Table 1 Characteristics of included studies
From: Patient-reported outcomes in Gaucher’s disease: a systematic review
Author (Year) (Reference) | Study design | Disease types (1, 2 and 3) | Sample size | PROM | Quality assessment |
|---|---|---|---|---|---|
Verderese C L (1993) [41] | Pre- and post-intervention | 1 | 12 | Self-made questionnaire | *** Small sample size and lack of inclusion and exclusion criteria; Measures not validated and reliability tested |
Damiano A M (1998) [20] | Cross-sectional | 1 | 212 | SF-36 | ***** |
Hayes R P (1998) [13] | Qualitative interview | 1 | 16 | - | **** Insufficient quotes provided to prove the theme |
Masek B J (1999) [15] | Pre- and post-intervention | 1 | 25 | SF-36; SCL-90-R; AAC | ***** |
Pastores G M (2003) [39] | Cross-sectional | 1 | 55 | SF-36 | *** lack of inclusion and exclusion criteria; Not reported with the survey method |
Giraldo P (2005) [14] | Pre- and post-intervention | 1 | 69 | SF-36 | ***** |
Packman W (2006) [16] | Cross-sectional | NA | 28 | MMPI-2 | ***** |
Elstein D (2007) [25] | RCT | 1 | 36 | SF-36 | **** Open-label clinical trial |
Weinreb N J (2007) [42] | Pre- and post-intervention | 1 | 32 | SF-36 | **** > 20% drop-out rate |
Packman W (2010) [6] | Qualitative description | NA | 28 | - | **** Unclear methods for qualitative data analysis |
Deegan P B (2011) [30] | Cross-sectional | 1&3 | 100 | EQ-5D; BPI | ***** |
Samuels N (2012) [45] | Pre- and post-intervention | NA | 12 | SF-12; FACIT-F; | *** Small sample size and lack of inclusion and exclusion criteria; Failure to control confounders |
Deroma L (2013) [28] | Cohort | 1 | 34 | SWB | **** Measures not validated and reliability tested |
Oliveira F L (2013) [32] | Cross-sectional | 1&3 | 21 | SF-36 | ***** |
Kamusheva M (2013) [31] | Cross-sectional | NA | 3 | SF-36 | ** Small sample size and lack of inclusion and exclusion criteria; Failure to control confounders; Not reported with the survey method |
Medrano-Engay B (2014) [27] | RCT | 1 | 8 | SF-36 | ** Not properly randomized Open-label clinical trial > 20% drop-out rate |
Giraldo P (2016) [17] | Cross-sectional | 1 | 108 | SF-36; VAS for pain | ***** |
Devigili G (2017) [38] | Cross-sectional | 1 | 25 | NPSI | **** lack of inclusion and exclusion criteria; |
Cerón-Rodríguez M (2018) [43] | Pre- and post-intervention | 1 | 5 | LPPS | *** Small sample size and lack of inclusion and exclusion criteria; Risk of bias in parental proxy responses |
Remor E (2018) [7] | Cross-sectional | NA | 20 | PedsQL 4.0 | **** Risk of bias in parental proxy responses; |
Lukina E (2019) [26] | RCT | 1 | 26 | SF-36; FFS | *** Open-label clinical trial; > 20% drop-out rate |
Roca-Espiau M (2019) [33] | Cross-sectional | 1,2&3 | 25 | SF-36 | ***** |
Wilke M (2019) [40] | Cross-sectional | 1 | 23 | MoCA; ESS; BDI; UMSARS; RBD; | ***** |
Alioto A G (2020) [34] | Cross-sectional | 1 | 32 | PedsQL 4.0; BASC-2 | ***** |
Cohen D (2020) [29] | Cohort | NA | 48 | EQ-5D; VAS for pain; HHS | ***** |
Dinur T (2020) [46] | Cross-sectional | 1 | 192 | GD1-PROM | ***** |
Tantawy, A. A. G (2020) [18] | Cross-sectional | 1&3 | 24 | BDI | ***** |
Li HM* (2020) [35] | Cross-sectional | 1 | 22 | SF-36 | ***** |
De Mello R a F(2021) [36] | Cross-sectional | NA | 18 | SF-36 | ***** |
Hu J (2021) [19] | Cross-sectional | NA | 5 | EQ-5D | *** Small sample size and lack of inclusion and exclusion criteria; Risk of bias in parental proxy responses; |
Qi X (2021) [37] | Cross-sectional | NA | 40 | SSRS; PSQI; SF-36 | ***** |
Elstein D (2022) [21] | Validation | 1&3 | 124 | GD-1 PROM; SF-36 | ***** |
Lu H * (2022) [44] | Pre- and post-intervention | NA | 6 | SF-36 | *** Small sample size and lack of inclusion and exclusion criteria; Risk of bias in parental proxy responses; |