Session 2: Research Priorities and Opportunities
Shape Research, Change Lives: Setting priorities in genetic syndrome research
Authors: Dr Laura Cristescu1, Prof Liz Pellicano2, Prof Gaia Scerif3, Prof Jo van Herwegen2, Prof Emily Farran1
- University of Surrey
- University College London
- University of Oxford, UK
Email address of first author: l.cristescu@surrey.ac.uk
Background: Thousands of people with a genetic syndrome currently live in the UK, yet research priorities are very rarely shaped by individuals with genetic syndrome themselves. This project begins to address this unmet need. We focus on the following three genetic syndromes: Down Syndrome (DS), Fragile X Syndrome (FXS) and Williams Syndrome (WS). The aim of the project is to understand the priorities of the UK DS, FXS and WS communities and how they compare to the current research landscape. We will disseminate our findings to funders and policy makers, such that, in time, our findings can contribute to improved outcomes for individuals with genetic syndromes. This paper will focus on the findings specific to the DS community.
Research questions:
- How much research on DS currently exists and what does it focus upon?
- What are the research priorities of the DS community and how does this align to the research identified in (1)?
Method: We conducted a review of published literature and research funding on DS in the UK in the last 10 years, which we categorised into 10 research topics. We consulted with the DS community on their research priorities via online focus groups and surveys. This included a range of stakeholders: children, adolescents, adults with DS parent/carers, practitioners and researchers.
Results: Preliminary findings indicate a mismatch between the research topics that have received most funding and research attention in the last decade compared to the priorities of the DS community. Most DS research in the UK focused on co-occurring conditions (including Alzheimer's), diagnostic tools and cognition. Research from our community survey is ongoing; based on our focus group findings, there is an indication that the DS community would like to see a shift in research agendas, with more attention given to research with practical implications to daily life, improved access to services and increased societal awareness.
Conclusion: A closer collaboration between the DS community, researchers, funders and policymakers is needed to ensure priorities are aligned and research is having an impact on improving lives.
Perspectives of Neurodivergent Adults on Research
Aunnika D. Short1, Yizhen Wu1, Alexandra Hendry1, Gaia Scerif1
- Department of Experimental Psychology, University of Oxford
Email address: aunnika.short@psy.ox.ac.uk
Background: Historically, research about people with neurodevelopmental disabilities has excluded the interests of these respective communities in favour of our own academic interests. As community voices (Goodley, 2005) and self-advocacy (Campbell & Oliver, 1996; Goodley, 2000) have become more amplified in recent years, this study aims to ask neurodivergent individuals directly to promote a more collaborative research environment for years to come.
Research questions: Our research questions sought to identify themes that emerged when we asked about people's experiences with interventions, their perspectives on inclusion, accessibility, research so far, and their hopes for research to be conducted in the future.
Methods: An online survey comprising 16 questions was disseminated through community organisations, national charities, and local support groups to autistic adults, adults with Down syndrome, or ADHD. Fifty participants responded to our survey, at which point the survey was closed and coding conducted qualitatively using both framework analysis and reflexive thematic analysis.
Results: With respect to life experiences, the following themes were identified: misdiagnosis or being undiagnosed for most of their life, insufficient and invalidating care and support, experiencing social stigma at a systematic and individual level. Perspectives on current research highlighted that research was deemed largely inaccessible, unrelated to the interests of people with NDD and invalidating of neurodiversity. Goals for future research broadly included direct collaboration with neurodiverse individuals, investigating adults with NDD rather than just children, and ensuring findings are both applicable and accessible. Conclusion: Given the community feedback, we need to ensure that as researchers, we are actively seeking the input of the people whom our research concerns throughout the experimental process. Additionally, future research would benefit from incorporating a lifespan perspective that provides insights and support into adulthood. From a support level, individuals would benefit from earlier diagnosis and neurodiversity-affirming care rather than behavioural interventions that invalidate their identities.
References
- Campbell, J., & Oliver, M. (1996). Disability Politics: Understanding our Past, Changing our Future. London: Routledge.
- Goodley, D. (2000). Self-Advocacy in the Lives of People with Learning Difficulties: The Politics of Resilience, Buckingham: Open University Press
- Goodley, D. (2005). Empowerment, self-advocacy, and resilience, Journal of Intellectual Disabilities, 9(4), 334-343. https://dx.doi.org/10.1177/1744629505059267
From observations to advice: putting research into practice and bringing practice into research – at global scale.
Frank Buckley, Angela Byrne, Sue Buckley, Down Syndrome Education International, Cumbria, UK
A fundamental challenge for individuals and organisations hoping to contribute to meaningful and lasting improvements in the lives of young people with Down syndrome is how to provide families and professionals with timely, relevant, and actionable advice, informed by the latest available evidence.
Very little advice can be both simply stated and broadly applicable. Much depends on current levels of development across multiple domains – a challenge compounded by wide variability in rates of progress among children with Down syndrome. Traditionally, advice providers have documented interventions in written guides and handbooks, perhaps accompanied with videos and presentations. In general, this approach leaves it to families and educators to work out how to apply advice appropriately for each child. Our experience indicates that this is often insufficient to ensure consistent and successful implementation in practice.
Meanwhile, there is a lack of current data to better inform guidance, or to evaluate and evolve interventions over time, or to explore the consequences of social, economic, cultural or policy differences across populations. Much of the available data involves small samples with narrow recruitment criteria and is increasingly dated.
In this presentation, we report on systems that we have developed to collect observations, to generate personalised advice and guidance, and to build datasets on many aspects of development. We will describe how these systems can collect observations from many sources, including family/educator input via web sites or apps, or more automated data collection within apps. We will also describe how we are developing models of speech and language to generate highly specific guidance about appropriate target vocabulary and grammar, speech sounds and speech patterns, helped by recent advances in computational linguistics and machine learning. We will discuss how predetermined advice algorithms might be augmented with reinforcement learning approaches to be more responsive and self-optimising, and how these approaches might be evaluated and monitored. We will outline our plans and explore how families, organisations, professionals, and researchers can collaborate to help evolve, extend, and utilise these systems to deliver more individualised and better targeted support for young people with Down syndrome everywhere.
