Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy-Reference-Cited by-同舟云学术

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

Published:2023-01-03 Issue:1 Volume:10 Page:15-28
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Farrar Michelle A.¹²,Kariyawasam Didu¹²,Grattan Sarah¹²,Bayley Klair³,Davis Mark⁴,Holland Sandra¹²,Waddel Leigh B.⁵⁶⁷,Jones Kristi⁵,Lorentzos Michelle⁸⁶⁷,Ravine Anja⁹,Wotton Tiffany⁹,Wiley Veronica⁹,

Affiliation:

1. Department of Paediatric Neurology, Sydney Children’s Hospital Network, Sydney, NSW, Australia

2. Discipline of Paediatrics, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, NSW, Australia

3. Harry Perkins Institute of Medical Research, The University of Western Australia, Nedlands, WA, Australia

4. Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, WA, Australia

5. Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia

6. Kids Neuroscience Centre, The Children’s Hospital at Westmead, Westmead, NSW, Australia

7. Discipline of Paediatrics, University of Sydney, Sydney, NSW, Australia

8. The T.Y. Nelson Department of Neurology and Neurosurgery, The Children’s Hospital at Westmead, Sydney, NSW, Australia

9. NSW Newborn Screening Programme, Children’s Hospital Westmead, Westmead, NSW, Australia

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.

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

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