TY - JOUR T1 - Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I JF - Archives of Disease in Childhood JO - Arch Dis Child SP - 426 LP - 432 DO - 10.1136/adc.2009.177832 VL - 96 IS - 5 AU - M Chatwin AU - A Bush AU - A K Simonds Y1 - 2011/05/01 UR - http://adc.bmj.com/content/96/5/426.abstract N2 - Background There are widely discrepant views on the respiratory management of infants with spinal muscular atrophy (SMA) type I. Typically, management is palliative. Design A descriptive study of interventions and investigations is reported that were offered to a cohort of 13 children with SMA type I referred to our centre. Interventions and investigations included sleep studies, provision of non-invasive positive pressure ventilation (NIPPV) for ventilatory support/dependency and for physiotherapy and the use of mechanical insufflation/exsufflation (MI-E). Results NIPPV was provided for the following indications: continuous positive airways pressure flow driver dependency (n=3), nocturnal hypoventilation (n=3), to enable successful extubation (n=2), in anticipation of respiratory decompensation (n=3), and oxygen dependency/decompensation (n=2). NIPPV and MI-E were used for successful protocol-led extubations (n=9) but not non protocol-led successes (n=3). NIPPV was essential for discharge home in patients with ventilatory dependency (n=7) and was used for palliation of respiratory symptoms (n=4). Chest wall shape improved with NIPPV. The parents of children who died (n=5) were positive about the use of these techniques. Conclusion NIPPV can be used to facilitate discharge home, and MI-E is helpful in this group. This symptom and goal-directed approach can be used to inform medical decision making and to help parents make informed choices about the appropriateness of respiratory interventions in SMA type I. ER -