title: Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I.
abstract: BACKGROUND
  There are widely discrepant views on the respiratory management of infants with spinal muscular atrophy (SMA) type I. Typically, management is palliative.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Sleep and Ventilation Unit, Clinical and Academic Department of Sleep and Breathing, Royal Brompton Hospital, Sydney Street, London, UK. m.chatwin@rbht.nhs.uk
authors.forename: M
authors.initials: M
authors.lastname: Chatwin
authors.forename: A
authors.initials: A
authors.lastname: Bush
authors.forename: A K
authors.initials: AK
authors.lastname: Simonds
mesh_terms: D003131:Combined Modality Therapy; D005260:Female; D005660:Funnel Chest / Q000209:etiology / Q000473:pathology / Q000628:therapy; D018575:Home Care Services, Hospital-Based; D006801:Humans; D007223:Infant; D007327:Insufflation / Q000379:methods*; D008297:Male; D010166:Palliative Care / Q000379:methods; D026741:Physical Therapy Modalities; D011175:Positive-Pressure Respiration / Q000379:methods*; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000628:therapy*; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications*; D016896:Treatment Outcome