This research is being conducted at Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary by Drs. Hartnick and Skotko. As healthcare providers, they 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. 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 the University of Wisconsin – Milwaukee are seeking family members of children with Down syndrome ages 5-18 to participate in a study about energy expenditure and weight-related behaviors. In this virtual study, the research team wants to learn more about weight-related behaviors in children with Down syndrome. Results from this study will provide valuable information needed to promote healthy weight in individuals with Down syndrome. You will be compensated for participating.

If your child with Down syndrome is between the ages of 5-18 years old, you are eligible to participate. If you are interested, please visit the research website or reach out to Dr. Michele Polfuss at mpolfuss@uwm.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.

The Boston Children’s Hospital Down Syndrome Program has announced a new parent education opportunity! Researchers are looking at the possible effectiveness of two different parent education programs that focus on social interaction, play skills, strategies for managing challenging behavior, and overall development. This opportunity is for children with Down syndrome who are between 36-72 months old and their caregivers.

This study is 100% virtual and can be done from home! Participation consists of 10 weeks of material via email or Zoom. Parent surveys and developmental assessments will be conducted at the start of the program, the end of the program, and 10 weeks follow-up.

For more information, email or call the Down Syndrome Program research coordinator at dsjasperstudy@childrens.harvard.edu or 857-218-4779. Participants will not be compensated.

Massachusetts General Hospital is conducting a research study to examine the effectiveness of transcranial photobiomodulation (tPBM) on improving language, memory, and attention in adults with Down syndrome ages 16-35.

The study consists of 1 screening visit, approximately 3 study visits and 18 treatment sessions (3/week for 6 weeks). Study visits include neuropsychological testing, EEG testing, and MRI scans. Participants will be compensated for participating, for costs of transportation, and caregivers will also receive a stipend.

If you are interested in participating, please contact MGH researchers at 617-724-4539

Researchers at Northeastern University are conducting a research study examining how sucking and feeding outcomes differ between infants with Down syndrome (DS), infants with Down syndrome and congenital heart disease (CHD), and infants without DS or CHD. You may participate in this study if you are the mother or female caregiver/guardian of an infant 3 months old or younger.

If you are interested, contact Alaina for more information at nusnlab@gmail.com or (617)-373-4670.

The Alana Down Syndrome Center at the Massachusetts Institute of Technology, is recruiting individuals with Down syndrome (Ds) ages 25-65 for a study examining how the brain responds to light and sound stimulation.

The goal of this research is to develop a non-invasive medical device that is effective in slowing the rate of cognitive impairment and changing the course of memory disorders in Ds. Your participation will help researchers understand the impact of a possible disease modifying therapy to prevent the progression of dementia and to develop a method that slows down Alzheimer’s Disease progression in the Ds population.

This study will consist of a single-session (3.5 hours). Participants will undergo pre-study mental health evaluations, EEG recordings to measure brain activity, exposure to light flicker and/or click sounds delivered at high frequencies to alter brain activity, and additional cognitive testing following light/sound stimulation sessions.

You can participate if you are an individual with Ds age 25-65 and if you:
Have no history of seizures, epilepsy or stroke in the past 24 months.
Have no history of migraine headaches.
Have no history of major depression, bipolar disorder or psychotic disorders, or any other major psychiatric condition.
Are not on active treatment with an anti-epileptic agent.

If you are interested in participating in this study, please contact Gabrielle for more information by emailing gdeweck@mit.edu or calling 617-258-7723

Researchers at UMass Chan Medical School are recruiting teens ages 12-16 with intellectual disabilities for a virtual sports skills and nutrition study. Sessions will be conducted by Zoom and tablets will be provided to all participants. The goal of this study is to build knowledge, skills, confidence, and motivation to live an active and healthy lifestyle. Sports Skills Sampling gives teens the opportunity to practice different sports to find out what they like and to practice basic movement skills. Nutritional Education includes learning about healthy eating, trying new foods, and learning to make healthy snacks. Participants must be able to communicate verbally in English, walk without assistance, and participate in group sports skills programming.

To see if your teen qualifies or for more information, call 774-570-2207 or email N2S2study@umassmed.edu

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.

Ruth Brown, PhD, an assistant professor at Virginia Commonwealth University, is recruiting participants for a research study to better understand family strengths and needs associated with raising a child with Down syndrome (Ds) during the COVID-19 pandemic. Your participation in a brief survey will help researchers to learn more about the things that affect how families with a child with DS cope, hope, and adjust.
Participants should be current parents/guardians raising a child with Ds. The survey should take about 20-30 minutes and participants will be asked to complete follow-up surveys in 2, 4, and 6 months.
If you are interested in participating, please visit the online survey or email Ruth Brown at ruth.brown@vcuhealth.org with any questions.

The aim of this study is to understand how important cognitive skills like memory and attention are related to mental health in individuals with Down syndrome. Participants will complete two short activities that measure memory and attention. Caregivers will complete a questionnaire about their loved one’s behaviors, emotions and interpersonal relationships.
Location: Online! All sessions will be conducted online using Blackboard Collaborative Ultra which can be accessed with any smart phone, tablet or computer.

Are you eligible? Ages 10-18 years old, no existing Autism Spectrum Disorder
If you would like to participate or have any questions, please email Jessalin Good at jgood@usca.edu or call her at 803-522-6260.

Help LuMind IDSC Foundation gain a better understanding of the impact sleep apnea has on people with Down syndrome and their caregivers!

They are seeking at least 500 parents and caregivers of people with Down syndrome and sleep apnea for 15 minutes to complete this survey on their knowledge of sleep apnea – diagnosis, treatment options, and compliance – to evaluate the impact care management has on families.

All personal identifiable information (PII) in this survey will be de-identified from the survey results. The survey results will be shared broadly at Down syndrome conferences, with key Down syndrome research organizations, online communities, and published in a peer-reviewed journal.

By participating in this survey and providing your email address, you will be entered to win one of three $50 Amazon gift certificates.

https://www.surveymonkey.com/r/SleepApneainDS (English)
https://es.surveymonkey.com/r/LuMindesp (Spanish)

If you have any questions or concerns about this survey please feel free to email the staff at LuMind IDSC at LuMindIDSC@lumindidsc.org or Cincinnati Children’s Hospital ORCRA@cchmc.org.

Do you have a loved one with Down syndrome who is over the age of 25? Or are you a person with Down syndrome over the age of 25? Recruitment is now open at Massachusetts General Hospital in Boston, MA for the Longitudinal Investigation For the Enhancement of Down Syndrome Research (LIFE-DSR) study – the first study run in the Down Syndrome Clinical Trial Network (DS-CTN). The study is expected to complete in 2021.

The LIFE-DSR study is an observational investigation with the goal to better understand the cognitive and behavioral changes along with the health issues found in adults with Down syndrome as they progress toward Alzheimer’s disease.

The study is recruiting adults 25 years of age or older and each participant will undergo a baseline evaluation followed by a 1-year then a 2-year follow-up visit. Each participant will undergo a routine health exam including blood collection and will take cognitive and behavioral evaluations at each visit.

To learn more, visit http://www.ds-ctn.org/LiFE-DSR.html

Are you a young adult ages 16-23 with a developmental or intellectual disability? Do you have a mental health condition?

Join a peer mentoring program to learn how to deal with mental health challenges. Sometimes people have a hard time with their mental health. They might feel sad, anxious, or angry. A peer mentor can help you!

• What is peer mentoring?
  • A peer mentor is someone who also has a disability and a mental health condition.
  • A peer mentor helps you learn new things.
  • Peer mentors do activities with you to help your mental health.
  • Peer mentors can be fun and easy to talk to.
• What will happen?
  • You will meet with your peer mentor every week for 8-12 weeks.
  • You will receive a $100 “thank you” gift card for doing all of the peer mentoring activities.
• Who can be in the peer mentoring study?
  • Young adults ages 16-23 who have an intellectual/developmental disability and co-occurring mental health condition. This includes people receive treatment for mental health-related symptoms (e.g., anxiety, feelings of sadness)
  • Live within the MBTA service area, including buses and trains.

Ariel Schwartz at Boston University is in charge of this study. For more information or to sign up for a peer mentor in Fall 2019, contact her at: aeschwar@bu.edu or 617-353-7492.

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