To bridge the gap between science on the one hand and family needs on the other hand, the T21RS Committee for Science & Society organized a session devoted to exchanging perspectives between scientists and family members. Scientific attendees of the conference were joined by nearly hundred family members and people with Down syndrome. Prof. Peter De Deyn (University of Groningen, The Netherlands), chairman of the Committee for Science & Society, opened the symposium by introducing the Committee and stressing the importance to deepen collaboration between scientists and family associations. Members are encouraged to submit a contribution for a T21RS Science & Society Bulletin, a periodical publication on t21rs.org in which researchers explain their research topic and major findings in an understandable way for a broader audience.
Hampus Hillerstrom, CEO of the Lumind-IDSC foundation (Burlington, USA), continued by presenting results from a family survey about Down syndrome research. The survey was completed by 256 parents in 8 countries. Consistent with other surveys, the most prominent medical concerns raised by parents related to Alzheimer’s disease (AD), cognition, sleep, speech and behaviour. They feel that these areas, amongst others, need more investigation. However, the survey also showed that a substantial number of parents have concerns about risks, transparency and intent of studies. Reasons (not) to participate in studies relate to e.g. distance to the research study site, access to results, the study purpose and the invasiveness of procedures. Finally, Hillerstrom asked the audience to think along about the issue of including minorities in research, such as families with lower income or from non-European descent, which remains a challenge and apparently requires another recruitment strategy.
Subsequently, Dr. Juan Fortea, neurologist at Sant Pau Hospital (Barcelona, Spain) zoomed in on AD, the main medical problem and cause of death in adults with DS. Since life expectancy of people with DS has increased substantially over the last century, AD has become more prominent in this population. Nevertheless, we are more aware of comorbidities in children with DS than later in life. Fortea presented the innovative health plan for adults with DS in Catalonia, which combines annual screenings with the possibility to participate in research. Biomarker studies are a major focus of this cohort study, because 1) the diagnostic performance of biomarkers might be different from the general population, 2) it contributes to understanding AD pathophysiology in DS and 3) it may allow for patient selection and monitoring of treatment efficacy in clinical trials. Fortea briefly highlighted the promising diagnostic performance of the classic AD biomarkers (Aß1-42, t-tau, p-tau) in cerebrospinal fluid, as well as the finding that the Neurofilament light (NfL) concentration in plasma may be useful as well. Since blood sampling is less invasive than a lumbar puncture, this plasma biomarkers may change future clinical practice.
Next, Michelle Whitten, CEO of the Global Down Syndrome Foundation (Denver, USA), gave an overview on how the foundation contributes to scientific research, medical care, education and advocacy. One of the main achievements is the establishment of the Linda Crnic Institute for Down Syndrome in 2008. This institute in Denver hosts over two hundred scientists working on AD, cognition, immunology, stem cells, genetics and leukemia. The Global Down Syndrome Foundation also promotes research by lobbying for DS research funding in Washington D.C. Whitten emphasized the important increase in DS research funding in recent years provided by the National Institutes of Health (USA).
The symposium continued with an interactive debate about participation in research, focusing on 1) donation of blood and tissue – among which post mortem brain donation – for scientific research, 2) communication of study results to participants, and 3) whether studies should have direct benefit do participants. These topics were introduced by chairman De Deyn and interactively discussed by members of the audience, parents, self-advocacy speakers with DS, representatives from family associations and an expert panel. The panel consisted of dr. Diana Bianchi (NICHD, USA), dr. Lotta Granholm (University of Denver, USA), dr. Liz Head (University of Califonia-Irvine, USA), dr. Alain Dekker (University of Groningen, The Netherlands), dr. Juan Fortea and dr. Sebastian Videla (University of Barcelona, Spain). The majority of attendees was in favor of participating in research (even without direct benefit, but benefit for future generations of DS individuals) as long as the aim is clear, the procedure is well-adapted and the approach is respectful. One of the people with DS stated: “I think about my death. I want to donate my brain.” A mother responded by saying that “It is easier to say, than to do. It’s more about emotion [when the moment is there].” Acknowledging that such decisions would best be made in advance by the person with DS and his/her family (advanced directive), it was noted that the audience convincingly demonstrated a pro-research attitude. The panel stressed that collection of blood and tissue samples is indeed of utmost importance. After all, without samples, researchers will not be able to investigate mechanisms and find novel targets for e.g. cognitive deficits and AD in people with DS.
Prof. Jesús Florez (Fundación Iberoamericana Down 21, Spain) addressed the topic of autonomy of people with Down syndrome. He described various circumstances that play a role, and what we should (and should not) expect from autonomy. Florez stressed that autonomy cannot be achieved by an easy, single recipe, but that promoting autonomy requires finding a balance, taking into account someone’s strengths and weaknesses, actual capabilities and physical and emotional vulnerability. It is not only about promoting decision making, but also about teaching people with DS to accept consequences of their decisions. It is a matter of rights ánd responsibilities. For each unique individual, the recipe may be different.
The symposium ended with the inspiring presentation of the Montserrat Trueta Human Rights Assembly from the Catalan Down Syndrome Foundation (Barcelona, Spain). Three prominent members with DS of this Assembly, Andy Trias (president), Montserrat Vilarrasa (secretary) and Ana Rodriguez (responsible of the agenda), enthusiastically presented the work of the Assembly and their own role in this societal initiative.