Periodical
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2Copies through Newborn Screening – Opportunity or Burden?
| العنوان: | Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2Copies through Newborn Screening – Opportunity or Burden? |
|---|---|
| المؤلفون: | Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike |
| المصدر: | Journal of Neuromuscular Diseases; March 2020, Vol. 7 Issue: 2 p109-117, 9p |
| مستخلص: | Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2gene. This gene is known to be the most important but not the only disease modifier. In our SMA-NBS pilot project in Germany comprising 278,970 infants screened between January 2018 and November 2019 were 38 positive cases with a homozygous SMN1deletion. 40% of them had 4 or more SMN2copies. The incidence for homozygous SMN1deletion was 1 : 7350, which is within the known range of SMA incidence in Germany. Of the 15 SMA children with 4 SMN2copies, one child developed physical signs of SMA by the age of 8 months. Reanalysis of the SMN2 copy number by a different test method revealed 3 copies. Two children had affected siblings with SMA Type III, who were diagnosed only after detection of the index patient in the NBS. One had a positive family history with an affected aunt (onset of disease at the age of 3 years). Three families were lost to medical follow up; two because of socioeconomic reasons and one to avoid the psychological stress associated with the appointments. Decisions on how to handle patients with 4 SMN2copies are discussed in the light of the experience gathered from our NBS pilot SMA program. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 22143599 22143602 |
|---|---|
| DOI: | 10.3233/JND-200475 |