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Erschienen in: European Journal of Pediatrics 3/2012

01.03.2012 | Original Paper

Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey

verfasst von: Barış Ekici, Betül Bozkurt, Burak Tatlı, Mine Çalışkan, Nur Aydınlı, Meral Özmen

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2012

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Abstract

The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30–726 days). The average patient age at diagnosis was 129 days (33–297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan (p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan (p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average (p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. Conclusion: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.
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Metadaten
Titel
Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey
verfasst von
Barış Ekici
Betül Bozkurt
Burak Tatlı
Mine Çalışkan
Nur Aydınlı
Meral Özmen
Publikationsdatum
01.03.2012
Verlag
Springer-Verlag
Erschienen in
European Journal of Pediatrics / Ausgabe 3/2012
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-011-1607-2

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