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Am J Psychiatry 1992; 149:1674-1686
Copyright © 1992 by American Psychiatric Association
Reliability of best-estimate diagnosis in genetic linkage studies of major psychoses: results from the Quebec pedigree studies
M Maziade, MA Roy, JP Fournier, D Cliche, C Merette, C Caron, Y Garneau, N Montgrain, C Shriqui and C Dion
Centre de recherche Universite Laval Robert-Giffard, Beauport, PQ, Canada.
OBJECTIVE: Diagnostic classification and reliability are critical in
genetic linkage studies of schizophrenia and bipolar disorder. To establish
an optimal diagnostic procedure, the authors drew 13 methodological
elements from 38 major linkage studies and workshop reports. They
determined reliability for a consensus best-estimate diagnostic method
based on these 13 features. METHOD: Each of 59 subjects from several large
multiplex pedigrees, densely affected by either schizophrenia or bipolar
disorder, received a best-estimate diagnosis from unblind diagnosticians in
the field and also from a panel of four research psychiatrists who were
blind to the proband's and relatives' clinical status. The best estimate
was based on personal diagnostic interviews, all available medical records,
and family history data. RESULTS: The diagnostic concordance between the
field team and the blind psychiatric board yielded 78% to 90% agreement for
the whole sample (kappa = 0.83-0.88) and 71% to 87% agreement for the
subjects given field diagnoses (kappa = 0.76-0.83). The diagnoses made by
the unblind field diagnosticians were biased toward a greater severity (or
certainty) level in the diagnostic hierarchy (schizophrenic or bipolar) and
more consistency with the most prevalent diagnosis affecting the pedigree.
CONCLUSION: Since several previous linkage studies used diagnoses made by
diagnosticians who were not blind to the status of the probands and the
relatives or did not use a consensus best-estimate diagnosis, further
reliability studies of different aspects of the best-estimate method and of
its effect on linkage studies are needed. Such research is imperative given
the serious impact of diagnostic misclassifications on genetic linkage
results.
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