O perfil psicossocial do usuario do teste preditivo para a doença de Huntington e as ataxias espinocerebelares / The psychological profile of predictive test users for Huntington s disease and spinocerebellar ataxias

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

Recent advances in molecular genetics have made it possible to detect specific genetic alterations that are responsible for several diseases, even before the individual presents any symptoms. Hence, genetic tests such as the diagnostic test (DT) to confirm diagnosis and the predictive test (PT) or presymptomatic test can be performed. This study deals with the PT aspects of two neurodegenerative diseases: Huntington?s disease (HD) and spinocerebellar ataxias (SCA). Both are degenerative, progressive, generally familial diseases with onset of symptoms between the first and fifth decade of life, progressing slowly to death after 15 to 20 years. Our main objectives were: a) determine the psychological profile of PT users; b) study the reasons that lead individuals to undergo predictive testing; c) psychological assessment of these individuals to check if they are prepared to undergo molecular testing. Thirty-eight individuals having a family member affected by HD or SCA came to this service for testing. Their ages ranged from 17 to 53 years, their educational levels were middle school, high school and university, 58% (22) were females. More than half of the individuals (n=23) interested in undergoing the PT presented a risk for Huntington?s disease and 40% (n=15) for ataxia. Sixty percent (n=10) of the individuals with a risk for ataxia had molecular testing confirmation for Machado- Joseph Disease. Only 34% (n=13) of the 38 individuals concluded the PT protocol, while 50% (n=19) did not. Sixteen percent (n=06) of the individuals who requested a consultation were only interested in information about risk of transmission and the test procedure. The test users presented a 38% risk for Huntington?s disease and 62% (n=8) risk for ataxia. Fifty percent of the ataxia test users presented a risk for type 3 or Machado-Joseph disease. In the case of 38% (n=5) of the users, their main purpose in performing the PT test was family planning. However, one individual already had a child, but wanted to plan a second child if he was not a carrier of the mutation responsible for the disease in his family. The test results were important for 32% (n=4) of these individuals because they cleared doubts about being mutation carriers, which meant they could plan the future without worrying about developing a neurodegenerative disease. In the case of 23% (n=3) PT users, the main reason was to discard any risk in relation to their offspring and in the case of 7% (n=1), their professional planning could be done based on the results. Hence, we can conclude that an organized protocol offering genetic counseling and pre-test services is needed so that individuals who would like to undergo the PT are able to evaluate the consequences of this test and their reasons for performing the test

ASSUNTO(S)

doenças degenerativas neurodegenerative diseases

ACESSO AO ARTIGO

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