RESUMO
The identification of the molecular basis of numerous hereditary neurological disorders allowed the feasibility of predictive genetic tests for at-risk family members. In agreement with international guidelines, we tested a protocol for a predictive test to optimize cooperation among specialists, well-being of participants, and organization of clinical activities. The psychiatrist/psychologist did not meet the at-risk subjects, but cooperated with the team, integrating psychological support for participants and clinicians. We enrolled 60 subjects at risk for Huntington disease, and 32 at risk for spinocerebellar ataxias. Seventy-two subjects (78%) continued the visit program; 55 (60%) received the genetic result, and 38 subjects (41%) completed the program. Participation and outcome were similar in both groups. Mean psychological scores were all below significant levels; however, the need for psychological support was recognized for 5 mutation carriers and a non-carrier. Our data provide a methodological example of a simple and safe procedure for a predictive test, and indicate that the clinical conference represents a good setting to handle psychosocial impact associated with disclosure of genetic results in hereditary late-onset disorders.
Assuntos
Aconselhamento/métodos , Aconselhamento Genético/psicologia , Testes Genéticos , Doença de Huntington/genética , Fosfoproteínas Fosfatases/genética , Ataxias Espinocerebelares/genética , Adulto , Distribuição de Qui-Quadrado , Avaliação da Deficiência , Feminino , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/psicologia , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Fosfoproteínas Fosfatases/classificação , Valor Preditivo dos Testes , Escalas de Graduação Psiquiátrica , Risco , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/psicologia , Inquéritos e Questionários , Adulto JovemRESUMO
We examined cognitive and psychiatric disturbances in patients with Huntington's disease (HD) in comparison to at-risk asymptomatic subjects. Cognitive and psychiatric scales and an HD motor scale were administered to 40 HD patients, 17 pre-symptomatic HD gene carriers (AR+) and 28 non gene carriers (AR-). HD patients did worse than AR+ and AR- in all motor, cognitive and psychiatric measures, while AR+ and AR-subjects did not differ between each other. HD patients had high scores for negative psychiatric symptoms, but there was no correlation between illness duration and psychiatric or cognitive performance. In HD, disease course and symptomatology are heterogeneous and negative psychiatric symptoms are common.