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Newborn Screening for Duchenne Muscular Dystrophy
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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 7433

Special Issue Editors

Prof. Dr. Stuart J. Moat

E-Mail Website
Guest Editor
1. Wales Newborn Screening Laboratory, Department of Medical Biochemistry, Immunology & Toxicology, University Hospital Wales, Cardiff CF14 4XW, UK
2. School of Medicine, Cardiff University, University Hospital Wales, Cardiff CF14 4XW, UK
Interests: newborn screening; inherited metabolic disorders; assay standardisation; metabolomics
Dr. Michele A. Lloyd-Puryear

E-Mail Website1 Website2
Guest Editor
Retired, Eunice Kennedy Shriver National Institute of Child Health and Human Development (Former Senior Medical and Scientific Advisor), National Institutes of Health, Bethesda, MD, USA
Interests: pediatrics; genetic services; newborn screening services and research; public health; information systems infrastructure
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. R. Rodney Howell

E-Mail Website
Guest Editor
Emeritus Professor and Chair of Pediatrics and Member, Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA
Interests: genetics; inborn errors of metabolism; rare disease; genetic public policy; newborn screening
Niki Armstrong

E-Mail Website
Guest Editor
Senior Director of Community Research and Genetic Services, Parent Project Muscular Dystrophy, 1012 14th NW, Suite 500, Washington, DC 20005, USA
Interests: dystrophinopathies; newborn screening

Special Issue Information

Dear Colleagues,

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.

PUBLICATION TYPES:
A wide range of publication types are encouraged, including:

  • Research articles;
  • Reviews;
  • Case reports;
  • Commentaries.

Prof. Dr. Stuart J. Moat
Dr. Michele A. Lloyd-Puryear
Prof. Dr. R. Rodney Howell
Niki Armstrong
Guest Editors

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 1600 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.

Keywords

  • duchenne muscular dystrophy
  • newborn screening
  • creatine kinase
  • diagnostic odyssey
  • benefits
  • harms
  • treatments
  • health outcomes

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Published Papers (2 papers)

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Research

8 pages, 897 KiB  
Article
Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays
by Paul Dantonio, Norma P. Tavakoli, Brooke Migliore, Elizabeth McCown, Timothy Lim, Sunju Park, Michele Caggana, Katerina S. Kucera, Han Phan, Natalie Street, Konstantinos Petritis and Robert F. Vogt
Int. J. Neonatal Screen. 2023, 9(1), 13; https://doi.org/10.3390/ijns9010013 - 28 Feb 2023
Cited by 3 | Viewed by 2479
Abstract
Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute [...] Read more.
Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute (RTI) International. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) produced a set of seven prototype dried blood spot (DBS) reference materials spiked with varying levels of creatine kinase MM isoform (CK-MM). These DBS were evaluated over a 3-week period by CDC, NYS, and RTI, all using the same CK-MM isoform-specific fluoroimmunoassay. Results from each laboratory were highly correlated with the relative proportion of CK-MM added to each of the six spiked pools. Based on reference ranges established by NYS and RTI for their pilot studies, these contrived DBS collectively spanned the CK-MM ranges found in typical newborns and the elevated ranges associated with DMD. This set allows quality assessment over the wide range of fluctuating CK-MM levels in typical and DMD-affected newborns. Full article
(This article belongs to the Special Issue Newborn Screening for Duchenne Muscular Dystrophy)
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15 pages, 899 KiB  
Article
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
by Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong and Amy M. Brower
Int. J. Neonatal Screen. 2022, 8(4), 50; https://doi.org/10.3390/ijns8040050 - 22 Sep 2022
Cited by 12 | Viewed by 4033
Abstract
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, [...] Read more.
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network’s data tools played a key role in describing the NBS pilot findings and engaging stakeholders. Full article
(This article belongs to the Special Issue Newborn Screening for Duchenne Muscular Dystrophy)
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