Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Ciafaloni, Emma; Fox, Deborah; Pandya, Shree; Westfield, Christina; Puzhankara, Soman; Romitti, Paul A.; Mathews, Katherine D.; Miller, Timothy M.; Matthews, Dennis J.; Miller, Lisa; Cunniff, Christopher; Druschel, Charlotte M.; Moxley, Richard T.

doi:10.1016/j.jpeds.2009.02.007

Cited by 208 publications

(213 citation statements)

References 24 publications

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“…Glucocorticoid treatment prolongs ambulation and improves quality of life, and the current recommendation is to begin corticosteroid treatment when boys with DMD have stopped gaining motor milestones, but before their motor skills have begun to decline (Mendell, 2012;Bushby, 2010). The average age of diagnosis for DMD is currently 5 years of age (Ciafaloni, 2009), but the loss of motor skills may have already begun before this age. An earlier diagnosis could lead to better medical management for the child (Mendell, 2012).…”

Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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Introduction: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). Methods: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. Results: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. Conclusions: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Muscle Nerve 49: 822–828, 2014

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Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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“…8 Historical studies suggest an average age of diagnosis of DMD of 5 years in the United States and Europe, this figure remaining relatively stable over 26 years. [9][10][11][12][13][14] Age of diagnosis in Australia has not been previously published. Ciafaloni et al 14 observed a 2.5 year delay between parents first noticing symptoms and ultimately receiving a DMD diagnosis for their child.…”

Section: Introductionmentioning

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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“…34 It is evident that the age at diagnosis over time in the UK population has not changed significantly in the last 20 years. 3 The reported incidence of 1:4046 for DMD in Wales for the birth cohort 1971-1986, 35 before the commencement of this screening programme, is higher than the incidence of 1:5136 in the Wales birth cohort 1990-2011. The avoidance of further affected boys in families where the first affected child is diagnosed early is an important consequence of screening, resulting in part from the deferral of future pregnancies when a child is found to have a serious illness and in part from parental decisions to use prenatal diagnostic testing to enable the selective termination of affected pregnancies.…”

Section: Discussionmentioning

confidence: 83%

“…1 The mean age for diagnosis has remained unchanged over many years at 4.5-5.5 years. [2][3][4][5] It is frequently reported that parents had sought medical advice before this (mean delay from presentation to diagnosis is about 2 years), 3 resulting in diagnostic delay and causing considerable anxiety and distress. 6,7 The development of blood spot CK assays gave the potential for newborn boys to be screened for DMD.…”

Section: Introductionmentioning

confidence: 99%

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

et al. 2013

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Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis is made in an index case. An 'opt in' screening programme was introduced in Wales in 1990 with the aim to: reduce the diagnostic delay, permit reproductive choice and allow planning of the care of the affected boy. Newborn bloodspots were collected routinely as part of the Wales newborn screening programme. Specific consent was obtained for this test separately from the other tests. During the 21-year period, 369 780 bloodspot cards were received from male infants, of these 343 170 (92.8%) were screened using a bloodspot creatine kinase (CK) assay following parental consent. A total of 145 cases had a raised CK activity (Z250 U/l) and at follow-up, at 6-8 weeks of age, 79 cases had a normal serum CK (false-positive rate 0.023%) and 66 cases had an elevated serum CK. DMD was confirmed in 56 cases by genotyping/muscle biopsy studies, Becker muscular dystrophy in 5 cases and other rarer forms of muscular dystrophy in 5 cases. This long-term study has so far identified 13 false-negative cases. The incidence of DMD in Wales of 1:5136 during this period is lower than that of 1:4046 before commencement of screening in Wales. Screening has reduced the diagnostic delay enabling reproductive choice for parents of affected boys and earlier administration of current therapies.

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Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Cited by 208 publications

References 24 publications

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

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

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

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