A Huntington-betegség preszimptómás genetikai vizsgálatát kérok pszichológiai felkészítése

Translated title of the contribution: Psychological aspects of presymptomatic diagnosis in Huntington disease

Berta Bondor, Judit Kárteszi, K. Kinga Hadzsiev, Richárd Kellermayer, B. Melegh, G. Kosztolányi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Introduction: Huntington disease is an autosomal dominant, progressive neurodegenerative disorder, starting in adulthood. International recommendations were created for presymptomatic testing (genetic test performed before symptoms appear). During the initial preparation for presymptomatic testing, a genetic counsellor, neurologist and psychologist attend. Aim: The authors evaluated whether the international recommendations could be used in the 10 cases examined, and how much the process must be individualized. Method: The authors stated a protocol based on the literature, and utilized it for the purpose of obtaining informed consent. Psychological preparation was an important part of this process. Ten cases are presented in whose families Huntington disease was determined, and therefore they asked for their own presymptomatic testing. Results: From the ten persons who asked for examination, four changed their minds during the psychological process; four were attended in the process, and two asked for the test without any psychological preparation. Conclusion: Along with the following of the protocol steps individual factors need to be taken into account in order to ideally plan the preparation process of presymptomatic testing. Authors recommend keeping contact with the individuals after genetic testing.

Original languageHungarian
Pages (from-to)609-612
Number of pages4
JournalOrvosi Hetilap
Volume149
Issue number13
DOIs
Publication statusPublished - Mar 30 2008

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Huntington Disease
Genetic Testing
Psychology
Informed Consent
Neurodegenerative Diseases

ASJC Scopus subject areas

  • Medicine(all)

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A Huntington-betegség preszimptómás genetikai vizsgálatát kérok pszichológiai felkészítése. / Bondor, Berta; Kárteszi, Judit; Hadzsiev, K. Kinga; Kellermayer, Richárd; Melegh, B.; Kosztolányi, G.

In: Orvosi Hetilap, Vol. 149, No. 13, 30.03.2008, p. 609-612.

Research output: Contribution to journalArticle

Bondor, Berta ; Kárteszi, Judit ; Hadzsiev, K. Kinga ; Kellermayer, Richárd ; Melegh, B. ; Kosztolányi, G. / A Huntington-betegség preszimptómás genetikai vizsgálatát kérok pszichológiai felkészítése. In: Orvosi Hetilap. 2008 ; Vol. 149, No. 13. pp. 609-612.
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