RESUMO
Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five yearsago. We have now investigated the psychological impact of test results on 150 individuals at5O percent risk for SCA2. In a prospective study, psychological instruments were used to evaluatedepression, anxiety and family functioning (1) before testing and (2) one year after disclosureof the test result. One year after, anxiety and depression levels decreased both in carriersand non-carriers, but anxiety decreased significantly more in carriers. Pathological levelsof anxiety were seen mostly in members of dysfunctional families, but decreased more inthem than in other consultands. Presymptomatic testing thus seems to have been especiallybeneficial for these testees, possibly due to a greater gain from the psychosocial supportreceived. It would be pertinent to evaluate now the impact of other psychosocial variablesand perform longer-term longitudinal studies...(AU)
Assuntos
Humanos , Ataxias Espinocerebelares , DepressãoRESUMO
Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies.
Assuntos
Adaptação Psicológica , Aconselhamento Genético/psicologia , Testes Genéticos/psicologia , Proteínas do Tecido Nervoso/genética , Ataxias Espinocerebelares/psicologia , Adulto , Ansiedade/diagnóstico , Ansiedade/psicologia , Ataxinas , Cuba , Depressão/diagnóstico , Depressão/psicologia , Serviços de Planejamento Familiar , Relações Familiares , Feminino , Seguimentos , Triagem de Portadores Genéticos , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Humanos , Entrevista Psicológica , Masculino , Pessoa de Meia-Idade , Motivação , Estudos Prospectivos , Ataxias Espinocerebelares/genéticaRESUMO
We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, ataxia score, age, and sex. Little overlap with normal values was found even at earliest stages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutamine size and less by disease duration, whereas the reverse was found for ataxia score. Saccade velocity thus is a sensitive, quite specific, and objective endophenotype, useful to search polyglutamine modifier genes.
Assuntos
Peptídeos/fisiologia , Movimentos Sacádicos/fisiologia , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Peptídeos/genética , Movimentos Sacádicos/genética , Ataxias Espinocerebelares/genéticaRESUMO
We assessed maximal saccade velocity (MSV) in 82 spinocerebellarataxia type 2 (SCA2) patients and 80 controls,correlating it to disease duration, polyglutamine expansionsize, age at onset, ataxia score, age, and sex. Littleoverlap with normal values was found even at earlieststages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutaminesize and less by disease duration, whereas the reverse wasfound for ataxia score. Saccade velocity thus is a sensitive,quite specific, and objective endophenotype, useful tosearch polyglutamine modifier genes...(AU)