Universität zu Köln

Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Glaeser, Dieter, Nennstiel, Uta, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Burggraf, Siegfried, Roeschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jurgen, Eggermann, Katja, Olgemoeller, Bernhard, Harms, Erik, Schara, Ulrike, Koelbel, Heike and Mueller-Felber, Wolfgang (2021). Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J. Rare Dis., 16 (1). LONDON: BMC. ISSN 1750-1172

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Vill, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Schwartz, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Blaschek, Astrid UNSPECIFIED UNSPECIFIED UNSPECIFIED Glaeser, Dieter UNSPECIFIED UNSPECIFIED UNSPECIFIED Nennstiel, Uta UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirth, Brunhilde UNSPECIFIED orcid.org/0000-0003-4051-5191 UNSPECIFIED Burggraf, Siegfried UNSPECIFIED UNSPECIFIED UNSPECIFIED Roeschinger, Wulf UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Marc UNSPECIFIED UNSPECIFIED UNSPECIFIED Czibere, Ludwig UNSPECIFIED UNSPECIFIED UNSPECIFIED Durner, Jurgen UNSPECIFIED UNSPECIFIED UNSPECIFIED Eggermann, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Olgemoeller, Bernhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Harms, Erik UNSPECIFIED UNSPECIFIED UNSPECIFIED Schara, Ulrike UNSPECIFIED UNSPECIFIED UNSPECIFIED Koelbel, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller-Felber, Wolfgang UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-597459
DOI:	10.1186/s13023-021-01783-8
Journal or Publication Title:	Orphanet J. Rare Dis.
Volume:	16
Number:	1
Date:	2021
Publisher:	BMC
Place of Publication:	LONDON
ISSN:	1750-1172
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DIAGNOSIS Multiple languages Genetics & Heredity; Medicine, Research & Experimental Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59745