Down Syndrome Program | Research & Innovation

Down Syndrome Program Research Studies

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

  • 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.

Brain Processes and Patterns of Neurodevelopment

  • 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).
  • IDEA (Individual Development of Executive Attention) Study: The study, which is based out of the Faja Lab, 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).

Co-Occurring Medical Conditions and Development

  • Genetics of Congenital Heart Disease Study: This is a study with collaborators in 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.
  • 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.
  • Regression in Individuals with Down Syndrome: This project uses a medical record review to 1) characterize regression in individuals with Down syndrome, and 2) identify potential risk factors for regression and catatonia in individuals with Down syndrome.

Dual Diagnosis of Down Syndrome and Autism Spectrum Disorder (ASD)

  • 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 www.SPARKforAutism.org/BCH.

Family Perspectives

Fitness and Wellness

  • DS-Fit: 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.

Closed Studies

  • 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, and 2) clinical drug trials for individuals with Down syndrome.
  • PCORI (Patient-Centered Outcomes Research Institute) Phenotype Study: Collaborators in Genetics 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.
  • Roche Clinical Trial: This clinical trial was a randomized, double-blind, placebo-controlled study of a medication in children with Down syndrome ages 6-11. The trial focused on cognition enhancement and ran from 2015-2017.

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.