P.208Improving Recognition of Spinal Muscular Atrophy: a Retrospective Case Note Review

The last few years have seen great advances in the treatment for spinal muscular atrophy (SMA) and new potential therapeutic approaches, including gene therapy, look promising. There is now clear evidence that early treatments are associated with better long-term clinical outcomes, highlighting the importance of an early genetic diagnosis. We reviewed the diagnostic pathway of SMA type 1 in the two main sites of the national MRC Centres for Neuromuscular Diseases (London and Newcastle), in order to identify any delay in the diagnosis and suggest areas for improvement to optimise patient's access to standards of care and novel therapies. We conducted a retrospective case note review of patients with SMA type 1 (Type 1A, 1B and 1C), diagnosed in the two participating centres over the last 10 years. The following data were collected: age at first presentation with typical features (divided into presentation at birth; 0 to 3 months, 3-6 months, and over 6 months of age); age at genetic diagnosis and diagnostic delay between first presentation and diagnosis. Over the study period, 85 babies were diagnosed with SMA type 1 in the two centres. Age at presentation was as followed: at birth (n=10), 0-3 months (n=46), 3-6 months (n=28) and over 6 months of age (n=1). Mean age at genetic diagnosis was 153 days (5 months and 2 days old). Conclusion: This retrospective case note review shows that the diagnosis of SMA type 1 remains delayed, limiting access to new therapies and clinical trials. Newborn screening for SMA is a hot topic and has been recently recommended in the United States and is already available in some European countries, but in the mean time disease awareness and education on the early clinical features are a priority in order to speed up diagnosis for the current generation of patients.