Prediagnosis pathway benchmarking audit 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 Patients 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. General paediatricians are getting better at diagnosing DMD but need to be aware of the more subtle symptoms of DMD and diagnose it earlier be aware of the rarer presentations.

Automated summary

The research describes the pre-diagnosis pathway of Duchenne Muscular Dystrophy patients at key stages and identifies opportunities for service improvement. The majority of the data mirrored the benchmark audit, but there was a presentational delay observed, indicating a lack of early symptom recognition as a contributing factor.