From the Director:
Down Syndrome Medical Interest Group Adult Health Care Initiative

Dear Parents and Friends,

Every year at our annual symposium, we review and discuss the many medical conditions known to co-occur in adults with Down syndrome. Some are acquired in early or mid-adulthood, while others are linked to an “accelerated aging” process. As longevity for people with Down syndrome has improved steadily since 1970 and continues to increase (babies born with Down syndrome are now expected to reach at least the age of 55), a wave of adults with Down syndrome is entering the medical system. What we hear from families is that many adult physicians are unfamiliar with the needs and concerns of our aging population, in part because they’ve received no prior exposure to or training in caring for older adults with Down syndrome. 

In 2015, together with my colleagues in the Down Syndrome Medical Interest Group U.S.A. (DSMIG-USA), I helped initiate a project to review the entire medical literature concerning adults with the condition. We did this in an effort to create health care guidelines designed to improve the well-being of all adults with Down syndrome, and I’m happy to report that as of 2017, we are well on our way toward meeting this goal. 

The task entailed searching the National Library of Medicine database (PubMed) for published articles covering a wide variety of health conditions that can affect our population, and then critiquing and grading the quality of the evidence presented regarding the best approach to screening, evaluation and treatment. As anticipated, the quantity and quality of much of this evidence was found to be only fair at best for the purposes of guiding clinical care and decision making. There is simply not enough high-quality clinical research being done for adults with Down syndrome that can be translated into clear medical guidance for families and physicians alike. Nonetheless, we know enough so that expert opinion about the screening and evaluation of these conditions will continue to advance under the stewardship of DSMIG-USA.

Published health care guidelines will go a long way toward informing and educating families and physicians on these critical topics. Furthermore, the literature review process itself lays bare the huge gaps in our clinical knowledge base, which can only be addressed by having better-organized and -funded multi-center research and data-collection efforts. At Kennedy Krieger Institute, we are well-positioned to work with our colleagues in DSMIG-USA to design and conduct person-centered clinical research that will have an impact on the health and well-being of all people with Down syndrome. 

George Capone, MD

Recent Travel:

Ethan Saylor Memorial Film Festival - Jan. 14-15, 2017

On Jan. 15, Dr. George Capone was one of many who traveled to Annapolis to take part in the inaugural Ethan Saylor Memorial Film Festival at the Bow Tie Cinemas. The event featured 14 films by and about young people with Down syndrome and told in their own voices.

The highlight was the airing of “Ethan’s Law,” a film about the remarkable events set into motion following the tragic death of Ethan Saylor in January 2013. Ethan’s mother, Patti, responded by lobbying for new legislation in the state of Maryland on measures to improve the training of law enforcement officials and other first responders, so that they might be better informed about how to interact and communicate appropriately with people who have special needs. The Ethan Saylor Alliance for self-advocates developed a training program for police officers in Maryland, and the program will serve as a model for similar efforts around the U.S. Learn more at and

Travel Forecast:

  • National Down Syndrome Congress Annual Convention, in Sacramento, California - July 21–23, 2017
  • Down Syndrome Medical Interest Group U.S.A. Symposium, in Sacramento, California - July 21–22, 2017

Dr. George Capone will attend the Down Syndrome Medical Interest Group U.S.A.’s (DSMIG-USA) annual symposium in Sacramento, California, in July. DSMIG-USA is an organization for professionals working in the field of Down syndrome. It is held each year in conjunction with the National Down Syndrome Congress (NDSC). The conference serves as an interdisciplinary forum for sharing knowledge and experiences related to the clinical care of children and adults with Down syndrome. Adult health care will continue to be one of our major themes.

  • First India International Down Syndrome Conference, in Delhi, India - Sept 9–10, 2017

Dr. Capone will attend India International Down Syndrome’s (IIDS) first conference, which will be held in Delhi, India, in September. He will speak on general medical guidance, sleep problems and behavior-mental health concerns in adults with Down syndrome.

Current Research Initiatives at Kennedy Krieger:

1. Parents of Children with Down Syndrome Needed for a Questionnaire Study of Behavior and Adaptive Function

We are currently recruiting participants for a study intended to help us better understand behavior, executive function, sleep and adaptive skills in children and adolescents with Down syndrome.

We are interested in parents or guardians of children with behavior issues, as well as in parents or guardians of children without behavior issues, as we are trying to determine the quality of these characteristics across a broad sample of children and adolescents.

Who: Parents or guardians of children between 3 and 15 years old with Down syndrome

What: Each subject will:

  • Complete and return a signed consent form
  • Complete questionnaires designed to collect information on the behavior, executive function, sleep and adaptive skills of their child with Down syndrome
  • Provide copies of their child’s recent psycho-educational evaluations or speech and language reports, and a copy of their child’s chromosome report, if available

Where: Questionnaires may be completed at home. Completed questionnaires and available records should be returned via email, U.S. mail or fax.

Study sponsor: The Johns Hopkins Institute for Clinical and Translational Research
PI: Dr. George Capone
Protocol Number: NA_00012403

2. Adults with Down Syndrome Needed for Study on Depression and Sleep Disorders

We are currently recruiting individuals with Down syndrome, ages 18 to 35, with mental health concerns, such as low motivation, depressed mood, social withdrawal, motor slowing and loss of functional skills. We are also recruiting individuals with Down syndrome without mental health concerns or functional decline.

We cannot accept individuals with disruptive or non-compliant behaviors. All subjects will receive a comprehensive evaluation assessing general level of function, behavior, mental health, sleep quality, body shape and proportion, and dietary and nutritional status. The study will include a sleep study and collection of urine, saliva and a morning blood sample for biochemical testing.

The goal of the study is to improve our understanding of the relationship between sleep, stress, metabolism and mental health in people with Down syndrome. The study requires one extended visit over a two-day period, including one overnight visit at The Johns Hopkins Institute for Clinical and Translational Research. There are minimal risks and no direct medical benefits for participating. Participants will receive medical test results that may be of interest to them or their physicians. A cash incentive is offered for participation.

We will try our best to accommodate participants’ schedules.

Study sponsor: The Johns Hopkins Institute for Clinical and Translational Research
PI: Dr. George Capone
Protocol Number: NA_00018279

3. Genetic Influences on Learning and Behavior

Kennedy Krieger Institute is recruiting individuals with Down syndrome, ages 6 to 25, for the Down Syndrome Phenotype Project research study. Participants will be asked to complete short questionnaires and a phone interview, and—for some participants—to submit blood and saliva samples.

Study sponsor: LuMind Research Down Syndrome Foundation
PI: Dr. Stephanie Sherman and Dr. Roger Reeves
Protocol Number: NA_00031164

4. Adults with Down Syndrome Needed for Study on Brain Imaging

Amyloid Imaging in Adults With Down Syndrome, ages 21–60

Through a partnership between the Down Syndrome Clinic and Research Center (DSCRC) at Kennedy Krieger Institute and Dr. Gwenn Smith of the Department of Psychiatry and Behavioral Sciences at The Johns Hopkins University, we are piloting a study of brain metabolic function in adults. The study involves cognitive and behavioral testing and making MRI and PET scans of the brain to determine metabolic activity—and whether amyloid protein deposition is present. The various studies will be performed over several visits. There is no cost to families. Compensation for time and transportation will be provided.

PI: Dr. Gwenn Smith
Protocol Number: NA_00083831

Recent Publications:

Outcome Measures for Clinical Trials in Down Syndrome

Individuals with Down syndrome (DS) have an uneven profile of cognitive abilities, with more pronounced deficits in learning, memory, and expressive language. Studies of cholinesterase inhibitors in children with DS have been limited. This study aimed to: (i) investigate the safety and efficacy of rivastigmine treatment; (ii) build upon our previous open-label studies in children with DS; and (iii) investigate specific cognitive domains that may respond to rivastigmine treatment. The results did not demonstrate evidence for significant improvement in cognition, language, or overall function in the children receiving rivastigmine. Our results suggest that rivastigmine is safe and well-tolerated for children and adolescents with DS, but may not be effective for improving performance on the selected measures in this study.

Increasingly, individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, effectively evaluating the outcomes of these new pharmacological interventions presents a challenge. Few empirically evaluated, psychometrically sound  outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health have assembled leading clinicians and scientists to review existing measures and identify those that are appropriate for trials, as well as areas for which new measures need to be developed. This paper focuses on measures for the areas of cognition and behavior. 

Anna J. Esbensen, Stephen R. Hooper, Deborah Fidler, Sigan Hartley, Jamie Edgin, Xavier Liogier d’Ardhuy, George Capone, Frances Conners, Carolyn B. Mervis, Leonard Abbeduto, Michael Rafii, Sharon J. Krinsky-McHale, Tiina Urv and the Outcome Measures Working Group, “Outcome Measures for Clinical Trials in Down Syndrome, American Journal of Intellectual and Developmental Disability,” American Journal on Intellectual and Developmental Disabilities 122, no. 3 (2017): 215–234.

A second paper focuses specifically on the use of The Arizona Cognitive Test Battery in clinical trials. It was developed by Dr. Jamie Edgin with support from LuMind Research Down Syndrome Foundation.

Jamie O. Edgin, Payal Anand, Tracie Rosser, Elizabeth I. Pierpont, George Capone, Leonard Abbeduto, Roger H. Reeves and Stephanie Sherman, “The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects,” American Journal on Intellectual and Developmental Disabilities 122, no. 3 (2017): 247–281.

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