Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology

被引:4
作者
Farrar, Michelle A. [1 ,2 ,5 ]
Kiernan, Matthew C. [3 ,4 ]
Kariyawasam, Didu S. [1 ,2 ]
机构
[1] UNSW, Discipline Paediat & Child Hlth, UNSW Med & Hlth, Sydney, NSW 2052, Australia
[2] Sydney Childrens Hosp Network, Dept Neurol, Sydney, NSW 2031, Australia
[3] Univ Sydney, Brain & Mind Ctr, Sydney, NSW 2050, Australia
[4] Royal Prince Alfred Hosp, Dept Neurol, Sydney, NSW 2050, Australia
[5] Sydney Childrens Hosp Network, Level 8,Bright Alliance Bldg,Avoca St, Randwick, NSW 2031, Australia
基金
英国医学研究理事会;
关键词
D O I
10.1093/brain/awad061
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:E65 / E66
页数:2
相关论文
共 10 条
[1]   Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme [J].
D'Silva, Arlene M. ;
Kariyawasam, Didu S. T. ;
Best, Stephanie ;
Wiley, Veronica ;
Farrar, Michelle A. .
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2022, 64 (05) :625-632
[2]   Pre-symptomatic spinal muscular atrophy: a proposed nosology COMMENT [J].
Finkel, Richard S. ;
Benatar, Michael .
BRAIN, 2022, 145 (07) :2247-2249
[3]   Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study [J].
Kariyawasam, Didu S. ;
D'Silva, Arlene M. ;
Sampaio, Hugo ;
Briggs, Nancy ;
Herbert, Karen ;
Wiley, Veronica ;
Farrar, Michelle A. .
LANCET CHILD & ADOLESCENT HEALTH, 2023, 7 (03) :159-170
[4]   "We needed this": perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy [J].
Kariyawasam, Didu S. T. ;
D'Silva, Arlene M. ;
Vetsch, Janine ;
Wakefield, Claire E. ;
Wiley, Veronica ;
Farrar, Michelle A. .
ECLINICALMEDICINE, 2021, 33
[5]   The implementation of newborn screening for spinal muscular atrophy: the Australian experience [J].
Kariyawasam, Didu S. T. ;
Russell, Jacqueline S. ;
Wiley, Veronica ;
Alexander, Ian E. ;
Farrar, Michelle A. .
GENETICS IN MEDICINE, 2020, 22 (03) :557-565
[6]  
Kong L., 2021, SCI TRANSL MED, V13, P578
[7]   The neurological examination of the newborn baby [J].
Mercuri, E ;
Ricci, D ;
Pane, M ;
Baranello, G .
EARLY HUMAN DEVELOPMENT, 2005, 81 (12) :947-956
[8]   Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis [J].
Shih, Sophy T. F. ;
Farrar, Michelle Anne ;
Wiley, Veronica ;
Chambers, Georgina .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2021, 92 (12) :1296-1304
[9]  
Strauss KA, 2022, NAT MED, V28, P1381, DOI 10.1038/s41591-022-01866-4
[10]   Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function [J].
Swoboda, KJ ;
Prior, TW ;
Scott, CB ;
McNaught, TP ;
Wride, MC ;
Reyna, SP ;
Bromberg, MB .
ANNALS OF NEUROLOGY, 2005, 57 (05) :704-712