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• W2891056557 abstract "In 2017, Cure SMA initiated a yearly membership survey. Surveys were completed for 214 unique individuals with type I spinal muscular atrophy (SMA). Most surveys were completed by parents (97.2%), followed by affected individuals (2.3%), and grandparents (0.5%). At the time of the survey, 50.0% of affected individuals were deceased and the median age of living type I individuals was 8.1 years [range:0-52 years]. Factors associated with death or requiring more than 16 hours of ventilation (an event) are described. Individuals missing a birth, diagnosis, or deceased date and those >28 years of age were excluded, for an analysis sample size of 207. T-tests, chi-square tests, and Fisher's exact tests were used to identify factors associated with an event, death or requiring more than 16 hours of ventilation. Those in the event group (n=151; 73.0%) had a median survival age of 14 months. The event group had a younger average age of diagnosis compared to the non-event group (5.7 months vs. 6.1 months). A lower percentage of those in the event group vs. the non-event group reported use of a BiPAP (bilevel positive airway pressure) machine (27.7% vs. 72.3%; p<0.0001). Those in the event group were also less likely to have participated in a clinical trial than those in the non-event group (26.3% vs. 73.7%; p=0.001). Among a subset of participants with a self-reported SMN2 gene copy number, we found those in the event group were more likely than those in the non-event group to have one copy of the SMN2 gene (19.7% vs. 0.0%, p=0.03). This study provides a broad perspective of survival and ventilation among individuals with type I SMA before widespread availability of treatment, among an older and longer-lived cohort than typically described in the literature. Results suggest that BiPAP use and clinical trial participation can have positive impacts for individuals with type I SMA." @default.
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• W2891056557 date "2018-10-01" @default.
• W2891056557 modified "2023-09-27" @default.
• W2891056557 title "SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES" @default.
• W2891056557 doi "https://doi.org/10.1016/j.nmd.2018.06.108" @default.
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