Title: Enhancing knowledge transfer to parents, carers and professionals of individuals with genetic syndromes via a novel website resource.
Funder: Economic and Social Research Council

Abstract: Approximately 1,000 genetic disorders can cause neurodevelopmental disabilities that are associated with physical, cognitive and behavioural problems The two most common, Down and Fragile X syndromes, are seen in only 1 in 700 and 1 in 5,000 births. For many other syndromes the prevalence is much lower. The rarity of these syndromes hampers research and means that health and education professionals may have little or no experience of assessing and providing for syndrome specific needs. In turn, parents may not receive advice or information that is matched to their child's unusual combination of physical and psychological needs and abilities. Tailored interventions will rarely be available. Although individually each syndrome is rare, the total number of individuals with any syndrome for which specific advice and intervention is needed is large. Over the last ten years we have developed strong links with family support charities for individuals with genetic syndromes. We have conducted over 40 research studies to evaluate the clinically significant characteristics of seventeen rare genetic syndromes. This has enabled us to develop a large and unique database of information regarding this population. We have produced a number of accessible resources for parents and carers including individual feedback reports, newsletter articles, special reports, books and DVDS and disseminated these via the support groups. Our sustained contact with these groups and our research has revealed that the lack of knowledge and awareness of rare genetic syndromes is a major concern for parents and carers. They describe frustration at the expectation that they are the 'expert', of having to repeatedly inform others about the needs of their child and of having to 'fight' for appropriate support. It is perhaps not surprising that there are significantly elevated levels of anxiety and depression among parents of children with genetic syndromes. In this project we will develop, pilot and evaluate the impact of a website resource for parents, carers and professionals caring for or working with individuals with rare genetic syndromes. The website will not replicate information that is already available elsewhere. The focus will be on efficient dissemination of research findings from our research team, and that of other researchers in the field, in an accessible format. The website will have four functions: 1.To inform parents, carers and professionals of our research findings, and other published research, in an accessible, interactive way including case study materials, video clips and parental accounts. This will enhance knowledge, understanding and awareness of the needs of individuals with rare genetic syndromes. 2.To provide advice and guidance to professionals on how to assess behavioural difficulties. We will provide access to assessment measures developed by our research team for this population and associated normative data from our extensive database. This will enable professionals to identify individuals showing clinically significant levels of behaviour. Information regarding appropriate interventions for behavioural difficulties will also be made available. 3.To provide accessible online consultancy, through access to our database (in a way that protects anonymity) in which the user can ask questions of the data about a particular syndrome group regarding expected behavioural or other difficulties at specific ages. 4.To develop a sustainable resource that can continue to be developed and expanded. Potential users will participate in the development of the website in order to ensure that the content is relevant, accessible and appropriate. We will pilot the website at workshops and users will evaluate the user friendliness and content. Following the launch of the website, we will evaluate its impact using surveys to assess users' knowledge and understanding and their confidence in managing particular aspects of the syndrome.


Research activity codes: 7.1 INDIVIDUAL CARE NEEDS;7.3 MANAGEMENT AND DECISION MAKING
Health categories: CONGENITAL DISORDERS