| Autor: |
Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Inken Brockow, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Heike Kölbel, Christine Müller, Iris Hannibal, Bernd Olgemöller, Ulrike Schara, Arpad von Moers, Regina Trollmann, Jessika Johannssen, Andreas Ziegler, Sebahattin Cirak, Andreas Hahn, Maja von der Hagen, Claudia Weiss, Gudrun Schreiber, Marina Flotats-Bastardas, Hans Hartmann, Sabine Illsinger, Astrid Pechmann, Veronka Horber, Jan Kirschner, Cornelia Köhler, Benedikt Winter, Johannes Friese, Katharina Vill |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Popis: |
Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018–2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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