Table 4.
Critical evaluation of Disease-Specific PROMs using “Quality criteria for measurement properties of health status questionnaires”
| Condition | HR-QoL PROM | Study | Content Validity | Internal Consistency | Criterion Validity | Construct Validity | Reproducibility | Responsiveness | Floor and Ceiling Effects | Interpretability | Score (A-D) |
Used in Studies? | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Agreement | Reliability | ||||||||||||
| Congenital Ichthyosis | IQOL | 13 | + | + (α = 0.94) | N/A | + | + | 0 | 0 | 0 | + (MIC = 9) | C | No |
| FBI | 14 | + | + (α = 0.89) | N/A | ? | + | ? | 0 | 0 | + (MIC = 25) | B | No | |
| Pachyonychia Congenita | IPCRR | 15,16 | – | 0 | N/A | 0 | 0 | 0 | 0 | 0 | 0 | D | No |
| PC QOL | 17 | + | + | N/A | ? | ? | + | 0 | ? | 0 | B | No | |
| Darier Disease | DD-QOL | 18 | + | 0 | N/A | ? | 0 | 0 | 0 | 0 | 0 | D | No |
| Neurofibromatosis Type 2 | NFTI-QoL | 19 | + | + (α = 0.87) | N/A | + | 0 | 0 | 0 | 0 | ? | B | Yes [2] |
| HHT | EQ QOL | 20 | + | + (α = 0.95) | N/A | ? | + | ? | 0 | 0 | + (MIC = 12) | B | Yes [1] |
| Psychosocial in HHT | 21 | – | 0 | N/A | 0 | 0 | 0 | 0 | 0 | 0 | C | No | |
| Hereditary Angioedema | IHAE-QoL | 22 | + | -(α = 0.63–0.88) | N/A | ? | ? | + | 0 | 0 | 0 | C | No |
| HAE-PRO | 23 | + | 0 | N/A | 0 | 0 | 0 | 0 | 0 | 0 | D | No | |
| Epidermolysis Bullosa | QOLEB | 12 | + | + (α = 0.92) | N/A | + | + | ? | 0 | ? | + (MIC = 6) | B | Yes [6] |
| EB-BoD | 24 | + | + (α = 0.9) | N/A | + | ? | + | 0 | 0 | 0 | B | No | |
| Fabry Disease | FSPHPQ | 25 | + | 0 | N/A | 0 | ? | ? | 0 | 0 | 0 | B | No |
| Basal Cell Nevus Syndrome | BCCNS QoL (aBCCdex) | 26,27 | + | + (α = 0.86–0.93) | N/A | + | ? | + | 0 | – | ? | C | No |
| Peutz Jegher Syndrome | PJS QoL Questionnaire | 28 | + | – | N/A | ? | 0 | 0 | 0 | 0 | 0 | C | No |
Abbreviations: IQOL (Ichthyosis QoL Questionnaire), FBI (Family Burden in Ichthyosis Questionnarie) IPCRR (International Pachyonychia Congenita Research Registry), DD-QOL (Darier Disease QoL Questionnaire), NFTI-QoL (Neurofibromatosis Type 2 Impact on QoL), HHT (Hereditary Haemorrhagic Telangiectasia), EQ-QOL (Epistaxis-specific QoL Questionnaire), IHAE-QoL (Inherited Angioedema QoL Questionnaire), FSPHPQ (Fabry Specific Pediatric Health and Pain Questionnaire) BCCNS (Basal Cell Carcinoma Nevus Syndrome), PJS (Peutz Jegher Syndrome)
+ = Positive Rating? = Indeterminate Rating - = Negative Rating 0 = No Information available MIC = Minimal Important Change, α = Cronbach’s Alpha
(Four degrees of recommendation will be made: A) QoL measurement instrument meets all requirements and is recommended for use; B) QoL measure meets two or more quality items, but performance in all other required quality items is unclear, so that the outcome measure has the potential to be recommended in the future depending on the results of further validation studies; C) QoL measure has low quality in at least one required quality criterion (≥1 rating of “minus”) and therefore is not recommended to be used any more; D) QoL measure has (almost) not been validated. Its performance in all or most relevant quality items is unclear, so that it is not recommended to be used until further validation studies clarify its quality)