Disease Knowledge and Attitudes toward Predictive Testing and Prenatal Diagnosis in Families with Machado-Joseph Disease from the Azores Islands (Portugal)

Lima, Manuela; Kay, Teresa; Vasconcelos, João; Mota-Vieira, Luísa; González, Carlos; Peixoto, Alisse Maria Chaves de Lima; Abade, Augusto; MacLeod, Patrick; Graça, Rafael; Santos, Jorge

doi:10.1159/000051154

Cited by 14 publications

(13 citation statements)

References 14 publications

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“…A longterm follow-up is offered to all testees, as part of the test procedure. In the Azores, the PT and GC program has been conducted since 1996 by a local multidisciplinary team (Lima et al, 2001;Gonzalez et al, 2004). A component of this program has the main purpose of evaluating, in molecularly confirmed carriers of the MJD mutation, the psychological well-being, the individual and familial representations of the disease, as well as the family dynamics.…”

Section: Introductionmentioning

confidence: 99%

Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation

González

Gomes²,

Kazachkova³

et al. 2012

Genetic Testing and Molecular Biomarkers

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The present study on long-term outcome of presymptomatic testing for Machado-Joseph disease (MJD) aimed to evaluate the psychological well-being and the familial satisfaction of subjects that 5 years prior received an unfavorable result in the predictive testing (PT). The study included 47 testees of Azorean origin (23 from the island of Flores and 24 from S. Miguel) that completed the fourth evaluation session of the MJD protocol, and undertook a neurological examination at the moment of participation in the study. Nearly 50% of testees were symptomatic at the time of the study. Psychological well-being of the 47 participants was evaluated using the Psychological General Well-Being Index (PGWB). The family satisfaction scale by adjectives was applied to obtain information on family dynamics. The average PGWB score of the total participants was of 73.3, a value indicative of psychological well-being. Nearly half of the testees presented scores indicating psychological wellbeing, whereas scores indicating moderate (28.9%) or severe (23.7%) stress were found in the remaining. The average score in the PGWB scale was lower in symptomatic than in asymptomatic subjects; moreover, the distinct distribution of the well-being categories seen in the two groups shows an impact of the appearance of first symptoms on the psychological state. Motives for undertaking the test, provided 5 years prior, failed to show an impact in well-being. The average score for familial satisfaction was of 134, a value compatible with high familial satisfaction, which represented the most frequent category (59.6%). Results demonstrate that wellbeing and family satisfaction need to be monitored in confirmed carriers of the MJD mutation. The inclusion of acceptance studies, after PT, as well as the development of acceptance training actions, should be of major importance to anticipate the possibility of psychological damage.

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Section: Introductionmentioning

confidence: 99%

Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation

González

Gomes²,

Kazachkova³

et al. 2012

Genetic Testing and Molecular Biomarkers

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show abstract

“…Although a worldwide epidemiological representation is presently described for this disorder, some Portuguese clusters are recognized and have received special attention, namely for issues related with genetic counseling (GC) and predictive testing (PT) [6]. Among such clusters are the Azores [7]. …”

Section: Introductionmentioning

confidence: 99%

“…A previous study on the Azorean MJD families conducted by our team which aimed to estimate the expected demand for PT revealed that 83.3% of the individuals at risk intended to perform the genetic test [7]. However, experience with similar disorders, namely Huntington’s disease (HD), has shown that actual behavior is very different from intentions [14].…”

Section: Introductionmentioning

confidence: 99%

Short-Term Psychological Impact of Predictive Testing for Machado-Joseph Disease: Depression and Anxiety Levels in Individuals at Risk from the Azores (Portugal)

González¹,

Lima

Kay

et al. 2004

Public Health Genomics

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Objective: The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program. Methods: Scores for depression and anxiety were used as indicators of the subjects’ emotional status immediately before the PT and 1 year after disclosure of the results. Results: Global levels of participation in the Azorean PT Program for MJD were high (20.7%), particularly in Flores Island (35.8%). For the total sample, mean scores of depression and anxiety before and after the PT presented without clinical significance. No differences were found for depression and anxiety scores before and after the PT. Furthermore, when grouped by test results (carriers/non-carriers), there were no differences between pre- and post-test levels. Conclusions: Results indicate that the test result did not cause a decrease in the psychological well-being of the individuals tested. The high number of participants performing the PT in the small and isolated community of Flores Island, where MJD represents a source of stigma, was interpreted as an indication that in this particular population the PT offers the individuals at risk the possibility of liberating from a stigma, and, hence, from exclusion.

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“…Acceptance of PND and termination of pregnancy in the presence of the mutation in the fetus was low for this population (Lima et al 2001;Rolim et al 2006).…”

Section: Prenatal Diagnosis For Sca2: What Have We Learned?mentioning

confidence: 83%

Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience

Mariño¹,

Velázquez‐Pérez

González-Zaldívar³

et al. 2013

J Community Genet

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Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic counseling, presymptomatic testing, and prenatal diagnosis of hereditary ataxias has been under development since 2001. Considering that the revision of the experience with prenatal diagnosis for SCA2 in Cuba would enable comparison of ours with international findings, we designed a descriptive study, based on the retrospective revision of the medical records belonging to the 58 couples that requested their inclusion in the program, during an 11-year period (2001)(2002)(2003)(2004)(2005)(2006)(2007)(2008)(2009)(2010)(2011). Most of the participants in the prenatal diagnosis program were known presymptomatic carriers, diagnosed through the presymptomatic testing in the same period of study, for an uptake among them of 22.87 % (51 out of 223). In 28 cases, the fetuses were carriers, 20 of these couples (71.43 %) decided to terminate the pregnancy; the rest continued the pregnancy to term, this resulting in a predictive test for their unborn children. A predominance of females as the at-risk progenitor was observed. Except for a slightly lower average age, the results attained in the Cuban SCA2 prenatal diagnosis program resulted similar to the ones reported for Huntington disease in other countries. It is necessary to have easy access to the Cuban program through its expansion to other genetic centers along the island. Future research is needed to evaluate the long-term impact of both the predictive testing in unborn children and the selection of other reproductive options by the at-risk couples.

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Disease Knowledge and Attitudes toward Predictive Testing and Prenatal Diagnosis in Families with Machado-Joseph Disease from the Azores Islands (Portugal)

Cited by 14 publications

References 14 publications

Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation

Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation

Short-Term Psychological Impact of Predictive Testing for Machado-Joseph Disease: Depression and Anxiety Levels in Individuals at Risk from the Azores (Portugal)

Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience

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