Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

被引：6

作者：

Farrar, Michelle A. ^{[1
,2
]}

Kariyawasam, Didu ^{[1
,2
]}

Grattan, Sarah ^{[1
,2
]}

Bayley, Klair ^{[3
]}

Davis, Mark ^{[4
]}

Holland, Sandra ^{[1
,2
]}

Waddel, Leigh B. ^{[5
,6
,7
]}

Jones, Kristi ^{[5
]}

Lorentzos, Michelle ^{[6
,7
,8
]}

Ravine, Anja ^{[9
]}

Wotton, Tiffany ^{[9
]}

Wiley, Veronica ^{[9
]}

机构：

[1] Sydney Childrens Hosp Network, Dept Paediat Neurol, Sydney, NSW, Australia

[2] UNSW Sydney, UNSW Med & Hlth, Sch Clin Med, Discipline Paediat, Sydney, NSW, Australia

[3] Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA, Australia

[4] QEII Med Ctr, Dept Diagnost Genom, PathWest Lab Med, Perth, WA, Australia

[5] Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Discipline Child & Adolescent Hlth, Sydney, NSW, Australia

[6] Childrens Hosp Westmead, TY Nelson Dept Neurol & Neurosurg, Sydney, NSW, Australia

[7] Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia

[8] Univ Sydney, Discipline Paediat, Sydney, NSW, Australia

[9] Childrens Hosp Westmead, NSW Newborn Screening Programme, Westmead, NSW, Australia

来源：

JOURNAL OF NEUROMUSCULAR DISEASES | 2023年 / 10卷 / 01期

基金：

英国医学研究理事会;

关键词：

Duchenne muscular dystrophy; newborn screening; presymptomatic; implementation; translation; PARENTAL ATTITUDES; EXPERIENCE; MANAGEMENT; EMERGENCY; BENEFIT; CARE;

D O I：

10.3233/JND-221535

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：15 / 28

页数：14

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