title: Sleep disordered breathing in spinal muscular atrophy.
abstract: Sleep disordered breathing is a common but under-diagnosed complication causing sleep disturbance and daytime symptoms in children with spinal muscular atrophy. Non-invasive (positive pressure) ventilation is an established treatment of respiratory failure; its role in treatment of sleep disordered breathing though remains controversial. Aim of this study was to verify the hypothesis that nocturnal non-invasive ventilation has beneficial impact on breathing during sleep, sleep quality and daytime complaints in children with spinal muscular atrophy. Twelve children with spinal muscular atrophy type I or II (7.8+/-1.9 years) underwent polysomnography and were asked to fill out a symptom questionnaire. Seven patients (six with spinal muscular atrophy I and one with spinal muscular atrophy II) had sleep disordered breathing and received non-invasive ventilation during sleep. Five less severely affected patients (one with spinal muscular atrophy I and four with spinal muscular atrophy II) had no sleep disordered breathing and served as reference group. Patients were restudied after 6-12 months. In patients with sleep disordered breathing both sleep architecture and disease related symptoms were significantly worse than in the reference-group. Non-invasive ventilation during sleep completely eliminated disordered breathing, normalized sleep architecture and improved symptoms (P<0.05 for all). In children with spinal muscular atrophy sleep disordered breathing may cause relevant impairment of sleep and well-being. Both can be highly improved by nocturnal non-invasive ventilation.
authors.affiliation: Department of General Pediatrics and Neuropediatrics, University of Essen, Children's Hospital, Hufelandstr. 55 D-45122 Essen, Germany. uwe.mellies@uni-essen.de
authors.forename: Uwe
authors.initials: U
authors.lastname: Mellies
authors.forename: Christian
authors.initials: C
authors.lastname: Dohna-Schwake
authors.forename: Florian
authors.initials: F
authors.lastname: Stehling
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
mesh_terms: D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins; D017060:Patient Satisfaction; D017286:Polysomnography; D011175:Positive-Pressure Respiration / Q000379:methods / Q000706:statistics & numerical data*; D011788:Quality of Life; D016601:RNA-Binding Proteins; D020127:Recovery of Function / Q000502:physiology; D055532:SMN Complex Proteins; D012891:Sleep Apnea Syndromes / Q000209:etiology / Q000503:physiopathology* / Q000628:therapy*; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins