BACKGROUND: To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia. OBJECTIVE: To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives. PARTICIPANTS: Seventy probands with primary adult-onset dystonia were asked to identify first-degree relatives who had dystonia. Available relatives were then directly examined by a trained neurologist. The validity of the probands' reports was tested against the neurologists' diagnoses. RESULTS: Among 300 first-degree relatives who were examined, 26 received a diagnosis of dystonia. Only 7 of the 26 were identified by the probands' reports. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. The probands' reports therefore yielded a sensitivity of 27.0% and a specificity of 98.2%. CONCLUSIONS: Because the family history method yields low sensitivity and incurs a risk of misclassification, it is of limited use in family studies of adult-onset dystonia. The only valid means of ascertaining dystonia among relatives remains neurological examination of at-risk subjects.
BACKGROUND: To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia. OBJECTIVE: To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives. PARTICIPANTS: Seventy probands with primary adult-onset dystonia were asked to identify first-degree relatives who had dystonia. Available relatives were then directly examined by a trained neurologist. The validity of the probands' reports was tested against the neurologists' diagnoses. RESULTS: Among 300 first-degree relatives who were examined, 26 received a diagnosis of dystonia. Only 7 of the 26 were identified by the probands' reports. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. The probands' reports therefore yielded a sensitivity of 27.0% and a specificity of 98.2%. CONCLUSIONS: Because the family history method yields low sensitivity and incurs a risk of misclassification, it is of limited use in family studies of adult-onset dystonia. The only valid means of ascertaining dystonia among relatives remains neurological examination of at-risk subjects.
Authors: Peter Hedera; Fenna T Phibbs; John Y Fang; Michael K Cooper; P David Charles; Thomas L Davis Journal: BMC Neurol Date: 2010-07-29 Impact factor: 2.474
Authors: G Defazio; D Martino; M S Aniello; G Masi; G Abbruzzese; S Lamberti; E M Valente; F Brancati; P Livrea; A Berardelli Journal: J Neurol Neurosurg Psychiatry Date: 2006-02 Impact factor: 10.154
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Authors: I Rubio-Agusti; I Pareés; M Kojovic; M Stamelou; T A Saifee; G Charlesworth; U M Sheerin; M J Edwards; K P Bhatia Journal: Parkinsonism Relat Disord Date: 2013-03-21 Impact factor: 4.891