Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.
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.
Paneque
Milena
M
Clínica para Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), Holguín, Cuba. panequita@yahoo.es
Lemos
Carolina
C
Escalona
Karell
K
Prieto
Lizandra
L
Reynaldo
Rubén
R
Velázquez
Mercedes
M
Quevedo
Judith
J
Santos
Nieves
N
Almaguer
Luis Enrique
LE
Velázquez
Luis
L
Sousa
Alda
A
Fleming
Manuela
M
Sequeiros
Jorge
J
D000223:Adaptation, Psychological; D000328:Adult; D001007:Anxiety / Q000175:diagnosis / Q000523:psychology; D000067528:Ataxins; D003462:Cuba; D003863:Depression / Q000175:diagnosis / Q000523:psychology; D005193:Family Planning Services; D005195:Family Relations; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000523:psychology*; D020022:Genetic Predisposition to Disease / Q000235:genetics / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D007406:Interview, Psychological; D008297:Male; D008875:Middle Aged; D009042:Motivation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011446:Prospective Studies; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000523:psychology*
D000067528:Ataxins; D009419:Nerve Tissue Proteins