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

[41] SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY
ZELLWEGER, H
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1980, 22 (02): : 245 - 246
[42] DUCHENNE MUSCULAR-DYSTROPHY - NEONATAL SCREENING AND PRENATAL-DIAGNOSIS
PLAUCHU, H
DORCHE, C
CORDIER, MP
GUIBAUD, P
ROBERT, JM
LANCET, 1989, 1 (8639): : 669 - 669
[43] Prenatal diagnosis and deletion screening of Duchenne muscular dystrophy in Iranian families
Tabarroki, A
Kariminejad, R
Almadani, N
Najmabadi, H
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 597 - 597
[44] Diagnosis and management of Duchenne muscular dystrophy
Baxter, Peter
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2010, 52 (04): : 313 - 313
[45] Diagnosis and therapy of Duchenne muscular dystrophy
Vry, J.
Schara, U.
Lutz, S.
Kirschner, J.
MONATSSCHRIFT KINDERHEILKUNDE, 2012, 160 (02) : 177 - 185
[46] Early diagnosis in Duchenne muscular dystrophy
Zalaudek, I
Bonelli, RM
Költringer, P
Reisecker, F
Wagner, K
LANCET, 1999, 353 (9168): : 1975 - 1975
[47] Prenatal diagnosis of Duchenne muscular dystrophy
Maheshwari, M
R, V
Kabra, M
Arora, S
Shastri, SS
Deka, D
Kriplani, A
Menon, PSN
NATIONAL MEDICAL JOURNAL OF INDIA, 2000, 13 (03): : 129 - 131
[48] Improving the diagnosis of Duchenne muscular dystrophy
Guglieri, M.
van Ruiten, H. J. A.
Straub, V.
Bushby, K.
NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 853 - 854
[49] DIAGNOSIS AND SURGICAL TREATMENT OF SCOLIOSIS IN DUCHENNE AND BECKER MUSCULAR DYSTROPHY
Shtayer, M.
Andrews, J.
Meaney, F. J.
Romitti, P. A.
Cunniff, C.
JOURNAL OF INVESTIGATIVE MEDICINE, 2013, 61 (01) : 165 - 165
[50] GENE STUDIES IN NEWBORN MALES WITH DUCHENNE MUSCULAR-DYSTROPHY DETECTED BY NEONATAL SCREENING
GREENBERG, CR
JACOBS, HK
NYLEN, E
ROHRINGER, M
AVERILL, N
VANOMMEN, GJB
WROGEMANN, K
LANCET, 1988, 2 (8608): : 425 - 427

← 1 2 3 4 5 →