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Published in: Journal of Genetic Counseling 5/2009

01-10-2009 | Original Research

Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent

Authors: Milena Paneque, Carolina Lemos, Alda Sousa, Luis Velázquez, Manuela Fleming, Jorge Sequeiros

Published in: Journal of Genetic Counseling | Issue 5/2009

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Abstract

To identify possible factors affecting the psychological impact of pre-symptomatic testing for spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP ATTRV30M), we studied (1) the effect of previous experience with the disease in the family, (2) kinship with the closest affected relative and (3) gender of affected parent, when adapting to test results; as well as (4) differences in the course of psychological wellbeing in 63 subjects ( 28 at-risk for FAP ATTRV30M, and 35 at risk for SCA2), who pursued predictive testing for these diseases, in Cuba and in Portugal. Our research shows that individuals with little or no experience with the disease in their family exhibited more anxiety; at-risk subjects for SCA2 or FAP ATTRV30M who had a first degree relative with the disease showed lower levels of anxiety and depression during pre-symptomatic testing. Also those with an affected mother had lower levels of depression, either immediately, or one year after receipt of test results. Adaptation to pre-symptomatic testing results differed for subjects at-risk for the two different conditions. Unlike the FAP ATTRV30M families, carriers for SCA2 reported pathological levels of depression immediately after-testing (3 weeks), although those levels had returned to normal levels at 6 months. Subjects at-risk for FAP ATTRV30M tended to have less anxiety than those tested for SCA2, at the one-year follow-up. Overall, depression levels improved over time, while anxiety remained more constant. A longer awareness of the disease in the family, closer kinship, and a transmitting mother all lessened the impact of pre-symptomatic testing, as expressed by the post-test levels of anxiety and depression.
Literature
go back to reference Almqvist, E. W., Brinkman, R. R., Wiggins, S., & Hayden, M. R. (2003). Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clinical Genetics, 64(4), 300–309.PubMedCrossRef Almqvist, E. W., Brinkman, R. R., Wiggins, S., & Hayden, M. R. (2003). Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clinical Genetics, 64(4), 300–309.PubMedCrossRef
go back to reference Beck, A. T., & Steer, R. A. (1984). Internal consistency of the original and revised Beck Depression Inventory. Journal of Clinical Psychology, 40, 1365–1367.PubMedCrossRef Beck, A. T., & Steer, R. A. (1984). Internal consistency of the original and revised Beck Depression Inventory. Journal of Clinical Psychology, 40, 1365–1367.PubMedCrossRef
go back to reference Conceição, I. (2006). Clínica e historia natural da Polineuropatia Amiloidótica Familiar. Sinapse, 6(1), 86–91. Conceição, I. (2006). Clínica e historia natural da Polineuropatia Amiloidótica Familiar. Sinapse, 6(1), 86–91.
go back to reference Conde, V., & Franch, J. I. (1984). Escalas de evaluación conductual para la clasificación de sintomatología psicopatológica en los trastornos ansiosos y depresivos. Valladolid: Departamento de Psicología Médica de la Universidad de Valladolid, Departamento de Psicología Médica de la Universidad de Valladolid. Conde, V., & Franch, J. I. (1984). Escalas de evaluación conductual para la clasificación de sintomatología psicopatológica en los trastornos ansiosos y depresivos. Valladolid: Departamento de Psicología Médica de la Universidad de Valladolid, Departamento de Psicología Médica de la Universidad de Valladolid.
go back to reference Coutinho, P., da Martins Silva, A., & Lopes Lima, J. A. (1979). Forty years of experience with type I amyloid neuropathy: Review of 483 cases. In G. G. Glenner, P. P. Costa & A. F. de Freitas (Eds.), Amyloid and Amyloidosis (pp. 88–98). Amsterdam: Excerpta Médica, 88-98. Coutinho, P., da Martins Silva, A., & Lopes Lima, J. A. (1979). Forty years of experience with type I amyloid neuropathy: Review of 483 cases. In G. G. Glenner, P. P. Costa & A. F. de Freitas (Eds.), Amyloid and Amyloidosis (pp. 88–98). Amsterdam: Excerpta Médica, 88-98.
go back to reference Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cassiman, J. J., Cloostermans, T., Demyttenaere, K., et al. (1999a). Psychological functioning before predictive testing for Huntington’s disease: the role of the parental disease, risk perception, and subjective proximity of the disease. Journal of Medical Genetics, 36(12), 897–905.PubMed Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cassiman, J. J., Cloostermans, T., Demyttenaere, K., et al. (1999a). Psychological functioning before predictive testing for Huntington’s disease: the role of the parental disease, risk perception, and subjective proximity of the disease. Journal of Medical Genetics, 36(12), 897–905.PubMed
go back to reference Decruyenaere, M., Evers-Kiebooms, G., Claes, E., Denayer, L., Welkenhuysen, M., Legius, E., et al. (1999b). Psychosocial aspects of familial breast and ovarian cancer: psychological guidelines for genetic testing. Disease Markers, 15(1–3), 152–3.PubMed Decruyenaere, M., Evers-Kiebooms, G., Claes, E., Denayer, L., Welkenhuysen, M., Legius, E., et al. (1999b). Psychosocial aspects of familial breast and ovarian cancer: psychological guidelines for genetic testing. Disease Markers, 15(1–3), 152–3.PubMed
go back to reference DudokdeWit, A. C., Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., & Passchier, J. (1998). Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. Journal of Medical Genetics, 35(9), 745–754.PubMedCrossRef DudokdeWit, A. C., Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., & Passchier, J. (1998). Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. Journal of Medical Genetics, 35(9), 745–754.PubMedCrossRef
go back to reference Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2007). “Holding your breath”: interviews with young people who have undergone predictive genetic testing for Huntington disease. American Journal of Medical Genetics, 143(17), 1984–1989. Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2007). “Holding your breath”: interviews with young people who have undergone predictive genetic testing for Huntington disease. American Journal of Medical Genetics, 143(17), 1984–1989.
go back to reference Goizet, C., Lesca, G., & Durr, A. (2002). Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias. Neurology, 59(9), 1330–1336.PubMed Goizet, C., Lesca, G., & Durr, A. (2002). Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias. Neurology, 59(9), 1330–1336.PubMed
go back to reference Herlenius, G., Wilczek, H. E., Larsson, M., & Ericzon, B. G. (2004). Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation, 77(1), 64–71.PubMedCrossRef Herlenius, G., Wilczek, H. E., Larsson, M., & Ericzon, B. G. (2004). Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation, 77(1), 64–71.PubMedCrossRef
go back to reference Holmgren, G., Steen, L., Ekstedt, J., Groth, C. G., Ericzon, B. G., Eriksson, S., et al. (1991). Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP ATTRV30M-met30). Clinical Genetics, 40(3), 242–246.PubMedCrossRef Holmgren, G., Steen, L., Ekstedt, J., Groth, C. G., Ericzon, B. G., Eriksson, S., et al. (1991). Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP ATTRV30M-met30). Clinical Genetics, 40(3), 242–246.PubMedCrossRef
go back to reference Kessler, S. (1993). Forgotten person in the Huntington disease family. American Journal of Medical Genetics, 48(3), 145–150.PubMedCrossRef Kessler, S. (1993). Forgotten person in the Huntington disease family. American Journal of Medical Genetics, 48(3), 145–150.PubMedCrossRef
go back to reference Kessler, S. (1994). Predictive testing for Huntington disease: a psychologist’s view. American Journal of Medical Genetics, 54(3), 161–166.PubMedCrossRef Kessler, S. (1994). Predictive testing for Huntington disease: a psychologist’s view. American Journal of Medical Genetics, 54(3), 161–166.PubMedCrossRef
go back to reference Kessler, R. C., Davis, C. G., & Kendler, K. S. (1997). Childhood adversity and adult psychiatric disorder in the US National Comorbidity Survey. Psychological Medicine, 27(5), 1101–1119.PubMedCrossRef Kessler, R. C., Davis, C. G., & Kendler, K. S. (1997). Childhood adversity and adult psychiatric disorder in the US National Comorbidity Survey. Psychological Medicine, 27(5), 1101–1119.PubMedCrossRef
go back to reference Larsson, M., Luszsz, M., Bui, T.-H., & Robins, T. (2006). Depression and suicidal ideation after predictive testing for Huntington’s disease: a two-year follow-up study. Journal of Genetic Counselling, 15(5), 361–374.CrossRef Larsson, M., Luszsz, M., Bui, T.-H., & Robins, T. (2006). Depression and suicidal ideation after predictive testing for Huntington’s disease: a two-year follow-up study. Journal of Genetic Counselling, 15(5), 361–374.CrossRef
go back to reference Olatunji, B. O., Deacon, B. J., Abramowitz, J. S., & Tolin, D. F. (2006). Dimensionality of somatic complaints: factor structure and psychometric properties of the Self-Rating Anxiety Scale. Journal of Anxiety Disorders, 20(5), 543–561.PubMedCrossRef Olatunji, B. O., Deacon, B. J., Abramowitz, J. S., & Tolin, D. F. (2006). Dimensionality of somatic complaints: factor structure and psychometric properties of the Self-Rating Anxiety Scale. Journal of Anxiety Disorders, 20(5), 543–561.PubMedCrossRef
go back to reference Orozco, G., Nodarse, F. A., Cordovés, R., & Aurburger, G. (1990). Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology, 40(90), 1369–1375. Orozco, G., Nodarse, F. A., Cordovés, R., & Aurburger, G. (1990). Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology, 40(90), 1369–1375.
go back to reference Paneque, H. M., Prieto, A. L., Reynaldo, R. R., Cruz, M. T., Santos, F. N., Almaguer, M. L., et al. (2007). Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba. Community Genetics, 10(3), 132–139.PubMedCrossRef Paneque, H. M., Prieto, A. L., Reynaldo, R. R., Cruz, M. T., Santos, F. N., Almaguer, M. L., et al. (2007). Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba. Community Genetics, 10(3), 132–139.PubMedCrossRef
go back to reference Ponciano, E., Vaz Serra, A., & Relvas, J. (1982). Aferição da escala de auto-avaliação de ansiedade, de Zung, numa amostra da população portuguesa–I. Resultados da aplicação numa população normal. Psiquiatria Clínica, 4(3), 191–202. Ponciano, E., Vaz Serra, A., & Relvas, J. (1982). Aferição da escala de auto-avaliação de ansiedade, de Zung, numa amostra da população portuguesa–I. Resultados da aplicação numa população normal. Psiquiatria Clínica, 4(3), 191–202.
go back to reference Pulst, S. M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X. N., Lopes-Cendes, I., et al. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genetics, 14(3), 269–276.PubMedCrossRef Pulst, S. M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X. N., Lopes-Cendes, I., et al. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genetics, 14(3), 269–276.PubMedCrossRef
go back to reference Rodgers, B. (1996). Reported parental behaviour and adult affective symptoms. 1. Associations and moderating factors. Psychological Medicine, 26(1), 51–61.PubMedCrossRef Rodgers, B. (1996). Reported parental behaviour and adult affective symptoms. 1. Associations and moderating factors. Psychological Medicine, 26(1), 51–61.PubMedCrossRef
go back to reference Rolim, L., Leite, A., Ledo, S., Paneque, M., Sequeiros, J., & Fleming, M. (2006). Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics, 69(4), 297–305.PubMedCrossRef Rolim, L., Leite, A., Ledo, S., Paneque, M., Sequeiros, J., & Fleming, M. (2006). Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics, 69(4), 297–305.PubMedCrossRef
go back to reference Sales-Luís, M. L., Conceição, I., & Carvalho, M. (2003). Clinical and Therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP ATTRV30M). Amyloid: The Journal of Protein Folding Disorders, 10(1), 26–31. Sales-Luís, M. L., Conceição, I., & Carvalho, M. (2003). Clinical and Therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP ATTRV30M). Amyloid: The Journal of Protein Folding Disorders, 10(1), 26–31.
go back to reference Sanz, J., & Vázquez, C. (1998). Fiabilidad, validez y datos normativos del inventario para la depresión de Beck. Psicothema, 10, 303–318. Sanz, J., & Vázquez, C. (1998). Fiabilidad, validez y datos normativos del inventario para la depresión de Beck. Psicothema, 10, 303–318.
go back to reference Sequeiros, J. (1996). O Teste Preditivo da Doença de Machado-Joseph. Porto: Unigene, IBMC. Sequeiros, J. (1996). O Teste Preditivo da Doença de Machado-Joseph. Porto: Unigene, IBMC.
go back to reference Serra, A., & Abreu, J. (1973). Aferição dos quadros clínicos depressivos. Ensaio de aplicação do Inventário Depressivo de Beck a uma amostra portuguesa de doentes deprimidos. Coimbra Médica, XX, 623–644. Serra, A., & Abreu, J. (1973). Aferição dos quadros clínicos depressivos. Ensaio de aplicação do Inventário Depressivo de Beck a uma amostra portuguesa de doentes deprimidos. Coimbra Médica, XX, 623–644.
go back to reference Silva, A. M., Sousa, A., Fonseca, I., & Coelho, T. (2004). Genetic epidemiology of familial amyloid polyneuropathy TTRMet30 in Portugal. European Journal of Neurology, 11(2), 32. Silva, A. M., Sousa, A., Fonseca, I., & Coelho, T. (2004). Genetic epidemiology of familial amyloid polyneuropathy TTRMet30 in Portugal. European Journal of Neurology, 11(2), 32.
go back to reference Sousa, A., Silva, A. M., Maia, L., & Coelho, T. (2008). Familial amyloid polyneuropathy (ATTRV30M): a change in paradigm? Europpean Journal of Human Genetics, 16(2), 365. Sousa, A., Silva, A. M., Maia, L., & Coelho, T. (2008). Familial amyloid polyneuropathy (ATTRV30M): a change in paradigm? Europpean Journal of Human Genetics, 16(2), 365.
go back to reference Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., Vegter-van der Vlis, M., Roos, R. A., & Verhage, F. (1994). Psychological effects of presymptomatic DNA testing for Huntington's disease in the Dutch program. Psychosomatic Medicine, 56, 526–532.PubMed Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., Vegter-van der Vlis, M., Roos, R. A., & Verhage, F. (1994). Psychological effects of presymptomatic DNA testing for Huntington's disease in the Dutch program. Psychosomatic Medicine, 56, 526–532.PubMed
go back to reference Tyler, A., Morris, M., Lazarou, L., Meredith, L., Myring, J., & Harper, P. (1992). Presymptomatic testing for Huntington’s disease in Wales 1987–1990. British Journal of Psychiatry, 161, 481–488.PubMedCrossRef Tyler, A., Morris, M., Lazarou, L., Meredith, L., Myring, J., & Harper, P. (1992). Presymptomatic testing for Huntington’s disease in Wales 1987–1990. British Journal of Psychiatry, 161, 481–488.PubMedCrossRef
go back to reference Velázquez, L. (2006). Ataxia Espinocerebelosa tipo 2. Principales aspectos neurofisiológicos en el diagnóstico, pronóstico y evolución de la enfermedad. Holguín: Ediciones Holguín. Velázquez, L. (2006). Ataxia Espinocerebelosa tipo 2. Principales aspectos neurofisiológicos en el diagnóstico, pronóstico y evolución de la enfermedad. Holguín: Ediciones Holguín.
go back to reference Velázquez, L., Garcia, R., Santos, F. N., Paneque, H. M., Medina, H. E., & Hechavarria, P. R. (2001a). Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative neurological features. Revista de Neurologia, 32(1), 71–76. Velázquez, L., Garcia, R., Santos, F. N., Paneque, H. M., Medina, H. E., & Hechavarria, P. R. (2001a). Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative neurological features. Revista de Neurologia, 32(1), 71–76.
go back to reference Velázquez, L., Santos, N., García, R., Paneque, M., & Hechavarría, R. (2001b). Epidemiología de la ataxia hereditaria cubana. Revista de neurologia, 32(7), 606–611. Velázquez, L., Santos, N., García, R., Paneque, M., & Hechavarría, R. (2001b). Epidemiología de la ataxia hereditaria cubana. Revista de neurologia, 32(7), 606–611.
go back to reference Zung, W. (1971). A rating instrument for anxiety disorders. Official Journal of the Academy of Psychosomatic Medicine, 12(6), 371–379. Zung, W. (1971). A rating instrument for anxiety disorders. Official Journal of the Academy of Psychosomatic Medicine, 12(6), 371–379.
Metadata
Title
Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent
Authors
Milena Paneque
Carolina Lemos
Alda Sousa
Luis Velázquez
Manuela Fleming
Jorge Sequeiros
Publication date
01-10-2009
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 5/2009
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-009-9240-1

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