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Multicenter Study
. 2022 Feb;107(2):160-165.
doi: 10.1136/archdischild-2020-321451. Epub 2021 Jul 8.

Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Vasantha Lakshmi Gowda  1 , Miguel Fernandez  2 , Manish Prasad  3 , Anne-Marie Childs  4 , Imelda Hughes  5 , Sandya Tirupathi  6 , Christian Gaudentius Engelbert Lourens De Goede  7 , Declan O'Rourke  8 , Deepak Parasuraman  9 , Tracey Willis  10 , Samira Saberian  11 , Ian Davidson  12
Affiliations
Multicenter Study

Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Vasantha Lakshmi Gowda et al. Arch Dis Child. 2022 Feb.

Abstract

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.

Keywords: audit; epidemiology; neuropathology.

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Conflict of interest statement

Competing interests: VLG has received grants from Biogen, PTC Therapeutics, Wave Life Sciences and Catabasis; MF has nothing to disclose; MP has received a grant from PTC Therapeutics; AMC has received fees from PTC Therapeutics in relation to contributions to advisory boards, invited lectures and a presentation; IH has nothing to declare; ST has received conference sponsorship; CGELDG has received grants from PTC Therapeutics; DOR has nothing to declare; DP has nothing to declare; TW has received honorariums for lectures and advisory boards from PTC therapeutics, Biogen, Genzyme Sanofi, Roche, Sarepta and Santhera; SS is an employee of OPEN VIE; ID is employed by PTC Therapeutics.

Figures

Figure 1
Figure 1
Age and diagnostic time periods at key stages in the DMD diagnostic pathway overall and stratified by DMD family history. Mean age (months) and time (months) at key stages in the diagnostic pathway are presented for the overall population and stratified by DMD family history (A–G). CK, creatine kinase; CK-MM, muscle creatine kinase; DMD, Duchenne muscular dystrophy; HCP, healthcare professional.
Figure 2
Figure 2
Symptoms presented by patients overall and stratified by DMD family history. The percentage of patients with motor and non-motor symptoms are presented for the overall population and stratified by DMD family history (A); the type of symptoms experienced in the overall patient population and by subgroup are also presented (B). *Not mutually exclusive because patients may have presented with >1 symptom. DMD, Duchenne muscular dystrophy.
Figure 3
Figure 3
Diagnostic tests performed overall and stratified by DMD family history. The percentage of patients in whom diagnostic tests were performed are presented for the overall population and stratified by DMD family history. *Not mutually exclusive because patients may have presented with >1 symptom. **Includes albumin, alkaline phosphatase, bilirubin, gamma-glutamyl transferase and vitamin D. DMD, Duchenne muscular dystrophy.
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References

    1. Mah JK. Current and emerging treatment strategies for Duchenne muscular dystrophy. Neuropsychiatr Dis Treat 2016;12:1795–807. 10.2147/NDT.S93873 - DOI - PMC - PubMed
    1. Mah JK, Korngut L, Dykeman J, et al. . A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 2014;24:482–91. 10.1016/j.nmd.2014.03.008 - DOI - PubMed
    1. Cavazza M, Kodra Y, Armeni P, et al. . Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe. Eur J Health Econ 2016;17 Suppl 1:19–29. 10.1007/s10198-016-0782-5 - DOI - PubMed
    1. Moat SJ, Bradley DM, Salmon R, et al. . Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet 2013;21:1049–53. 10.1038/ejhg.2012.301 - DOI - PMC - PubMed
    1. nhs.uk . Newborn blood spot test [Internet], 2017. Available: https://www.nhs.uk/conditions/pregnancy-and-baby/newborn-blood-spot-test/ [Accessed 06 Jul 2020].

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