title: Home sleep study characteristics in patients with mucopolysaccharidosis.
abstract: BACKGROUND
  Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by the deficiency of hydrolases involved in the degradative pathway of glycosaminoglycans. In MPS, upper airway obstruction may result from multiple causative factors which may impact severely upon morbidity and mortality.
  
  
  METHODS
  We evaluated upper airway obstructive disease and related clinical findings through home sleep study in 19 patients (11 with MPS VI, 4 with MPS I, 4 with MPS II) with MPS followed at Gazi University Pediatric Metabolic Unit. Patients underwent home-based sleep measurements, and sleep respiratory problems were asked in a detailed clinical history. Measurements of apnea, apnea-hypopnea index (AHI), hypopnea index, oxygen desaturation index, and minimal oxygen saturation were obtained through home sleep study.
  
  
  RESULTS
  For 19 children, the disorder was normal in 1, mild (AHI=1.5-5/h) in 5, moderate (AHI=5-10/h) in 2, and severe (AHI>10/h) in 11. The prevalence of OSA was 94.7 % (18/19) in patients with MPS. Snoring, witnessed apnea, pectus carinatum, and macroglossia were the main clinical findings. Echocardiograms showed evidence of pulmonary hypertension in 13 patients.
  
  
  CONCLUSIONS
  Home sleep study is a quick and accessible screening test to determine the abnormalities of breathing during sleep and enables clinicians to take necessary action for patients with severe manifestations.
authors.affiliation: Pediatric Metabolic Unit, Gazi University Hospital, Ankara, Turkey, cskasapkara@gmail.com.
authors.forename: Çiğdem Seher
authors.initials: ÇS
authors.lastname: Kasapkara
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.forename: Ayşe Tana
authors.initials: AT
authors.lastname: Aslan
authors.forename: Alev
authors.initials: A
authors.lastname: Hasanoğlu
authors.forename: Fatih Süheyl
authors.initials: FS
authors.lastname: Ezgü
authors.forename: Aynur
authors.initials: A
authors.lastname: Küçükçongar
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tunca
authors.forename: Oğuz
authors.initials: O
authors.lastname: Köktürk
mesh_terms: D000293:Adolescent; D000402:Airway Obstruction / Q000175:diagnosis / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006699:Home Care Services; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000453:epidemiology*; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000453:epidemiology*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000453:epidemiology*; D017286:Polysomnography / Q000295:instrumentation; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis* / Q000453:epidemiology*; D014421:Turkey