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Journal of Genetic Counseling

, Volume 18, Issue 4, pp 350–356 | Cite as

A Decade of Genetic Counseling in Frontotemporal Dementia Affected Families: Few Counseling Requests and much Familial Opposition to Testing

  • S. R. RiedijkEmail author
  • M. F. N. Niermeijer
  • D. Dooijes
  • A. Tibben
Professional Issues

Abstract

A decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second, FTD at-risk counselees reported substantial familial opposition to genetic testing, which is distinct from the attitude in Huntington Disease affected families. We hypothesize that the low acceptance for FTD genetic counseling is consequential to the familial opposition and explain this within the theoretical framework of separation-individuation. Furthermore, we hypothesize that separation-individuation problems do not similarly influence the acceptance of HD genetic counseling, due to the educative role of the well-organised patient organization for HD in the Netherlands. We offer counseling recommendations that serve to facilitate the individuation of the counselee with respect to the FTD genetic test.

Keywords

Frontotemporal dementia Genetic counseling Separation-individuation Presymptomatic testing Family opposition 

Notes

Acknowledgements

This paper was supported by the Dutch Research Council (NWO: 940-38-005).

Open Access

This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

References

  1. Barber, B. K. (1997). Adolescent socialization in context: the role of connection, regulation, and autonomy in the family. Journal of Adolescent Research, 12, 5–11. doi: https://doi.org/10.1177/0743554897121002.CrossRefGoogle Scholar
  2. Blos, P. (1967). The second individuation process of adolescence. In R. S. Eissler, A. Freud, H. Hartmann, & M. Kris (Eds.), The psychoanalytic study of the child (vol. Vol. 22, (pp. 162–186)). New York: International Universities Press.Google Scholar
  3. Bowles Biesecker, B., Ishibe, N., Hadley, D. W., Giambarresi, T. R., Kase, R. G., Lerman, C., et al. (2000). Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. American Journal of Medical Genetics, 93, 257–263. doi:10.1002/1096-8628(20000814)93:4<257::AID-AJMG1>3.0.CO;2-8.CrossRefGoogle Scholar
  4. Bronner, I. F., Rizzu, P., Seelaar, H., Van Mil, S. E., Anar, B., Azmani, A., et al. (2007). Progranulin mutations in Dutch familial fronto-temporal lobar degeneration. European Journal of Human Genetics, 15, 369–374. doi: https://doi.org/10.1038/sj.ejhg.5201772.CrossRefGoogle Scholar
  5. Brouwer-DudokdeWit, A. C., Savenije, A., Zoeteweij, M. W., Maat-Kievit, A., & Tibben, A. (2002). A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm. Family Process, 41(4), 677–692. doi: https://doi.org/10.1111/j.1545-5300.2002.00677.x.CrossRefGoogle Scholar
  6. Carter, B., & McGoldrick, M. (2005). The expanded family life cycle, individual, family and social perspectives (3rd ed.). Boston: Allyn and Bacon.Google Scholar
  7. Daniels, J. A. (1990). Adolescent separation-individuation and family transitions. Adolescence, 25, 105–116.PubMedGoogle Scholar
  8. Decruyenaere, M., Evers-Kiebooms, G., Cloostermans, T., Boogaerts, A., Demyttenaere, K., Dom, R., et al. (2003). Psychological distress in the 5-year period after predictive testing for Huntington’s disease. European Journal of Human Genetics, 11, 30–38. doi: https://doi.org/10.1038/sj.ejhg.5200913.CrossRefGoogle Scholar
  9. Duisterhof, M., & Tibben, A. (2000). Childhood experiences with a parent with a hereditary late onset disease and the impact on wellbeing: a new direction in research. Journal of Medical Genetics, 37(suppl II), A9.Google Scholar
  10. Duisterhof, M., Trijsburg, R. W., Duivenvoorden, H. J., & Tibben, A. (2002). Are experiences with HD related to the attachment representation in adults at 50% risk for HD? An empirical exploration. European Journal of Human Genetics, 10(suppl I), 315.Google Scholar
  11. Fanos, J. H. (1997). Developmental tasks of childhood and adolescence: implications for genetic testing. American Journal of Medical Genetics, 71(1), 22–28. doi: https://doi.org/10.1002/(SICI)1096-8628(19970711)71:1<22::AID-AJMG4>3.0.CO;2-S.CrossRefGoogle Scholar
  12. Goldman, J. S., MPhil, C. G. C., Farmer, J. M., Van Deerlin, V. M., Wilhelmsen, K. C., Miller, B. L., et al. (2004). Frontotemporal dementia: Genetics and counseling dilemmas. The Neurologist, 10, 227–234. doi: https://doi.org/10.1097/01.nrl.0000138735.48533.26.CrossRefGoogle Scholar
  13. Grootevant, H. D., & Cooper, C. R. (1986). Individuation in family relationships. A perspective on individual differences in the development of identity and role-taking skill in adolescence. Human Development, 29, 82–100.CrossRefGoogle Scholar
  14. Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., et al. (1997). Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Annals of Neurology, 41(2), 150–159. doi: https://doi.org/10.1002/ana.410410205.CrossRefGoogle Scholar
  15. Maat-Kievit, A., Vegter-van der Vlis, M., Zoeteweij, M., Losekoot, M., Van Haeringen, A., & Roos, R. (2000). Paradox of a better test for Huntington’s disease. Journal of Neurology, Neurosurgery, and Psychiatry, 69, 579–583. doi: https://doi.org/10.1136/jnnp.69.5.579.CrossRefGoogle Scholar
  16. Mahler, M. S. (1963). Thoughts about development and individuation. The Psychoanalytic Study of the Child, 18, 307–324.CrossRefGoogle Scholar
  17. Martindale, B. (1987). Huntington’s chorea: some psychodynamics seen in those at risk and in the responses of the helping professions. The British Journal of Psychiatry, 150, 319–323. doi: https://doi.org/10.1192/bjp.150.3.319.CrossRefGoogle Scholar
  18. McDaniel, S. H. (2005). The psychotherapy of genetics. Family Process, 44, 25–44. doi: https://doi.org/10.1111/j.1545-5300.2005.00040.x.CrossRefGoogle Scholar
  19. Mercy, L., Hodges, J. R., Dawson, K., Barker, R. A., & Brayne, C. (2008). Incidence of early-onset dementias in Cambridgeshire, United Kingdom. Neurology, 71, 1496–1499. doi: https://doi.org/10.1212/01.wnl.0000334277.16896.fa.CrossRefGoogle Scholar
  20. Mickelson, K. D., Kessler, R. C., & Shaver, P. (1997). Adult Attachment in a nationally representative sample. Journal of Personality and Social Psychology, 73, 1092–1106. doi: https://doi.org/10.1037/0022-3514.73.5.1092.CrossRefGoogle Scholar
  21. Olson, D. H. (2000). Circumplex model of marital and family systems. Journal of Family Therapy, 22, 144–167. doi: https://doi.org/10.1111/1467-6427.00144.CrossRefGoogle Scholar
  22. Rademakers, R., Baker, M., Gass, J., Adamson, J., Huey, E. D., Momeni, P., et al. (2007). Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C?T[Arg493X] mutation: an international initiative. The Lancet Neurology, 6, 857–868. doi: https://doi.org/10.1016/S1474-4422(07)70221-1.CrossRefGoogle Scholar
  23. Rademakers, R., Eriksen, J. L., Baker, M., Robinson, T., Ahmed, Z., Lincoln, S. J., et al. (2008). Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Human Molecular Genetics, 17, 3631–3642. doi: https://doi.org/10.1093/hmg/ddn257.CrossRefGoogle Scholar
  24. Rolland, J. (2006). Living with anticipatory loss in the new era of genetics: a life cycle perspective. In C. WWN (Ed.), Individuals, families, and the New Era of Genetics: Biopsychosocial Perspectives (pp. 139–172). New York: W.WE.Norton & Co.Google Scholar
  25. Rolland, J. S. (1987). Chronic illness and the life cycle: a conceptual framework. Family Process, 26, 203–221. doi: https://doi.org/10.1111/j.1545-5300.1987.00203.x.CrossRefGoogle Scholar
  26. Rosso, S. M., Donker Kaat, L., Baks, T., Joosse, M., de Koning, I., Pijnenburg, Y., et al. (2003). Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain, 126(Pt 9), 2016–2022. doi: https://doi.org/10.1093/brain/awg204.CrossRefGoogle Scholar
  27. Seelaar, H., Kamphorst, W., Rosso, S. M., Azmani, A., Masdjedi, R., De Koning, I., et al. (2008). Distinct genetic forms of frontotemporal dementia. Neurology, 14, 1220–1226. doi: https://doi.org/10.1212/01.wnl.0000319702.37497.72.CrossRefGoogle Scholar
  28. Sleegers, K., Kumar-Singh, S., Cruts, M., & Van Broeckhoven, C. (2008). Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurology. Archives of Neurology, 6, 700–704. doi: https://doi.org/10.1001/archneur.65.6.700.Google Scholar
  29. Snowden, J. S., Neary, D., & Mann, A. (2002). Frontotemporal dementia. The British Journal of Psychiatry, 180, 140–143. doi: https://doi.org/10.1192/bjp.180.2.140.CrossRefGoogle Scholar
  30. Tibben, A. (2007). Predictive testing for Huntington’s disease. Brain Research Bulletin, 72, 165–171. doi: https://doi.org/10.1016/j.brainresbull.2006.10.023.CrossRefGoogle Scholar
  31. Vamos, M., Hambridge, J., Edwards, M., & Conaghan, J. (2007). The impact of Huntington’s disease on family life. Psychosomatics, 48, 400–404. doi: https://doi.org/10.1176/appi.psy.48.5.400.CrossRefGoogle Scholar
  32. Van der Meer, L., Timman, R., Trijsburg, W., Duisterhof, M., Erdman, R., Van Elderen, T., et al. (2006). Attachment in families with Huntington’s disease. A paradigm in clinical genetics. Patient Education and Counseling, 63, 246–254. doi: https://doi.org/10.1016/j.pec.2005.11.019.CrossRefGoogle Scholar
  33. Van der Zee, J., Sleegers, K., & Van Broeckhoven, C. (2008). Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum. Neurology, 7, 1191–1197. doi: https://doi.org/10.1212/01.wnl.0000327523.52537.86.Google Scholar
  34. van Gael, M. (2002). De missing link tussen trauma en borderline problematiek. Een benadering vanuit de hechtingsproblematiek. Tijdschrift voor Psychotherapie, 28, 365–384.Google Scholar
  35. van Swieten, J., & Heutink, P. (2008). Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. The Lancet Neurology, 7, 965–974. doi: https://doi.org/10.1016/S1474-4422(08)70194-7.CrossRefGoogle Scholar
  36. Van Swieten, J. C. (2007). Genetic basis of frontotemporal dementia. The Lancet Neurology, 6, 840–841. doi: https://doi.org/10.1016/S1474-4422(07)70224-7.CrossRefGoogle Scholar
  37. Van Swieten, J. C., Rosso, S. M., van Herpen, E., Kamphorst, W., Ravid, R., & Heutink, P. (2004). Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17. Dementia and Geriatric Cognitive Disorders, 17, 261–264. doi: https://doi.org/10.1159/000077150.CrossRefGoogle Scholar
  38. White, K. M., Speisman, J. C., & Kostos, D. (1983). Young adults and their parents: individuation to mutuality. In H. D. Grootevant, & C. R. Cooper (Eds.),New directions for child development, vol. 22: Adolescent development in the family (pp. 1–4). San-Francisco: Jossey-Bass.Google Scholar

Copyright information

© The Author(s) 2009

Open AccessThis is an open access article distributed under the terms of the Creative Commons Attribution Noncommercial License (https://doi.org/creativecommons.org/licenses/by-nc/2.0/), which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

Authors and Affiliations

  • S. R. Riedijk
    • 1
    • 2
    Email author
  • M. F. N. Niermeijer
    • 3
  • D. Dooijes
    • 1
  • A. Tibben
    • 4
  1. 1.Department of Clinical GeneticsErasmus Medical CentreRotterdamThe Netherlands
  2. 2.Department of Medical Psychology and PsychotherapyErasmus Medical Centre Rotterdam Section of Clinical GeneticsRotterdamThe Netherlands
  3. 3.Department AnthropogeneticsUniversity Medical Centre Nijmegen–St. RadboudNijmegenThe Netherlands
  4. 4.Centre of Human and Clinical Genetics, and Department NeurologyLUMCLeidenNetherlands

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