Long-term outcome of presymptomatic testing in Huntington disease

M Gargiulo, S Lejeune, ML Tanguy… - European Journal of …, 2009 - nature.com
M Gargiulo, S Lejeune, ML Tanguy, K Lahlou-Laforêt, A Faudet, D Cohen, J Feingold, A Durr
European Journal of Human Genetics, 2009nature.com
Our study on long-term outcome of presymptomatic testing for Huntington disease had two
aims: the comparison of the psychological well-being and social adjustment of carriers and
non-carriers of the mutation, and the identification of psychological determinants to improve
care/support of testees. We performed a cross-sectional study of 351 persons who
underwent presymptomatic testing. Those who had motor signs were excluded from the
comparison of asymptomatic carrier and non-carriers. A structured interview including five …
Abstract
Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the identification of psychological determinants to improve care/support of testees. We performed a cross-sectional study of 351 persons who underwent presymptomatic testing. Those who had motor signs were excluded from the comparison of asymptomatic carrier and non-carriers. A structured interview including five self-report scales and the MINI (Mini International Neuropsychiatric Inventory) was proposed to detect a psychopathology or problem with social adjustment.
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