Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey
- 544 Downloads
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.
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).
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.
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.
KeywordsCarpal Tunnel Syndrome Intellectual Disability Physical Component Summary Score Physical Component Score Mucopolysaccharidosis
The authors would like to thank all patients and their parents for participating in this study and David Alexander for critical review of the manuscript. Ans Groener and Annemarie van Weijen from the Morquio patient organization for the enthusiasm and the distribution of the questionnaires. Financial support was obtained from the European Union, 7th Framework Programme ‘Euclyd – a European Consortium for Lysosomal Storage Diseases’ [health F2/2008 grant agreement 201678], ZonMw – Dutch organization for healthcare research and innovation of care [Grant 152001003 and 152001004] and the European Union’s Seventh Framework Programme [FP7/2007–2013] under grant agreement n˚ 304999.
Compliance with Ethics Guideline
Conflict of interest
Since August 2004, Ans van der Ploeg has provided consulting services for Genzyme Corp., Cambridge, MA, USA, under an agreement between Genzyme Corp. and Erasmus MC, Rotterdam, the Netherlands. Erasmus MC and inventors for the method of treatment of Pompe disease by enzyme-replacement therapy receive royalty payments pursuant to Erasmus MC policy on inventions, patents and technology transfer. Carla Hollak has acted occasionally as consultant for Genzyme, Shire HGT, Actelion, or Protalix and received reimbursement of travel costs and fees for invited lectures. Jaap Jan Boelens has acted as a consultant for GSK. Marion Brands, Deniz Güngör, Hannerieke van den Hout, Francois Karstens, Esmee Oussoren MD, Iris Plug, Peter van Hasselt, Margot Mulder, Estela Rubio Gozalbo, Jan Smeitink, G. Peter Smit, Frits Wijburg and Hanka Meutgeert declare that they have no conflict of interest.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
- Breau LM, Camfield CS, Camfield P (2010) Development and initial validation of the Batten’s observational pain scale. J Pain Manag 3:283–292Google Scholar
- de Ru MH, Boelens JJ, Das AM, et al (2011)Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis 6: 55-1172-6-55.Google Scholar
- Harmatz P, Ketteridge D, Giugliani R et al (2005) Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 115:e681–e689CrossRefPubMedGoogle Scholar
- Kwaliteitsinstituut voor de Gezondheidszorg, CBO (2007)Richtlijn Pijnmeting en Behandeling bij pijn bij kinderen.Google Scholar
- Lotan M, Ljunggren EA, Johnsen TB, Defrin R, Pick CG, Strand LI (2009) A modified version of the non-communicating children pain checklist-revised, adapted to adults with intellectual and developmental disabilities: sensitivity to pain and internal consistency. J Pain 10:398–407CrossRefPubMedGoogle Scholar
- Neufeld EF, Muenzer J et al (2001) The Mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Professional, New York, pp 3421–3452Google Scholar
- Scholte EM, Van Duijn G, Dijkxhoorn YM, Noens ILJ, van Berckelaer-Onnes IA (2008) Handleiding Vineland Screener 0–6 jaar. PITS, LeidenGoogle Scholar
- Varni JW, Limbers CA, Burwinkle TM (2007) Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL 4.0 Generic Core Scales. Health Qual Life Outcomes 5:43CrossRefPubMedCentralPubMedGoogle Scholar