ESRC IAA 2014 - Follow on Fund - A novel KE package for rare genetic syndromes

  • Waite, Jane (Principal Investigator)

Project Details

Description

In this project, our aim is to develop a knowledge exchange (KE) package which incorporates the impact activities that we have previously conducted and combines them into a single process to enable timely dissemination of our ongoing research. This package is particularly relevant to rarer syndrome groups where there are limited or no resources and infrastructure to support such activities. The KE package will be developed for one syndrome, Kleefstra syndrome, to demonstrate proof of principle for the proposed process, with the broader aim of expanding this package to other groups in the future.

The KE package will centre on a family conference organised in partnership with UK based charities Unique (an umbrella organisation providing support to families affected by rare genetic syndromes), Cerebra (an organisation providing support to families of children with disabilities) and with representatives of families affected by Kleefstra syndrome. Web-based resources will also be developed and existing resources updated and expanded. This approach will provide a novel template for effective KE in rare syndromes.

Aims and Objectives
1. We will collaborate with families of children with Kleefstra syndrome, Unique and Cerebra to organise a parent conference where key professionals will provide workshops and consultations.
2. We will disseminate our research on the behavioural phenotype of Kleefstra syndrome at this conference through oral presentations.
3. We will run workshops at the conference to video record parents’ experiences of Kleefstra syndrome and behaviours highlighted in our research. These parent stories will be an important aspect of the accessible web-resources, complementing descriptions of our research findings.
4. We will develop new, accessible written materials on the behavioural characteristics of Kleefstra syndrome, and update information currently available (including Unique’s handbook on Kleefstra syndrome). These will be shared online via www.findresources.co.uk and www.kleefstrasyndrome.org.
5. We will collect questionnaire data at the conference to expand our knowledge.
6. We will conduct an impact evaluation study following the conference and development of resources (see section 5).

35 families from 13 different countries attended the Kleefstra Syndrome Conference 2015 in August 2015, Coventry, West Midlands. Key speakers included Dr Kleefstra, who spoke about how the syndrome was first identified, and Dr Vermeulen who described social skills, communication and sleep problems. Professor Chris Oliver of the Cerebra Centre for Neurodevelopmental Disorders described ‘behaviours that challenge’ in Kleefstra Syndrome(KS), emphasising that self-injury and aggression are not inevitable. Families also heard from Cindy Jo-Morrison an occupational therapist with experience with intellectual disability.

Layman's description

We were awarded an ESRC grant to support a parent conference about Kleefstra syndrome. The purpose of the conference was to spread knowledge of our research about Kleefstra syndrome and give families strategies for managing difficult behaviours. The conference provided an opportunity for collection of research data and parent video accounts of their children to be included on www.findresources.co.uk. We have developed content for this site, which is now under peer review.

Key findings

35 families from 13 different countries attended the Kleefstra Syndrome Conference 2015 in August 2015, Coventry, West Midlands. Key speakers included Dr Kleefstra, who spoke about how the syndrome was first identified, and Dr Vermeulen who described social skills, communication and sleep problems. Professor Chris Oliver of the Cerebra Centre for Neurodevelopmental Disorders described ‘behaviours that challenge’ in Kleefstra Syndrome(KS), emphasising that self-injury and aggression are not inevitable. Families also heard from Cindy Jo-Morrison an occupational therapist with experience with intellectual disability.

Our evaluation of the behavioural presentations and consultations via pre a post measure (Adapted Illness Perception Questionnaire) indicated that parents' felt their knowledge had significantly improved by attending these. This provides proof of principle of the impact of the project for families.

For the rest of the day, parents also had access to clinical consultations, and the opportunity to share their experiences in the family forum. They discussed anxiety, speech, medication, regression and diet in Kleefstra Syndrome.

During the conference, parents were also filmed describing their experiences of having a child with Kleefstra syndrome. Topics included characteristics of autism spectrum disorder, social skills, communication, mood and behaviours that challenge.

We have produced six videos that will be launched with on www.findresources.co.uk in the next six weeks and which are currently being disseminated via the Kleefstra syndrome support group. These videos are of families talking about topics:

https://www.youtube.com/watch?v=eOHeC5axUx8
https://www.youtube.com/watch?v=oWnIWoIvTZg
https://www.youtube.com/watch?v=T7x3_iD-HMg
https://www.youtube.com/watch?v=S2ZTSQ3Khnw
https://www.youtube.com/watch?v=uQ0npNyyr6g
https://www.youtube.com/watch?v=UNVDp_V84qQ

We have produced written content on the behavioural phenotype of Kleefstra syndrome in keeping with the template on www.findresources.co.uk and this content is currently being externally peer reviewed. We feel that this peer review process is essential before completing the launch of the content.





Short titleESRC IAA 2014 - Follow on Fund - A novel KE package for rare genetic syndromes
StatusFinished
Effective start/end date1/07/1431/07/17

Funding

  • Economic & Social Research Council

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