Anxiety and pre-symptomatic testing for neurodegenerative disorders

Lêdo Susana, Leite Ângela, Jorge Sequeiros

Centre for Predictive and Preventive Genetics (CGPP), IBMC—Institute for Molecular and Cell Biology, Porto, Portugal.

DOI: 10.4236/ojgen.2013.32A3003                

Abstract

In this retrospective study we have investigated the anxiety as an impact of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington disease (HD), Machado-Joseph disease (MJD) and familial amyloidotic polyneuropathy (FAP) V30MTTR. The study included 686 subjects: 586 (85.4%) were the offspring at risk for FAP, 92 (13.4%) for HD and 8 (1.2%) to MJD. Of these, 352 received the carrier result and 305 the non-carrier result. As indicator of anxiety distress was taken the Self-Rating Anxiety Scale of Zung (SAS), applied in the pre-test and the three post-test moments: three weeks, 6 months and one year after notification of test results. Values decreased significantly along the four evaluation moments, regardless the studied disease or test result. For female population, SAS means cores revealed results of clinical anxiety at pre-test, only decreasing to non clinical scores a year after PST disclosure.

Keywords

Anxiety; Subscales; SAS; Psychological Impact; FAP; HD; MJD

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	International Huntington Association and World Federation of Neurology Research Group on Huntington’s Disease (1994) Guidelines for the molecular genetics predictive test in Huntington’s disease. Journal of Medical Genetics, 31, 555-559. doi:10.1136/jmg.31.7.555
[2]	Sequeiros, J. (1996) Aconselhamento genético e teste preditivo na Doenca de Machado-Joseph. In: Sequeiros, J., Ed., O Teste Preditivo da Doenca de Machado-Joseph, UnIGENe, IBMC, Porto.
[3]	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. Journal of Community Genetics, 10, 132-139. doi:10.1159/000101754
[4]	Lerman, C. (1997) Psychological aspects of genetic testing: Introduction to the special issue. Health Psychology, 16, 3-7. doi:10.1037/h0092702
[5]	Decruyenaere, M., Evers-Kiebooms, G. and Van Den Berghe, H. (1997) Non-participation in predictive testing for Huntington’s Disease: Individual decision-making, personality and avoidant behavior in the family. European Journal of Human Genetics, 5, 351-363.
[6]	Almqvist, E.W., Bloch, M. and Hayden, M. (1999) A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington Disease. American Journal of Human Genetics, 64, 1293-1304. doi:10.1086/302374
[7]	Codori, A., Slavney, P.R. and Brandt, J. (1997) Predictors of psychological adjustment to genetic testing of Huntington’s Disease. Health Psychology, 16, 36-50. doi:10.1037/0278-6133.16.1.36
[8]	Tibben, A., Timman, R., Bannink, E. and Duivenvoorden, H. (1997) Three years follow-up after presymptomatic testing for Huntington’s Disease in tested individuals and partners. Health Psychology, 16, 20-35. doi:10.1037/0278-6133.16.1.20
[9]	Sequeiros, J. (1996) Genética clássica e genética molecular na Doenca de Machado-Joseph. In: Sequeiros, J., Ed., O Teste Preditivo da Doenca de Machado-Joseph, UnIGENe, IBMC, Porto, 1996.
[10]	Saraiva, M.J. and Costa, P. (1986) Familial amyloidotic polyneuropathy, Portuguese type: Phenotype and genotype. In: Sales Luís, M.L., Ed., Symposiumon Peripheral Neuropathies, Lisboa, 207-212.
[11]	Lopes, A. and Fleming, M. (1996) Doenca somática e organizacao psíquica: Reflexoes a partir da Polineuro-patia Amiloidótica Familiar. Revista Portuguesa de Psicanálise, 15, 93-100.
[12]	Lopes, A. and Fleming, M. (1998) Aspectos psicológicos da Polineuropatia Amiloidótica Familiar: A trama sub-terranea intergeracional. Brotéria Genética, XIX, 183-192.
[13]	Lêdo, S.O. (2002) Primeiro dia do resto de suas vidas. Alguns aspectos psicológicos da Paramiloidose. MSc Thesis, ISPA, Lisbon.
[14]	Leite, A. (2006) Determinantes psicossociais da adesao ao teste pré-sintomático em doencas neurológicas hereditárias de aparecimento tardio. PhD Thesis, Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto, Porto, 2006.
[15]	Paneque, H.M., Lemos, C., Sousa, A., Velázquez, P.L., Fleming, M. and Sequeiros, J. (2009) 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. Journal of Genetic Counseling, 18, 483-493. doi:10.1007/s10897-009-9240-1
[16]	Rolim, L., Leite, A., Ledo, S., Paneque, M., Sequeiros, J. and Fleming, M. (2006) Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics, 69, 297-305. doi:10.1111/j.1399-0004.2006.00606.x
[17]	Sequeiros, J. (1996) História da Doenca de Machado-Joseph. In: Sequeiros, J., Ed., O Teste Preditivo da Doenca de Machado-Joseph, UnIGENe, IBMC, Porto, 1996.
[18]	Coutinho, P. (1996) Aspectos clínicos, história natural e epidemiologia na Doenca de Machado-Joseph. In: Sequeiros, J., Ed., O Teste Preditivo da Doenca de Machado-Joseph, UnIGENe, IBMC, Porto.
[19]	Vaz Serra, A., Ponciano, E. and Relvas, J. (1982) Afericao da escala de auto-avaliacao de ansiedade de SAS, numa amostra da populacao portuguesa-II-Sua avaliacao como instrumento de medida. Psiquiatria Clínica, 3, 203-213.
[20]	Zung, W.A. (1975) Rating instrument for anxiety disorders. Psychosomatics, 12, 371-379.
[21]	Norusis, M.J. (2011) PASW statistics 19 guide to data analysis by Inc. SPSS. Pearson, 2011.
[22]	Pestana, M.H. and Gageiro, J.N. (1998) Análise de dados para Ciências Sociais—A complementaridade do SPSS. Edicoes Sílabo, Lisboa.
[23]	Sequeiros, J. (1998) Prenatal diagnosis of late-onset diseases. Progresos en Diagnóstico Prenatal, 10, 218-220.
[24]	Weil, J. (2003) Psychosocial genetic counseling in the post-nondirective era: A point of view. Journal of Genetic Counseling, 12, 199-211. doi:10.1023/A:1023234802124
[25]	Almqvist, E.W., Brinkman, R.R., Wiggins, S. and Hayden, M.R. (2003) Canadian collaborative study of predictive testing. Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clinical Genetics, 64, 300-309. doi:10.1034/j.1399-0004.2003.00157.x
[26]	Ponciano, E., Vaz Serra, A. and Relvas, J. (1982) Afericao da Escala de Auto-valiacao de Ansiedade de SAS, numa amostra da populacao portuguesa-I. Resultados da aplicacao numa amostra de populacao normal. Psiquiatria Clínica, 3, 191-202.
[27]	Richards, F. and Williams, K. (2004) Impact on couple relationships of predictive testing for Huntington disease: A longitudinal study. American Journal of Medical Genetics, 126, 161-169.
[28]	DudokdeWit, A.C., Tibben, A., Duivenvoorden, H.J., Niermeijer, M.F. and 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, 745-754. doi:10.1136/jmg.35.9.745