ABSTRACT
OBJECTIVE: In this paper, we present a descriptive study of the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington disease. SUBJECTS AND METHODS: Medical records were retrospectively reviewed from 100 individuals who requested presymptomatic diagnosis. They had been seen between February 2001 and May 2002 at the Ataxia Clinic in the province of Holguín and had completed the protocol. The participants had psychological evaluations before testing and 1 week after being informed of the result. RESULTS: The average age of the participants in the presymptomatic testing for SCA2 was 39.3 years, 62% were female. The main reasons for taking the test were family planning and risk assessment in their children. Family participation in the process was high and there were several additional sources of social support. Before the test, the subjects did not present high levels of anxiety or depression. On informing the patients of the test results indicators for anxiety and depression significantly decreased, and there were no significant differences according to whether the test result had been positive or negative. Catastrophic events were rare during the first week after the test. CONCLUSIONS: The results indicate a strong interest in presymptomatic diagnosis among individuals at risk for SCA2 in Holguín and a lack of significant psychological drawbacks up to 1 week after information of results.
Subject(s)
Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/genetics , Adaptation, Psychological , Adult , Disease Progression , Emotions , Female , Genetic Counseling , Humans , Informed Consent , Interviews as Topic , Male , Medical Records , Middle Aged , Motivation , Patient Care Team , Pilot Projects , Psychological Tests , Socioeconomic Factors , Spinocerebellar Ataxias/psychology , Trinucleotide RepeatsABSTRACT
In this paper, we present a descriptive study of significant psychological drawbacks up to 1 week after infor-the first year of implementation of the predictive genetic mation of results. Copyright © 2007 S. Karger AG, Baseltesting program for spinocerebellar ataxia type 2 (SCA2) inCuba, which has been structured along the internationalguidelines for Huntington disease. Subjects and Methods:Medical records were retrospectively reviewed from 100 in-dividuals who requested presymptomatic diagnosis. Theyhad been seen between February 2001 and May 2002 at theAtaxia Clinic in the province of Holguín and had completedthe protocol. The participants had psychological evaluationsbefore testing and 1 week after being informed of the result.Results: The average age of the participants in the presymp-tomatic testing for SCA2 was 39.3 years, 62% were female.The main reasons for taking the test were family planningand risk assessment in their children. Family participation inthe process was high and there were several additionalsources of social support. Before the test, the subjects didnot present high levels of anxiety or depression. On inform-ing the patients of the test results indicators for anxiety and...(AU)
