Diagnosis of Duchenne muscular dystrophy: experiences of parents of sufferers.

Firth, Melinda

doi:10.1136/bmj.286.6366.700

Cited by 42 publications

(49 citation statements)

References 6 publications

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“…15,17 Other studies have also shown that delays in DMD diagnoses are frustrating and stressful for parents particularly when they are given false reassurance and/or alternate/incorrect diagnoses. 9,23,24 Indeed, these experiences have been mirrored by parents of children with a range of other genetic conditions including fragile X syndrome (FXS), 25 Klinefelter syndrome 26 and childhood spinal muscular atrophy (SMA). 27 Diagnostic delay in DMD, and other genetic conditions, may occur for several reasons.…”

Section: Discussionmentioning

confidence: 99%

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

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

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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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Section: Discussionmentioning

confidence: 99%

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

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

View full text Add to dashboard Cite

show abstract

“…At least 20% of cases of developmental delay have known genetic causes, for example, chromosomal abnormalities and single gene disorders, such as fragile X syndrome (FXS), Duchenne muscular dystrophy (DMD) and other dystrophies such as spinal muscular atrophy (SMA). In the case of FXS 2 and DMD, 3,4 there is evidence that parents may undergo a protracted journey before a diagnosis is made, with associated negative impacts on the families and lost opportunities for earlier intervention and reproductive decision-making.…”

Section: Introductionmentioning

confidence: 99%

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

et al. 2014

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“…Families living with DMD and those at risk for familial ALS found genetic information confusing and felt that they did not receive appropriate information or follow-up with healthcare professionals (Fanos et al, 2004;Firth, 1983;. Similarly, a group of 48 women at risk for being carriers of the DMD gene expressed uncertainty when trying to articulate and make sense of the statistical probability of their carrier status (Parsons & Clarke, 1993).…”

Section: Geneticsmentioning

confidence: 91%

A Literature Review of Studies Using Qualitative Research to Explore Chronic Neuromuscular Disease

LaDonna

2011

Journal of Neuroscience Nursing

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Although most neuromuscular disease research articles reflect traditional quantitative approaches, qualitative methods are becoming more prevalent in the neuromuscular literature. Arguably, qualitative research provides rich data that may be used to generate patient-centered outcome measures or influence current standards of care. The purpose of this article is to explore the qualitative literature pertaining to individuals and families living with chronic neuromuscular disease in order to suggest implications for practice. Fifty-six qualitative articles addressing seven research themes including Illness Experience; Work, Recreation, and Services; Assisted Ventilation; Caregiving; Genetics; Communication and Information Seeking; and Palliative Care were identified.

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Diagnosis of Duchenne muscular dystrophy: experiences of parents of sufferers.

Cited by 42 publications

References 6 publications

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

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

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

A Literature Review of Studies Using Qualitative Research to Explore Chronic Neuromuscular Disease

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