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Table 2 Clinical studies assessing PROs in patients with MPS, excluding ERT trials

From: Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Reference MPS type N Age (yrs) PRO instrument
[40] MPS IH 41 NAa VABS
[39] MPS IH 47 Mean 10.5 VABS II
CHQ
[34] MPS II 27 5–41 FIM
[31] MPS II 10 Mean 23.2 FIM
Personality tests: Y-G test, Tree-drawing test
Psychological tests: GHQ-60, STAI
[38] MPS II 50 Mean 6.0 Different standardized tests for cognitive, adaptive, language, and motor functions
[35] MPS II 29 Mean 11.5 MPS HAQ
[27] MPS II 96 patients & caregivers Mean 14.2 CHAQ
HS-FOCUSb
CHQ
HUI3
[36, 43] MPS II 73 patients & parents Mean 12.5 PedsQL
Peds QL Family Impact Module
VABS II
[37] MPS II 15 10.8 VABS II
CHQ
BASC-2
[14] MPS IVA 326 1–73 (C)HAQ
[11] MPS IVA 325 Mean 14.5 MPS HAQ
[8, 28] MPS IVA 63 patients
56 caregivers
5–17 years (N = 36)
≥18 years (N = 27)
Patients: EQ-5D, APPT (<18 years)/BPI-SF (≥18 years), fatigue question
Caregivers : caregiver questionnaire, ZBI
[30] MPS IVA 20 NA ASEBA ASR/ OASR
SF-36
BPI
[41] MPS VIA 24 10–17 (N = 10)
18–54 (N = 14)
EQ-5D
[13] MPS VI 121c 4–56 (C)HAQ
[15] MPS I, II, III, IV, VI 55 Median 11.3 MPS-specific questionnaire
NCCPC-Rd
FPS-Rd
Pain VASd
SF-36d
PedsQL
[42] MPS I, II, IVA, IVB, VI 81 ≥18 EQ-5D
  1. amean age at transplant was 21.7 months; mean years of follow-up from transplant was 67.2 months
  2. bHS-FOCUS completed by 53 patients aged ≥12 years
  3. cDisability, Pain and Arthritis scores for 91, 90, and 81 patients ≤18 years, respectively and Disability and Pain scores for 29 and 28 patients >18 years, respectively
  4. dNCCPC-R was completed by parents of patients <8 years or with intellectual disability (N = 35) and the FPS-R by patients 8–18 years with no intellectual disability (N = 11); eight patients completed the Pain VAS, 16 patients over 18 years completed the SF-36; 35 participants (patients or parents) completed the PedsQL
  5. NA not available