Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

Michelle A Farrar; Didu Kariyawasam; Sarah Grattan; Klair Bayley; Mark Davis; Sandra Holland; Leigh B Waddel; Kristi Jones; Michelle Lorentzos; Anja Ravine; Tiffany Wotton; Veronica Wiley; DMD NBS Working Group

doi:10.3233/JND-221535

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

J Neuromuscul Dis. 2023;10(1):15-28. doi: 10.3233/JND-221535.

Authors

Michelle A Farrar^{1

2}, Didu Kariyawasam^{1

2}, Sarah Grattan^{1

2}, Klair Bayley³, Mark Davis⁴, Sandra Holland^{1

2}, Leigh B Waddel^{5

6

7}, Kristi Jones⁵, Michelle Lorentzos^{8

6

7}, Anja Ravine⁹, Tiffany Wotton⁹, Veronica Wiley⁹; DMD NBS Working Group

Affiliations

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.

Keywords: Duchenne muscular dystrophy; implementation; newborn screening; presymptomatic; translation.

Publication types

Review

MeSH terms

Australia
Child
Humans
Infant, Newborn
Muscular Dystrophy, Duchenne* / diagnosis
Muscular Dystrophy, Duchenne* / therapy
Neonatal Screening / methods
Referral and Consultation