Loading...
Please wait, while we are loading the content...
Similar Documents
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
| Content Provider | Europe PMC |
|---|---|
| Author | Farrar, Michelle A. Kariyawasam, Didu Grattan, Sarah Bayley, Klair Davis, Mark Holland, Sandra Waddel, Leigh B. Jones, Kristi Lorentzos, Michelle Ravine, Anja Wotton, Tiffany Wiley, Veronica the DMD NBS Working Group |
| Copyright Year | 2023 |
| Abstract | A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening, and the public acceptability of the program. This is particularly vital to ascertain as DMD is considered a ‘non-treatable’ disease and thus does not fit the traditional criteria for newborn screening. However, modern perspectives of NBS for DMD are changing and point to possible net benefits for children and their families undertaking NBS for DMD. The aim of this workshop was to establish pathways for the successful implementation and evaluation of a pilot NBS for DMD program in Australia. Consensus was reached as to the rationale for, potential benefits, risks, barriers and facilitators of screening, alongside the establishment of screening protocols and clinical referral pathways. |
| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC9881031&blobtype=pdf |
| ISSN | 22143599 |
| Journal | Journal of Neuromuscular Diseases [J Neuromuscul Dis] |
| Volume Number | 10 |
| PubMed Central reference number | PMC9881031 |
| Issue Number | 1 |
| PubMed reference number | 36373292 |
| e-ISSN | 22143602 |
| DOI | 10.3233/jnd-221535 |
| Language | English |
| Publisher | IOS Press |
| Publisher Date | 2023-01-01 |
| Publisher Place | Nieuwe Hemweg 6B, 1013 BG Amsterdam, The Netherlands |
| Access Restriction | Open |
| Rights License | This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2023 – The authors. Published by IOS Press |
| Subject Keyword | Duchenne muscular dystrophy newborn screening presymptomatic implementation translation |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology Neurology (clinical) |
