Humans; Infant, Newborn; Neonatal Screening/methods; Muscular Atrophy, Spinal/diagnosis; Muscular Atrophy, Spinal; Neonatal Screening; Pediatrics, Perinatology and Child Health
Disciplines :
Pediatrics
Author, co-author :
Oskoui, Maryam; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada ; Department of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada
Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Muscular Dystrophy UK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom
Language :
English
Title :
Universal Newborn Screening for Spinal Muscular Atrophy.
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Aragon-Gawinska K, Mouraux C, Dangouloff T, Servais L. Spinal muscular atrophy treatment in patients identified by newborn screening: A systematic review. Genes (Basel). 2023; 14 (7): 1377. doi: 10. 3390/genes14071377
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Dangouloff T, Boemer F, Dideberg V, Caberg JH, Servais L. Reader response: discrepancy in redetermination of SMN2 copy numbers in children with SMA. Neurology. 2020; 95 (3): 144-145. doi: 10. 1212/WNL. 0000000000009907
Abiusi E, Costa-Roger M, Bertini ES, Tiziano FD, Tizzano EF; all participants. 270th ENMC InternationalWorkshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands. Neuromuscul Disord. 2024; 34: 114-122. doi: 10. 1016/j. nmd. 2023. 12. 008
Pane M, Donati MA, Cutrona C, et al. Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening. Eur J Pediatr. 2022; 181 (7): 2821-2829. doi: 10. 1007/s00431-022-04470-3
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Dangouloff T, Botty C, Beaudart C, Servais L, Hiligsmann M. Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet J Rare Dis. 2021; 16 (1): 47. doi: 10. 1186/s13023-021-01695-7
Dangouloff T, Hiligsmann M, Deconinck N, et al. Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Dev Med Child Neurol. 2023; 65 (1): 67-77. doi: 10. 1111/dmcn. 15286
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Weidlich D, Servais L, Kausar I, Howells R, Bischof M. Cost-effectiveness of newborn screening for spinal muscular atrophy in England. Neurol Ther. 2023; 12 (4): 1205-1220. doi: 10. 1007/s40120-023-00489-2
Dangouloff T, Thokala P, Stevenson MD, et al. Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium. Neuromuscul Disord. 2024; 34: 61-67. doi: 10. 1016/j. nmd. 2023. 11. 013
The Lancet. Genomic newborn screening: current concerns and challenges. Lancet. 2023; 402 (10398): 265. doi: 10. 1016/S0140-6736 (23)01513-1
Parks M, Court S, Bowns B, et al. Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage. Eur J Hum Genet. 2017; 25 (4): 416-422. doi: 10. 1038/ejhg. 2016. 195
