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Special Issue "Newborn Screening for Duchenne Muscular Dystrophy"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 3598
Special Issue Editors
2. School of Medicine, Cardiff University, University Hospital Wales, Cardiff CF14 4XW, UK
Interests: newborn screening; inherited metabolic disorders; assay standardisation; metabolomics
E-Mail Website1 Website2
Interests: pediatrics; genetic services; newborn screening services and research; public health; information systems infrastructure
Special Issues, Collections and Topics in MDPI journals
Interests: genetics; inborn errors of metabolism; rare disease; genetic public policy; newborn screening
Special Issue Information
Duchenne muscular dystrophy (DMD/Duchenne), a disease with 100% fatality, is one of the ten most severe and common pediatric genetic diseases, which affects an estimated 1 in every 5000 male births. The clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual’s life span. Therefore, the Duchenne community has been exploring and evaluating the feasibility of identifying infants early through newborn screening.
This Special Issue will report on many of the issues surrounding Duchenne newborn screening. Topics of interest include:
- Assessing parent attitudes about Duchenne newborn screening.
- Preliminary follow-up protocols for Duchenne newborn screening: what to tell females, carriers, and families.
- Ethical and diagnostic issues when screening for x-linked disorders.
To facilitate review and to enable comparisons between country or state program responses, please ensure that the following information is included in your introduction:
- Geographic area covered;
- Number of births screened annually;
- Physical location of the newborn screening laboratory (stand-alone, in public health laboratory, in-hospital laboratory).
Whatever the focus of your paper, if not all aspects of the screening pathway are covered, please briefly mention those which are absent, i.e., specimen collection, transport, lab testing, follow-up, or diagnosis.
A wide range of publication types are encouraged, including:
- Research articles;
- Case reports;
Prof. Dr. Stuart J. Moat
Dr. Michele A. Lloyd-Puryear
Prof. Dr. R. Rodney Howell
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- duchenne muscular dystrophy
- newborn screening
- creatine kinase
- diagnostic odyssey
- health outcomes