Lêdo Susana, Paneque Milena, Rocha José, Leite Ângela, Sequeiros Jorge
Centre for Predictive and Preventive Genetics (CGPP), Institute for Mo-lecular and Cell Biology (IBMC), Porto, Portugal ICBAS, Universidade do Porto, Porto, Portugal.
Centre for Predictive and Preventive Genetics (CGPP), Institute for Mo-lecular and Cell Biology (IBMC), Porto, Portugal ICBAS, Universidade do Porto, Porto, Portugal UnIPSa, Centro de Investiga??o em Ciências da Saúde (CICS), Instituto Superior de Ciências da Saúde, CESPU, Paredes, Portugal.
Centre for Predictive and Preventive Genetics (CGPP), Institute for Mo-lecular and Cell Biology (IBMC), Porto, Portugal Instituto Superior de Ciências Empresariais e do Turismo (ISCET), Porto, Portugal Universidade Lusófona do Porto (ULP), Porto, Portugal.
UnIPSa, Centro de Investiga??o em Ciências da Saúde (CICS), Instituto Superior de Ciências da Saúde, CESPU, Paredes, Portugal.
DOI: 10.4236/ojgen.2013.34030   PDF    HTML     4,828 Downloads   7,407 Views   Citations

Abstract

In this retrospective study, we have researched the psychological impact of pre-symptomatic testing (PST) for 2 autosomal dominant late-onset diseases: Huntington disease (HD and familial amyloidotic polyneuropathy (FAP) V30M TTR. The study included 53 subjects: 40 (75.5%) were the offspring at risk for FAP and 13 (24.5%) for HD. Of these, 38 (73.1%) received the carrier result and 12 (23.1%) the noncarrier result; 3 of them did not want to know the result. The indicators taken for emotional distress were the subscales and global indexes of psychopathological Behavior Symptoms Inventory (BSI), applied in the pre-test and post-test, one-year after notification of results. Values decreased significantly one year after the implementation of the PST, regardless of the studied disease or test result; this seems to corroborate previous studies showing that testing does not increase pre-symptomatic levels of emotional disturbance in individuals. However, the subjects studied showed, for all subscales and global indexes of the BSI, significantly higher values than those of control groups.

Keywords

Psychopathologic Indexes; Subscales; BSI; Psychological Impact; FAP; HD

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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. http://dx.doi.org/10.1136/jmg.31.7.555
[2]	Sequeiros, J. (1996) Genetic Counseling and the Predictive Testing for Machado-Joseph Disease. In: Sequeiros, J. (Ed.), The Predictive Testing for Machado-Joseph Disease, UnIGENe, IBMC, Porto, pp. 97-112.
[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. Community Genetics, 10, 132-139. http://dx.doi.org/10.1159/000101754
[4]	Lerman, C. (1997) Psychological aspects of genetic testing: introduction to the special issue. Health Psychology, 1, 3-7. http://dx.doi.org/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. http://dx.doi.org/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, 1, 36-50. http://dx.doi.org/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, 1, 20-35. http://dx.doi.org/10.1037/0278-6133.16.1.20
[9]	Saraiva, M.J. and Costa, P. (1986) Familial Amyloidotic Polyneuropathy, Portuguese type: Phenotype and genotype. In: Sales-Luís, M.L., Ed., Symposium on Peripheral Neuropathies, Lisboa, pp. 207-212.
[10]	Lopes, A. and Fleming, M. (1996) The Somatic Disease and the psychic Organization: A reflection: Considerations starting from the Familiar Amyloidotic Polyneuropathy. Portuguese Journal of Psychoanalysis, 15, 93-100.
[11]	Lopes, A. and Fleming, M. (1998) Psychological Aspects of the Familial Amyloidotic Polyneuropathy: The intergenerational underground storyline. Brotéria Genétics, 19, 183-192.
[12]	Lêdo, S. (2002) The First day of the rest of their lives. Some psychological aspects of FAP. MSc Dissertation, ISPA Lisbon.
[13]	Leite, A. (2006) Psychosocial Determinants of Adherence for pre-symptomatic testing of the late onset neurological genetic diseases. Ph.D. Dissertation, Instituto de Ciências Biomédicas Abel Salazar, University of Porto.
[14]	Rolim, L., Leite, A., Ledo, S., Paneque, M., Sequeiros, J. and Fleming, M. (2006) Psychological aspects of presymptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics, 69, 297-305. http://dx.doi.org/10.1111/j.1399-0004.2006.00606.x
[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. http://dx.doi.org/10.1007/s10897-009-9240-1
[16]	Derogatis, L.R. (1993) BSI: Brief Symptom Inventory. Nacional Computers Systems, Minneapolis.
[17]	Canavarro, C. (1999) Psychopathological Sintomatic Inventory—BSI. In: Simõ es, M., Gon çalves, M. and Almeida, L., Eds. Psychological Test and Scales in Portugal (Vol. 2), APPORT/SHO, Braga, 305-331.
[18]	Canavarro, C. (2007) Psychopathological Sintomatic Inventory (BSI) A critical revision of the portuguese studies. In: Simões, M., Machado, C., Gon çalves, M. and Almeida, L., Eds., Psychological Evaluation. The Validated Scales for the Portuguese Population (Vol. 3), Quarteto Editora, Lisboa.
[19]	Bloch, M., Fahy, M., Fox, S. and Hayden, M. (1989) Presymptomatic testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. American Journal of Medical Genetics, 32, 217-224. http://dx.doi.org/10.1002/ajmg.1320320215
[20]	Codori, A.M., Hanson, R. and Brandt, J. (1994) Selfselection in predictive testing for Huntington’s disease. American Journal of Medical Genetics, 54, 167-173. http://dx.doi.org/10.1002/ajmg.1320540303
[21]	Tibben, A. (2007) Predictive testing for Huntington’s disease. Brain Result Bulletin, 72, 165-171. http://dx.doi.org/10.1016/j.brainresbull.2006.10.023
[22]	Sequeiros, J. (1998) Prenatal diagnosis of late-onset diseases. Progresos en Diagnóstico Prenatal, 10, 218-220.
[23]	Weil, J. (2003) Psychosocial genetic counseling in the post-nondirective era: A point of view. Journal of Genetic Counseling, 12, 199-211. http://dx.doi.org/10.1023/A:1023234802124
[24]	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. http://dx.doi.org/10.1034/j.1399-0004.2003.00157.x
[25]	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. http://dx.doi.org/10.1136/jmg.35.9.745
[26]	Quartilho, M. (1999) Fibromyalgia e Somatization. Ph.D. Dissertation, University of Coimbra.
[27]	Almeida, D., Vieira, C., Rijo, D. and Felisberto, A. (2005) Addiction and psychiatric comorbidity: Axis I Symptomatology and personality disorders. Clinical Psychiatry, 26, 55-70.
[28]	Monteiro, M., Matos, A. and Coelho, R. (2004) Psychological adaptation of mothers whose children have cerebral paralysis: A study result. Portuguese Journal of Psychosomatic, 6, 115-130.