title: Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.
abstract: 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.
authors.affiliation: Clínica para Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), Holguín, Cuba. panequita@yahoo.es
authors.forename: Milena
authors.initials: M
authors.lastname: Paneque
authors.forename: Carolina
authors.initials: C
authors.lastname: Lemos
authors.forename: Karell
authors.initials: K
authors.lastname: Escalona
authors.forename: Lizandra
authors.initials: L
authors.lastname: Prieto
authors.forename: Rubén
authors.initials: R
authors.lastname: Reynaldo
authors.forename: Mercedes
authors.initials: M
authors.lastname: Velázquez
authors.forename: Judith
authors.initials: J
authors.lastname: Quevedo
authors.forename: Nieves
authors.initials: N
authors.lastname: Santos
authors.forename: Luis Enrique
authors.initials: LE
authors.lastname: Almaguer
authors.forename: Luis
authors.initials: L
authors.lastname: Velázquez
authors.forename: Alda
authors.initials: A
authors.lastname: Sousa
authors.forename: Manuela
authors.initials: M
authors.lastname: Fleming
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
mesh_terms: 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*
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins