title: Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
abstract: BACKGROUND
  While clinical observations suggest that many patients with mucopolysaccharidosis (MPS) experience chronic pain, few studies have assessed its extent and impact. We therefore investigated its prevalence in patients with all types of MPS in the Netherlands. We also examined the association between pain and health related quality of life (HRQoL) and other clinical variables.
  
  
  METHODS
  We conducted a nationwide MPS survey that used questionnaires on MPS and disease-related symptoms (MPS-specific questionnaire), developmental level (Vineland Screener 0-6 years), quality of life (PedsQl and SF-36), and disability (Childhood Health Assessment Questionnaire). Depending on their age and developmental level, patients or their parents were asked to assess pain by keeping a pain diary for five consecutive days: either the Non-communicating Children's Pain Checklist - Revised (3-18 years intellectually disabled and children <8 years), the VAS-score (> 18 years), or the Faces Pain Scale - Revised (8-18 years).
  
  
  RESULTS
  Eighty-nine MPS patients were invited, 55 of whom agreed to participate (response rate 62 %; median age 10.9 years, range 2.9-47.2 years). They covered a wide spectrum in all age groups, ranging from no pain to severe pain. Forty percent scored above the cut-off value for pain. Most reported pain sites were the back and hips. While the MPS III group experienced the highest frequency of pain (52.9 %), 50 % of patients with an intellectual disability seemed to experience pain, versus 30 % of patients with a normal intelligence. MPS patients scored much lower (i.e., more pain) than a random sample of the Dutch population on the bodily pain domain of the SF-36 scale and the PedsQl.
  
  
  CONCLUSIONS
  With or without intellectual disabilities, many MPS patients experience pain. We recommend that standardized pain assessments are included in the regular follow-up program of patients with MPS.
authors.affiliation: Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
authors.forename: Marion M G
authors.initials: MM
authors.lastname: Brands
authors.forename: Deniz
authors.initials: D
authors.lastname: Güngör
authors.forename: Johanna M P
authors.initials: JM
authors.lastname: van den Hout
authors.forename: Francois P J
authors.initials: FP
authors.lastname: Karstens
authors.forename: Esmee
authors.initials: E
authors.lastname: Oussoren
authors.forename: Iris
authors.initials: I
authors.lastname: Plug
authors.forename: Jaap Jan
authors.initials: JJ
authors.lastname: Boelens
authors.forename: Peter M
authors.initials: PM
authors.lastname: van Hasselt
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Margot F
authors.initials: MF
authors.lastname: Mulder
authors.forename: Estela
authors.initials: E
authors.lastname: Rubio Gozalbo
authors.forename: Jan A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: G Peter A
authors.initials: GP
authors.lastname: Smit
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Hanka
authors.initials: H
authors.lastname: Meutgeert
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000293:Adolescent; D000328:Adult; D018771:Arthralgia / Q000175:diagnosis / Q000453:epidemiology* / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D059350:Chronic Pain / Q000175:diagnosis / Q000453:epidemiology* / Q000523:psychology; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D004185:Disability Evaluation; D005260:Female; D019538:Health Care Surveys; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000453:epidemiology* / Q000523:psychology; D009426:Netherlands / Q000453:epidemiology; D010147:Pain Measurement; D019989:Persons with Intellectual Disabilities / Q000523:psychology; D015995:Prevalence; D011788:Quality of Life; D011795:Surveys and Questionnaires; D055815:Young Adult