Development of a disease-specific disability instrument for Pompe disease.
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.
Haley
Stephen M
SM
Center for Rehabilitation Effectiveness, Sargent College of Health and Rehabilitation Sciences, Boston University, 635 Commonwealth Avenue, Boston, MA 02215-1605, USA. smhaley@bu.ed
Fragala
Maria A
MA
Aseltine
Robert
R
Ni
Pengsheng
P
Skrinar
Alison M
AM
D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D006009:Glycogen Storage Disease Type II; D006801:Humans; D007223:Infant; D011795:Surveys and Questionnaires