Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
| Autor: | Brunhilde Wirth, Astrid Blaschek, Jürgen Durner, Katja Eggermann, Erik Harms, Marc Becker, Ludwig Czibere, Wulf Röschinger, Katharina Vill, Uta Nennstiel, Ulrike Schara, Oliver Schwartz, Siegfried Burggraf, Bernhard Olgemöller, Dieter Gläser, Heike Kölbel, Wolfgang Müller-Felber |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty medicine.medical_treatment Medizin lcsh:Medicine Disease SMN1 Spinal Muscular Atrophies of Childhood Asymptomatic Muscular Atrophy Spinal Neonatal Screening Germany medicine Humans Pharmacology (medical) Child Genetics (clinical) Newborn screening business.industry Incidence (epidemiology) Research lcsh:R Infant Newborn Infant Neurodegenerative Diseases General Medicine Spinal muscular atrophy SMA medicine.disease Survival of Motor Neuron 1 Protein nervous system diseases medicine.symptom business Watchful waiting |
| Zdroj: | Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021) |
| ISSN: | 1750-1172 |
| Popis: | Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective was to assess the impact of genetic newborn screening for SMA on outcome. Methods We provided clinical data from 43 SMA patients, identified via polymerase chain reaction of the SMN1 gene from dried blood spots between January 2018 and January 2020 in Germany. Follow-up included neurophysiological examinations and standardized physiotherapeutic testing. Results Detection of SMA with newborn screening was consistent with known incidence in Germany. Birth prevalence was 1:6910; 39.5% had 2 SMN2 copies, 23% had 3 SMN2 copies, 32.5% had 4 copies, and 4.5% had 5 copies of the SMN2 gene. Treatment with SMA-specific medication could be started at the age of 14–39 days in 21 patients. Pre-symptomatically treated patients remained throughout asymptomatic within the observation period. 47% of patients with 2 SMN2 copies showed early, presumably intrauterine onset of disease. These patients reached motor milestones with delay; none of them developed respiratory symptoms. Untreated children with 2 SMN2 copies died. Untreated children with 3 SMN2 copies developed proximal weakness in their first year. In patients with ≥ 4 SMN2 copies, a follow-up strategy of “watchful waiting” was applied despite the fact that one of them was treated from the age of 6 months. Two infant siblings with 4 SMN2 copies were identified with a missed diagnosis of SMA type 3. Conclusion Identification of newborns with infantile SMA and prompt SMA-specific treatment substantially improves neurodevelopmental outcome, and we recommend implementation in the public newborn screening in countries where therapy is available. Electrophysiology is a relevant parameter to support the urgency of therapy. There has to be a short time interval between a positive screening result and referral to a therapy-ready specialized treatment center. |
| Databáze: | OpenAIRE |
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