Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I

Clinical Genetics

Volumn 69, Issue 4, 2006, Pages 297-305

  Rolim, L ^a   Leite, A ^a   Ledo S ^a   Paneque, M ^c   Sequeiros, J ^a,b   Fleming, M ^a,b  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c Centro para la Investigacion y Rehabilitacion de las Ataxias Hereditarias Cuba   (Cuba)

Author keywords

Familial amyloidosis; Genetic counselling; Genetic testing; Hereditary ataxias; Psychosocial genetics

Indexed keywords

ARTICLE; CLINICAL FEATURE; DISTRESS SYNDROME; FAMILIAL AMYLOID POLYNEUROPATHY; FRIEDREICH ATAXIA; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HEALTH BEHAVIOR; HETEROZYGOTE; HUMAN; HUNTINGTON CHOREA; LABORATORY TEST; LIFE EXPECTANCY; LIVER TRANSPLANTATION; MACHADO JOSEPH DISEASE; MARRIAGE; MEDICAL DECISION MAKING; OUTPATIENT; PATIENT COUNSELING; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; PSYCHOLOGICAL WELL BEING; SYMPTOMATOLOGY;

AMYLOID NEUROPATHIES, FAMILIAL; DNA; GENETIC COUNSELING; GENETIC SCREENING; HUMANS; MACHADO-JOSEPH DISEASE; PORTUGAL; RISK FACTORS;

ATAXIA;

EID: 33645467001     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00606.x     Document Type: Article

References (80)

1. Gusella J, Wexler N, Conneally M et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983: 306: 234-238.
2. Benjamin C, Adam S, Wiggins S et al. Proceed with care: Direct presymptomatic testing for Huntington disease. Am J Hum Genet 1994: 55: 607-617.
3. Witjes-AnéMW, Zwinderman A, Tibben A et al. Behavioral complaints in participants who underwent presymptomatic testing for Huntington's disease. J Med Genet 2002: 39: 857-862.
4. Andrade C. A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952: 75: 408-427.
5. Sequeiros J, Saraiva MJ. Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy -type I (Portuguese, Andrade). Am J Med Genet 1987: 27: 345-357.
6. Maciel P, Gaspar C, DeStefano AL et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995: 57: 54-61.
7. Sequeiros J. Protocolo Geral do Programa Nacional de Teste Preditivo e Aconselhamento Genético na Doença de Machado-Joseph [General Protocol for Predictive Testing and Genetic Counselling for Machado-Joseph Disease]. In: Sequeiros, J, ed. O Teste Preditivo Da Doença de Machado-Joseph [Predictive Testing for Machado-Joseph Disease]. Porto: Unigene, IBMC, 1996: 123-149.
8. Coelho TA. Experiência do Aconselhamento Genético na Polineuropatia Amiloidótica Familiar [Experience of Genetic Counselling in Familial Amyloid Neuropathy]. In: Sequeiros, J, ed. O Teste Preditivo Da Doença de Machado-Joseph [Predictive Testing for Machado-Joseph Disease]. Porto: Unigene, IBMC, 1996: 71-77.
9. Maciel P, Costa MC, Ferro A et al. Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol 2001: 58 (4): 1821-1827.
10. Carvalho F, Sousa M, Fernandes S et al. Preimplantation genetic diagnosis for familial amyloid polyneuropathy (FAP). Prenat Diagn 2001: 21 (12): 1093-1099.
11. Pinto-Basto J, Coelho T, Leal Loureiro J et al. Prenatal diagnosis (PND) in late-onset neurological disorders in Portugal: 83 requests, since 1996. Eur J Hum Genet (in press).
12. Costa MC, Gomes-da-Silva J, Miranda CJ et al. Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene. Genomics 2004: 84 (2): 361-373.
13. Jardim L, Silveira I, Pereira ML et al. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol Scand 2003: 107 (3): 211-214.
14. Monte TL, Rieder CR, Tort AB et al. Use of fluoxetine for treatment of Machado-Joseph disease: An open-label study. Acta Neurol Scand 2003: 107 (3): 207-210.
15. Lobato L, Beirão I, Silva M et al. End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors. Amyloid 2004: 11 (1): 27-37.
16. Motulsky AG. Invited editorial: Predictive genetic testing. Am J Hum Genet 1994: 55: 603-605.
17. Lopes A, Fleming M. Aspectos psicológicos da polineuropatia amiloidótica familiar: A trama subterrânea intergeracional [Psychological aspects of familial amyloid neuropathy: The subterranean inter-generational cross-threads]. Brotéria Genética 1998: XIX (XCIV): 183-192.
18. Fleming M, Lopes A. Saber ou não saber: Dinâmica e impasses psicológicos na doença genética [To know or not to know: The dynamics and psychological impasse in genetic disease]. Revista Portuguesa Psicossomática 2000: 2 (1): 33-40.
19. Evers-Kiebooms G, Welkenhuysen M, Claes E et al. The psychological complexity of presymptomatic testing for late onset neurogenetic diseases and hereditary cancers: Implications for multidisciplinary counseling and for genetic education. Soc Sci Med 2000: 51: 831-841.
20. Paúl C, Martin I, Silva MR et al. Living with Machado-Joseph disease in a small rural community of the Tagus valley. Community Genet 1999: 2 (4): 190-195.
21. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978: 28: 703-709.
22. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding AE, Deufel T, Chamberlain S, eds. Hereditary ataxias. advances in neurology. New York: Raven Press, 1993: 139-153.
23. Nakano K, Dawson D, Spence A. Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972: 22: 49-55.
24. Lima M, Kay T, Vasconcelos JA et al. Disease knowledge and attitudes toward presymptomatic testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal). Community Genet 2001: 4 (1): 36-42.
25. Jardim LB, Silveira I, Pereira ML et al. A survey of spinocerebellar ataxia in South Brazil -66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol 2001: 248 (10): 870-876.
26. Kawaguchi Y, Okamoto T, Taniwaki M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994: 8: 221-228.
27. Sequeiros J, Silveira I, Maciel P et al. Genetic linkage of Machado-Joseph disease to chromosome 14q SRTPs in 16 Portuguese-Azorean kindreds. Genomics 1994: 21: 645-648.
28. Gaspar C, Lopes-Cendes I, Hayes S. Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study. Am J Hum Genet 2001: 68 (2): 523-528.
29. Sequeiros J. In Memoriam. Clin Genet 2006: 69 (2): 194-196.
30. Costa PP. History and geography of familial amyloidotic polyneuropathy, Portuguese type. In: Sales Luís ML, Bigotte de Almeida L, Pinho e Costa, eds. Symposium on Peripheral Neuropathies and Satellite Symposium on Familial Amyloid Polyneuropathy. Lisbon, 1986, 201-206.
31. Drugge U. Familial amyloidosis with polyneuropathy in Sweden: Some notes of its historical background. In: Costa PP, Falcão de Freitas A, Saraiva MJ, eds. Familial Amyloid Polyneuropathy and Other Transthyretin Related Disorders. Umeå: Medical Archives; Porto: Centro de Estudos de Paramiloidose, 1990.
32. Sousa A, Coelho T, Barros J et al. Genetic epidemiology of familial amyloid polyneuropathy (FAP) type I in Póvoa de Varzim and Vila do Conde (North of Portugal). Am J Med Genet 1995: 60: 512-521.
33. Lobato L. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V3OM). J Nephrol 2003: 16: 438-442.
34. Saraiva MJ, Birken S, Costa PP et al. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Invest 1984: 74 (1): 104-119.
35. Saraiva MJ. Sporadic cases of hereditary systemic amyloidosis. N Engl J Med 2002: 346: 1786-1791.
36. Sales-Luís ML, Conceição I, Carvalho M. Clinical and therapeutic implications of presymptomatic gene testing for familial amyloid polyneuropathy (FAP-I). Amyloid J Protein Folding Disorders 2003: 10 (Suppl. I): 26-31.
37. Herlenius G, Wilczek HE, Larsson M. Familial Amyloid Polyneuropathy World Transplant Registry. Ten years of international experience with liver transplantation for familial amyloid polyneuropathy: Results from the familial amyloid polyneuropathy world transplant registry. Transplantation 2004: 77 (1): 64-71.
38. European Community Huntington's Disease Collaborative Study Group. Ethical and social issues in presymptomatic testing for Huntington's disease: A European community collaborative study. J Med Genet 1993: 30: 1028-1035.
39. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable in Huntington's disease. Am J Med Genet 1993: 72: 971-983.
40. Tibben A, Vegter-van der Vlis M, Skraastad M et al. DNA-testing for Huntington's disease in the Netherlands: A retrospective study on psychosocial effects. Am J Med Genet A 1992: 44: 94-99.
41. Bloch M, Fahy M, Fox S et al. Presymptomatic testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. Am J Med Genet A 1989: 32: 217-224.
42. Dudok de Wit A, Tibben A, Duivenvoorden H. Rotterdam/Leiden Genetics Workgroup. Distress in individuals facing presymptomatic DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews. Am J Med Genet A 1998: 75: 62-74.
43. Taylor S. Presymptomatic genetic testing: New conundrums and moral imperatives. Paper presented at Towards Humane Technologies: Biotechnology, New Media and Citizenship. An International Conference Exploring the Social, Moral and Political Implications of Biotechnology Research and Commercialization. The University of Queensland, November 14, 2002, Ipswich, Queensland. Accessed from http://www.uq.edu.au/gsm/ Confpapers/Taylor.doc.
44. Tibben A. Genomics and dissemination of genetic information to individuals at-risk: The need for a proactive approach? Essay presented at Leids Universitair Medish Centrum, November 14, 2002, Klinische Genetica. Accessed from http://www.nwo.nl/NWOHome.nsf/pages/ NWOP_5DPCTM%24file/Thema3.Tibben.
45. Sequeiros J. Aconselhamento Genético e Teste Preditivo na Doença de Machado-Joseph [Genetic Counselling and Predictive Testing for Machado Joseph's disease]. In: Sequeiros J, ed. O Teste Preditivo Da Doença de Machado-Joseph [Predictive Testing for Machado-Joseph Disease]. Porto: UnIGENe, IBMC, 1996: 97-112.
46. Sobel S, Cowan D. Impact of genetic testing for Huntington disease on the family system. Am J Med Genet 2000: 90: 49-59.
47. Bird T. Risks and benefits of DNA testing for neurogenetic disorders. Seminars Neurol 1999: 19 (3): 253-259.
48. Wexler NS. Genetic 'Russian roulette': The experience of being 'at-risk' for Huntington's disease. In: Kessler S, ed. Genetic counseling: psychological dimensions. New York: Academic Press, 1979, 199-220.
49. BouttéM. Waiting for the family legacy: The experience of being at-risk for Machado-Joseph disease. Soc Sci Med 1990: 30 (8): 839-847.
50. Gonzalez S, Steinglass P, Reiss D. Putting the illness in its place. Fam Process 1989: 28: 69-88.
51. Wertz DC, Fletcher JC, Berg K. Review of ethical issues in medical genetics (WHO/HGN/ETH/00.4). Geneva, Switzerland: World Health Organization, 2003.
52. Penchaszadeh V, Puñales-Morejón D. Dimensiones psicosociales de los problemas genéticos [The psychosocial dimensions of genetic problems]. Teaching material. New York: Beth Israel Medical Center, Division of Medical Genetics, 2000.
53. Swavely S, Silverman W, Falek A. Psychological impact of the development of a presymptomatic test for Huntington's disease. Health Psychol 1987: 6 (29): 149-157.
54. Kessler S, Field T, Worth L et al. Attitudes of persons at-risk for Huntington disease toward presymptomatic testing. Am J Med Genet B Neuropsychiatr Genet 1987: 26: 259-270.
55. Copley TT, Wiggins S, Dufrasne S et al. Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease. Canadian Collaborative Study for Predictive Testing for Huntington Disease. Am J Med Genet 1995: 58 (1): 59-69.
56. Bundey S. Few psychological consequences of presymptomatic testing for Huntington's disease. Lancet 1997: 349: 4.
57. Evers-Kiebooms G, Nys K, Harper P et al. Presymptomatic DNA-testing for Huntington's disease and reproductive decision-making: A European collaborative study. Eur J Hum Genet 2002: 10 (3): 167-176.
58. Marteau TM, Croyle R. Psychological responses to genetic testing. BMJ 1998: 316: 693-696.
59. Zagalo-Cardoso J. Aconselhamento genético: Para uma valorização do paradigma psicológico [Genetic counselling: Towards a valorization of the psychological paradigm]. PhD Dissertation Thesis. Portugal: University Coimbra, 1995.
60. Fleming M. Intervenção psicológica na crise: A experiência com a paramiloidose [Psychological intervention during crisis: The experience with paramyloidosis]. In: Sequeiros, J, ed. O Teste Pré-Sintomático Da Doença de Machado-Joseph [Presymptomatic Testing for Machado-Joseph Disease]. Porto: Unigene, IBMC, 1996: 65-70.
61. Fleming M, Lêdo S, Rocha JC et al. Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminares [Psychological impact of presymptomatic testing for Machado-Joseph's Disease. Preliminary findings]. Arq Med (Porto) 2004: 18 (1/2): 72-75.
62. Lima M, Kay T, Vasconcelos J et al. Disease knowledge and attitudes toward presymptomatic testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal). Community Genet 2001: 4: 36-42.
63. Adam S, Wiggins S, Whyte P et al. Five year study of prenatal testing for Huntington's disease: Demand, attitudes, and psychological assessment. J Med Genet 1993: 30 (7): 549-556.
64. Wiggins S, Whyte P, Huggins M et al. The psychological consequences of presymptomatic testing for Huntington's disease. N Engl J Med 1992: 327 (20): 1401-1405.
65. Huggins M, Bloch M, Wiggins S et al. Presymptomatic testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. Am J Hum Genet 1992: 42: 508-515.
66. Almqvist E, Bloch M, Brinkman R et al. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after presymptomatic testing for Huntington Disease. Am J Hum Genet 1999: 64: 1293-1304.
67. Almqvist EW, Brinkman RR, Wiggins S et al. Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clin Genet 2003: 64 (4): 300-309.
68. Paúl MC. Reacções esperadas aos resultados do teste pré-sintomático: A experiência dos programas da doença de Huntington [Expected reactions to the results of presymptomatic testing: The experience of Huntington's disease programs]. In: Sequeiros, J, ed. O Teste Preditivo Da Doença de Machado-Joseph [Predictive Testing for Machado-Joseph Disease]. Porto: Unigene, IBMC, 1996: 79-94.
69. Paúl MC. Genética Psicossocial: O estudo das atitudes face àrealização do teste pré-sintomático da doença de Machado-Joseph [Psychosocial genetics: Study of attitudes towards presymptomatic testing for Machado-Joseph disease]. Psicologia: Teoria, Invest e Prática [Psychology, Theory, Res Prac] 1997: 2 (2): 241-250.
70. Rolim L. Psicologia clínica na doença de Machado-Joseph: estudo de instrumentos de avaliação, no contexto do teste pré-sintomático [Clinical psychology in Machado-Joseph disease: A study of the instruments for evaluation in the context of presymptomatic testing]. MSc Thesis. Portugal: University Coimbra, 2000.
71. Leite A, Sequeiros J, Paúl C. O bem-estar psicológico em indivíduos de risco para doenças neurológicas hereditárias de aparecimento tardio e controlos. [Psychological well-being in individuals at-risk for late-onset hereditary neurological diseases and controls]. Psicologia, Saúde Doenças 2002: 3 (2): 113-118.
72. Gonzalez C, Lima M, Kay T et al. Short-term psychological impact of predictive testing for Machado-Joseph disease: Depression and anxiety levels in individuals at risk from Azores (Portugal). Community Genet 2004: 7: 196-201.
73. Lêdo S. O primeiro dia do resto das suas vidas. alguns aspectos psicológicos da Paramiloidose. [The first day of the rest of their lives: Some psychological aspects of Paramyloidosis]. MSc Thesis. Lisbon, Portugal: ISPA, 2002.
74. Evans D, Maher E, Macleod R et al. Uptake of genetic testing for cancer predisposition. J Med Genet 1997: 34: 746-748.
75. Kelly K, Leventhal H, Andrykowski M et al. The decision to test in women receiving genetic counseling for BRCA1 and BRCA2 mutations. J Genet Couns 2004: 13 (3): 237-257.
76. Lopes A, Fleming M. Doença somática e organização psíquica: Reflexões a partir da polineuropatia amiloidótica familiar (P.A.F.) [Somatic disease and psychic organization: Reflections on familial amyloid polyneuropathy (FAP-I)]. Revista Portuguesa de Psicanálise 1996: 15: 93-100.
77. Beck AT, Ward CH, Mendelson M et al. An inventory for measuring depression. Arch Gen Psychiatry 1961: 4: 561-571.
78. Beck AT, Weissman A, Lester D et al. The measurement of pessimism: The hopelessness scale. J Consult Clin Psychol 1974: 42: 861-865.
79. Koji A, Itoyama Y. Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese. Eur J Neurol 1997: 4 (6): 593-600.
80. Sequeiros J, Maciel P, Taborda F et al. Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis. Prenat Diagn 1998: 18: 611-617.