Current Environment:

Studies

The Boston Children’s Hospital Down Syndrome Research Program is closely aligned and integrated with clinical care in our mission to help all individuals with Down syndrome reach their fullest potential. Research is critical to improving the lives of individuals with Down syndrome. Through partnerships with families, researchers, and clinicians, we have developed a research program that addresses high-priority needs for individuals with Down syndrome.

The core focus across all of our research studies is to better understand the medical issues, brain processes, and patterns of neurodevelopment of individuals with Down syndrome that will lead to more effective treatments to improve health, behavior, and development in individuals with Down syndrome. Below are some of our current and past research projects. Keep an eye on this page, as we add new studies often.

To learn more about any study listed below, please contact our Down Syndrome Program research team at downsyndrome.research@childrens.harvard.edu or 617-919-6435.

Behavioral, educational, and medical interventions

  • Pharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children per Standard of Care (POP-02): In this project, we are looking to see how certain drugs, given by your child’s regular health care provider and as part of your child’s routine care, act in the bodies of children and young adults. Specifically, this study will look at children and adolescents with Down syndrome (Trisomy 21) less than 21 years of age who are currently receiving the medication Guanfacine and/or the medication Sertraline.

Brain processes and patterns of neurodevelopment

  • BRIDGE (Brain Indicators of Developmental Growth): In collaboration with the Laboratories of Cognitive Neuroscience, this study is investigating how differences in brain activity affect learning, language, and behavior in children with Down syndrome by using behavioral assessments and brain activity measurements (EEG). For toddlers and young children with Down syndrome ages 24 months to 66 months old.
  • IDEA (Individual Development of Executive Attention) Study: The study, which is based out of the Faja Laboratory, seeks to understand the early development of executive control (i.e. how children think while working toward a goal, learning to do something new, or controlling their behavior). For toddlers and young children with Down syndrome ages 24 or 48 months old.

Co-occurring medical conditions and development

  • CHILD–DS (Congenital Heart Disease: Impact on Learning and Development in Down Syndrome): CHILD-DS is a multicenter study that will compare the learning, behavior, and development of children with Down syndrome who have had surgery for CHD to those with Down syndrome who do not have major heart problems. For children with Down syndrome ages 5-8.
  • Regression in Individuals with Down Syndrome: This project uses a medical record review to:
    1. characterize regression in individuals with Down syndrome
    2. identify potential risk factors for regression and catatonia in individuals with Down syndrome.

Family perspectives

  • Life Pathways Study: In collaboration with the Institute for Community Inclusion at the University of Massachusetts Boston and the Institute for Human Development at University of Kansas City-Missouri, this project studies how the use of an online group education program about transition planning may impact caregiver expectations, beliefs, and their ability to take small steps to achieve future goals. For caregivers of children with Down syndrome ages 10-14 who are currently living in Massachusetts.
  • Exploring Caregiver Experiences of Stress and Support During COVID-19: The purpose of this study is to better understand the new challenges and experiences that parents and caregivers have faced during the COVID-19 pandemic. Participants complete an online survey and can also opt into a one-time interview.

Fitness and wellness

  • Coming soon! DSFit Community Collaboration: In partnership with a local gym that was created for neurodivergent people and their families, DSFit Community Collaboration is a virtual weekly group exercise program for adolescents and teenagers with Down syndrome.

Closed studies

  • DSFit 1 & 2: This research pilot program teaches a home-based exercise program to adolescents and teenagers with Down syndrome over the course of weekly group exercise sessions. An optional component of the program uses standardized measurements to assess the impact of exercise on fitness levels as well as mood and attention symptoms.
  • Genetics of Congenital Heart Disease Study: This is a study with collaborators in the Department of Cardiology who are looking at genetic differences between individuals with Down syndrome who have congenital heart disease (CHD) and individuals with Down syndrome who do not have CHD.
  • Infant Screening Project: In collaboration with the Laboratories of Cognitive Neuroscience, this program is looking to better understand early language and social communication development in children with Down syndrome by using developmental and behavioral assessments and brain activity measurements (EEG).
  • JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation): In collaboration with the Laboratories of Cognitive Neuroscience, this behavioral intervention is designed to teach young children the skills of joint engagement (social interaction with others), joint attention (paying attention to the same thing at the same time as another person), and play.
  • Parent Attitudes Towards Enhancing Cognition and Clinical Trials: This study used surveys, phone interviews, and a focus group to explore parent attitudes toward.
    1. medical/scientific efforts to enhance cognition in individuals with Down syndrome
    2. clinical drug trials for individuals with Down syndrome.
  • PCORI (Patient-Centered Outcomes Research Institute) Phenotype Study: Collaborators in the Division of Genetics and Genomics have developed surveys that people with undiagnosed genetic conditions can use to document medical symptoms and physical features. These surveys were initially tested in cohorts that have known genetic conditions, like individuals with Down syndrome.
  • Quality of Life/Family Functioning in Down Syndrome vs. Autism Spectrum Disorder: This study is a review of parent responses for more than 100 patients at the Developmental Medicine Center who are any age and have been diagnosed with Trisomy 21/Down syndrome, autism spectrum disorder (ASD), or both Down syndrome and ASD.
  • Roche Clinical Trial: This clinical trial was a randomized, double-blind, placebo-controlled study of a medication in children with Down syndrome ages 6 to 11. The trial focused on cognition enhancement and ran from 2015-17.
  • SPARK: SPARK, sponsored by the Simons Foundation Autism Research Initiative, has the mission of speeding up research and advancing understanding of autism by building the nation’s largest autism study. You can register online and contribute a saliva sample using a collection kit from your home. Individuals with autism will receive gift cards valued up to a total of $50 for participating. Registration and information can be found online at this webpage.

Quality improvement

The DSP has various projects in place behind the scenes to improve quality of care for the hundreds of patients and families that we interact with each year. Many of these projects focus on standardizing how we collect patient information from parents, families, and providers through new electronic surveys and intake forms. These initiatives will enable us to learn more about development, behavior, and medical conditions over time in individuals with Down syndrome and to improve our clinical care. We also have a literacy initiative underway, which has the goal of better assessing and promoting literacy across patients of all ages. Our programming for the literacy initiative has included surveys to capture reading level and interest, a virtual reading club, and a free book giveaway at clinic.

Publications

  • Soccorso, C., Milliken, A., Hojlo, M., Pawlowski, K., Weas, S., Sideridis, G., & Baumer, N. Quality of Life and Family Impact in Down Syndrome, Autism Spectrum Disorder, and Down Syndrome+Autism. Journal of Developmental and Behavioral Pediatrics. (Accepted for publication).
  • Baumer, N. T., Hojlo, M. A., Lombardo, A. M., Milliken, A. L., Pawlowski, K. G., Sargado, S., Soccorso, C., Davidson, E. J., & Barbaresi, W. J. Development and implementation of a longitudinal clinical database for Down syndrome in a large pediatric specialty clinic: Methodology and feasibility. Journal of Intellectual Disabilities. https://doi.org/10.1177/17446295221133874
  • Hojlo, M. A., Milliken, A. L., Baumer, N. T., & Davidson, E. J. (2022). DSFit: A feasibility pilot study of a group exercise programme for adolescents with Down syndrome. Journal of Intellectual Disability Research. https://doi.org/10.1111/jir.12977
  • Santoro, S. L., Baumer, N. T., Cornacchia, M., Franklin, C., Hart, S. J., Haugen, K., Hojlo, M. A., Horick, N., Kishnani, P. S., Krell, K., McCormick, A., Milliken, A. L., Oreskovic, N. M., Pawlowski, K. G., Sargado, S., Torres, A., Valentini, D., Vellody, K., & Skotko, B. G. (2022). Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. American journal of medical genetics. Part A, 188(10), 3049–3062. https://doi.org/10.1002/ajmg.a.62922
  • Sargado, S., Milliken, A. L., Hojlo, M. A., Pawlowski, K. G., Deister, D., Soccorso, C. N., & Baumer, N. T. (2022). Is Developmental Regression in Down Syndrome Linked to Life Stressors? Journal of developmental and behavioral pediatrics, 43(7), 427–436. https://doi.org/10.1097/DBP.0000000000001086
  • Christensen, K. M., Hojlo, M., Milliken, A., & Baumer, N. T. (2021). Parent attitudes toward enhancing cognition and clinical research trials in Down syndrome: A mixed methods study. Journal of Developmental & Behavioral Pediatrics, 42(5), 380-388. https://doi.org/10.1097/dbp.0000000000000900