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

共 50 条

[21] PARENTAL ATTITUDES TOWARD NEWBORN SCREENING FOR DUCHENNE/BECKER MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY
Wood, Molly F.
Hughes, Sarah C.
Hache, Lauren P.
Naylor, Edwin W.
Abdel-Hamid, Hoda Z.
Barmada, M. Michael
Dobrowolski, Steven F.
Stickler, David E.
Clemens, Paula R.
MUSCLE & NERVE, 2014, 49 (06) : 822 - 828
[22] Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
Hartnett, Michael J.
Lloyd-Puryear, Michele A.
Tavakoli, Norma P.
Wynn, Julia
Koval-Burt, Carrie L.
Gruber, Dorota
Trotter, Tracy
Caggana, Michele
Chung, Wendy K.
Armstrong, Niki
Brower, Amy M.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2022, 8 (04)
[23] The implementation of newborn screening for spinal muscular atrophy: the Australian experience
Kariyawasam, Didu S. T.
Russell, Jacqueline S.
Wiley, Veronica
Alexander, Ian E.
Farrar, Michelle A.
GENETICS IN MEDICINE, 2020, 22 (03) : 557 - 565
[24] Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy
Park, Sunju
Maloney, Breanne
Caggana, Michele
Tavakoli, Norma P.
MUSCLE & NERVE, 2022, 65 (06) : 652 - 658
[25] Treatment options for Duchenne muscular dystrophy
Emma Ciafaloni
Richard T. Moxley
Current Treatment Options in Neurology, 2008, 10 : 86 - 93
[26] Viltotarsen for the treatment of Duchenne muscular dystrophy
Roshmi, R. R.
Yokota, T.
DRUGS OF TODAY, 2019, 55 (10) : 627 - 639
[27] Eteplirsen in the treatment of Duchenne muscular dystrophy
Lim, Kenji Rowel Q.
Maruyama, Rika
Yokota, Toshifumi
DRUG DESIGN DEVELOPMENT AND THERAPY, 2017, 11 : 533 - 545
[28] Operative treatment in Duchenne muscular dystrophy
Beck, M
Naumann, T
NERVENHEILKUNDE, 1999, 18 (05) : 257 - 259
[29] Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy
Maloney, Breanne
Park, Sunju
Sowizral, Mycroft
Brackett, Isa
Moslehi, Roxana
Chung, Wendy K.
Gruber, Dorota
Brower, Amy
Lloyd-Puryear, Michele
Caggana, Michele
Tavakoli, Norma P.
CLINICAL BIOCHEMISTRY, 2023, 118
[30] Delayed diagnosis of Duchenne muscular dystrophy in Chile
Avaria, MDA
Kleinsteuber, K
Herrera, L
Carvallo, P
REVISTA MEDICA DE CHILE, 1999, 127 (01) : 65 - 70

← 1 2 3 4 5 →