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• W2005083847 abstract "Context: Spinal muscular atrophy type 1, an autosomal recessive motor neuron disease, is a leading genetic cause of death in infancy and early childhood. Objective: To determine whether the early initiation of noninvasive respiratory interventions is associated with longer survival. Design: Single-institution retrospective cohort study identified children with spinal muscular atrophy type 1 from January 1, 2002 to May 1, 2009 who were followed for 2.3 mean yrs. Setting: Tertiary care children’s hospital and outpatient clinics in a vertically integrated healthcare system. Patients or Other Participants: Forty-nine children with spinal muscular atrophy type 1 were grouped according to the level of respiratory support their caregivers chose within the first 3 months after diagnosis: proactive respiratory care (n = 26) and supportive care (n = 23). Interventions: Proactive respiratory care included bilevel noninvasive ventilation during sleep and twice a day cough assist while supportive respiratory care included suctioning, with or without supplemental oxygen. Measurements and Main Results: Kaplan–Meier survival curves were assessed based on intention to treat. Children treated with early proactive respiratory support had statistically longer survival compared to supportive care (log rank 0.047); however, the adjusted hazard ratio for survival was not statistically different (2.44 [95% confidence interval 0.84-7.1]). Children in the proactive group were more likely to be hospitalized for respiratory insufficiency (83% vs. 46%) and had shortened time after diagnosis until first hospital admission for respiratory insufficiency (median 118 vs. 979 days). Conclusion: Longer survival time with spinal muscular atrophy type 1 is associated with early, noninvasive respiratory care interventions after diagnosis." @default.
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• W2005083847 date "2012-05-01" @default.
• W2005083847 modified "2023-10-01" @default.
• W2005083847 title "Spinal muscular atrophy type 1" @default.
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• W2005083847 doi "https://doi.org/10.1097/pcc.0b013e3182388ad1" @default.
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