ArticleEuropean journal of human genetics : EJHG2015
A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Development and Validation of a Novel, Disease-Specific, Caregiver-Reported Outcome Measure: The Duchenne Muscular Dystrophy Caregiver Reported-Health Index (DMDCR-HI).Muscle & nerve · 2026Article
- Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD.Muscles (Basel, Switzerland) · 2026Review
- Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.Healthcare (Basel, Switzerland) · 2026Article
- Dystrophin/mini-dystrophin expression analysis by immunoaffinity liquid chromatography-tandem mass spectrometry after gene therapy for DMD.Gene therapy · 2025Article
- Using mixed methods for genetic counseling research.Journal of genetic counseling · 2025Article
- Article
- Quality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.Orphanet journal of rare diseases · 2024Article
- Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels.Children (Basel, Switzerland) · 2024Article
- Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care.Orphanet journal of rare diseases · 2024Article
- Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.International journal of neonatal screening · 2024Article
- Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment.Frontiers in neurology · 2024Article
- Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.Scientific reports · 2023Article
- Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany.Scientific reports · 2023Article
- Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2023Review
- Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.Archives of disease in childhood · 2022Article
- Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis.PloS one · 2022Review
- Article
- Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy.Orphanet journal of rare diseases · 2021Article
- Micro-dystrophin Gene Therapy Partially Enhances Exercise Capacity in Older AdultMolecular therapy. Methods & clinical development · 2020Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
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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