title: Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia.
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.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Bari, Italy.
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Aniello
authors.forename: Davide
authors.initials: D
authors.lastname: Martino
authors.forename: Gianluca
authors.initials: G
authors.lastname: Masi
authors.forename: Paolo
authors.initials: P
authors.lastname: Livrea
authors.forename: Giovanni
authors.initials: G
authors.lastname: Defazio
mesh_terms: D000368:Aged; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D006306:Health Surveys; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D011569:Psychiatric Status Rating Scales; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D011795:Surveys and Questionnaires