Pompe disease and physical disability.
This study describes the physical disability of 30 children and adolescents with Pompe disease (23 males, 7 females; mean age 7 years 7 months, SD 5 years 6 months; range 6 months to 22 years 1 month) using a disease-specific functional instrument. Data were collected by telephone interview with parents using a modified version of the Pediatric Evaluation of Disability Inventory. The sample included mostly males of Caucasian origin, recruited from several countries. Disability profiles in mobility and self-care skills were heterogeneous because functional status was not related to chronological age. Most children had severe functional deficits: nearly two-thirds of the sample was non-ambulatory and could not perform age-expected self-care skills. Three-quarters of the children used a ventilator. Two children were able to participate in age-appropriate sports and peer activities. Although the mean chronological age of the sample was 7 years 7 months, the mean age-performance for self-care skills was under 2 years 6 months and under 1 year 6 months for mobility. Implications of physical disability findings for individuals with Pompe disease are discussed.
Haley
Stephen M
SM
Department of Rehabilitation Sciences, Center for Rehabilitation Effectiveness, Sargent College of Health and Rehabilitation Sciences, Boston University, Boston, Massachusetts 02215-1605, USA. smhaley@bu.edu
Fragala
Maria A
MA
Skrinar
Alison M
AM
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002669:Child Welfare; D002675:Child, Preschool; D004185:Disability Evaluation; D019988:Children with Disabilities / Q000145:classification* / Q000534:rehabilitation; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000453:epidemiology / Q000503:physiopathology* / Q000534:rehabilitation; D006801:Humans; D007223:Infant; D007229:Infant Welfare; D008297:Male; D009043:Motor Activity / Q000502:physiology; D015588:Observer Variation; D011597:Psychomotor Performance / Q000502:physiology; D012648:Self Care