title: Survival in SMA type I: a prospective analysis of 34 consecutive cases.
abstract: Thirty-four children with genetically proven SMA type I (age at onset <6 months, unable to sit during study period) were included in a 3-year prospective cohort study and neurologically followed-up until death or the end of the study. At the end of the study period 31/34 children had died. The median age at death was 176 days (95% Confidence Interval 150-214 days), the median survival from the time of diagnosis was 158 days (95% CI 137-232 days). The median survival after diagnosis did not differ significantly between children diagnosed at birth (median survival 137 days, 95% CI 111-232 days) and those diagnosed later (median survival 159 days, 95% CI 141-256), implying that SMA I cases with different ages of onset show the same progression rate of the disease. The number of SMN2 copies was not clearly correlated with survival duration, possibly because of lack of statistical power due to the small number of cases with 1 or 3 SMN2 copies. The three cases alive at the end of the study had either three or an unknown number of SMN2 copies, which is in agreement with previously described cases showing longer survival with increasing number of SMN2 copies. All deceased children died of respiratory insufficiency and/or an intercurrent lung infection, indicating that the susceptibility of the child with SMA type I to respiratory infections plays an important role in determining the survival.
authors.affiliation: Department of Pediatrics, Emma Children Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. j.m.cobben@amc.uva.nl
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
authors.forename: H H
authors.initials: HH
authors.lastname: Lemmink
authors.forename: I
authors.initials: I
authors.lastname: Snoeck
authors.forename: P A
authors.initials: PA
authors.lastname: Barth
authors.forename: J H
authors.initials: JH
authors.lastname: van der Lee
authors.forename: M
authors.initials: M
authors.lastname: de Visser
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D016001:Confidence Intervals; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D011446:Prospective Studies; D016601:RNA-Binding Proteins / Q000235:genetics; D012189:Retrospective Studies; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000453:epidemiology* / Q000235:genetics / Q000401:mortality*; D016019:Survival Analysis; D055540:Survival of Motor Neuron 2 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein