TITLE:
Predictive testing for two neurodegenerative disorders (FAP and HD): A psychological point of view
AUTHORS:
Lêdo Susana, Paneque Milena, Rocha José, Leite Ângela, Sequeiros Jorge
KEYWORDS:
Psychopathologic Indexes; Subscales; BSI; Psychological Impact; FAP; HD
JOURNAL NAME:
Open Journal of Genetics,
Vol.3 No.4,
December
12,
2013
ABSTRACT: In this retrospective study, we have researched the
psychological impact of pre-symptomatic
testing (PST) for 2 autosomal dominant late-onset diseases: Huntington
disease (HD and familial amyloidotic polyneuropathy (FAP) V30M TTR. The study
included 53 subjects: 40 (75.5%) were the offspring at risk for FAP and 13
(24.5%) for HD. Of these, 38 (73.1%) received the carrier result and 12 (23.1%)
the noncarrier result; 3 of them did not want to know the result. The indicators
taken for emotional distress were the subscales and global indexes of psychopathological
Behavior Symptoms Inventory (BSI), applied in the pre-test and post-test,
one-year after notification of results. Values decreased significantly one year
after the implementation of the PST, regardless of the studied disease or
test result; this seems to corroborate previous studies showing that testing
does not increase pre-symptomatic levels of emotional disturbance in
individuals. However, the subjects studied showed, for all subscales and global
indexes of the BSI, significantly higher values than those of control groups.