Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.
Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.
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DOI：
10.1186/s13023-022-02325-6
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发表时间：
2022-04-23
影响因子：
3.7
通讯作者：
Biesecker, Leslie G.
中科院分区：
文献类型：
--
作者：
Ours, Christopher A.;Hodges, Mia B.;Oden, Neal;Sapp, Julie C.;Biesecker, Leslie G.
Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome present challenges to measuring clinical outcomes. To address these, we designed a global clinical assessment for Proteus syndrome, a rare mosaic overgrowth disorder. The Clinical Gestalt Assessment (CGA) aims to evaluate change over time in this phenotypically diverse disorder. We gathered paired serial photographs and radiographs obtained at 12-to-36-month intervals from our natural history study of Proteus syndrome. The chronologic order of each set was blinded and presented to clinicians familiar with overgrowth disorders. They were asked to determine the chronologic order and, based on that response, rate global clinical change using a seven-point scale (Much Worse, Worse, Minimally Worse, No Change, Minimally Improved, Improved, Much Improved). Following a pilot, we tested the inter-rater reliability of the CGA using eight cases rated by eight clinicians. Raters identified the correct chronologic order in 53 of 64 (83%) of responses. There was low inter-rater variance and poor to moderate reliability with an intraclass correlation coefficient of 0.46 (95% CI 0.24–0.75). The overall estimate of global change was Minimally Worse over time, which is an accurate reflection of the natural history of Proteus syndrome. The CGA is a tool to evaluate clinical change over time in Proteus syndrome and may be a useful adjunct to measure clinical outcomes in prospective therapeutic trials. The online version contains supplementary material available at 10.1186/s13023-022-02325-6.
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影响因子：
4.9
作者：
Kolevzon A;Ventola P;Keary CJ;Heimer G;Neul JL;Adera M;Jaeger J
通讯作者：
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DOI：
10.1097/dbp.0b013e318287cd17
发表时间：
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Biesecker, Leslie G.
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影响因子：
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作者：
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