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A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. | LitMetric

AI Article Synopsis

  • - The study examines the ongoing issue of delayed diagnosis of Duchenne muscular dystrophy (DMD) in Australia, highlighting that the median age at diagnosis is around 5 years, which has not significantly improved over time.
  • - Interviews and surveys with parents revealed that there is often a delay of several months to years between initial concerns about their child’s development and the eventual diagnosis, with many parents expressing frustration about the wait.
  • - The research indicates that despite advances in testing and increasing awareness, many parents still believe their child could have been diagnosed earlier, showing the negative emotional impact on families and potential risks for subsequent children.

Article Abstract

The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n=49 during 2005-2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child's development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children's treatment.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592094PMC
http://dx.doi.org/10.1038/ejhg.2014.301DOI Listing

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