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Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia.
Authors:Maria Stella Aniello  Davide Martino  Gianluca Masi  Paolo Livrea  Giovanni Defazio
Affiliation:Department of Neurological and Psychiatric Sciences, University of Bari, Italy.
Abstract:We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure.
Keywords:adult dystonia  questionnaire  family history  epidemiology  diagnosis
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