Enhancing knowledge transfer to parents, carers and professionals of individuals with genetic syndromes via a novel website resource.

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.

This project will benefit individuals with rare genetic syndromes and their families and carers and will be of significant interest to professionals in a range of educational and clinical settings including (among others) Psychologists, Psychiatrists, Teachers, Speech and Language Therapists, Paediatricians, Clinical Geneticists, GPs and Teaching Support Assistants. The combined membership of the family support groups associated with each of the syndromes in this project is nearly 5,000 in the UK and estimated to be 20,000 within Europe. It is reasonable to expect that each individual will be involved with between five and fifteen professionals. In the future, the list of syndromes included within the website will expand.

The proposed website project has the potential to have a significant impact on the health and wellbeing of these individuals and their families. Improving awareness, knowledge and understanding of the behavioural difficulties that are characteristic of individuals with genetic syndromes, through timely dissemination of research findings and improved access to up to date information, will facilitate greater support for families and carers. Such information will empower parents and carers to pursue the provisions that are required for their children and to overcome the barriers that they currently face with regard to accessing services (Emerson et al., 2011). This will ultimately result in improving the psychological wellbeing of parents and carers of affected individuals.

Importantly, the website will provide advice and guidance to professionals regarding how to assess and manage behavioural difficulties appropriately and will provide access to assessment tools, devised by the research team, to support this. Additionally, normative data from our unique and extensive research database will be made available which will enable professionals to identify those individuals who are at risk for severe behaviour disorder or currently showing clinically relevant levels of these difficulties. This information is not immediately available elsewhere.

This project has the potential to have much wider impact on the quality of service provision and the economic cost of supporting individuals with rare genetic syndromes. Improving knowledge and understanding of rare genetic syndromes amongst professionals and providing appropriate tools and guidance to assess these difficulties accurately will enable provision of earlier and more effective prevention, intervention and educational programmes. Crucially, this could help to reduce the need for intervention in the future when problems have escalated, resulting in less frequent need to access health services in the long term. In Cornelia de Lange syndrome (CdLS) for example, our previous reports and materials (e.g. Oliver et al., 2003, 2006, 2009) highlighting the association between gastroesophageal reflux and self-injurious behaviour (SIB) have led to a significant change in the way that SIB in CdLS is perceived by families and professionals. The CdLS Foundation UK and World Organisation now emphasise strongly early intervention for reflux in CdLS and advocate for greater awareness of the role that reflux plays in SIB. We have since noted a significant reduction in the number of individuals with SIB attending clinical consultations at family conferences and our research centre. A similar example is that of the identification of impaired satiety in Prader-Willi syndrome, which has changed the perception of over-eating dramatically and has had significant implications for diet management and obesity related health problems within the syndrome.

The website will provide a structure which has the potential to continue to be developed and extended over time alongside research in this field. It will therefore have long term benefit to individuals with genetic syndromes, their families and the professionals working with them.