A benchmarking audit of the pre-diagnosis pathway in patients with Duchenne Muscular Dystrophy

Objective

To describe age and time at key stages in the Duchenne muscular dystrophy (DMD) prediagnosis pathway at selected centres to identify opportunities for service improvement.

Design

A multicentre retrospective national audit.

Setting

Nine tertiary neuromuscular centres across the UK and Ireland. A prior single-centre UK audit of 20 patients with no DMD family history provided benchmark criteria.

Patients

atients with a definitive diagnosis of DMD documented within 3 years prior to December 2018 (n=122).

Main outcome measures

Mean age (months) at four key stages in the DMD diagnostic pathway and mean time (months) of presentational and diagnostic delay, and time from first reported symptoms to definitive diagnosis. Type of symptoms was also recorded.

Results

Overall, mean age at definitive diagnosis, age at first engagement with healthcare professional (HCP) and age at first reported symptoms were 53.9±29.7, 49.9±28.9 and 36.4±26.8 months, respectively. The presentational delay and time to diagnosis were 21.1 (±21.1) and 4.6 (±7.9) months, respectively. The mean time from first reported symptoms to definitive diagnosis was 24.2±20.9. The percentages of patients with motor and/or non-motor symptoms recorded were 88% (n=106/121) and 47% (n=57/121), respectively.

Conclusions

Majority of data mirrored the benchmark audit. However, while the time to diagnosis was shorter, a presentational delay was observed. Failure to recognise early symptoms of DMD could be a contributing factor and represents an unmet need in the diagnosis pathway. Methods determining how to improve this need to be explored.

Authors V Gowda, M Fernandez, M Prasad, AM Childs, I Hughes, S Tirupathi, C De Goede, D O’Rourke, D Parasuraman, T Willis, S Saberian, I Davidson

Journal European Journal of Neurology

Therapeutic Area Rare disease, Rheumatology

Center of Excellence Real-world Evidence & Data Analytics

Year 2021

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