title: A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.
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.
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
authors: Siaw H
authors: SH
authors: Wong
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors: Belinda J
authors: BJ
authors: McClaren
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Victorian Clinical Genetics Services, Parkville, VIC, Australia.
authors: Alison Dalton
authors: AD
authors: Archibald
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors: Alice
authors: A
authors: Weeks
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors: Tess
authors: T
authors: Langmaid
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia.
authors: Monique M
authors: MM
authors: Ryan
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia.
authors: Andrew
authors: A
authors: Kornberg
authors: Murdoch Childrens Research Institute, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
authors: Sylvia A
authors: SA
authors: Metcalfe
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001315:Australia; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis / Q000523:psychology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D010290:Parents / Q000523:psychology; D011795:Surveys and Questionnaires; D055815:Young Adult
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