RESUMO
Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive testing of this condition. Between February 2001 and December 2011, a total of 1050 individuals requested their inclusion in the presymptomatic testing (PST) program. Their medical records were retrospectively analyzed in the present descriptive study. A total of 768 participants completed the protocol, 204 withdrew and 78 were excluded. The PST uptake was 24.91%. Females predominated and 70.96% had negative test results. Their main motivations were risk assessment in their descendants, physical and psychological preparation to cope with the disease and planning for the future. The profile of Cuban participants in the predictive testing program is similar to the one reported for other programs all over the world, nevertheless the genetic counseling practice at the community level is a distinctive aspect, which is valuable in providing at-risk individuals with wide and proper knowledge before their testing inclusion request. The SCA2 predictive testing program has high uptake rates and is renowned in our population. Future research is needed to assess the long-term psychological impact in the participants, their partners and relatives.
Assuntos
Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Adaptação Psicológica , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cuba/epidemiologia , Saúde da Família , Feminino , Aconselhamento Genético/psicologia , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença/psicologia , Testes Genéticos/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Medição de Risco , Ataxias Espinocerebelares/epidemiologia , Revelação da Verdade , Adulto JovemRESUMO
INTRODUCTION: Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the most prevalent molecular type. Over the last years a great amount of progress has been made in clinical, epidemiological, molecular and neurophysiological research. Yet, the main psychiatric disorders that appear in these patients remain unknown. Their proper diagnosis will help to draw up a program of individualized therapeutic interventions for each disorder and will allow the patient to cope better with his or her illness and to take part in an effective physical and psychological rehabilitation program. AIMS. To identify the mental disorders that appear in patients suffering from SCA2. PATIENTS AND METHODS: We conducted a descriptive study of series of cases in 150 patients with SCA2. Data was obtained by means of a semi structured interview with patients and their relatives, as well as a thorough psychiatric exploration, which enabled us to sort the symptoms according to spheres. A battery of psychometric tests and the diagnostic and research criteria for the international classification of mental illnesses were also used. RESULTS: Findings showed that 88% of those studied present at least one clinical manifestation related with mental disorders. These included, essentially, disorders involving adaptation, sleep, mood and sexual disorders. Mental retardation and dementia were other alterations that were diagnosed. CONCLUSIONS: Disorders in the psychic sphere are a part of the SCA2 phenotype