title: Home mechanical ventilation in childhood-onset hereditary neuromuscular diseases: 13 years' experience at a single center in Korea.
abstract: BACKGROUND
  Children with hereditary neuromuscular diseases (NMDs) are at a high risk of morbidity and mortality related to respiratory failure. The use of home mechanical ventilation (HMV) has saved the lives of many children with NMD but, due to a lack of studies, dependable guidelines are not available. We drew upon our experience to compare the various underlying NMDs and to evaluate HMV with regard to respiratory morbidity, the proper indications and timing for its use, and to develop a policy to improve the quality of home noninvasive ventilation (NIV).
  
  
  METHODS
  We retrospectively analyzed the medical records of 57 children with childhood-onset hereditary NMDs in whom HMV was initiated between January 2000 and May 2013 at Seoul National University Children's Hospital. The degree of respiratory morbidity was estimated by the frequency and duration of hospitalizations caused by respiratory distress.
  
  
  RESULTS
  The most common NMD was spinal muscular atrophy (SMA, n = 33). Emergent mechanical ventilation was initiated in 44% of the patients before the confirmed diagnosis, and the indicators of pre-HMV respiratory morbidity (e.g., extubation trials, hypoxia, hospitalizations, and intensive care unit stay) were greater in these patients than in others. The proportion of post-HMV hospitalizations (range, 0.00-0.52; median, 0.01) was lower than that of pre-HMV hospitalizations (0.02-1.00; 0.99) (P < 0.001). Eight patients were able to maintain home NIV. The main causes of NIV failure were air leakage and a large amount of airway secretions.
  
  
  CONCLUSIONS
  The application of HMV helped reduce respiratory morbidity in children with childhood-onset hereditary NMD. Patients with SMA type I can benefit from an early diagnosis and the timely application of HMV. The choice between invasive and noninvasive HMV should be based on the patient's age and NIV trial tolerance. Systematic follow-up guidelines provided by a multidisciplinary team are needed.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Han
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: June Dong
authors.initials: JD
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Bongjin
authors.initials: B
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Yu Hyeon
authors.initials: YH
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Dong In
authors.initials: DI
authors.lastname: Suh
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea; Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea; Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006699:Home Care Services; D006760:Hospitalization; D006801:Humans; D007223:Infant; D008297:Male; D009468:Neuromuscular Diseases / Q000401:mortality*; D063087:Noninvasive Ventilation / Q000379:methods; D056910:Republic of Korea; D012121:Respiration, Artificial / Q000379:methods; D012131:Respiratory Insufficiency / Q000401:mortality; D012189:Retrospective Studies; D055815:Young Adult
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