The Smith-Magenis Syndrome (SMS) Foundation UK is pleased to announce the commencement of a study to provide a definitive demographic profile of syndrome diagnosis across the UK.
This is to assist the charity in:
- Establishing the actual diagnosed population with Smith-Magenis syndrome. Incident rate is estimated at 1 in 15-25,000, which would suggest up to 4,500 people in the UK have SMS. Our membership database has identified just over 300 individuals in the UK.
- Scoping the potential size for a patient registry
- Identifying geographical areas for support services and activities
- Creating information and guidance appropriate for newly diagnosed families relevant to the age when diagnosed
- Provision of training, seminars and symposiums for professionals and families
Developing a profile of diagnosis of Smith-Magenis syndrome across the UK, by area and age, will assist with planning of support services and activities.
Knowing at what age diagnosis occurs will assist with appropriate support and information to newly diagnosed families.
The study should also identify the crossover of registration between genetic laboratories, health authorities and local authorities (education and care).
Nigel Over, CEO says,
“The Foundation is delighted to welcome two University of Keele Students to the project. Natasha Craven (Biomedical Science) and Xheni Prebibaj (Neuroscience) will focus on this study over the summer, gathering and analysing the data that is held by health authorities and local government. This is an ambitious project and as far as we can ascertain is the first time that such a study has been attempted. This is a vital piece of work for us as well as providing a learning and development opportunity for Xheni and Natasha.”Nigel Over, CEO
As part of the overall experience, Natasha and Xheni are to be invited to present their findings at the next UK SMS Conference planned for Spring 2021.