Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).
OBJECTIVE
Machado-Joseph disease (MJD) reaches its highest prevalence world-wide in the Azores, thus constituting a public health problem in these islands. The aim of the study was thus to (1) determine the level of knowledge about the disease; (2) estimate the expected level of request for predictive testing, and (3) analyse the intentions of at-risk individuals concerning their reproductive decisions.


METHODS
A questionnaire on these points was distributed to 42 affected and 36 at-risk individuals.


RESULTS
As expected, the educational level of the respondents was significantly associated with the level of knowledge about the disease. The survey indicated that 83.3% of the at-risk individuals would make use of predictive test and that 77.8% would make use of prenatal diagnosis. Of the latter, 36.1% would terminate pregnancy if confronted with a positive result for the fetus.


CONCLUSIONS
The level of knowledge about MJD in the Azorean families is considered to be fair. Although the actual behavior can prove to be different from the intentions put forward by at-risk individuals based solely on the results of this study we can estimate that the request for a predictive test would be quite high. The intentions expressed by at-risk individuals seem to indicate that the prenatal diagnosis will have an effect on their reproductive decisions. Results obtained certify the importance of implementing genetic testing for MJD in the Azores.
Lima
M
M
Department of Biology, University of the Azores/R.Mae de Deus, 58/9500 Ponta Delgada, Sao Miguel, Azores, Portugal. mlima@notes.uac.pt
Kay
T
T
Vasconcelos
J
J
Mota-Vieira
L
L
Gonzalez
C
C
Peixoto
A
A
Abade
A
A
MacLeod
P
P
Graca
R
R
Santos
J
J
D001294:Attitude to Health; D001394:Azores; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn; D005820:Genetic Testing / Q000523:psychology*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D033182:Intention; D017827:Machado-Joseph Disease / Q000235:genetics* / Q000523:psychology*; D008297:Male; D011174:Portugal; D011296:Prenatal Diagnosis / Q000523:psychology*; D012098:Reproduction; D011795:Surveys and Questionnaires