i.e. that postzygotic mutations in other genes may cause similar phenotypes. The mechanism explaining how different phenotypes, heterochromia of the scalp and woolly hair naevus are caused by the same mutation requires gene expression studies at a single-cell level.
Summary
Background
The OVAMA (Outcome Measures for Vascular Malformations) project determined quality of life (QoL) as a core outcome domain for patients with vascular malformations. In order to measure how current therapeutic strategies alter QoL in these patients, a patient‐reported outcome measurement (PROM) responsive to changes in QoL is required.
Objectives
To assess the responsiveness of two widely used generic QoL PROMs, the Medical Outcomes Study Short Form 36 (SF‐36) and Skindex‐29, in adult patients with vascular malformations.
Methods
In an international multicentre prospective study, treated and untreated patients completed the SF‐36 and Skindex‐29 at baseline and after a follow‐up period of 6–8 weeks. Global rating of change (GRC) scales assessing various QoL‐related outcome domains were additionally completed. Per subscale, responsiveness was assessed using two methods: by testing hypotheses on expected correlation strength between change scores of the questionnaires and the GRC scales, and by calculating the area under the receiver operating characteristics curve (AUC). The questionnaires were considered responsive if ≥ 75% of the hypotheses were confirmed or if the AUC was ≥ 0·7.
Results
Eighty‐nine participants were recruited in three centres in the Netherlands and the U.S.A., of whom 67 completed all baseline and follow‐up questionnaires. For all subscales of the SF‐36 and Skindex‐29, < 75% of the hypotheses were confirmed and the AUC was < 0·7.
Conclusions
Our findings suggest that the SF‐36 and Skindex‐29 seemed unresponsive to change in QoL. This suggests that alternative PROMs are needed to measure – and ultimately improve – QoL in patients with vascular malformations.
What's already known about this topic?
Quality of life is often impaired in patients with vascular malformations.
Quality of life is considered a core outcome domain for evaluating treatment of vascular malformations.
To measure the effect of treatment on quality of life, a patient‐reported outcome measure is required that is responsive to changes in quality of life.
What does this study add?
This is the first study assessing the responsiveness of quality‐of‐life measures in patients with vascular malformations.
The results seem to indicate that the Medical Outcomes Study Short Form 36 (SF‐36) and Skindex‐29 are not responsive to changes in quality of life in patients with vascular malformations.
What are the clinical implications of this work?
Medical Outcomes Study Short Form 36 (SF‐36) and Skindex‐29 are not ideal to assess the effect on quality of life over time, of treatment strategies for peripheral vascular malformations.
eripheral vascular malformations are congenital anomalies of the vascular or lymphatic system, often visible as a mass different in color and texture than normal skin. Present at birth, the abnormally dilated vessels grow proportionally with the body; they are noninvasive, but may expand due to trauma or hormonal changes. The lesions are classified according to vessel type and flow speed. 1 Distinguished are the high-flow arteriovenous malformations, the low-flow capillary, venous, and lymphatic malformations, and combined lesions. Symptoms experienced by patients vary by type and localization and include disfigurement, pain, bleeding, functional impairment, thrombotic complications, and an overall decreased quality of life as compared with the general population. [1][2][3][4][5][6][7] Management of vascular malformations is often challenging and usually requires a multidisciplinary team of specialists. Many nonsurgical
Summary
Background
The OVAMA (
O
utcome
M
easures for
VA
scular
MA
lformations) project determined quality of life (QoL) as a core outcome domain for evaluating treatment effect in vascular malformations. To correctly evaluate treatment effect on QoL, patient-reported outcome measures (PROMs) are needed that are responsive to changes. In children with vascular malformations, we explored if two widely used PROMs were responsive to changes: the Pediatric Quality of Life Inventory (PedsQL) and the Children's Dermatology Life Quality Index (CDLQI).
Methods
In an international multicenter prospective study, conservatively and invasively treated children completed the PedsQL and CDLQI at baseline and after follow-up of 6–8 weeks. At follow-up, change in health was assessed by a global rating of change (GRC) scale. Responsiveness was assessed by testing hypotheses on expected correlation strength between change scores of the PROMs and the GRC scale, and by calculating the area under the receiver operating characteristics curve (AUC). The PROMs were considered responsive if ≥75% of the hypotheses were confirmed or if the AUC was ≥0.7.
Results
Twenty-nine children were recruited in three centers in the Netherlands and United States, of which 25 completed all baseline and follow-up measurements. For both the PedsQL and CDLQI, less than 75% of the hypotheses were confirmed and the AUC was <0.7.
Discussion
The results suggest that these PROMs are not sufficiently responsive for evaluating treatment effect in peripheral vascular malformations. Our study emphasizes the need for assessing responsiveness before using a PROM in evaluating treatment effect.
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