Dataset Information

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

ABSTRACT: Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods. Infant males who attended a 12-month routine well-child visit at a participating pediatric clinic were screened for DMD. Parents and providers completed post-screening questionnaires to assess their experiences with and attitudes toward screening. Results. A total of 264 male infants were screened for DMD. Approximately 78% of parents indicated support of voluntary DMD screening and 91% of providers were in favor of screening for DMD. About 75% of parents correctly answered three of five questions testing their knowledge of DMD screening. Conclusion. DMD screening is feasible in a pediatric office when conducted as part of a research study. Infant screening for DMD eventually could be offered in pediatric health care provider offices as an optional public health service outside of newborn screening.

SUBMITTER: Cyrus A

PROVIDER: S-EPMC3392140 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

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Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

Cyrus Alissa A Street Natalie N Quary Sharon S Kable Julie J Kenneson Aileen A Fernhoff Paul P

PLoS currents 20120502

Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods. Infant males who attended a 12-month routine well-child visit at a participating pediatric clinic were screened for DMD. Parents and providers completed post-screening questionnaires to assess their experiences with and attitudes toward screening. Results. A total ...[more]

PMID: 22866242

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Project description:BackgroundThe rapidly evolving clinical landscape of Duchenne muscular dystrophy (DMD) is driving innovative approaches for early diagnosis through genomic newborn bloodspot screening (NBS). However, the potential impact of these programs on families and healthcare systems remains unexplored. This study assessed the perceived benefits, harms, barriers, and enablers for DMD NBS amongst primary caregivers of children with DMD and healthcare professionals (HCPs).MethodsThis Australian multi-centre cross-sectional study used a mixed-methods convergent methodology. Participants completed a codeveloped questionnaire and their perceptions on the utility, model of care, and processes of DMD NBS were thematically analysed.FindingsParticipants included 50 caregivers and 26 HCPs (68.5% and 53.1% response rate respectively). Most caregivers (40/50, 80%) perceived net benefits of DMD NBS and highlighted an early diagnosis as actionable knowledge, even with the current paucity of disease modifying therapies. This knowledge was valued to enable access to multidisciplinary supportive care (29/50, 58%), clinical trials (27/50, 54%), psychological support (28/50, 56%), inform reproductive planning (27/50, 54%), and facilitate financial planning based on the future needs of their child (27/50, 54%). Whilst HCPs acknowledged these opportunities, only 16/26 (61.5%) believed there were definite net benefits, with notable concerns over the psychological harms of diagnostic knowledge without a recourse to disease modifying therapeutic intervention early in life.InterpretationCaregivers and HCPs perceived a range of potential benefits of DMD NBS. Health system readiness will be founded on developing an integrated model of care that not only supports the psychosocial and information needs of families receiving a newborn diagnosis of DMD, but also provides care and clinical surveillance for individuals for whom a diagnosis may remain uncertain.FundingMedical Research Futures fund (GNT2017165, MRF2015965).

Project description:Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fact that there is still no cure for these serious diseases, unprecedented advances are being made for the development of therapies for DMD. Some of which are already conditionally approved: exon skipping and premature stop codon read-through. The present work aimed to characterize the mutational spectrum of DMD in an Argentinian cohort, to identify candidates for available pharmacogenetic treatments and finally, to conduct a comparative analysis of the Latin American (LA) frequencies of mutations amenable for available DMD therapies. We studied 400 patients with clinical diagnosis of dystrophinopathy, implementing a diagnostic molecular algorithm including: MLPA/PCR/Sanger/Exome and bioinformatics. We also performed a meta-analysis of LA's metrics for DMD available therapies. The employed algorithm resulted effective for the achievement of differential diagnosis, reaching a detection rate of 97%. Because of this, corticosteroid treatment was correctly indicated and validated in 371 patients with genetic confirmation of dystrophinopathy. Also, 20 were eligible for exon skipping of exon 51, 21 for exon 53, 12 for exon 45 and another 70 for premature stop codon read-through therapy. We determined that 87.5% of DMD patients will restore the reading frame with the skipping of only one exon. Regarding nonsense variants, UGA turned out to be the most frequent premature stop codon observed (47%). According to the meta-analysis, only four LA countries (Argentina, Brazil, Colombia and Mexico) provide the complete molecular algorithm for dystrophinopathies. We observed different relations among the available targets for exon skipping in the analyzed populations, but a more even proportion of nonsense variants (∼40%). In conclusion, this manuscript describes the theragnosis carried out in Argentinian dystrophinopathy patients. The implemented molecular algorithm proved to be efficient for the achievement of differential diagnosis, which plays a crucial role in patient management, determination of the standard of care and genetic counseling. Finally, this work contributes with the international efforts to characterize the frequencies and variants in LA, pillars of drug development and theragnosis.

Dataset Information

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

Publications

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

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