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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 for those individuals. 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 with Down syndrome. 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.

Parent Education Intervention in Down Syndrome

This completely virtual study will compare the impact of a 1:1 caregiver coaching intervention using the JASPER (Joint Attention, Symbolic Play, Engagement, Regulation) curriculum with a self-directed Psychoeducational Curriculum. We want to determine the impacts of both interventions on caregiver responsiveness, child joint engagement with the caregiver, and caregiver implementation of behavioral strategies. For children with Down syndrome (trisomy 21) ages 36 months to 72 months.

DS-CRUSH (Competence in Romance and Understanding Sexual Health in Down syndrome)

Expanding on a current project in the Faja Lab, the DS-CRUSH study will assess factors that impact dating, relationships, sexual health, and knowledge of young adults with Down syndrome.

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.

Project HOME (in collaboration with Boston University)

The purpose of this research study is to observe the development of locomotion (crawling, cruising, walking), exploration, and communication and language skills in infants with Down syndrome. This information will help us develop procedures for gathering data on infant development in the home that can be used in future intervention studies designed to provide infants with enhanced opportunities for movement.

Patterns of development

Project HOME (Harnessing Opportunities for Mobility and Exploration)

In collaboration with the Infant Communication Lab at Boston University, this project is a completely at-home, observational study exploring how young children with Down syndrome learn how to play. For infants and young children with Down syndrome (trisomy 21) through 2 years of age.

Project CAPEabilities (Communication  and Early abilities in Down Syndrome)

This is a multicenter, longitudinal study that will explore early play and communication skills in children with Down syndrome, and how these skills may relate to health and co-occurring conditions. By studying thinking, communication, motor skills, and behavior, our goal is to improve screening for potential co-occurring conditions in children with Down syndrome. For young children with Down syndrome ages 18 to 21 months at the time of first visit.

Closed studies

IDEA (Individual Development of Executive Attention) Study

Based out of the Faja Laboratory, IDEA 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). This study uses brain activity measurements (EEG) and provides neurobehavioral testing and feedback sessions. For toddlers and young children with Down syndrome ages 24 months or 48 months.

Life Pathways Study

In collaboration with the Institute for Community Inclusion at the University of Massachusetts Boston and the Institute for Human Development at the University of Missouri-Kansas City, 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.

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.

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.

Vascular Health and Risk Factors in Children with Down Syndrome

This is a cross-sectional and multicenter study evaluating cardiovascular disease risk factors and their impact on markers of early atherosclerosis (thickening/hardening of the arteries) through the use of cardiac ultrasound tests. For children and adolescents with Down syndrome ages 10 to 17.

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 congenital heart disease (CHD) to those with Down syndrome who do not have major heart problems. Participants will receive neurobehavioral testing and have the option to contribute a saliva sample. For children with Down syndrome ages 5 to 12.

Quality improvement

The Down Syndrome Program 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).
    • In this project we compared caregiver quality of life across three groups: families with children with autism spectrum disorder (ASD), families with children with Down syndrome (DS), and families with children who have both diagnoses. There were 610 families with children with ASD, 177 families with children with DS, and 35 families with children who have both diagnoses in this study. All caregiver participants completed the Pediatric Quality of Life Inventory Family Impact Model, which is a questionnaire that measures well-being in various areas of life. For example, the questionnaire includes questions about how tired someone is and whether they have difficulty completing household tasks. Families with ASD and families with both DS and ASD reported feeling more tired than families with DS. Families with ASD reported high stress and conflict in family relationships, while families with both DS and ASD reported challenges with physical and social functioning. However, families from all three groups stated that they were worried about their child’s future. This study highlights differences in quality of life, and shows us that certain families may benefit from additional supports and community engagement.
  • 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
    • This paper outlines the creation and application of a clinical database for our Down Syndrome Program (DSP), and it includes preliminary data from 842 database participants. The goal of the database is to detect patterns of development and health in children with Down syndrome (DS) in order to advance clinical care and developmental outcomes. As part of the data collection process, caregivers give information about their child’s development and skills. The child’s clinician then adds information about specific diagnoses and medications. The caregiver-reported information lets us learn more details about the day-to-day health of children with DS, but completing forms take a lot of time. We also determined that while our database represents the racial and ethnic diversity of the general Massachusetts population, it does not represent the full diversity of individuals with DS in Massachusetts. We concluded that it is possible to create a useful clinical database and doing so helps us learn more about DS.
  • 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
    • Many people with Down syndrome (DS) face medical and social barriers to exercise. Past research has shown the benefits of physical activity for individuals with DS, but accessible exercise options are still lacking. In this study, we conducted two versions of a multi-week group exercise program for 12 adolescents with DS (ages 11-17 years), which also included home exercise plans between sessions. Our goals were to see if this type of program was possible, and to track any changes in fitness and mood over the course of the program. We did surveys before and after the program asking about physical fitness, mood/behavior, and personal goals set by the parent and child. Most participants improved in at least one physical area and some had less anxiety, depression, and behavioral symptoms. Overall, a group exercise program with supported home workouts is helpful for teens with DS, and future versions of this program will include better exercise testing and more participants.
  • 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 & 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
    • Current research for Down syndrome (DS) is focused on finding new treatments that may improve individuals’ developmental outcomes and quality of life. In this project, we studied parents' attitudes toward having their children with DS participate in clinical trials that are focused on cognition. A clinical trial is a study that tests a new medicine or medical device. Thirty-seven parents participated in a phone call and/or focus group in which they were asked for their thoughts about improving their child’s intellectual ability and participating in clinical medication trials. Behavioral diagnosis, parent education, time, safety, and personal values all affected how parents feel about clinical research studies. Parents mostly supported improving learning and memory. However, they had different concerns about their child participating in clinical drug trials, such as wondering whether the risks may be greater than the benefits. Parents also said that they would face challenges like scheduling, time, and travel if they tried to participate in a trial. This study shows the importance of listening to families while planning research studies and working with different perspectives, values, and priorities.