Incorporation of spinal muscular atrophy screening into neonatal screening: an integrative review
DOI:
https://doi.org/10.33448/rsd-v11i4.27075Keywords:
Muscular Atrophy Spinal; Neonatal Screening; Spinal Muscular Atrophies of Childhood; Newborn.Abstract
Spinal muscular atrophy (SMA) is a genetically-caused muscular hypotonia that can be screened through neonatal screening. Screening for the disease became recommended in 2019 by the American Panel on Traceable Diseases in Childhood, for this reason this work seeks data in the scientific literature on spinal muscular atrophy and its screening in neonatal screening. The BVS, American Academy of Pediatrics and PubMed databases were used for the research, with a total of 26 selected. We found 4 countries with a pilot project for SMA screening, which used the qPCR test for screening. Asymptomatic children who were diagnosed with SMA by genetic testing and who started treatment at most 2 months of age achieved age-appropriate neuropsychomotor development, were able to sit and walk. Based on this, we conclude that early SMA screening and early treatment initiation are capable of modifying the natural history of the disease and giving children with this disease the opportunity to have age-appropriate motor development.
References
Capellani, A. P., & Silva, M. C. V. da (2013). Síndrome de Werdnig-Hoffman (amiotrofia espinal do tipo 1): Relato de caso. Síndrome de Werdnig-Hoffman (amiotrofia espinal do tipo 1): Relato de caso, 1(42), 4.
Boemer, F., Caberg, J.-H., Dideberg, V., Dardenne, D., Bours, V., Hiligsmann, M., Dangouloff, T., et al. (2019). Newborn screening for SMA in Southern Belgium. Neuromuscular Disorders, 29(5), 343–349. https://linkinghub.elsevier.com/retrieve/pii/S0960896618304826
Calì, F., Ruggeri, G., Chiavetta, V., Scuderi, C., Bianca, S., Barone, C., Ragalmuto, A., et al. (2014). Carrier screening for spinal muscular atrophy in Italian population. Journal of Genetics, 93(1), 179–181. http://link.springer.com/10.1007/s12041-014-0323-x
Gidaro, T., & Servais, L. (2019). Nusinersen treatment of spinal muscular atrophy: Current knowledge and existing gaps. Nusinersen treatment of spinal muscular atrophy: Current knowledge and existing gaps, 1(68), 19–24.
Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., Finkel, R., et al. (2018). Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Journal of Neuromuscular Diseases, 5(2), 145–158. https://www.medra.org/servlet/aliasResolver?alias=iospress&doi=10.3233/JND-180304
INAME. (2019, março). Comentários ao Relatório Técnico da CONITEC “NUSINERSENA PARA O TRATAMENTO DE PACIENTES COM ATROFIA MUSCULAR ESPINHAL 5Q TIPO I”. https://iname.org.br/wp-content/uploads/2019/10/Comentarios-Relatorio-Conitec-VFinal.pdf
Jair Messias Bolsonaro, Marelo Antônio Cartaxo Queiroga Lopes, & Damares Regina Alves. (2021, maio 26). LEI No 14.154, DE 26 DE MAIO DE 2021. Diário oficial da união. https://www.in.gov.br/web/dou
Jalali, A., Erin Rothwell, Rebecca A. Anderson, effrey R. Botkin, Russell J. Butterfield, & Richard E. Nelson. (2020). Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy, 9.
Kariyawasam, D. S. T., Russell, J. S., Wiley, V., Alexander, I. E., & Farrar, M. A. (2019). The implementation of newborn screening for spinal muscular atrophy: The Australian experience. Genetics in Medicine. http://www.nature.com/articles/s41436-019-0673-0
Kraszewski, J. N., Kay, D. M., Stevens, C. F., Koval, C., Haser, B., Ortiz, V., Albertorio, A., et al. (2018). Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genetics in Medicine, 20(6), 608–613. http://www.nature.com/articles/gim2017152
Kronn, D. (2019). Navigating Newborn Screening in the NICU: A User’s Guide. NeoReviews, 20(5), e280–e291. http://neoreviews.aappublications.org/lookup/doi/10.1542/neo.20-5-e280
Lin, C.-W., Kalb, S. J., & Yeh, W.-S. (2015). Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatric Neurology, 53(4), 293–300. https://linkinghub.elsevier.com/retrieve/pii/S0887899415002751
Marcela Tavares de Souza, Michelly Dias da Silva, Rachel de Carvalho. (2010). Revisão integrativa: O que é e como fazer? Revisão integrativa: O que é e como fazer? 8, 102–6.
Ministério da saúde. (2019). Protocolo Clínico e Diretrizes Terapêuticas Atrofia Muscular Espinhal 5q Tipo 1 (Protocolo clínico e Diretrizes terapêuticas Da AME No. 1). Protocolo Clínico e Diretrizes Terapêuticas Atrofia Muscular Espinhal 5q Tipo 1 (p. 40). CONITEC: Secretaria de Ciência, Tecnologia e Insumos Estratégicos Esplanada dos Ministérios. Recuperado de pdf.
Novartis. (2020). Zolgensma, (Bula profissional), 16.
Perez ABA Zanoteli E. (2011). Amiotrofia Espinhal: Diagnóstico e Aconselhamento Genético, 8.
Phan, H. C., Taylor, J. L., Hannon, H., & Howell, R. (2015). Newborn screening for spinal muscular atrophy: Anticipating an imminent need. Seminars in Perinatology, 39(3), 217–229. https://linkinghub.elsevier.com/retrieve/pii/S0146000515000233
Pires, M., Marreiros, H., Francisco, R. C., Soudo, A., & Vieira, J. P. Atrofia Muscular Espinhal. Acta Med Port., 8.
Rausei, J. A. M. (2021). Cribado neonatal en atrofia muscular espinal: Un desafío para cambiar la historia natural, 41, 8.
SPINRAZA (nusinersena)_Bula_Profissionalde_saude.pdf. ([s.d.]). .
Tizzano, E. F. (2019). Treating neonatal spinal muscular atrophy: A 21st century success story? Early Human Development, 138, 104851. https://linkinghub.elsevier.com/retrieve/pii/S0378378219304918
Vill, K., Kölbel, H., Schwartz, O., Blaschek, A., Olgemöller, B., Harms, E., Burggraf, S., et al. (2019). One Year of Newborn Screening for SMA – Results of a German Pilot Project. Journal of Neuromuscular Diseases, 6(4), 503–515. https://www.medra.org/servlet/aliasResolver?alias=iospress&doi=10.3233/JND-190428
Vill, K., Schwartz, O., Blaschek, A., Gläser, D., Nennstiel, U., Wirth, B., Burggraf, S., et al. (2021). Newborn screening for spinal muscular atrophy in Germany: Clinical results after 2 years. Orphanet Journal of Rare Diseases, 16(1), 153. https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01783-8
Xia, Z., Zhou, Y., Fu, D., Wang, Z., Ge, Y., Ren, J., & Guo, Q. (2019). Carrier screening for spinal muscular atrophy with a simple test based on melting analysis. Journal of Human Genetics, 64(5), 387–396. http://www.nature.com/articles/s10038-019-0576-6
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Marillis Mesquita Gonçalves Arruda; Juliana Ferreira Ura Berlanga ; Sandra Coenga de Souza ; Simone Galli Rocha Bragato ; Nathália de Oliveira ; Mirella Viviani Amaral Assis Belizário ; Maria Inez Vaz de Oliveira
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
