Researchers at AC Immune, a biopharmaceutical company and global leader in developing precision medicine for neurodegenerative diseases, are testing a study treatment for Alzheimer’s disease in people with Down syndrome ages 35-50. This study is a clinical study, which means that researchers are testing potential new treatments that are not available to be prescribed yet. Right now, there is no treatment available for Alzheimer’s disease and dementia in people with Down syndrome. Your participation in this study could help find a treatment. No safety concerns have been raised in 40 people without Down syndrome who received the treatment. The ABATE Study researchers now want to confirm that the treatment is safe and see if it slows the progression of Alzheimer’s disease in people with Down syndrome. About 80 people with Down syndrome will take part in the ABATE Study. The study is being conducted in collaboration with the Alzheimer’s Clinical Trials Consortium – Down Syndrome – ACTC-DS. Participation in the study will take place at Massachusetts General Hospital (MGH) in Boston and will last for about 2 years.

If you are interested in participating, or if you have any questions, please visit the study website or contact the research team at MGH: 617-643-8912 or researchdownsyndrome@mgh.harvard.edu.

Researchers at the Infant Communication Lab at Boston University are conducting a study to better understand how infants with Down syndrome develop mobility and language skills in everyday life. The goal is to identify early predictors of milestones like crawling and walking, which could help guide future interventions to support motor development in infants with Down syndrome.

This study is seeking infants with Down syndrome who are 4 months old (±2 weeks, adjusted for prematurity) to participate. Families will complete brief surveys, provide short video clips, and welcome two home visits from the research team.

For more information, email the Infant Communication Lab at Boston University at buicl.studies@gmail.com or call (774) 275-3321.

Researchers at the Infant Communication Lab at Boston University are conducting a research study to observe the development of locomotion (crawling, cruising, walking), exploration, and communication and language skills in infants with Down syndrome. This information will help researchers 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. This study is looking for babies 24 months old or younger who can sit without support and not yet walk on their own.

For more information, email the Infant Communication Lab at Boston University at buicl.studies@gmail.com or call (774) 275-3321.

Cincinnati Children’s is conducting a research study, in both English and in Spanish, to create a tool to better measure problematic behaviors in children with Down syndrome.  Researchers hope to create the first ever tool of behavioral concerns that is specifically made for youth with Down syndrome and created with the Down syndrome community. Caregivers of children and teens 2 to 17 years old with Down syndrome may be eligible to participate. Caregivers will be asked to complete online surveys. The surveys will take about 20 to 50 minutes to complete, and participants can return to the surveys if needed. Optional additional surveys may be offered, to complete validation behavioral surveys, or complete the initial survey again two weeks later.

Click to begin the survey in English, or in Spanish. For more information, email DSresearch@cchmc.org.

Researchers at Boston Children’s Hospital Down Syndrome Program are conducting a multicenter, longitudinal study that will explore early play and communication skills in children with Down syndrome who are infant – 24 months! By studying thinking, communication, motor skills, and behavior, the goal is to improve screening for potential co-occurring conditions in children with Down syndrome. Participation consists of one or two visits to Boston Children’s Brookline (2 Brookline Place) each year for three years. Study visits will include child play activities and caregiver questionnaires. Families may receive compensation over the course of the 3-year project.

For more information, call or email the study team at DownSyndrome.Research@childrens.harvard.edu or 617-919-6809.

Researchers at Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary are studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent obstructive sleep apnea despite prior tonsillectomy. They will be researching how placement of an investigational surgically implanted nerve stimulator for the purpose of treating severe obstructive sleep apnea (OSA) improves the neurocognition and expressive language skills in children with Down syndrome, ages 10-21. This therapy has already been tested and approved by the FDA for use in adults meeting specific requirements. This research is being conducted by Drs. Hartnick and Skotko.

If you are interested in learning more about this study, and whether or not you/your child would be an appropriate candidate, please contact the research team by calling Dr. Hartnick at (617) 573-4206 or by email at Christopher_Hartnick@meei.harvard.edu.

Researchers at Massachusetts’s General Hospital’s Down Syndrome Program are creating an instrument that directly assesses health in individuals with Down syndrome. With over 200,000 individuals with Down syndrome living in the United States, it is important to accurately measure the health of all individuals with Down syndrome. However, there aren’t similar tools available for this population. Creating such an instrument will provide a measure of the current state of health for an individual with Down syndrome and be helpful in future research aimed at improving the health and happiness of individuals with Down syndrome.

If your child with Down syndrome is younger than 22 years old, you are eligible to fill out our SURVEY and help develop a Health Instrument for Individuals with Down syndrome.

Massachusetts General Hospital at the Lurie Center is conducting a study designed to evaluate the effects of fluoxetine in individuals with Down syndrome (DS). Participants must be adults between 18 to 45 years of age with Ds who are experiencing symptoms of depression. Participants must not have a diagnosis of dementia, obsessive-compulsive disorder (OCD), post-traumatic stress disorder (PTSD), bipolar disorder, psychosis or substance use disorder. Participants must not have taken fluoxetine before without stopping it early. Participants will receive all study related evaluations at no charge. For additional information about study requirements and study procedures, please contact Dr. Robyn Thom’s study staff at 781-860-1711 or LurieCenterResearch@partners.org.

A team of researchers, led by clinicians from Harvard Medical School and Massachusetts General Hospital, have created a survey to study the medical support that parents receive around the time of the birth of their child with Down syndrome. Participants should be parents of children with Down syndrome born in 2003 or later. The goal of this project is to understand how physicians deliver diagnoses of Down syndrome, how parents react to that news, and what strategies providers can adopt to best support parents’ decision-making and well-being after a child’s diagnosis. This study follows up on a previous study from 2003 with similar aims, whose results led to national legislation and guidelines for physicians. If you choose to complete their brief questionnaire, your responses will help inform future research, policy, and advocacy that will affect the medical care that future parents receive.

If you are willing to take the survey, you may click the link here. The survey should take about 15–20 minutes to complete. If you have any questions regarding this survey, please do not hesitate to contact Jonathan Artal, a member of the research team, at jartal@mgh.harvard.edu, or Brian Skotko, M.D., M.P.P., the principal investigator, at bskotko@mgh.harvard.edu or (617) 643-3196.

Scant research has explored the healthcare experiences of people with Down syndrome (DS) in the United States who are Black, African American, of African descent, or of mixed race. The purpose of this study was to identify and describe the barriers and facilitators that such patients and their caregivers face when accessing healthcare. We gathered data in three ways: focus groups with caregivers, a national survey completed by caregivers, and in-depth interviews with primary care providers. Many caregivers and primary care physicians felt that patients with DS who are Black, African American, of African descent, or of mixed race receive a lower quality of medical care than their white counterparts with DS. Caregivers mentioned feeling tired of being reminded by the medical community about their race and wanting acknowledgment that raising a child with DS can be hard at times. Many felt that the medical community’s conscious and unconscious racial biases do negatively impact the care of their loved ones with DS. Caregivers desired more race concordant medical providers or, when not possible, medical providers who are willing to learn more about DS and build trusted, longitudinal relationships. Primary care providers discussed the need for funded resources and support services to effectively care for their patients with DS. Read more.

We report on the health care experiences of individuals with Down syndrome (DS) from families who are primarily Spanish-speaking. Data were collected through three methods: (1) a nationally distributed, 20-item survey, (2) two focus groups with seven family caregivers of individuals with DS who self-identified as living in primarily Spanish speaking households, and (3) 20 interviews with primary care providers (PCPs) who care for patients who are underrepresented minorities. Standard summary statistics were used to analyze the quantitative survey results. Focus group and interview transcripts, as well as an open-ended response question in the survey, were analyzed using qualitative coding methods to identify key themes. Both caregivers and PCPs described how language barriers make giving and receiving quality care difficult. Caregivers additionally described condescending, discriminatory treatment within the medical system and shared feelings of caregiver stress and social isolation. Challenges to care experienced by families of individuals with DS are compounded for Spanish-speaking families, where the ability to build trust with providers and in the health care system may be compromised by cultural and language differences, systemic issues (lack of time or inability to craft more nuanced schedules so that patients with higher needs are offered more time), mistrust, and sometimes, overt racism. Building this trust is critical to improve access to information, care options, and research opportunities, especially for this community that depends on their clinicians and nonprofit groups as trusted messengers. More study is needed to understand how to better reach out to these communities through primary care clinician networks and nonprofit organizations. Read more.

Researchers at Virginia Tech conducted a nationwide, online survey to examine stress and perceived support among adolescent siblings of individuals with autism spectrum disorder (ASD) and Down syndrome (DS). Siblings completed measures of perceived support from family and friends, their relationship with their brother or sister with ASD or DS, the level of challenging behaviors in the brother/sister, overall levels of personal stress, and stress due to specific parts of their life.Importantly, there were no group differences on perceived support from family and friends or the sibling relationship. That is, siblings of individuals with ASD and siblings of individuals with DS both feel equally supported by friends and family and reported equally close relationships with their brother or sister. Additionally, the groups reported no significant differences on most sources of stress, including academics, social life, romantic life, family, environment, and personal health (scores for individual stressors were on a scale from 0-100).However, siblings of individuals with Down syndrome reported significantly less overall stress and significantly less stress due to their brother/sister than did siblings of individuals with ASD. At first, it seemed that this difference might be a result of the higher level of brother/sister behavior problems reported by siblings of individuals with ASD, but further statistical analyses showed that group membership (e.g. Down syndrome vs. autism spectrum disorder) predicted total stress levels even when controlling for brother/sister behavior problems. It is important to note that the overall stress scale had possible scores of 0-40, meaning that the group averages indicated mild to moderate levels of stress.Full results from this study are currently being written up for publication in academic journals. Please direct any questions to Dr. Carolyn Shivers, lead researcher.

American Journal of Medical Genetics Part A. Published by the research team at Mass General Hospital’s Down Syndrome Program.

Summary: This paper identifies a novel assessment that may rule out the presence of moderate and severe obstructive sleep apnea in patients with Down syndrome. Read more.

Brian Skotko of MassGeneral Hospital Down Syndrome Program and his partners released groundbreaking new study that sheds light on what’s possible for our loved ones with Down syndrome throughout the lifespan. When expectant parents learn their child will be born with Down syndrome, they invariably have questions about what this diagnosis will mean for their son or daughter and for the rest of their family. When will their child be able to walk, to speak clearly, to care for most basic needs? Will he or she be able to hold a job, to live or travel independently? A new study from investigators at MassGeneral Hospital for Children and colleagues in the Netherlands is providing answers to some of those questions.“More and more parents are opting for prenatal testing during their pregnancies, and if they learn about a diagnosis of Down syndrome, they want to know real-life answers to such questions,” says Brian Skotko, the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital (MGH), director of the MGH Down Syndrome Program, and senior author of the study published online in American Journal of Medical Genetics Part A. “Contrary to some public beliefs, people with Down syndrome never stop learning, and functional skills can still be attained and improved well into adulthood.” Read more.

People with Down syndrome never stop learning!
Brian Skotko, MGH Down Syndrome Program

A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine. Down Syndrome Clinic to You (DSC2U) is a first-of-its kind online health tool aimed at improving adherence to US national Down syndrome guidelines. This study finds the tool effective. Most caregivers and primary care physicians (PCPs) also reported high satisfaction with it. Read more.

A recently published study conducted by Massachusetts General Hospital looking at physical activity levels in adults with Down syndrome shows that most adults with Down syndrome are not achieving the recommended physical activity levels. Given the known health benefits of physical activity, the study helps us better understand the work that still needs to be done to maximize physical activity – an important health habit – in this population. Read more.

A recently published study conducted by Massachusetts General Hospital exploring the healthcare experiences of people with Down syndrome (DS) in the United States who are Black, African American, of African descent, or of mixed race. The purpose of this study was to identify and describe the barriers and facilitators that such patients and their caregivers face when accessing healthcare. We gathered data in three ways: focus groups with caregivers, a national survey completed by caregivers, and in-depth interviews with primary care providers. Many caregivers and primary care physicians felt that patients with DS who are Black, African American, of African descent, or of mixed race receive a lower quality of medical care than their white counterparts with DS. Read more.

A recently published study by Massachusetts General Hospital conducted with the goal of learning how individuals with Down syndrome view their personal health. Down syndrome has a unique medical and psychological profile, and it is not often explored from the point of view of the individual. Participants discussed physical, social, and mental well-being components of health in Down syndrome. Read more.

A recently published study conducted by Massachusetts General Hospital exploring the associations between Down syndrome, obesity/weight, and cardiometabolic risk (CR). While it is well-know that individuals with Down syndrome (DS) are at increased risk for being overweight/obese, the associated cardiometabolic risk (CR) is not clear. This study uses measurements of the human body and clinical laboratory data from a multi-site, international cohort of individuals with DS to determine cardiometabolic risk by reporting observed distributions of cardiometabolic biomarkers in overweight/obese individuals with DS throughout the lifespan. The data
suggests that in contrast to the general population, in individuals with Down syndrome, being overweight and obese does not appear to confer a significantly increased risk for cardiometabolic disease by biomarker profile. Individuals with DS who are overweight/obese appear to have unique cardiometabolic profiles. Read more