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Table 4 Frequency of impacts in LOPD and associated disturbance rating

From: Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective

Impact concepts descriptors for LOPD Total mentions (N = 13) Impact disturbance, mean (SD) (0 = not disturbing at all; 10 = extremely disturbing)
Muscle and mobility
 Difficulty rising from an armchair
*Difficulty rising from a sitting position
10 (76.9%) 6.8 (2.6)
 Difficulty with stairs (primarily going up) *Difficulty climbing stairs 9 (69.2%) 7.0 (3.1)
 Change in the way you walk (“Pompe waddle”) 8 (61.5%) 5.5 (3.4)
 Loss of balance 8 (61.5%) 5.9 (2.6)
 Difficulty getting upright after bending 8 (61.5%) 5.8 (3.0)
 Difficulty rising from a squatting position 8 (61.5%) 6.5 (4.1)
 Difficulty playing sports 7 (53.8%) 7.3 (2.7)
 Cannot walk without assistance
*Can walk with assistance (from another person or a device, like a cane or walker)
6 (46.2%) 7.8 (1.7)
 Reduced ability to move independently 5 (38.5%) 6.4 (2.9)
 Cannot walk at all 4 (30.8%) 8.5 (1.7)
 Can walk but slower and shorter distances than before 3 (23.1%) 6.7 (3.4)
 Falling 2 (15.4%) 9.5 (0.5)
 Difficulty getting up from a fall 2 (15.4%) 10.0 (0.0)
 Cannot lift arms all the way up 1 (7.7%) 7.0 (0.0)
 Difficulty walking in the dark 1 (7.7%) 8.0 (0.0)
 Need to use standing frame 1 (7.7%)
Eating
 Unwanted weight gain/difficult losing weight
*Unwanted weight gain
*Difficulty losing weight
10 (76.9%) 5.8 (2.4)
 Difficulty chewing, swallowing, etc 9 (69.2%) 3.7 (2.1)
 Cannot stay vegetarian 1 (7.7%) 4.0 (0.0)
Activities of daily living
 Reduced ability to perform household tasks 12 (92.3%) 5.4 (2.6)
 Reduced ability to participate in leisure activities I used to be able to 11 (84.6%) 6.6 (2.3)
 Reduced ability to care for oneself (showering, dressing, etc.) 5 (38.5%) 8.3 (1.2)
 Cannot participate with family in their leisure activities 1 (7.7%) 10.0 (0.0)
 Reduced/change in ability to write music 1 (7.7%) 7.0 (0.0)
 Use “urine director” to go to the bathroom 1 (7.7%) 2.0 (0.0)
 Need to be very regulated and methodical about daily activities/more planning required 1 (7.7%) 2.0 (0.0)
 Reduced ability to participate in social activities
*Reduced ability to participate in social/family activities
11 (84.6%) 5.4 (3.4)
 Change in body image 7 (53.8%) 3.9 (1.9)
 Depression 7 (53.8%) 3.6 (1.5)
 Anxiety 6 (46.2%) 7.0 (2.2)
 Feels like a burden to family/others 6 (46.2%) 4.5 (3.5)
 Difficulty coping 2 (15.4%) 5.5 (2.5)
 Reduced ability to effectively communicate 1 (7.7%) 4.0 (0.0)
 Mom felt guilty because of genetic pre-disposition 1 (7.7%) 2.0 (0.0)
 Change in what she can do as a wife and mother to help take care of her family 1 (7.7%) 2.0 (0.0)
 Getting used to accepting the disease 1 (7.7%) 8.0 (0.0)
 Worry about my future 1 (7.7%) 3.0 (0.0)
Other
 Financial difficulties 8 (61.5%) 6.8 (2.9)
 Reduced ability to work/study 9 (69.2%) 7.0 (3.4)
 Difficulty traveling (by car, bus, plane) 9 (69.2%) 5.9 (3.2)
 Sexual issues (e.g., need to use different positions) 7 (53.8%) 5.7 (3.7)
 Sleep problems (e.g., need to get up frequently) 6 (46.2%) 4.2 (2.5)
 Difficulty being away from home 1 (7.7%) 8.0 (0.0)
 Question whether able to take care of young children 1 (7.7%) 9.0 (0.0)
 Uncertainty whether getting pregnant will enhance disease progression 1 (7.7%) 6.0 (0.0)
 Not as mentally sharp 1 (7.7%) 4.0 (0.0)
 Challenge of finding good doctors who understand disease 1 (7.7%) 9.0 (0.0)
 Osteoporosis 1 (7.7%) 9.0 (0.0)
  1. LOPD late-onset Pompe disease, SD standard deviation
  2. *Denotes wording applied to third round of interviews only (Additional file 1)
  3. Impact disturbance rating was performed by three patients