Research Overview

My overall research goals are to better understand neurobiological mechanisms of social, communication, and behavioral challenges in Down syndrome, to improve diagnosis and characterization of neurodevelopmental profiles, and to explore educational strategies and behavioral and medical interventions for individuals with Down syndrome.

I have a broad background in clinical and educational research. At the Harvard Graduate School of Education, I studied special education theory and policy, as well as educational research methods. My research involves characterization of medical, developmental, and behavioral profiles of children with Down syndrome, and understanding neurological differences in children with and without comorbid neurodevelopmental disorders, such as autism spectrum disorder. I also study educational, behavioral, and medical interventions to improve cognition and developmental outcomes. 

The Boston Children's Hospital Down Syndrome Program research team works hand in hand with our clinical care team in our mission to help all individuals with Down syndrome reach their fullest potential. Our studies aim to shed light on brain and behavior development in individuals with Down syndrome by looking at genetics, neural pathways, and biomarkers that may help predict outcomes. In particular, we focus on cognition, learning and memory, as well as neurodevelopmental and behavioral challenges that commonly co-occur in individuals with Down syndrome. We are also committed to developing and studying valid and reliable diagnostic tools, and research aimed at exploring new educational, behavioral, and medical interventions which may improve overall functioning. Through our multi-center and multidisciplinary efforts, we also aim to understand the developmental trajectory and impact of medical issues in individuals with Down syndrome, and to explore potential interventions that may improve physical and mental health, and neurodevelopment. 

Learn more about the Down Syndrome Program at Boston Children's Hospital.

About the Researcher

Dr. Nicole Baumer is a neurodevelopmental disabilities (NDD) pediatrician / child neurologist at Boston Children's Hospital and an instructor at Harvard Medical School.  Dr. Baumer completed her undergraduate studies in biology and psychology at Skidmore College. She received her Medical Degree cum laude from Harvard Medical School. She trained in pediatrics at Massachusetts General Hospital, and completed a fellowship in Neurodevelopmental Disabilities at Boston Children's Hospital. Dr. Baumer also has a Master's degree in education from Harvard Graduate School of Education. She was a fellow in the Leadership Education in Neurodevelopmental and Related Disorders (LEND) program at BCH/Harvard Medical School.  In January 2015, Dr. Baumer became Co-Director of the Down Syndrome Program at Boston Children's, where she has been seeing patients since 2011.  Dr. Baumer has training in both child neurology and developmental and behavioral pediatrics and is board certified in child neurology and pediatrics.  Dr. Baumer has an older sister with Down syndrome.  

Dr. Baumer sees patients in the Neurology Department and in the Developmental Medicine Center at Boston Children's Hospital.  She specializes in the treatment of individuals with Down syndrome, intellectual disability, autism, and neurobehavioral disorders.  

Clinical Trials

Our program will be involved in upcoming clinical drug trials to investigate safety and effectiveness of new drugs that may improve cognition in individuals with Down syndrome:

  • Neurobehavioral Phenotype study: This is a chart review of medical, neurodevelopmental, and behavioral profiles of children with Down syndrome (DS) who have received neuropsychological testing at Boston Children's Hospital: this investigation is aimed at identifying patterns and factors associated with comorbid medical, neurodevelopmental and behavioral conditions diagnosed in children with Down syndrome.  Thus far, we have discovered factors that contribute to educational placement and likelihood of inclusion settings in individuals with Down syndrome. 
  • Longitudinal Down syndrome Study: multi-site initiative to gather health information about medical comorbidities in Down syndrome. This study was designed to track health and medical history in individuals with Down syndrome across their lives, with health information gathered from existing medical records.

Researcher Services

Research Departments


Publications powered by Harvard Catalyst Profiles

  1. Levman J, MacDonald A, Baumer N, MacDonald P, Stewart N, Lim A, Cogger L, Shiohama T, Takahashi E. Structural magnetic resonance imaging demonstrates abnormal cortical thickness in Down syndrome: Newborns to young adults. Neuroimage Clin. 2019 May 28; 23:101874. View abstract
  2. Shiohama T, Levman J, Baumer N, Takahashi E. Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities. Pediatr Neurol. 2019 Mar 22. View abstract
  3. Trowbridge SK, Yuskaitis CJ, Baumer N, Libenson M, Prabhu SP, Harini C. Brain MRI abnormalities in patients with infantile spasms and Down syndrome. Epilepsy Behav. 2019 Mar; 92:57-60. View abstract
  4. Baumer N, Spence SJ. Evaluation and Management of the Child With Autism Spectrum Disorder. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):248-275. View abstract
  5. Hart SJ, Visootsak J, Tamburri P, Phuong P, Baumer N, Hernandez MC, Skotko BG, Ochoa-Lubinoff C, Liogier D'Ardhuy X, Kishnani PS, Spiridigliozzi GA. Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date. Am J Med Genet A. 2017 Nov; 173(11):3029-3041. View abstract
  6. 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 TL, Vellody K, Voelz L, Skotko BG. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet A. 2017 Jun; 173(6):1539-1545. View abstract
  7. Sharr C, Lavigne J, Elsharkawi IM, 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 KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Detecting celiac disease in patients with Down syndrome. Am J Med Genet A. 2016 12; 170(12):3098-3105. View abstract
  8. Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. National down syndrome patient database: Insights from the development of a multi-center registry study. Am J Med Genet A. 2015 Nov; 167A(11):2520-6. View abstract
  9. Baumer N, Davidson EJ. Supporting a happy, healthy adolescence for young people with Down syndrome and other intellectual disabilities: recommendations for clinicians. Curr Opin Pediatr. 2014 Aug; 26(4):428-34. View abstract
  10. Gaufberg E, Baumer N, Hinrichs M, Krupat E. Professional boundaries: the perspective of the third year medical student in negotiating three boundary challenges. Teach Learn Med. 2008 Oct-Dec; 20(4):334-9. View abstract
  11. Baumer N, Sandstede ML, Diederichs S, Kohler G, Readhead C, Ji P, Zhang F, Bulk E, Gromoll J, Berdel WE, Serve H, Muller-Tidow C. Analysis of the genetic interactions between Cyclin A1, Atm and p53 during spermatogenesis. Asian J Androl. 2007 Nov; 9(6):739-50. View abstract