The aim of this study is 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
By developing a profile of diagnosis of Smith-Magenis syndrome across the UK, by area and age, we can plan our support services and activities.
Knowing at what age diagnosis occurs will assist us 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).
SMS family face continued distress due to Covid-19 restrictions in care home