Heike Kölbel1, Katharina Vill2, Oliver Schwartz3, Astrid Blaschek2, Uta Nennstiel4, Ulrike Schara-Schmidt5, Georg F Hoffmann6, Dieter Gläser7, Wulf Röschinger8, Günther Bernert9, Andrea Klein10,11, Wolfgang Müller-Felber2. 1. Klinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland. heike.koelbel@uk-essen.de. 2. Dr. v. Haunersches Kinderspital, Ludwig-Maximilians-Universität (LMU), München, Deutschland. 3. Klinik für Kinder- und Jugendmedizin, UKM, Münster, Deutschland. 4. Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit, Oberschleißheim, Deutschland. 5. Klinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland. 6. Zentrum für Kinder- und Jugendmedizin, UKHD, Heidelberg, Deutschland. 7. Genetikum, Neu-Ulm, Deutschland. 8. Labor Becker und Kollegen, München, Deutschland. 9. Gottfried von Preyer'sches Kinderspital, Wien, Österreich. 10. Universitäts-Kinderspital beider Basel, UKBB, Basel, Schweiz. 11. Inselspital, Universitäts-Kinderklinik Bern, Bern, Schweiz.
Abstract
BACKGROUND: The introduction of a comprehensive newborn screening program for spinal muscular atrophy (SMA), specifically for 5q-SMA, is planned for the end of 2021 in Germany. Several targeted treatment options have become available for all patients with SMA. MATERIAL AND METHODS: Newborn screening for 5q-SMA is based on the detection of a homozygous deletion of exon 7 in the SMN1 gene by molecular genetic analysis from the dried blood card. In all cases a second blood sample must be drawn as a part of confirmation diagnostics including the determination of the SMN2 copy numbers. RESULTS: Insights from pilot projects performed in parts of Germany are presented. Advantages and disadvantages of the screening project are discussed. CONCLUSION: Consultation and treatment should be carried out in a department of neuropediatrics with experience in the treatment of children with 5q-SMA, which is able to provide all current treatment options for the child, so that, when necessary, the treatment can be started within the first month of life.
BACKGROUND: The introduction of a comprehensive newborn screening program for spinal muscular atrophy (SMA), specifically for 5q-SMA, is planned for the end of 2021 in Germany. Several targeted treatment options have become available for all patients with SMA. MATERIAL AND METHODS: Newborn screening for 5q-SMA is based on the detection of a homozygous deletion of exon 7 in the SMN1 gene by molecular genetic analysis from the dried blood card. In all cases a second blood sample must be drawn as a part of confirmation diagnostics including the determination of the SMN2 copy numbers. RESULTS: Insights from pilot projects performed in parts of Germany are presented. Advantages and disadvantages of the screening project are discussed. CONCLUSION: Consultation and treatment should be carried out in a department of neuropediatrics with experience in the treatment of children with 5q-SMA, which is able to provide all current treatment options for the child, so that, when necessary, the treatment can be started within the first month of life.
Authors: Richard S Finkel; Eugenio Mercuri; Oscar H Meyer; Anita K Simonds; Mary K Schroth; Robert J Graham; Janbernd Kirschner; Susan T Iannaccone; Thomas O Crawford; Simon Woods; Francesco Muntoni; Brunhilde Wirth; Jacqueline Montes; Marion Main; Elena S Mazzone; Michael Vitale; Brian Snyder; Susana Quijano-Roy; Enrico Bertini; Rebecca Hurst Davis; Ying Qian; Thomas Sejersen Journal: Neuromuscul Disord Date: 2017-11-23 Impact factor: 4.296
Authors: Eugenio Mercuri; Richard S Finkel; Francesco Muntoni; Brunhilde Wirth; Jacqueline Montes; Marion Main; Elena S Mazzone; Michael Vitale; Brian Snyder; Susana Quijano-Roy; Enrico Bertini; Rebecca Hurst Davis; Oscar H Meyer; Anita K Simonds; Mary K Schroth; Robert J Graham; Janbernd Kirschner; Susan T Iannaccone; Thomas O Crawford; Simon Woods; Ying Qian; Thomas Sejersen Journal: Neuromuscul Disord Date: 2017-11-23 Impact factor: 4.296
Authors: Darryl C De Vivo; Enrico Bertini; Kathryn J Swoboda; Wuh-Liang Hwu; Thomas O Crawford; Richard S Finkel; Janbernd Kirschner; Nancy L Kuntz; Julie A Parsons; Monique M Ryan; Russell J Butterfield; Haluk Topaloglu; Tawfeg Ben-Omran; Valeria A Sansone; Yuh-Jyh Jong; Francy Shu; John F Staropoli; Douglas Kerr; Alfred W Sandrock; Christopher Stebbins; Marco Petrillo; Gabriel Braley; Kristina Johnson; Richard Foster; Sarah Gheuens; Ishir Bhan; Sandra P Reyna; Stephanie Fradette; Wildon Farwell Journal: Neuromuscul Disord Date: 2019-09-12 Impact factor: 4.296
Authors: Jacqueline Glascock; Jacinda Sampson; Amanda Haidet-Phillips; Anne Connolly; Basil Darras; John Day; Richard Finkel; R Rodney Howell; Katherine Klinger; Nancy Kuntz; Thomas Prior; Perry B Shieh; Thomas O Crawford; Douglas Kerr; Jill Jarecki Journal: J Neuromuscul Dis Date: 2018