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Down Syndrome Cognition Research: A Mother's Perspective


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This webinar offered a mother’s perspective on Down syndrome cognition research, featuring a pioneer in the field of education for children with DS, founder of Down Syndrome Education International, …

This webinar offered a mother’s perspective on Down syndrome cognition research, featuring a pioneer in the field of education for children with DS, founder of Down Syndrome Education International, and parent of a child with DS: Professor Sue Buckley, OBE. In her talk, Sue spoke pragmatically about the challenges and concerns research presents, noting the need to proceed thoughtfully and cautiously — a stance DSRTF shares and keeps at the forefront of our efforts. But she also encouraged families to get involved in research; likened pharmaceutical treatments to speech and memory therapies, all of which share the goal of improving brain function; and asked the audience to consider the question, “If safe and effective, shouldn’t any therapy that improves life for people with DS be welcome?”

Sue was joined on the panel by Suzanne Shepherd, a DSRTF supporter and co-president of the Down Syndrome Association of Central Texas, who talked about why she believes in research: “Outcomes today for people with Down syndrome are miles ahead of what they were 20-30 years ago,” she said, “thanks to good medical care, therapies, and improved educational practices. Imagine the strides our sons and daughters will make when cognitive therapies are added to that mix — that's the power and promise of Down syndrome cognitive research.”

DSRTF board member Margie Doyle also took part, sharing her mission as a mother: “As a mom to five children, it’s always been a priority for me to try and minimize the challenges for each child so that they might achieve their personal potential,” she said. “It is no different for my son with Down syndrome. The complexities that result from DS are obstacles to be addressed and minimized, as best as possible, so that Colin attains his full personal potential.”

Did you miss the webinar? You can listen to the session now, or download the presentation slides. Our sincere thanks to Sue, Suzanne, and Margie for sharing your time and your passion for building a better future for people with DS.

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  • 1. Down Syndrome Cognition Research:A Mother’s PerspectiveProfessor Sue Buckley, OBEFriday, May 31, 2013Suzanne ShepherdPresident, DSACTCarolyn CroninExecutive Director, DSRTFMargie DoyleSecretary, DSRTF Board Member
  • 2. Down Syndrome Research andTreatment FoundationAgenda• Welcome• Overview of DSRTF• Introduction: Professor Sue Buckley• Presentation: DS Cognition Research: A Mother’sPerspective• Q & A• Introduction – Suzanne Shepherd & Margie Doyle
  • 3. Down Syndrome Research andTreatment Foundation• Stimulate and fund cognition research toimprove learning, memory, and speechfor individuals with Down syndrome• Translation of research to delivertreatments to allow individuals to:• Participate more successfully in school• Lead more active and independent lives• Prevent or delay early cognitive declineDown Syndrome Research andTreatment Foundation’s Mission
  • 4. Down Syndrome Research andTreatment FoundationWhy Cognition Research?•Cognitive challenges present throughout life•Generally, mild to moderate cognitiveimpairment•Significant presence of neuropathology ofAlzheimer’s disease by the age of 40
  • 5. Down Syndrome Research andTreatment FoundationFOCUSPioneer in stimulating cognition researchRESOURCESLeaders in funding and executing Ds-specific research strategyCOLLABORATIONInterdisciplinary coordination and communicationTRANSLATIONAccelerate the move from research to treatmentsDSRTF Strategy
  • 6. Down Syndrome Research andTreatment FoundationDown Syndrome Research: 2003• No evidence of what causes impaired cognitionin people with Down syndrome• No targets on which to focus efforts• Minimal government funding• Few researchers focused on DS cognition
  • 7. Down Syndrome Research andTreatment FoundationResearch Results• Eight “drug targets”• Areas of the brain that work differently —“mechanisms”• Three candidate drugs — and more work inthis area• Two clinical trials — and investment in testsfor efficacy
  • 8. Down Syndrome Research andTreatment FoundationFederal Funding is Not EnoughNumber of Individuals affected in the U.S.
  • 9. Copyright © Down Syndrome Education International
  • 10. Copyright © Down Syndrome Education International 10Improving cognition forindividuals with DownsyndromeProfessor Sue Buckley OBEDirector of Research, Down Syndrome EducationInternational and Down Syndrome Education USAEmeritus Professor of Developmental Disability,University of Portsmouth, UK
  • 11. Copyright © Down Syndrome Education InternationalMy background11▪ Active as a psychologist in Downsyndrome research for over 30years▪ Adopted daughter with Downsyndrome in 1971 (now aged 43)▪ Focused on development, cognitionand learning for children and youngpeople with Down syndrome▪ Huge progress in understanding thelearning profile and effectiveness ofearly intervention and education▪ Now possibly on verge of ‘drugs’that may improve memory andcognitive function
  • 12. Copyright © Down Syndrome Education InternationalRecent advances in biomedical research▪ Identification of compounds that may act onparts of the brain in ways that could improvemental function▪ Not a radical departure from past research –more the natural progression of the sciencein many fields▪ But, pharmaceutical therapies largelyuntried and limited human studies to dateare not encouraging▪ Important ethical and safety concerns12
  • 13. Copyright © Down Syndrome Education InternationalHistory of Down syndrome research▪ Progressed alongside and in response to moregeneral scientific advances since the mid-19thcentury▪ 1866 – John Langdon Down first published adescription of the condition▪ 1959 – Additional copy of chromosome 21identified as cause▪ Discovery of antibiotics in 1929 and theinvention of open heart surgery in 1953▪ Healthcare guidelines from 198113Down syndrome human karyotype 47,XY,+21 by Wessex Regional Genetics Centre / Wellcome Images
  • 14. Copyright © Down Syndrome Education InternationalHistory of Down syndrome research▪ From 1980, increasingly detailed understandingof developmental delays and cognitive difficulties▪ 1990 – Viable mouse with additional copies ofgenes similar to those on human chromosome 21▪ 2000 – Human chromosome 21 sequencepublished▪ 2007 – Mouse study shows pharmaceuticalcompounds can improve learning and memory▪ 2012 – First controlled trial of targetededucational intervention published14
  • 15. Copyright © Down Syndrome Education InternationalBenefits for people with Down syndrome15
  • 16. Copyright © Down Syndrome Education InternationalBenefits for people with Down syndrome▪ Antibiotics, heart surgery and specialised medicalcare guidelines have dramatically improved earlysurvival and longevity▪ Evidence-based therapies and educationalapproaches are helping young people with Downsyndrome today achieve more than ever before▪ Medical and educational advances havedepended on evidence and social change (accessto treatments, deinstitutionalisation, earlyintervention, educational and social inclusion)16
  • 17. Copyright © Down Syndrome Education InternationalRecent advances▪ Compounds targeting neurotransmission inspecific parts of the brain▪ Evidence suggests they might alleviate problemsthought to be involved in some of the learningdifficulties associated with Down syndrome▪ However, until now most studies with mice.▪ Until we test the compounds with humans withDown syndrome we cannot tell if they will havean effect, nor precisely what the effect will be17
  • 18. Copyright © Down Syndrome Education InternationalEthics▪ Are pharmaceutical therapies for learning justified? Dopeople with Down syndrome want to be “cured”?▪ Not a cure.▪ May “treat” aspects of the condition (in a physiologicalsense). Really a therapy.▪ Speech therapy aims to change brain function as doesmemory training. Pharmaceutical therapies aim tochange brain function.▪ If safe and effective, should not any therapy thatimproves life for people with Down syndrome bewelcome?18
  • 19. Copyright © Down Syndrome Education InternationalChallenges▪ Ts65Dn mice are not humans with Downsyndrome: just because a treatment works ina mouse, does not mean it will work in people▪ The few pharmaceutical therapies that haveto date been evaluated in humans have nothad promising results – e.g. memantine,cholinesterase inhibitors▪ Efforts to normalise neurological function inone part of the brain could affect other parts▪ Pharmaceutical therapies may have seriousside effects19
  • 20. Copyright © Down Syndrome Education InternationalEvaluating therapies▪ Trials will take time – many years▪ Trials will require extensive internationalcollaboration▪ Substantial challenges involved in developingassessments that are reliable and sensitiveenough to demonstrate treatment effects▪ Outcome measures must relate to real worldquality of life improvements▪ The Down syndrome community must beinvolved in setting these goals20
  • 21. Copyright © Down Syndrome Education InternationalEvaluating therapies▪ Learning outcomes are influenced by thetype, intensity and the quality of thetherapies and education provided▪ Pharmaceutical trials will need to take theseissues into account▪ Pharmaceutical therapies may be lesseffective than developmental interventionsor more effective when combined (perhapsmore so during specific periods ofdevelopment)▪ They may not work for everyone – variability▪ Need large sample sizes - costs21
  • 22. Copyright © Down Syndrome Education InternationalThe international Down syndrome community▪ Crucial role in providing clear andbalanced information about this researchto families and people with Downsyndrome▪ Support recruitment▪ Responsibility to provide accurateinformation, and to be cautious aboutthe eventual benefits that this researchmay bring▪ Need a real team effort with researchers,clinicians, people with Down syndromeand their families working together22
  • 23. Copyright © Down Syndrome Education InternationalNot a panacea▪ If a pharmaceutical therapy enhances cognition it will notteach a child to talk or to read or to count▪ It may make the learning of these things easier but ourchildren will still need to be taught▪ Almost certainly still with approaches developed for them▪ Better targeted as we learn more about how Down syndromeeffects learning▪ Educational and developmental research urgently needs betterfunding▪ It will return quality of life improvements in 5 year turn around23
  • 24. Copyright © Down Syndrome Education InternationalStudies ready to go…just need funds▪ Improving literacy and language teaching in US schools –building on the first RCT of an educational intervention forchildren with Down syndrome▪ Intervention to improve speech clarity – building on pilot data▪ Intervention to improve working memory function – buildingon small RCT just completed▪ It is not either drugs or education – it will always be both andas a community we need to see a balance in funding24
  • 25. Copyright © Down Syndrome Education InternationalThanks▪ Roche for inviting me to be involved in their work▪ Frank Buckley – for contribution to this presentation▪ Ben Sacks – for keeping me up to speed on the neuroscienceover many years▪ Roberta Buckley and Mark Wade▪ All the individuals with Down syndrome, their families, thepractitioners, colleagues and researchers from whom I havelearned over many years25
  • 26. Copyright © Down Syndrome Education InternationalReferences to RLI and Cogmed studies▪ Burgoyne, K., Duff, F., Clarke, P., Buckley, S., Snowling, M. & Hulme, C. (2012). Efficacyof a reading and language intervention for children with Down syndrome: arandomized controlled trial. Journal of Child Psychology and Psychiatry▪ Burgoyne, K., Duff, F., Snowling, M., Buckley, S. & Hulme, C. (in press). Trainingphoneme blending skills in children with Down syndrome. Child Language Teaching andTherapy.▪  See While theHandbook is intended to provide all the information needed to implement theintervention, we are continuing to support the roll-out in schools with training, webseminars and blog▪ Bennett, S.J., Buckley, S.J., Holmes, J. Evaluating working memory training for childrenwith Down syndrome. (in press). American Journal on Intellectual and DevelopmentalDisabilities
  • 27. Copyright © Down Syndrome Education InternationalDiscussion▪ Comments?▪ Questions?27
  • 28. Down Syndrome Research andTreatment FoundationSuzanne ShepherdDSRTF Supporter and Co-President of the DownSyndrome Association of Central Texas“Outcomes today for people withDown syndrome are miles aheadof what they were 20-30 yearsago, thanks to good medicalcare, therapies, and improvededucational practices. Imaginethe strides our sons anddaughters will make whencognitive therapies are added tothat mix — thats the power andpromise of Down syndromecognitive research.”Suzanne with her son Jack, age 15
  • 29. Down Syndrome Research andTreatment FoundationMargie DoyleDSRTF Board Member“As a mom to five children, it’salways been a priority for me totry and minimize the challengesfor each child so that they mightachieve their personal potential.It is no different for my son withDown syndrome. Thecomplexities that result from DSare obstacles to be addressedand minimized, as best aspossible, so that Colin attains hisfull personal potential.” Margie with her son Colin, age 4
  • 30. Down Syndrome Research andTreatment FoundationWays You Can Help• Increase awareness of DSRTF and the promise andprogress of cognitive research• Tell us how we can provide additional value andinformation• Participate online and invite others to join to continue togrow the DSRTF/plus15 community• Invite us to share our mission with other groups withwhom you are affiliated• Increase the funding we can make available for research:1:1 match