Predictive testing for two neurodegenerative disorders (FAP and HD): A psychological point of view

Lêdo Susana, Paneque Milena, Rocha José, Leite Ângela, Sequeiros Jorge

Centre for Predictive and Preventive Genetics (CGPP), Institute for Mo-lecular and Cell Biology (IBMC), Porto, Portugal ICBAS, Universidade do Porto, Porto, Portugal.
Centre for Predictive and Preventive Genetics (CGPP), Institute for Mo-lecular and Cell Biology (IBMC), Porto, Portugal ICBAS, Universidade do Porto, Porto, Portugal UnIPSa, Centro de Investiga??o em Ciências da Saúde (CICS), Instituto Superior de Ciências da Saúde, CESPU, Paredes, Portugal.
Centre for Predictive and Preventive Genetics (CGPP), Institute for Mo-lecular and Cell Biology (IBMC), Porto, Portugal Instituto Superior de Ciências Empresariais e do Turismo (ISCET), Porto, Portugal Universidade Lusófona do Porto (ULP), Porto, Portugal.
UnIPSa, Centro de Investiga??o em Ciências da Saúde (CICS), Instituto Superior de Ciências da Saúde, CESPU, Paredes, Portugal.

DOI: 10.4236/ojgen.2013.34030                

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.

Keywords

Psychopathologic Indexes; Subscales; BSI; Psychological Impact; FAP; HD

Conflicts of Interest

The authors declare no conflicts of interest.

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