Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

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?
Condition	HR-QoL PROM	Study	Content Validity	Internal Consistency	Criterion Validity	Construct Validity	Agreement	Reliability	Responsiveness	Floor and Ceiling Effects	Interpretability	Score (A-D)	Used in Studies?
Congenital Ichthyosis	IQOL	13	+	+ (α = 0.94)	N/A	+	+	0	0	0	+ (MIC = 9)	C	No
Congenital Ichthyosis	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
Pachyonychia Congenita	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]
HHT	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
Hereditary Angioedema	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]
Epidermolysis Bullosa	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)

ISSN: 1750-1172