This research is being conducted at Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary by Drs. Hartnick, Diercks, Kearny, Schwartz, and Skotko. As healthcare providers, they are interested in providing not only the best care for patients with Down syndrome but also in promoting research to understand and find better ways to treat their medical conditions. They are studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent sleep disordered breathing despite prior tonsillectomy. They will be researching whether placement of an investigational surgically implanted nerve stimulator, similar to a pacemaker, is safe and effective in relieving airway obstruction during sleep. This therapy has already been tested and approved for use in adults meeting specific requirements. The purpose of this notice is to inform you about the study. Participation is voluntary. Whether or not you decide to participate will have no effect on your relationship with Massachusetts Eye and Ear Infirmary and/or Massachusetts General Hospital as a patient. 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.

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.

The research team from UMass Medical School, UMass Boston, and Tufts University School of Medicine are conducting a sport sampling and nutrition education study for teens with intellectual disability ages 12-16 years with the goal of building knowledge, skills, confidence, and motivation in life. Sport Sampling gives teens the opportunity to try different sports to find what they like and to practice basic movement skills. Nutrition Education includes learning about healthy eating, trying new foods, and learning to make healthy snacks. To see if you qualify or for more information call 774-570-2207, email N2S2study@umassmed.edu, or visit their website.

Boston Children’s Hospital Down Syndrome Program and the Boston Children’s Hospital Laboratories of Cognitive Neuroscience has an exciting new research opportunity called the Infant Screening Project. The purpose of this research is to better understand early language and social communication development in children with Down syndrome by using developmental and behavioral assessments and brain activity (EEG) measurements.

To be eligible for participation, they are looking for children with Down syndrome/Trisomy 21 who are between 12-36 months of age. The study will require you to come into lab for ONE visit, which will last about 3 hours long, and then to go home with a special device that will record your child’s speech samples for 16 hours.

Visits consist of several different things:

• They complete developmental assessments where an examiner plays with your child to see how your child is developing.
• Parents will complete surveys about your child’s development and medical history.
• They will be measuring your child’s brain waves using an EEG cap that sits on your child’s head, like a swim cap. This will allow them to look at your child’s brain response to different audio and visual stimuli so that they can better understand visual and language processing.
• They will use a special computer with an eye-tracking device which allows them to see where your child is looking when they show pictures on a computer screen.
• – After your visit they will ask you to bring home small recorders called Language Environment Analysis (LENA) devices that your child wears to record the sounds he or she hears. LENA technology records the frequency of speech during conversations and will be collected at your home (each device will record up to 16 hours).

Follow this link to see what a visit to the Labs of Cognitive Neuroscience looks like! They will reimburse parking at Boston Children’s Hospital or train passes and families will also receive a small toy and cash reimbursement after the visit as a token of their appreciation.

If you are interested in participating or would like to learn more, please contact the researchers by emailing downsyndrome.research@childrens.harvard.edu or calling 617-919-6809.

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.

Can behavioral therapy help children with Down syndrome learn? Help researchers at Boston Children’s Hospital Down Syndrome Program find out!

Can behavioral therapy help children with Down syndrome learn? Help researchers at Boston Children’s Hospital Down Syndrome Program find out!

WHAT: They are looking at the effectiveness of a behavioral therapy called JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation) in children with Down syndrome.

WHO IS ELIGIBLE: This opportunity is for children with Down syndrome (Trisomy 21) who are 3 years old.

JASPER will consist of 12 weekly visits for behavioral therapy sessions and weekly video or phone calls. EEG measurements, behavioral testing, and parent surveys will also be done at baseline, 3 months, and a 6 months follow-up.

For more information, email or call the Down Syndrome Program research coordinators at 617-919-6435 or downsyndrome.research@childrens.harvard.edu

To learn more about JASPER: http://www.kasarilab.org/treatments/jasper/

Members of the Down syndrome community have a wide range of opinions about scientific efforts to enhance cognition and clinical drug trials for individuals with Down syndrome.

Share how YOU feel about these topics by participating in a study conducted by researchers at Boston Children’s Hospital!

Participation includes:

• Completing an online survey (10-15 minutes)
• The option to participate in a one-time parent focus group that elaborates on topics from the online survey

(Note: Alternatively, parents can sign up for a phone interview if they are unable to attend a focus group)

Interested? To take the survey, please click on the link below or copy and paste the link into your browser: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=YNEREPPTNX

Questions? Contact Maggie at DownSyndromeResearch@childrens.harvard.edu

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.