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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
Neuromuscular Disorders, Volume 31, No. 6, Year 2021
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Description
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have been implemented. The aim of the study was to obtain a global overview on the current situation and perspectives on SMA NBS. We conducted a survey and contacted experts from 152 countries, from which we gathered 87 responses. We identified 9 SMA NBS programs that have so far detected 288 newborns with SMA out of 3,674,277 newborns screened. Funding, screening methods, organisation, and consent process were variable between SMA NBS programs. Many respondents pointed the lack of cost/benefit data as a major obstacle to SMA NBS implementation. In the next four years, our data suggest a 24% coverage of newborns from countries where a disease-modifying drug is available and 8,5% coverage in countries with no diseases-modifying drugs. The annual proportion of newborns to be screened in the coming years is expected to increase steadily. The experts expressed a strong need for the implementation of SMA NBS as means to improve care for patients with SMA. © 2021 Elsevier B.V.
Authors & Co-Authors
Adoukonou, Thierry Armel
Unknown Affiliation
Barišić, Nina
Unknown Affiliation
Bashiri, Fahad A.
Unknown Affiliation
Bastaki, Lailá A.
Unknown Affiliation
Bertini, Enrico Silvio
Unknown Affiliation
Borde, Patricia
Unknown Affiliation
Born, Peter
Unknown Affiliation
Butoianu, Nicolina
Unknown Affiliation
Castiglioni, Claudia
Unknown Affiliation
Chan, Hoi Shan Sophelia
Unknown Affiliation
Chien, Yinhsiu
Unknown Affiliation
Christodoulou, Kyproula
Unknown Affiliation
Farrar, Michelle A.
Unknown Affiliation
Goemans, Nathalie M.L.A.
Unknown Affiliation
Guinhouya, Kokou Mensah
Unknown Affiliation
Haberlová, Jana
Unknown Affiliation
Hovhannesyan, Kristine
Unknown Affiliation
Isohanni, Pirjo
Unknown Affiliation
Kandawasvika, Gwendoline Quintoline
Unknown Affiliation
Kawatu, Nfwama
Unknown Affiliation
Kernohan, Kristin D.
Unknown Affiliation
Kirschner, Jan
Unknown Affiliation
Kouamé-Assouan, Ange Éric
Unknown Affiliation
Auzenbaha, Madara
Unknown Affiliation
Litvinenko, Ivan O.
Unknown Affiliation
Nevo, Yoram
Unknown Affiliation
Nguefack, Séraphin
Unknown Affiliation
Nkole, Kafula Lisa
Unknown Affiliation
Piazzon, Flavia Balbo
Unknown Affiliation
Rasmussen, Magnhild
Unknown Affiliation
Saito, Kayoko
Unknown Affiliation
Sakadi, Foksouna
Unknown Affiliation
Sangaré, Modibo
Unknown Affiliation
Shatillo, Andriy V.
Unknown Affiliation
Szabó, Léna
Unknown Affiliation
Tatishvili, Nana Nino
Unknown Affiliation
Tazir, Mériem
Unknown Affiliation
Tizzano, Eduardo Fidel
Unknown Affiliation
Topaloglu, Haluk A.
Unknown Affiliation
Vlodavets, Dmitry V.
Unknown Affiliation
Wanigasinghe, Jithangi
Unknown Affiliation
Wilmshurst, J. Madeleine
Unknown Affiliation
Xiong, Hui
Unknown Affiliation
Zafeiriou, Dimitrios I.
Unknown Affiliation
Statistics
Citations: 75
Authors: 44
Affiliations: 4
Identifiers
Doi:
10.1016/j.nmd.2021.03.007
ISSN:
09608966
Research Areas
Health System And Policy
Study Design
Cross Sectional Study
Study Approach
Quantitative