Related Experiment Video
Updated: Oct 16, 2025
A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
Published on: November 3, 2016
[Newborn screening program for spinal muscular atrophy]
Heike Kölbel1, Katharina Vill2, Oliver Schwartz3
1Klinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland. heike.koelbel@uk-essen.de.
Insights
Germany
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Germany is implementing a newborn screening program for 5q-spinal muscular atrophy (SMA) in late 2021.
- Advances in targeted therapies offer new treatment options for all SMA patients.
Purpose of the Study:
- To present insights from pilot newborn screening projects for 5q-SMA in Germany.
- To discuss the advantages and disadvantages of implementing a nationwide SMA screening program.
Main Methods:
- Newborn screening for 5q-SMA utilizes molecular genetic analysis of dried blood spots to detect homozygous deletion of SMN1 exon 7.
- Confirmation diagnostics involve a second blood sample to determine SMN2 copy numbers.
Main Results:
- Pilot projects in Germany provided valuable data on the feasibility and outcomes of SMA newborn screening.
- Key advantages and disadvantages of the screening approach were identified and analyzed.
Conclusions:
- Early detection through newborn screening enables timely intervention for 5q-SMA.
- Treatment should be managed by neuropediatric departments experienced in 5q-SMA, ensuring access to all therapeutic options.
- Initiating treatment within the first month of life is crucial for optimal outcomes in infants with 5q-SMA.
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.
