidelines for patients with Down syndrome called Health Supervision for Children and Adolescents with Down Syndrome.  Her early research unearthed that various recommendations within these guidelines are often not followed and studied interventions to improve outcomes.  As PI on these projects, Dr. Santoro planned, executed, and published peer-reviewed papers in this area in collaboration with mentors and other team members in other hospital systems and in parent support groups, demonstrating my leadership skills in productive and cooperative academic research. 

The Santoro Lab

(1) Measuring health in Down syndrome: As a result of this preliminary work, Dr. Santoro became focused on the measurement of the health of individuals with Down syndrome.  She is a K23-awardee and PI on an NIH-funded grant (
K23HD100568) to create, develop, and validate a parent-report instrument to measure health of individuals with Down syndrome age 0-21 years. As such, the Santoro lab focuses on surveys, instruments, and the measurement of health in Down syndrome. Future work is planned to then intervene to improve health, to bring patient voice to assessment of health by developing a patient-reported outcome to be completed by adolescents and young adults with Down syndrome, and assess how to capture health views directly for future research.

(2) Improving health care and outcomes in Down syndrome: Dr. Santoro has studied approaches, including physician education and EHR-integrations, to improve the quality of healthcare delivered to individuals with Down syndrome through improved adherence to published guidelines. In the MGH Down Syndrome Program, she participates in clinical trials and innovative research to improve access to care.  Dr. Santoro is the Director of Quality Improvement Research in the MGH Down Syndrome Program and leads quality improvement projects focused on clinic protocols, clinic procedures, and inter-clinic communication. Her overall goal is to conduct clinical research which translates back to provide evidence to improve the quality of care delivered to patients with Down syndrome.

Down Syndrome Regression Disorder

Dr. Santoro has studied specific comorbidities associated with Down syndrome, collaborating with physician-scientists across disciplines.  One comorbidity is an entity of regression in Down syndrome, which she led an international group of researchers in publishing our case-control experience describing the clinical features of this entity. 

  1.     Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.  (2020).  Genetics in Medicine, 22(4):767-776. PMID: 31767984
  2.     Rosso M, Fremion E, Santoro SL, Oreskovic NM, Chitnis T, Skotko BG, Santoro JD. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics2020 Jun;145(6)doi: 10.1542/peds.2019-2939. Review. PubMed PMID: 32471843.
  3.      Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Down Syndrome Regression Disorder:  management of 51 patients in an International Down Syndrome Patient Database. Am J Med Genet A(2022). PubMed PMID: 35924793

Complete List of Dr. Santoro's Published Work in MyBibliography: