Screening the newborn for Duchenne muscular dystrophy: parents' views.

Firth, Melinda; Wilkinson, Elizabeth J.

doi:10.1136/bmj.286.6382.1933

Cited by 15 publications

(10 citation statements)

References 5 publications

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“…Another study surveyed parents of children with DMD who were diagnosed symptomatically and found that 90% of those who responded were in favor of NBS (Firth, 1983).…”

Section: Specific Aimmentioning

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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“…Another study surveyed parents of children with DMD who were diagnosed symptomatically and found that 90% of those who responded were in favor of NBS (Firth, 1983).…”

Section: Specific Aimmentioning

confidence: 99%

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

et al. 2014

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“…342,359,385,[392][393][394][400][401][402][403] The evidence does not suggest that the emotional impact of the diagnosis or the influence on parent-child relationships is any different when made through screening or based on clinical manifestations. 342 The shock of the diagnosis itself is the greatest precipitator of parental distress.…”

Section: Literature Reviewmentioning

confidence: 99%

Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis

Knowles¹,

Griebsch²,

Dezateux

et al. 2005

Health Technol Assess

215

143

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“…The controversy over newborn screening for DMD is concerned with both the cost effectiveness of such screening and the ethical issues involved in the early diagnosis of a disease for which there is no treatment at present. 72,73 The promising results with myoblast transplantation indicate that therapeutic intervention in DMD may be _ FIGURE 4…”

Section: Deletions and Duplications Detected With The Dmd Cdnasmentioning

confidence: 98%

Review Article: Dystrophin-Related Muscular Dystrophies

Witkowski

1989

J Child Neurol

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The gene for the locus involved in Duchenne and Becker muscular dystrophies has been cloned and subject to intense analysis. The protein product of the locus is called dystrophin, and it has been shown to be associated with the muscle fiber membrane. The new knowledge of the molecular genetics of these disorders is being applied rapidly in clinical practice. Carrier detection and prenatal diagnosis have been revolutionized by the use of probes for the gene. These probes are also being employed to clarify cases where conventional clinical examination results in equivocal diagnoses. It is suggested that the disorders characterized by dystrophin abnormalities should be called dystrophin-related muscular dystrophies (DRMD). There are mouse and dog models for DRMD and these are being used to explore therapeutic strategies for treating DRMD patients.

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Screening the newborn for Duchenne muscular dystrophy: parents' views.

Cited by 15 publications

References 5 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

Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis

Review Article: Dystrophin-Related Muscular Dystrophies

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