title: Late-onset Pompe disease primarily affects quality of life in physical health domains.
abstract: OBJECTIVE
  To investigate quality of life in an international population of patients with late-onset Pompe disease.
  
  
  METHODS
  Data on quality of life (SF-36), age, sex, disease duration, wheelchair use, and use of artificial ventilation were collected for 210 adults with Pompe disease from Australia, Germany, the Netherlands, the United Kingdom, and the United States. SF-36 scores were compared between countries and related to patient characteristics. In addition, for the Dutch subgroup (n = 51), comparisons with the general population and 1-year follow-up assessments were performed.
  
  
  RESULTS
  No significant differences between countries were found for the four physical health scales. Mean scores on the vitality, role functioning-emotional, and mental health scale differed between countries, but these differences were not consistent. Wheelchair use was associated with lower physical and social functioning scores (B = -23.6 and -15.1, p < 0.001), and the use of artificial ventilation with lower physical functioning scores (B = -8.4, p = 0.004). Patients reported significantly poorer quality of life than the general population on the physical functioning, role functioning-physical, general health, vitality, and social functioning scales. No significant differences in SF-36 scores were found between the baseline and 1-year follow-up measurement.
  
  
  CONCLUSIONS
  Patients with late-onset Pompe disease are, on average, markedly affected on the physical health domains of quality of life, but score only slightly lower than the general population on the mental health domains.
authors.affiliation: Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
authors.forename: M L C
authors.initials: ML
authors.lastname: Hagemans
authors.forename: A C J W
authors.initials: AC
authors.lastname: Janssens
authors.forename: L P F
authors.initials: LP
authors.lastname: Winkel
authors.forename: K A
authors.initials: KA
authors.lastname: Sieradzan
authors.forename: A J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: P A
authors.initials: PA
authors.lastname: Van Doorn
authors.forename: A T
authors.initials: AT
authors.lastname: Van der Ploeg
mesh_terms: D017668:Age of Onset; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011594:Psychometrics; D011788:Quality of Life