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

Ekici B., Bozkurt B., Tatli B., Caliskan M., Aydinli N., Ozmen M.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.171, sa.3, ss.549-552, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 171 Sayı: 3
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1007/s00431-011-1607-2
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.549-552
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.