Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
van der Stouwe Madelein, Vermeulen Olof, Eggink Wieke, Henriksen Tove, McGovern Eavan, Smit Marenka, Aybek Selma, Boon Agnita, Brandsma Rick, Deik Andres, Erro Roberto, Espay Alberto, Falup-Pecurariu Cristian, Frucht Stephen, Ganos Christos, Gatto Emilia, Helmich Rick, Klein Christine, Koelman Hans, Odekerken Vincent, Koens Lisette, Mahajan Abhimanyu, Morgante Francesca, Münchau Alexander, Panyakaew Pattamon, Peall Kathryn, Pérez-Dueñas Bélen, Roze Emanuel, Sadnicka Anna, Schneider Susanne, Schwingenschuh Petra, Serranova Tereza, Skorvanek Matej, Stamelou Maria, Tamas Gertrúd, Tinazzi Michele, Valadas Anna, Vandenberghe Wim, de Vries Jeroen, Zutt Rodi, van der Veen Sterre, Luiken Rogier, Tuitert Inge, Tijssen Marina
Аннотация
OBJECTIVES: To quantify interrater agreement in clinical phenotyping of hyperkinetic movement disorders among experts in a large, phenotypically diverse cohort.
METHODS: Within the NEMO project, 161 patients with hyperkinetic movement disorders underwent standardized video assessments. Each patient was independently classified by three international movement disorders experts in a structured, stepwise procedure. Experts first assessed videos alone, then received clinical history and examination, and finally diagnostic test results. At each step, they assigned primary and secondary phenotypes and rated their diagnostic confidence. Interrater agreement was assessed using Fleiss' and Cohen's kappa.
RESULTS: Across all phenotypes, interrater agreement on the primary phenotype increased with added information (κ = 0.457 to κ = 0.607). Agreement with the NEMO reference classification similarly improved (κ = 0.478 to κ = 0.656). Among patients with a single dominant phenotype, agreement reached κ = 0.78. In 93% of cases, at least two out of three experts reached consensus. Agreement was substantially lower in patients with mixed or complex presentations, such as myoclonus-dystonia and functional movement disorders. Diagnostic certainty rose throughout, though secondary phenotype agreement remained poor. Experts rarely revised initial impressions, suggesting robust pattern recognition but also potential confirmation bias.
CONCLUSIONS: Movement disorders specialists can reliably identify hyperkinetic phenotypes, even without in-person assessment. While complex, mixed and functional presentations remain diagnostically challenging, our findings reinforce the value of expert phenotyping in clinical care, training, and research, and provide a benchmark for future studies and computational approaches.