title: Development of a disease-specific disability instrument for Pompe disease.
abstract: OBJECTIVE
  The purpose of this study was to modify the Paediatric Evaluation of Disability Inventory (PEDI) to create a Pompe disease-specific disability instrument for use in clinical trials and natural history studies.
  
  
  METHODS
  PEDI item content was revised to include self-care and mobility items appropriate for children and youth with Pompe disease. Data were collected on 30 individuals with Pompe disease (mean age 7.7+/-5.6 years; range 0.4-22.1 years) by parent proxy through telephone interviews. New items were merged with original PEDI items using Rasch rating scale methods.
  
  
  RESULTS
  The Pompe-PEDI extended the content range and scoring precision of the original PEDI. Construct validity was demonstrated and test-re-test reliability was excellent.
  
  
  CONCLUSIONS
  The Pompe-PEDI is a reliable and valid instrument to assess and monitor the functional changes of children and youth with Pompe disease.
authors.affiliation: Center for Rehabilitation Effectiveness, Sargent College of Health and Rehabilitation Sciences, Boston University, 635 Commonwealth Avenue, Boston, MA 02215-1605, USA. smhaley@bu.ed
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Haley
authors.forename: Maria A
authors.initials: MA
authors.lastname: Fragala
authors.forename: Robert
authors.initials: R
authors.lastname: Aseltine
authors.forename: Pengsheng
authors.initials: P
authors.lastname: Ni
authors.forename: Alison M
authors.initials: AM
authors.lastname: Skrinar
mesh_terms: D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D006009:Glycogen Storage Disease Type II; D006801:Humans; D007223:Infant; D011795:Surveys and Questionnaires